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Connecticut, USA

Ryan

Our personal journey began back in 2002 when our son Ryan, who had been developing normally until his first birthday, began struggling with with episodic bouts of muscle weakness, paroxysmal torticollis and other neurological and muscle related issues. Developmental milestones that he had been previously reached, slowly faded away and future ones grew more distant. The cognitive and physical divide between Ryan and his peers continued to widen and today he struggles with things most of us take for granted.

A decade of looking for answers with the best doctors and hospitals in Hartford, New York, Boston and New Haven yielded no results. Everything came back normal - reality of course was quite a bit different. This all changed in June of 2017 when we were told by Dr. Michele Spencer-Manzon, a Geneticist with Yale Children's Hospital, that Ryan had a deletion in the TANGO2 gene on chromosome 22 that had just recently been identified as a gene that contributes to human disease. Finally, a test that didn't come back normal and could begin to explain Ryan's struggles.

Having a diagnosis after all these years came with mixed emotions. Objectively, we knew knowing was better than not knowing. But, what we were learning about it was very scary - TANGO2 disease is characterized by rhabdomyolysis, metabolic crises, life-threatening cardiac arrhythmia and neurodegeneration. Many of the children involved in the initial studies that identified TANGO2 as a gene related to human disease had expressed symptoms much worse than Ryan and several had died. There is not enough information available to know what the long-term prognosis is. What did this mean for Ryan? What did this mean for us as a family?

In mid-November 2017, while still wrestling with the gravity of Ryan's diagnosis and being asked to make medical decisions that would have long lasting impacts on his well-being, we were so very fortunate to find a support group on Facebook where a small (but growing) group of parents had found one another and started to connect and share their stories. It was started by Veronica Jones, a TANGO2 parent from California. We were warmly welcomed into that community and it immediately gave us the sense we were not alone on this journey.

What become very clear as we engaged with this community and learned of their experiences with their children and the medical community, is that not nearly enough is known about how it is that TANGO2 mutations affect our children at the most basic cellular, metabolic and biochemical level. The talented and caring professionals that are working so hard to help our children, lack the benefit of this basic research and are doing the best they can with very limited research and data. That is where the idea for the TANGO2 Research Foundation came from.

Mike & Kasha Morris
East Hampton, CT

California, USA

Thea

Our 7-year-old daughter Thea loves to swim and play tennis. She is very artistic and loves to make her own doll house furniture out of paper. She takes a few minutes to warm up, but once she does she is very loving and sweet.

When Thea was 2 years old, we ended up in the hospital after not being able to wake her up one morning. She had been suffering from strange episodes of lethargy and stopped meeting milestones at 18 months old. Finally, after an 11 day hospitalization and a full genome sequencing test, Thea was diagnosed with TANGO2 disease. We learned that the disease was newly discovered, just three months prior to her hospitalization. The doctors did not have much to share about the disease and we had no idea what to do next.

We began to reach out via social media to try to find other families with this diagnosis. Gradually, families around the world began to find us on Facebook and we started to learn from each other. We learned what helped our kids, what made them worse, how to talk to doctors, and eventually how to start a research foundation. 100 families later, we are gaining momentum with the TANGO2 Research Foundation and five promising research projects underway.

Because of this disease, Thea is at risk for mental and physical decline and even premature death. Our greatest fear is that someday Thea won't be Thea anymore. The support of our family and friends gives us hope for a better future for Thea and kids from around that world that have become part of our TANGO2 family.

Texas, USA

Sammy

Sammy loved to make friends and it didn't matter who you were! He never met a stranger! I swear his smile was permanently painted on his face. He had this huge joy even during difficult times. His favorite thing in life was being part of a team. Whether it was football, basketball or Boys scouts you could rest assured he would participate with a passion that was unmatched! He was the definition of joy.

I want to tell Sammy's story but I want to start at the end somewhat. Sammy finished his journey with TANGO2 disease on October 23, 2018. However, I want to tell you not what the disease did to him but what he did living with TANGO2 disease. From the moment Sammy took his first steps he would stumble and fall. But he would also always get up and try again over and over again. Honestly, this is the story of his life; falling and getting back up! When he was told he couldn't play football because his doctor couldn't clear him to play a contact sport, he cried and was upset! But he quickly found that smile and became the next best thing, he became the "water-boy" as he would refer to himself in Junior High and later the football manager in High School. He became the best player on the team without setting a foot on the field. Sammy was also involved in Boy Scouts of America. He started as a Tiger Cub at the age 5 and completed the program at the age of 17 as an Eagle Scout. The highest rank he could achieve as a Boy Scout! Was it easy? No, it was definitely not but he didn’t give up! His dad was with him every step of the way and he had the most supportive leaders. When it came time to start college he got involved with the basketball team as their manager, a position that wasn’t even available, but Sammy won over the head coach. He was only with them for a month and a half at the time of his death, but you wouldn’t know it by the love his new teammates had for him! He did all this throughout his life undergoing numerous test and hospitalizations as TANGO2 disease had not been discovered. He was the patient that inspired the discovery of the disease. Sammy never let TANGO2 disease define him! He always found a way to live life to its fullest and we, as his parents, allowed him to try anything he put his mind to!

We have no regrets and only an unending gratitude that we were allowed to be his parents and that he is being used to one day find a cure for all of his TANGO2 disease brothers and sisters! Sammy’s TANGO2 disease journey started on June 9, 2000 but it didn’t end with his passing! He continues to be an inspiration to our TANGO2 community, his friends and especially his family! #livelikesammy

Italy, Europe

Edoardo

Edoardo is 3 1/2 years old. Before being diagnosed with Tango2 disease, he had three severe episodes of rhabdomyolysis (at 13, 27 and 28 months old) with cognitive and motor impairment.

Since he was 9 months old, he started showing some delays in acquiring cognitive and motor milestones. Nevertheless, he was sociable and interacted with those around him.
The first rhabdomyolysis attack occurred when he was 13 months old: very high CK levels, severe hypoanatremia and cardiac complications. We spent 3 months in the hospital undertaking all sorts of tests, without being able to find a diagnosis. We returned home hoping that this was just a one-time episode and that Edoardo would recover soon.

Back home, Edoardo slowly regained muscle tone: started crawling at 18 months, holding himself upright by clutching at a frontal support at 21 months and moving laterally at 24 months. He was producing a few sounds, without real lallation. He did not imitate adults and played in a repetitive way, without significant evolution in its complexity.

At the age of 27 months, Edoardo had a 2nd episode of rhabdomyolysis (one year after the first one). This attack resembled the first one and it was treated in the same way. After 4 weeks of hospitalization, CK levels were back to normal, but he developed a viral infection: CK raised again and the heart was severely affected and experienced a cardiogenic shock (with cardiac arrest). He was in intensive care for two weeks under heavy drug treatment. A nasogastric tube was placed for feeding. Several weeks after heart failure, he slowly started to move again and regained some strength. Recovering from the second attack was extremely difficult for Edoardo and took him nearly 6 months to get back to where he was before the attack.

Thanks to exome sequencing, we finally put a name to his disease. This was both a shock and a relief: at least we now knew what he had and we could do our best to prevent new crises.

Now, January 2018, Edoardo has progressed in both motor and cognitive aspects. He crawls, stands up and moves some steps with limited support. He does understand basic questions and replies non verbally to them. He is always happy and loves being with family and is curious about new people and things.

After all we've been through, we consider every day he is with us an invaluable gift. When he smiles he makes us forget all difficulties we faced and still have to face in the future.

We are glad we found other Tango 2 families with whom to share our experiences, joys and concerns. We are confident that together we will be able to find a cure for our children!

New Glasgow, Nova Scotia, Canada

Bria

UPDATE on BRIA - MAY 2022
Bria is such a fun-loving, happy girl. She loves animals and has three dogs and two cats. Bria also loves riding horses and making them splash through big puddles. Bria's laugh lights up every room she is in. She is the little sister of an amazing big brother Braxton. Bria is very social, loves playing with her friends and going to school. She has taught her family to truly enjoy life and I am so grateful to be her mom.

Bria was very young when she experienced her first metabolic crisis at 4 months. She had a very rough first year of life and spent time on life support. Since then, she has made a lot of progress. She is on a cocktail of vitamins, has lots of doctor and therapy appointments and she struggles with speech and mobility, but overall she has good quality of life.

FIRST STORY on Bria
This is Bria. For the longest time, we had no idea what caused Bria's 'episodes', the first of which occurred at the age of 4 months. We had spent the subsequent months/years battling back from that. Bria experienced low blood sugar, high CPK and lactate levels, high Ketone levels, brain damage, enlarged kidneys, prolonged QT, Hypothyroidism, uncontrolled seizures, suffered 2 comas, 15 total days on life support, has had feeding tubes, mounds of medications and lots of long hospital stays in her very short 4 years.

Bria has overcome so much. She still takes thyroid medication, a mito cocktail of supplements and patches one eye every day for strengthening. Bria has cognitive delays. She babbles and has some words but has significant speech delays. Bria walks, but struggles with balance issues and gait abnormalities. Those are the medical pieces of Bria which seem hard to believe when you meet her.

Bria as an individual is much more. She is funny and makes herself and others laugh frequently. She is full of life and has a beautiful way about her, both inside and out. She loves her pets (cat Singe and dog Koda) and her family, especially her brother Braxton and is extremely engaged when meeting new people. She studies those around her and works very hard to overcome her challenges daily. Bria takes therapeutic horse riding lessons and it has helped her to walk and build her confidence. Bria displays an everlasting luster to pursue happiness daily. It is this that motivates us to help her in her journey by participating in this research.

Texas, USA

Eleanor

UPDATE MAY 2022 - Ellie has a sweet, caring spirit and a smile that lights up the room. She works very hard each day to do the things most people take for granted.

Her favorite people are her brothers -- Denton and Reese -- who both do their best to help her when she needs it and support her in what she does. She loves to watch, "I Love Lucy," and is a fan of old musicals. She takes care of her monkey, "E E" and her baby doll, "Mae Mae". Her Mom, Laura, is her hero and she wants to be like her when she grows up.

FIRST STORY - Eleanor (Ellie)
Eleanor was born and lots of pink was brought into our home. She appeared to be healthy, happy, and typical as she approached 6 months, but being the third child what we were expecting wasn’t happening as time went on. Her unexplained delays, loss of body control episodes, random paroxysmal torticollis and in general hard times to thrive were hard to accept. We began talking to our pediatrician and were told that some children just develop slower than others, but her mother still knew something wasn’t quite right. She didn’t start walking until she was 2 years old.

At 9 months, we started Eleanor with Early Childhood Intervention (ECI), a service offered by the school districts in Texas. She began speech and physical therapy and still was not reaching the milestones that we had observed in her brothers. Her mother had noticed that at times she would go into a sort of trance and her body would almost go numb on one side. We would ask her doctor about it, but there were no explanations. When she was almost 2, we were on a mini vacation in New Mexico when she had an episode that not only us, but her grandparents witnessed. We took her to the emergency room back home and they ran tests on her for epilepsy and stroke. After spending the night in the hospital and having several scans done, nothing was found.

After further discussion with our pediatrician, we were referred to Cook Children’s Hospital where we met with multiple pediatric neurologists and geneticists. More tests were run and still, we knew nothing. We finally were referred to a pediatric neurologist with Cook’s who specialized in movement disorders. We were told that her symptoms resembled benign paroxysmal torticollis, but her speech and mobility delays still could not be explained. We continued to treat symptoms, but we had no explanation for what was going on. We were referred to do a Whole Exome Gene Test, which came back normal as well. It took a while to accept the normal test results and yet be grateful for them at the same time, but she was still beautiful and perfect with a smile that still beamed with love.

A few days before Christmas of 2016, Eleanor started feeling sick but we thought it was just a virus. On Christmas morning, she was to the point she couldn’t even lift her own head, so we loaded up in the car and made the 4-hour drive to Fort Worth to Cook Children’s Emergency Room. We were told that Eleanor had rhabdomyolysis and that her CK levels were so high they couldn’t even get a good count on them. After spending 58 days in the hospital, Eleanor was finally at a point they would release us to go home.

When we were headed back to Fort Worth for a follow-up appointment in April of 2017, we received a phone call from a Fort Worth number. We were told that when Eleanor was in the hospital they wanted her Whole Exome Test looked at again. Dr. Alice Bassinger, a geneticist with Cook’s, was calling to inform us that they had identified a deleted gene sequence known as Tango2 in Eleanor’s test. Dr. Bassinger told us that we could look it up online, but that it was discovered within the past nine months and there were only two papers on it. They worked us in the next morning to meet with Dr. Bassinger and we got further explanation. We were so thankful to finally have a name for what was going on, but at the same time aggravated because there was no data on the subject.

We searched for others with Tango2, but it was so new that we found nothing. One night, after checking often, Laura stumbled on a Facebook group for Tango2 parents. We have learned so much in the short time we have been members, but most importantly, we know we are not alone.

Eleanor is the hardest working, most motivated girl you could imagine. She has sounds and can be sassy, but she is still trying to find her voice. She has sign approximations, sounds, and gestures she uses to communicate. She is currently learning to use an AAC device to have a full language.

We are full of hope for her future. While she can be a bit bossy, she never met a stranger and always wants to know the name of those she comes in contact with. She is a caring person who usually has her purse in her tote. Her days can be hard, but her testimony is strong.

Delft, Netherlands

Liam

Liam is a three-year old boy diagnosed with Tango2 after a long search of studies and tests.When Liam was one-year old he had his first "attack". He had no control over his muscles and was unresponsive. He could no longer make eye contact and nothing seemed to get through to him. We went directly to the doctor and he sent us to the hospital where he saw a neurologist. Many studies and tests followed. Unfortunately this doctor could not tell us what was wrong with Liam. So we went to another hospital where we came in contact with a different neurologist and clinical geneticist. New research was done with no results.

Eventually extensive DNA research was completed, and my husband and I had blood testing done as well. After a long wait we got the results. Liam was diagnosed with Tango2 in April 2017. The blood tests showed that my husband and I are both recessive carriers of this genetic disorder and that it is the reason Liam has this disease.

We were happy with a diagnosis but also very scared because he was the only one in the Netherlands with this rare disorder. We did not know what to expect in the future. Luckily, in December 2017 we came into contact with other parents through Facebook. There we learned so much and realized how nice it was to be in contact with people who experience the same things we do.

Liam has attacks of muscle paralysis with no control over his body. These attacks can last from half an hour to hours. Fortunately these moments are not painful for him. Unfortunately, the attacks of muscle cramps are all over his entire body. Liam begins to shake and becomes stiff. He also has trouble with swallowing and breathing. We have had to call the ambulance several times to have him checked. So far he has no heart failure or blood sugar problems, but we have to keep a close eye on that. There is a chance that these things will happen which scares us.

Liam goes to a rehabilitation center twice a week where he receives physiotherapy, occupational therapy and speech therapy. It is helpful and he is learning a lot there. In addition, Liam is currently taking a “Mito Cocktail” which is a group of vitamins to help the body improve energy production in the cells. It seems to help him but it does not take away all the attacks.
It would be nice if we could find something through research that would make this condition bearable for all these dear children.

Liam is also a very sweet and cheerful three-year old child. He enjoys life in his own beautiful way. Like any three-year old child, he can be naughty and enterprising. He likes to climb and clamber. Nothing is crazy enough. Liam has a sister of almost 9 years, who he absolutely adores. They love dancing and playing together.

Budapest, Hungary

Mátyás

Our little boy, Mátyás was born in Hungary on March 26, 2014. We waited a long time for him because hypothyreosis and insulin resistance had to be treated prior to becoming pregnant.

My pregnancy was normal until the 12th week when I started taking Levothyroxine for the duration of the pregnancy. The birth was a caesarean. Matyi’s Apgar score was 9/9, and he cried immediately. His development was normal until he was six months old. At 10 months he still did not crawl or climb. Therefore, we started going to a foundation for conductive gymnastics (both movement and skill development). He rose to his knees at 13 months, started climbing at 14 months and could stand up with help at 18 months. He has been able to do a few steps since then with help, but he does not walk alone. He walks on his toes a lot. He can make speech sounds but he can not pronounce words. He will make his wishes known by pointing and making noises.

The first health symptoms occurred at 20 months of age, when he was not able to move. In December 2016 he had a seizure. That was when he first went to the hospital. I was already pregnant with my little girl. The tests did not show anything. From that point on he had many symptoms: unable to stay standing, leaning in one direction, neck tilts to the front or back. He could not go further than four feet. The had a second epileptic seizure in May 2017.There were several EEGs that showed activity while sleeping. In November 2017 he started medication for epileptic symptoms. But in December 2017 he had 3 weeks that were so bad he could hardly eat and drink. So he stopped taking the drug for epilepsy and started to get better again.

Matyi eats 5x daily (breakfast, snack, lunch, snack, dinner). I'm currently giving him a gluten-free diet because I've found that food absorption is better. His stools were inconsistent. He can chew, but fluids often pour out of his mouth. Typically he drinks very little. When he does not feel well, he can not chew properly.

Matyi is a very kind person. He likes to knock down building blocks, but he does not build with them. He likes to swing and his favorite toy is a rocking horse. It always seems to calm him.

He sleeps well at night (typically 8pm to 6:30am). But he has been sleeping less and less during the day. He can be restless at night sometimes whispering or moving his legs a lot.

Matyi currently receives physiotherapy twice a week. His muscles are very tight, particularly the Achilles tendon. Since January 2018 his eyes cross at times. The doctors have been helpful, but they do not know much about Tango2. Currently, Matyi takes LEVOThyroxine to treat hypothyreosis. He also has a vitamin combination including vitamin D, vitamin C, vitamin B12, and Béres drops (http://www.beres.hu/beres/termekek/beres_csepp) as immune enhancers. Other medical tests are currently in progress, as we just received a diagnosis on February 19, 2018. We are still waiting for results of genetic testing on my little girl.

Washington, USA

Cesar

This handsome young man is Cesar. He is 17 years young and he is one of the most loving, funny, caring guys you'll meet. Cesar was diagnosed with Tango2 on April 14, 2017.
Texas, USA

Cohen

Cohen is 11. We finally found out he had Tango2 about 3 years ago after many years traveling all over the US visiting different specialists. He presented at 15 months when he began having atonic seizures that were noise induced. He had a metabolic crisis at 23 months after we put him on the "ketogenic diet" for his epilepsy. Needless to say it was the absolute worse thing we could have done. After 5 days on it he woke up screaming and his blood sugar dropped to 12. He was hospitalized for a month with a CK over 250k. He is the happiest child you will meet. Always a smile on his face despite his daily challenges. He has developmental delays, balance issues and seizures but definitely has a zest for life!
Newcastle, Australia

Harrison W

Harrison is the first child born to Caitlin and Kyle on April 21, 2017. Caitlin had Gestational Diabetes during pregnancy, and Harrison had two-vessel cord but otherwise an unremarkable pregnancy and scored 9/10 and then 10/10 on his APGAR at birth. Harrison had a tongue tie revised at two weeks old and had some feeding issues when starting solids around six months of age that resolved. Harrison developed fairly normally during the first year of his life, meeting milestones within the outer limits of normal until around 11 months of age. Harrison started to cruise, but at 2.5 years old is not yet walking unassisted. Harrison was referred to a paediatrician for monitoring and at 18 months of age was diagnosed with Global Development Delay. Our paediatrician sent us for genetic testing.

We received the news that Harrison had a micro deletion at 22q.11.21 Tango2 and it inherited from Caitlin and Kyle. It was around the age of 18 months to two years old that Harrison started to have “episodes”, where he would completely lose energy and lay on the floor. These would last anywhere from 30 minutes to two hours and as soon as they were over Harrison was right as rain. Since starting on a “mito-cocktail” Harrison has been episode free for several months.

Harrison has had EEG’s, ECG’s, heart ultrasounds, urine samples, blood sugar pricks and is perfectly healthy. At 2.5 Harrison has not had a metabolic crisis, or any symptoms of heart disease or seizure. We check in annually with all the specialists. Harrison does have grommets (ear tubes) inserted, which has made a difference to the amount of illnesses he picks up. He has as slightly lazy eye.

Harrison wears AFO’s and is diagnosed with both hypertonia and hypertonia. He is learning to walk with a posterior walker, yet has little motivation to get up and move because crawling is so effective for him! He can get wherever he wants to go.

Harrison sees speech (is considered pre-verbal), OT and physio weekly.

Harrison loves cars and trucks, adores baths and swimming pools and the ocean. He is a very happy little boy who loves to spend time with his parents, grandparents and friends. He is very kind and will share all of this belongings with everyone he comes across.

Washington, USA

Danny

JUNE 2022 UPDATE - New picture of Danny at 7 years old.

FIRST STORY about Danny
Meet Danny Messerschmidt! He was born on October 29, 2014. He has two siblings also affected by TANGO2 related mitochondrial disease. His older brother Jackson passed away in 2015, and his younger sister McKenna who is almost 2 years old. Danny was diagnosed in September of 2016. There were no complications before, during, or after his birth. He met milestones of rolling over, sitting, and crawling relatively on time. We noticed his head size was tracking small at 6 months of age, and his growth was slowing down but other than this he seemed like a very typical infant. He ate well, slept well, and was very happy.

At 11 months of age, he started having difficulty sleeping and was not eating as well. He had his first seizure shortly after this, a tonic clonic seizure. At this time, development plateaued. His feeding skills regressed, and he really struggled to grow. At age 15 months, he was diagnosed with gastroparesis. He also had swallowing problems. Around this time, we started to see episodes of muscle weakness that had a rapid onset and lasted anywhere from minutes to hours before resolving. Once seizures were controlled well with medication, we started to see development progress again. He began walking at 22 months of age.

At age 2, he received a feeding tube in his stomach, which helped him grow and took pressure off of trying to get him to eat enough and stay hydrated. He experienced significant weakness after anesthesia. It took him two days after surgery before he could bear weight on his legs. He had leg weakness for almost two weeks after surgery but did fully recover. Today, he is two years seizure free and is growing well. He has not required any hospitalizations during illnesses. He attends a special education preschool as well as physical, occupational, and speech therapy for developmental delay and sensory challenges. He loves playing with his little sister and is very social. He loves being the center of attention, and although he has few words, he does a pretty good job of making everyone around him laugh. You can bet he is the class clown at his preschool.

Washington, USA

McKenna

McKenna is 5 years old and attends preschool. She is mainstreamed with typically developing children and also receives special education support including Speech, Occupational, and Physical Therapies. She enjoys school and loves to make her rounds, saying hi to every adult each day. She doesn't seem to care that she is differently abled than her peers and if she is aware, she doesn't spend time worrying about it. At home, McKenna loves playing with her brother Daniel who also has tango2 Disease. She also has an older brother named Jackson that passed away from TANGO2 disease before she was born. She has a love for animals and loves playing with our family dog, Hank. McKenna has a great sense of humor and is always joking around. She loves chasing games and loves watching Blippi (her favorite character, he be found on YouTube). She loves her grandparents and her aunts, uncles, cousins. She loves to take care of her baby dolls and play hide and seek. The only issue is, she forgets she's playing sometimes and never goes to find the person hiding. She's always up for anything and will answer "yes!" With excitement even though she might not fully understand what was asked. Her sense of adventure is contagious. If her brother is hurt or sad, she will bring him his blanket and try to comfort him always.

McKenna was diagnosed with TANGO2 disease in 2016 at around 7 months of age, shortly after her two older brothers were diagnosed. She has a feeding tube for most of her nutrition/hydration, although she does eat recreationally as well. She is developmentally delayed in all areas, and although she has never experienced a metabolic crisis, she has struggled with severe epilepsy which thankfully is now managed well with medication. She has thankfully been medically stable and has not had a hospitalization since 2019. As parents of TANGO2 children, we know this will not last forever. We know how unpredictable this disease is, and we know these good times will not last forever. Tomorrow is not promised with TANGO2 disease. We don't know how her disease will progress, or when it will happen. We do know that we will cherish the good times, always focus on her quality of life, and continue to advocate for her always. We are so thankful for the TANGO2 research foundation funding research in to this disease so we can one day treat this disease!

Adelaide Austraila

Brianna

Meet Miss Brianna, who is 15 years old. We have only just recently (May 2018) gotten our Tango2 diagnosis. Brianna developed normally until 6 months of age - her skull was not growing properly and she was diagnosed with sagitial cranialsynotosis fuse of the skull plates that required surgical intervention. She grew and continued to thrive until we noticed odd posture movements. She would lean to one side, but every time it happened or we reached the hosptial it would go away. Tests were done, but were always negitive.

Then, she had a bad enough episode for doctors to finally see and we got the diagnosis of episodic appendicular dystonia. This has presented differently and infrequently over the years. As Brianna grew older, it became more noticeable that she had global developmental delay with moderate intellectual delay. We started early intervention therapy.
She started school in a special needs unit within a main stream school. Brianna absolutely loves school. She is a caring, friendly and well loved member of her class. She is very routined with school and doesn't like to have to stay home if she sick or have a student free day - she just loves to be at school.

Everything seemed to be okay with the exception of a few bad days with her dystonia and some slurred speech - especially when tired. Then, on January 15th 2018, she couldn't walk at all and was so tired (and sleeping constantly) that I rushed her to Adelaides WCH. After a few hours of tests, her neurologists was desperately trying to figure out what was going on with her. They finally got a urine sample from her and it was black....it shocked me, I had never seen anything like it.

She had Rhabdomyolysis. We could not understand why this had happened to her as she didn't fit the most common causes.... her CK levels were 250,000. IV therapy was started straight away and it was a battle to stop her kidney and liver from failing. For 9 days that battle continued to flush this toxin from her body.

Then on the 10th day, at 4:34 am, heart was suffering severe tachyarrhythmias and she went into complete cardiac failure. The MET team from the Royal Adelaide Hosptial came over to place her on ECMO and transfer her to the RAH intensive care unit were she stayed for another 9 days before the Royal flying doctors transferred her to Melbourne's Royal Children's hospital and specialist cardiac hosptial there. She remained on the ECMO machine for another 8 days We waited and prayed every day that her heart would recover enough to start beating again - the doctors were talking about heart transplants and portable heart machines which was alot to take in. Then a miracle came - her started beating again strong enough to come off ECMO. Then after another week, we could start to bring her out of the coma .

Her body was so deconditioned by everything that had happened to her she had weeks and weeks of rehab ahead of her. We were transferred back to Adelaide and 13 weeks later, we are finally home. Brianna has come along way in this time and we still have a journey ahead with physiotherapy etc.

So, this episode that's turned our lives upside down is how we discovered the diagnosis of Tango2. We're so grateful to know what is going on with Bree, but as we all know, there is much more to learn about this gene and its mutation. Brianna is the sweetest, most genuine caring young lady (slightly biased) and I hope her story helps this important cause and research.

New York, USA

Katie

Katie's senior prom picture 2022.

FIRST STORY about Katie.
Meet our daughter Katie. When you look at Katie you see a typical 14 year old girl, and in some ways she is. She loves music, watching YouTube videos, swimming and just hanging out with family and friends just like other kids her age, but Katie isn’t like every other kid her age. She struggles with something that very few of us have heard of, know much about, or can do anything about.

About a year ago we received a call from one of the many physicians we had seen over the years and we were told that we have a diagnosis. They had our blood on file and were able to link us to others with similar symptoms and the same genetic abnormality. Katie had a diagnosis of Tango2. For years we had been searching and hoping for a medical diagnosis and now we have one. The only problem is that there isn’t much known about Tango2. There is no cure, there isn’t any treatment or pill to take that will make things better for her.

When Katie was about 3 we really started to notice that something was off. Looking back it probably started a year earlier, but wasn’t obvious to us as parents. We thought the stumbling around was because she was tired, her lack of memory was because she wasn’t paying attention. The symptoms that made us call the doctor where that Katie wasn’t able to walk a straight line and her head was tilted to the 10 o’clock position. Off to the ER we went, and after a couple days stay, and all kinds of tests including a spinal tap, CT, MRI, EEG, they sent us home with no answers and all test results were normal. Over the next several years she would have many similar episodes… trouble walking, trouble speaking, trouble sitting up and sometimes trouble with using her hands… each time just a little different. We had visited many doctors but no one could tell us what was happening, why it was happening or treat the symptoms.

In 2013 Katie became very sick; we thought she had the flu, but it ended up being much worse than that. In the middle of the night we ended up in an ambulance on our way to the hospital. Katie was admitted to the PICU and was unconscious for about 2 days, and no one knew why. We weren’t sure if she would ever wake up and if she did we weren’t sure how she would be. We were lucky Katie made it through, some kids have not been so lucky. We started over trying to find a diagnosis. We were off to see new physicians in multiple states with high hopes. We ended up having genetic testing done, still no answers. The doctors kept her sample on file which ultimately led the clinicians to connecting her to others with the same deletion in the Tango2 gene.

We still don’t really know what this diagnosis means for us and for Katie, but we now know we are not alone and find hope in that. Katie will always struggle developmentally and cognitively, but now that we have this diagnosis perhaps we can better protect her from having another metabolic episode and if it does happen again we will at least be better informed and prepared to treat her.

Victoria, B.C. Canada

Olivia M

Olivia is our first daughter, she was diagnosed with tango 2 gene deletion at 7 months old after a metabolic crisis. Since then we have been by her side in the hospital. She is full of life, happy, and forgiving. She loves to be read to and going for walks. She is very forgiving to the nurses in the hospital after they come to draw blood and check vitals. We have had such an overwhelming amount of support from our friends, family, and community. Her diagnosis is palliative, but hopefully with research we can find a cure before her clock runs out.
Saudi Arabia

Mohammed

Mohammed is 14 years old and lives with his parents and five siblings in Saudi Arabia. His brother Zuhair is also affected by TANGO2 and his twin brother passed away at the age of 8 in 2012.
Saudi Arabia

Zuhair

Zuhair is 9 years old and lives with his parents and five siblings in Saudi Arabia. His older brother Mohammed is also affected by TANGO2 and he had a brother who passed away at the age of 8 in 2012.
USA

Mikey

Mikey is two years old, he has a twin sister and baby sister. He was typical toddler but he hadn't started walking but was crawling. After his second birthday, he was slowly losing his motor skills and could not hold down food. On October 2019 he coded in the hospital, while he was admitted for muscle weakness, then he was on ECMO for over a week, and he now has a defibrillator and pacemaker. He's on tube feeds now and has muscle weakness, but they with a lot of therapy and prayer he'll be back to old self again.
Poland

Milena

Our little Princess, Milena, is always smiling, cute, smart, and caring. She loves travelling, playing her musical instruments for fun, jumping on the trampoline, playing in the playground and most of all spending time with her family, especially her cousins, grandparents, and friends 🙂 Just like her parents, Milena is totally crazy about the mountains, loves spending time there, and always gets a good portion of energy from the mountains. 🙂

Milena was born on the 19th of September 2014 in the south of Poland. On the first day of her life everything was fine, but after few days she was diagnosed with VSD and ASD heart defects. The medications she was taking for her heart did not help her and when she was 5 months old, she had open-heart surgery. She was doing pretty well after that, but the surgeon told us she might have a Syndrome (22q11.2 deletion) as she has no thymus which the doctors noticed during the surgery. When she was about 4 years old, we decided to take a genetic test which only confirmed DiGeorge Syndrome.

Long before that diagnosis Milena started to have a speech and physiotherapy because she had some difficulties in saying first words and walking as well. She started to walk at the age of 3. Despite we had the diagnosis of DiGeorge Syndrome we somehow knew that something more was wrong because she was having the episodes of weakness which no doctor could explain or even understand. Those episodes started when Milena was about 16 months old. Most of the time she was doing fine, was cheerful and happy, but from time to time she would become extremely fatigued, she could not say a single word, sit straight, grasp toys, or even eat or drink. It usually lasted for about 2 hours and she would wake up in the morning. Sometimes it happened once a week, sometimes more or less often, but almost always after a fever. No doctor could tell us what makes her so weak and sleepy because all the blood tests, including the glucose level, were always normal.

The turning point came in February 2020 when Milena fell sick with a severe viral infection (probably Covid 19, but there were no tests for Covid at that time in Poland). The infection included pneumonia and a very high fever which lasted for about 6 days. She would take antibiotics and after few days everything seemed to get back to normal, but our little princess was weaker and weaker, she did not want to eat or drink much so we took her to the hospital and the blood tests just shocked the doctors! Her CK was at the level of 160,000 and she had very high levels of transaminases as well. After two days in the hospital she fell asleep and woke up only after 4 days in Intensive Care where she spent 7 days altogether. It was her first metabolic crisis. She was lying down in bed not moving a single finger during the first days after she woke up, but during the following weeks she regained all her abilities and skills that she had before the crisis. Thank God, even though she had heart surgery (or maybe thanks to it?), she had no cardiac complications during or after the crisis. She fought a harsh battle and she won it.

Our doctors started to look for the reason for the crisis and one of the doctors told us about TANGO2. After about a year we got an official diagnosis. It was May 2021. Our geneticist told us that Milena is the only one in Poland who has been diagnosed with TANGO2 so far. We got some crucial pieces of information on what can cause her crises and how to react if one happens in the future, which is basically eliminating proteins from her diet and giving 10% glucose (about 2 liters per 24 hours). Despite all the information we had about TANGO2, we could not save her from having the second crisis which came in November 2021, almost two years after the first one. However because we now knew how to react during the crisis, the second one was much lighter than the first one and Milena was doing pretty fine, leaving the hospital after about 3 weeks.
In February we decided that Milena should have a PEG tube because after few years of a constant struggle to make her eat and drink more, we now know that she was not sufficiently meeting her needs. Through the PEG, she will mostly get hydration and nutrition because she is not able to eat and drink much -- especially during the episodes of weakness. We would like to start giving Milena a mito-coctail which we hope will help her to stay in a good condition and keep her smile on her beautiful face forever!

We are more than thankful for the TANGO2 Foundation for your research and huge support of our unique children and their families!

Victoria, Australia

Annie

Annie is two years old and she radiates joy. She loves music, dancing, bubbles and feeling the wind on her face. Everything is such a wonder to her. It is such a pleasure to watch her discover the world. She just loves to be here. She is a shining light of hope and a constant reminder of how precious our time here on Earth really is.

Annie met all milestones until around 12 months, a bit of a “late bloomer” but she always got there in her own sweet time. She hit a bit of a development plateau from around 14 months. Around the same time her weight started to decline slowly, and she did look pale often, but all health professionals I asked said to monitor her but not be worried.

I can see now that she started to have episodes of muscle weakness and severe fatigue around 16 months old. She would be sitting independently and then slump forward unable to support her torso or head. Then after a period of rest (and sometimes a feed) she would bounce back and to be honest I often wondered if I had imagined it.

She had her first metabolic crisis on Christmas Day 2020 aged 18 months. After a bout of vomiting (we still don’t know what from) she was unresponsive, and paramedics rushed us to Emergency at Royal Darwin Hospital. Her blood sugar was dangerously low, neurologically she was very vague and physically she had low muscle tone and was leaning to her right side. What saved her that day was that the paramedic that attended put an IV line in and started giving her glucose and fluids. After a couple of weeks in hospital, endless tests, EEG’s and an MRI we left hospital with no real answers but a little girl who was recovering well.

In March 2021 following her meningococcal vaccine and associated fevers she had another episode of severe ataxia, vagueness and loss of muscle tone. After repeat EEG (some seizure activity shown) and MRI (all clear) we were started on anti-seizure medication and diagnosed with Epilepsy.

Adjustment to the anti-seizure medication (carbamazepine) was rough. Annie was very drowsy all the time. We battled it for 2 months, just finding some level of normalcy when the dosage would be upped, and we would start all over again. She continued to have seizures and periods of muscle weakness during this time.

In June 2021, just before her second birthday she got gastro and after 14 hours of vomiting and not tolerating any fluids we took her to ED. She continued to decline in the days after our admission. With no answers to the ever-increasing questions, the doctors cast the net wide with their testing and discovered elevated CK levels, low thyroid levels, low blood sugars, a prolonged QTC (heart arrhythmia), severe ataxia and a declining neurological state. Her CK levels peaked at 275,000 and her heart and kidneys were just holding on. So were we. Those dark days of feeling our little girl slipping through our fingers as we held her and not knowing what to do were the hardest days of our lives.

There was no pediatric ICU facility where we were and she was too unstable to transport so we bunkered down and prayed for a miracle and minute by minute, hour by hour, day by day, week by week we got one. After bouncing in and out of hospital for 4.5 months Annie turned a corner and stabilized.

Annie has now been seizure free since October 2021 (now on Keppra) and up until last week hadn’t had an episode or hospital admission. We have moved to be closer to the Royal Children’s Hospital in Melbourne to better support her and her condition. She has an NG (nasal gastric tube) and we are awaiting surgery for a PEG.

Annie has some speech and developmental delays, is still a little unstable on her feet but she is here, and she is amazing. Just like all of our TANGO2 warriors, they are the definition of courage, of joy and of hope.

FIRST STORY about Katie.
Meet our daughter Katie. When you look at Katie you see a typical 14 year old girl, and in some ways she is. She loves music, watching YouTube videos, swimming and just hanging out with family and friends just like other kids her age, but Katie isn’t like every other kid her age. She struggles with something that very few of us have heard of, know much about, or can do anything about.

About a year ago we received a call from one of the many physicians we had seen over the years and we were told that we have a diagnosis. They had our blood on file and were able to link us to others with similar symptoms and the same genetic abnormality. Katie had a diagnosis of Tango2. For years we had been searching and hoping for a medical diagnosis and now we have one. The only problem is that there isn’t much known about Tango2. There is no cure, there isn’t any treatment or pill to take that will make things better for her.

When Katie was about 3 we really started to notice that something was off. Looking back it probably started a year earlier, but wasn’t obvious to us as parents. We thought the stumbling around was because she was tired, her lack of memory was because she wasn’t paying attention. The symptoms that made us call the doctor where that Katie wasn’t able to walk a straight line and her head was tilted to the 10 o’clock position. Off to the ER we went, and after a couple days stay, and all kinds of tests including a spinal tap, CT, MRI, EEG, they sent us home with no answers and all test results were normal. Over the next several years she would have many similar episodes… trouble walking, trouble speaking, trouble sitting up and sometimes trouble with using her hands… each time just a little different. We had visited many doctors but no one could tell us what was happening, why it was happening or treat the symptoms.

In 2013 Katie became very sick; we thought she had the flu, but it ended up being much worse than that. In the middle of the night we ended up in an ambulance on our way to the hospital. Katie was admitted to the PICU and was unconscious for about 2 days, and no one knew why. We weren’t sure if she would ever wake up and if she did we weren’t sure how she would be. We were lucky Katie made it through, some kids have not been so lucky. We started over trying to find a diagnosis. We were off to see new physicians in multiple states with high hopes. We ended up having genetic testing done, still no answers. The doctors kept her sample on file which ultimately led the clinicians to connecting her to others with the same deletion in the Tango2 gene.

We still don’t really know what this diagnosis means for us and for Katie, but we now know we are not alone and find hope in that. Katie will always struggle developmentally and cognitively, but now that we have this diagnosis perhaps we can better protect her from having another metabolic episode and if it does happen again we will at least be better informed and prepared to treat her.

Western Australia, Australia

Daniel

Our 9-year-old son Daniel is the funniest lad you'll ever meet. So caring, kind and boisterous. He is beyond clever. He loves music and rocking out on a daily basis. He also loves swimming, the outdoors and his family. He takes care of his mum -- emotionally, so much.

He struggled with signs and symptoms for 5 years before a diagnosis. (2013-2018). These symptoms can be seen as excessive drooling, severe fatigue, slurred speech and decreased mobility and motor skills. Diagnosis was in 2018 after a fluke running of tests. Our paediatrician wanted to "just see what came up" and TANGO2 did.

A handful of hospitalizations and nearly losing him to TANGO2 complications (i.e. early stages of heart failure, CK levels of 350,000 and being resuscitated twice in one day) in 2019 made us hold him tighter than before and believe bigger thoughts of hope. He fought, and he fought, and he survived something huge.

The biggest issues we have are honestly living the unknown with cardiac complications, rhabdomyolysis and CK levels hovering over us from the past.

Regular check ups help with that though - we see a neurologist, metabolic specialist and cardiologist every 3-6 months as well as a dietician. His mito cocktail makes up a big part of Daniel's success and recovery from 2019 - since then, he was required to also have a PEG tube put in place to assist with his nutritional intake. We wouldn't be where we are now without them and the current studies we have on the disease.

Daniel, in my eyes, and many of our family members, is a true miracle and always will be.

Our journey is complicated and long, yet it is worth knowing about. This is just a snippet into our life and our past.

But our present and our future are so bright as we still have Daniel with us and he is as healthy as he has ever been. He is thriving, he's in school getting an education and he is loved. He loves his life and seeing him so grateful makes it easier living with TANGO2.

Springfield, Virginia, USA

Nusaiba

Nusaiba is a very happy 5-year-old child who demands love and affection. She has no interest in toys or objects. She just loves to be around people. Sometimes she does like to pretend-play cooking with pans and pots.

Her personality is very friendly. She likes to share her toys with everyone but her little sister. She always wants her sister to be around her, but no sharing.

Nusaiba was born 18 days early. She was born underweight -- only 4 pounds 11 ounces.

She was late at reaching her milestones from the beginning. She was able to sit up properly after she was 9 months old. She couldn't walk until she was 18 months old. Her first words came after she was 1 year old. We didn't really worry too much because family and friends kept on saying every child is different and some just are slow in the beginning but will eventually catch up.

After her second birthday, Nusaiba started to tip toe and started having gait issues. She started PT and when she was 3 we gave her Botox and AFOs. Her walking was getting worse and worse. We repeated the Botox and did serial casting. She did walk for a month or two, but then started to lose balance and began to crawl. She just crawls now at home and sometimes uses a gait trainer at school. She is extremely spastic on her both legs.

Her few words that she had were also disappearing after her second birthday. She had an MRI, lot of genetic testing, but no result tied to her actual disease.

She also had her first episode when she was 26 months old -- only for a few minutes. We had no clue what was going on. We put her to rest, and she woke up normal. Then she started to have her episodes of drowsiness every six months and gradually it started to happen every day where she cannot open her fists, she keeps on stretching her body, she loses control of her head and cries. These episodes only occur to Nusaiba between 11am and 2pm. So far, I have never seen it happen in the evening.

At around age 3.5 years, doctors gave the diagnosis of Cerebral Palsy. No doctor could figure out what was happening and why Nusaiba was regressing. She has been taken to so many doctors. After revisiting the genetics team when she was 4.5 years old, we were offered to have the exome test done and a few weeks later, a genetic counselor called with the results and diagnosis of all her issues --TANGO2.

She has never had seizure or metabolic crisis until her 5th birthday on January 29th of this year (2022). Our poor girl had to be in the hospital on her birthday due to her first seizure in life. She was unresponsive for almost 19 hours.

It has been challenging to raise her. It’s very challenging when a person is both physically and mentally hit hard. Being nonverbal makes it even harder. Every day is a test for me and my family now. Her smile does help to wipe out the pain that we have to go through.

I pray and I hope there will be a cure out there soon where my daughter will be back on her feet and will not have any of the pain that she and other TANGO2 patients are going through. I’m hoping for that miracle to come for us.

Ohio, USA

Aislynn Rae

Aislynn is 15 months old. We call her our little ray of sunshine because her middle name is Rae. She is so "rotten." We call her rotten because she was always getting in to everything before she got sick. She would get into the silverware in our dishwasher. She would unfold clothes that I was folding on her floor. She was just being a cute, rotten baby and we really missed that side of her in the hospital. Rae loves music. She will dance to any beat and loves playing with her older sister. Our girls are so close with one another. They are two years apart. We love camping and swimming. We just hope that our Aislynn will be able to continue to do the things she loves with this diagnosis.

The diagnosis of TANGO2 for Aislynn came two weeks after she was admitted to Cincinnati Children's hospital. Up until this point, she has developed normally. She met all milestones besides not walking yet. But our pediatrician wasn't concerned with how she was growing. I was actually in the hospital with my other daughter Adelaide who was being treated for Kawasaki disease when my husband calls me and tells me that Aislynn won't wake up from her nap. After rushing her to the emergency room and being transferred to the children's hospital, and so many tests, our genome sequencing results revealed her diagnosis of TANGO2. With her being unresponsive and her blood sugar dropping so low, she has a lot of brain damage. We're not sure what her recovery will look like yet. We are still in the ICU.

Devon, United Kingdom

Otis

Even in the womb (being a breach baby), Otis decided he was going to do things his own way. We had a normal start to life as a family, as normal as could be in a not so normal world full of lockdowns and coronavirus fears. Otis was meeting all his milestones with ease and we really felt as though we were nailing this parenting business.

Otis is 2 years old now and has grown to be a wonderful little boy with a smile that can melt your heart into a puddle of joy. We are in awe of his loving, gentle and kind nature, his playfulness and tight cuddles. Otis hasn’t had many opportunities to play with other children but he will be sure to capture the attention of adults and flirt relentlessly with nurses and consultants regardless of the distress of having a cannula inserted. He is so brave and forgiving.

Otis has a love of music and the sea. He will happily strum his ukulele and sing or make a dash for the water at any opportunity. He loves nothing more than to make people smile, Otis has so much happiness to share.

When Otis was 13 months old he had his 1 year immunization jabs and a visit from the Health Visitor for his 1 year review. She was happy with his development and we discussed his night feeding. She explained that night feeds were no longer necessary and that to continue was more for my comfort than for his benefit. We took her advice and my partner settled Otis when he woke for his feed instead.

The following morning our lives changed forever. Our little boy woke as normal and I brought him to our room for a feed as I would usually do. Although this time he didn’t take his feed and went back to sleep in my arms briefly. I assumed he may have been more tired than usual due to the change in our routine. When he stirred I took Otis to his room to change his nappy and clothes. On the way he let out a groan and vomited green bile-like liquid down my arm. Otis was never a sick baby so this immediately caused concern. I lay him back down and he became unresponsive. We rushed him to the hospital.

Upon arrival Otis was taken out of my arms and taken away through the Emergency Department to the resuscitation room. Before we could follow we were warned that there would be a lot of people with Otis and it might be a shock. Going into that room was like a gust of frenzy. There must have been 10 or more medical staff from different departments all frantically trying to revive our little boy. He would not wake up. Tubes, monitors, leads, everywhere. It was like being in the middle of a film set except there wasn’t a director calling cut. We wanted this to stop, it didn’t feel real but the scene just kept playing. It was horrific.

No one could explain what was happening or why it was happening. The more questions we asked, the darker the answers we received. I asked if he would wake up and if he might die. The response we received was not what we wanted to hear. I stopped asking questions after that because everything was out of my control. We needed to keep strong and pray for Otis to be ok.

It was explained to us that it looked as though Otis was experiencing metabolic acidosis and they administered bicarbonate to try to balance it out. At this point Otis was scoring 7 on the Glasgow Coma Scale. Coma. Our little boy was in a coma. It was decided that he needed to be intubated to keep him stable and transfer him to the nearest specialist children’s hospital which was an hour and 45 minutes away. Otis was taken by ambulance and we followed behind by car. I don’t know how Simon managed to drive us there. We were both so scared that Otis might not make the journey. When we arrived at the Paediatric Intensive Care Unit (PICU) we were given an opportunity to hold Otis’ hand while he lay quietly being monitored with leads connected from head to toe. He was so still, I recall quietly feeling for, hoping for any slight twinge in movement from his fingertips to mine, any indication that Otis was still with us. Hope was all we had, it was everything we had.

The following morning after staying at the hospital, I went to see our little boy. Due to Covid the PICU ward had a one-parent policy for visits. I was met by a nurse who told me Otis had caused quite the scene by removing the intubation himself. He was awake!! Flooded with relief I held our little boy so close but delicately as he was wrapped in a variety of cables. We are so grateful he woke up. Our fears didn’t end there -- what we didn’t know was that they were just beginning.

We spent two weeks in the hospital while Otis was being monitored, tested and given time to recover. The metabolic team had given Otis the diagnosis of VLCAAD, a condition where very long chain fats cannot be processed by the body. After NG tube feeding training and guidance on how to manage and treat this condition we were sent home together and started to get our heads around adjustments we were to make together as a family.

Simon received a call 3 months later from our metabolic consultant. She explained that following blood results Otis does not have VLCAAD but will need further testing from the genetics team to establish what it could be. We were back to square one with no idea what we are facing. Full exome sequencing testing took place and another 4-week wait to find out what we were up against. “Hope for the best, expect the worst” we were told.

June 9th 2021 we met with our metabolic team and genetic counsellors who explained to us that Otis has been diagnosed with TANGO2. We had no idea during the meeting if this was the best news or worst news as no one had ever heard of this disease before. You would expect your doctors to arm you with knowledge and to answer any questions about a new diagnosis. However, it soon became apparent that we would be joining Otis’ medical teams to try and research this rare disease and keep them up to date with anything we learn. We are all still learning.

We are so grateful to the TANGO2 community for your support and to the TANGO2 Research Foundation. It is thanks to you, the scientists and our fund and awareness raisers that we continue to have hope for Otis and his fellow warriors. There is nothing more we wish for than to discover treatment for this condition so Otis can live a fulfilled life full of health and happiness and continue to share the vast amount of joy he so loves to give

United Kingdom

Sebby

Sebby, our 10-year-old son, is a cheeky, happy, caring and empathetic young man. He loves swimming, unicorns, horse riding, all things farming, playing outside and going to school. He enjoys baking and gardening too. He is really interested in other people and likes to look after them by getting them drinks and snacks! He just loves to be helpful.

We first noticed wobbly episodes in Sebby at around 14 months. He would have trouble standing, became very lethargic and showed weakness on one side. His development began to really slow down at this point and he stopped meeting developmental milestones. He had repeated episodes of extreme fatigue, one sided weakness and head tilts. He had a number of tests and investigations, all coming back clear. We saw many professionals who could not figure out what was happening.

Eventually we were entered into some genetic research to try and look for a rare condition. Finally, 6 years after entering the research trial a result came through and he was diagnosed with TANGO2. Sebby needs support with most aspects of his development, including mobility, speech, learning, motor control and his health. He is remarkable! He is such a resilient boy who has a smile and laugh that will light up any room.

We focus on Sebby doing the things he loves and developing his skills of independence and learning. We hope that the research happening will help to promote the health of all of our young people and for professionals working with our community to better understand the disease and be able to efficiently and effectively treat and support TANGO2.

Washington State, USA

Harley Nova

Harley is a spunky 19-month-old little girl with a huge light to shine on everyone. She is very kind with lots of love & cuddles to give while always smiling & laughing. She loves to be outdoors playing with her dogs, and the trees always put a smile on her face as she loves anything and everything outdoors! Daddy's dirt bike has always been a peak of interest. She smiles so big and gets beyond excited whenever he starts that yz250. She even loves to go on rides! Music is another thing Harley Nova enjoys beyond measure. There would be no car rides if there weren't tunes going for her to hear!

Harley met most of her milestones. She was a little bit slower to get crawling down and was just starting to hold on to things and walk all over. She then started to experience brief moments of ataxia where she would fall on the ground and get so frustrated that she couldn't get up or move the way she wanted. This happened a few times before Harley went into her metabolic crisis. We were out for a great family day on the utv trails, something we love to do together! Harley was feeling great that day with no signs of discomfort. She didn't even seem to be having a hard time with teething. About an hour after dinner, we put Harley in her car seat to get ready to head out for the night. Thirty minutes later Harley awoke and had thrown up a tiny bit. I rushed her out of her car seat to assess the situation at hand. I got her water and cuddled her to help her feel better. That was the last time I saw Harley Nova awake.

Once we got home, we put her down to bed. We had had a long day so when she didn't awake right away that wasn't unusual. The next morning, we tried to awaken Harley and she would not wake up. We rushed her to the Emergency room where they did lots of tests, drilled into her shins for fluids, and got her ready to be life flighted to Seattle Children's Hospital. For about 2 weeks we didn't know what was wrong with Harley. They believed she ingested something because her lactic acid was so high and sugars had dropped so much. With her being with us all day in the car, there was a very slim chance that she had gotten into anything! They took lots of tests and at this point everything came back normal.

They then decided to run the gene sequencing tests. A few weeks later we learned that Harley was diagnosed with the very rare, life-threating disease called TANGO2. This was a huge shock for us but in this case, we felt an answer was better than none. We are still receiving treatment for altered mental status, increased pressure in the brain and to optimize seizure medication.

We are on the path to go home and very optimistic with the strides she has been showing us! Our hope as a family is to just keep moving forward and live the best quality of life possible.

Spain

Nora

Nora is a very brave four-year-old girl. She teaches us to live from day to day and to make the most of all her progress during the moments she spends with us and her 9-year-old older sister. Nora is unique in all aspects of her. She loves to dance, play with dolls and laugh a lot. She is happy! She is a very loving and nice girl! We fully trust all the research that is being carried out on TANGO2. We know that there are professionals full of intuition working daily to find a treatment for our little heroes and that is why it is important to support the research. Thanks, with all my heart.

When Nora was born, we never imagined that such a special child would come to us! The first months of her life were completely normal. She only had a slight psychomotor delay to which no doctor gave importance... But when Nora was about 8 months old, she started having a parkinsonian tremor in her neck and then we knew something strange was happening to her.

Once this symptom passed, everything returned to normal, although in my heart the intuition that something strange was happening was already emerging.

During the following months and up to two years, she had two minor falls that triggered a fatigue attack with lethargy and excessive sleepiness that required hospitalization as she spent up to 4 days without waking up. At two years old she started with her first major movement disorder attack in the form of torticollis and her neck and head tilted up in a very strange way. That's when we realized that she was really sick.

Subsequently, these movement disorders recurred in different ways. Her neck turned up, her body leaned sideways, her legs became stiff, and there was instability as if she was dizzy and unable to walk. All these symptoms disappeared with time. She would rest and sleep and wake up again as a completely happy and normal child.

So, I had to record many videos of her to be able to show these disorders to the doctors since it was difficult for them to understand what we told them. They were as surprised as we were by everything. All the tests that she had done up to that point came out fine and unaltered (MRI, cerebral computed tomography, lumbar punctures, metabolic analyses, evoked hearing and sight potentials, electroencephalograms, etc.).

It was then that they began to study her genetics. It was there that it was discovered that there was a deletion in the TANGO2 gene on her maternal and paternal side, which is why she suffered from this rare recessive genetic disease.

We would never have imagined that Nora would have such a serious illness since she is a very active and happy girl despite a psychomotor and language delay.

Querétaro México

Sergio

Sergio
Querétaro México
Sergio Alejandro is 10 years old; he is a very cheerful and very tender boy. He loves animals, he cares about others, he likes music, dancing, art, playing video games, archery, going to the beach (but he doesn't like the feeling of sand) and he is a very good swimmer (in pool).

From birth to 3 years there were no symptoms, his development was apparently normal. From this age he started having vague and very general symptoms such as delay in language and social level, he preferred individual activities, he stumbled when running, most of the times he got tired faster than other children, he had shorter attention span and poor structuring in school activities, even so with the help of therapy he learned to read and write well.

It was until he was 5 years old that he began with symptoms such as loss of balance, gait and language alteration in a very evident way. These episodes lasted seconds or minutes and were sporadic until they became daily and constant.

He was 6 years old when the first well-established crisis happened, which lasted 45 minutes. There was weakness, gait disturbance, language disturbance and loss of balance with contracture of the right hemithorax backwards, presenting a subsequent cognitive decline reflected in school activities, mainly mathematics. From that moment on, multiple studies were carried out, all being normal, and until July 2019, the second crisis with weakness, gait and language disturbances, loss of balance, dysphagia, hiporexia, and sialorrhea did not present again, in addition to abnormal laboratories and electrocardiogram due to what we were referred by neuropediatrician with metabolic geneticist and cardiopediatrician.

Sergio was diagnosed with TANGO 2 in October 2019. Accompanying this condition is QT interval prolongation and dysarthria. Until today he is the only one documented in Mexico with this condition. In May 2020 he had a 3rd crisis with a very good recovery and since then he has been stable without any episodes. Sergio has not been hospitalized.

His mitochondrial cocktail is based on vitamin B1, B2, E, C, D3, K, Omega 3, COQ10, 30% Levocarnitine and Propranolol for his heart. Eats every 2.5 hours mostly the diet is carbohydrate monitored by his nutritionist. He has always remained within normal weight and height percentiles for his age. He has cognitive behavioral therapy, physical therapy, language therapy and structure of communication and swimming.

Sergio goes to primary level in normal school with constructivist methodology accompanied by a teacher guide because the structuring is very complex for him and some days needs to remind (or repeat) things he had already learned. Now he is aware of when to stop his physical exertion and rest, when he needs to eat, and when to take his supplements and medications.

Sergio has a younger brother named Elias and he does not have the disease. Elias is now taller and stronger, he helps to take care of Sergio.

We are grateful to be part of this foundation and to find this great family from whom we receive a lot of information and support. We understand and share what other families go through. We are here for you too. And like everyone else, with the expectation and confidence that researchers and scientists will find a treatment that can lead to a cure.

Melbourne, Australia

Asha

Asha is a beautiful, kind and loving young woman with a wicked sense of humour. She is 26 years old. She loves her family and carers, her animals, babies and music, especially heavy rock. Asha has a pure and peaceful soul and animals and people love being around her and basking in the glow of her beautiful smile or being infected by her happy laughter. Despite her many challenges she always manages a smile, is very empathetic and caring and loves to help people in any way she can.

Asha was born via emergency c-section after a 48 hour labour; she had contracted pneumonia during the long birth and spent time in the NICU on oxygen and antibiotics. Ash started having seizures as a baby but these were not recognized as such till she was older. Her head stopped growing at around 6 months and by the time she was 12 months old her head was below the 2nd percentile. At around 10 months we noticed she was not meeting milestones, the doctor told us to come back in 6 months but Asha started having episodes of fatigue, drooling, leaning to one side, inability to sit up and acting as if she was sedated. These episodes happened within an hour of her waking and lasted for about an hour and left her lethargic and moody for most of the day. It was really difficult to get doctors to see it as we didn't have phones with cameras in those days and no one believed us. One day a nurse saw an episode and said it looked like a TIA.

Ash was eventually started on Carbamazepine, as the doctors thought it was seizures. She had terrible side effects and cried non stop so we stopped that drug and tried Sodium Volproate which seemed to help her stiffness and seizure type episodes but not the (what we now know) are TANGO2 fatigue episodes.

Over the next few years Asha saw lots of different specialists, she had MRI's, EEG's, blood tests etc. and was prodded and poked endlessly. She was diagnosed with epilepsy, Cerebral Palsy, microcephaly, paroxysmal dyskinesia and developmental delay. We started early intervention therapy when she was 2 and worked really hard to get her to walk (at 2.5 years), communicate (taught her signs as she couldn't articulate) etc.

Ash had a lot of problems with eating solids and would get tired very quickly when eating and her tongue would just stop working and food would get stuck in her mouth or throat and then she would throw up. We realised we had to feed her small amounts constantly to get enough calories into her. She also needed bottles of formula overnight and would wake at least 5 times a night needing help to move into a comfortable position or to be fed, she didn't sleep though the night until she was 4. Feeding Ash was my obsession, we made sure she had access to food all day long and when she went to school (special school) we had to fight with the school to get them to allow her to eat at any time and to make sure they fed her all the food we sent to school.

When Ash was 6 or 7 she stopped growing, she had always been on the 100th percentile for height and started dropping percentiles; eventually we discovered her thyroid had stopped working so she was put on thyroxine and started growing again. At around the same time she had started developing horrible side effects from all the seizure meds which we were giving her to try to control the episodes she was having, some seizure type episodes were controlled by the meds (sodium Volproate and lamotragine) but the TANGO2 episodes were not controlled although they were not as bad as they had been when she was younger. We decided to take her off all meds and give her glyconutrients, Ash was so much happier off the medication, her episodes reduced and we had three years of her blossoming, talking more and being really active and happy.

We decided to have another child and after further genetic testing on Ash we were told her problems were not genetic and probably from her birth. When our second child was born we were not as focused on Ash and got a little sloppy with giving her the glyconutrients and multivitamins and then out of the blue one morning she had a tonic clonic seizure and stopped breathing., she was 10 years old at this time. She had three more tonic clonic seizures over the next couple of months and was put back on sodium Volproate, and we eventually added Topiramate. By this time we were entering the tween years and Ash was growing quickly and started having more fatigue episodes, more choking and was very skinny and it became increasingly difficult to maintain her weight. Asha had always had a lot of difficulty with swallowing and food getting stuck in her esophagus and eventually at 17 she was diagnosed with eosinophilic esophagitis and after various food trials we determined she was allergic to dairy, soy and eggs.

Asha’s seizures have increased over time and she has been diagnosed with Lennox Gastaut syndrome and is on 4 different epileptic meds (sodium Volproate, topiramate, Frisium and Perampanal) sadly she is still having epileptic spasms on a daily basis.

As far as we know Asha had only had one metabolic crisis, a few months before her diagnosis with TANGO2 so we thought she had a bad seizure and treated her at home, she crashed and couldn’t walk unaided for 6 weeks and was very lethargic but we had been fobbed off at hospitals so many times we just decided to feed and hydrate her and care for her at home.

Last year we made the decision to have a PEG put in to make feeding Asha easier and so that we could get all her supplements into her. Feeding Asha has always been a mission and a cause for much stress and trauma so the PEG has been a blessing. Sadly Asha ended up having a metabolic crisis when it was put in due to the hospital arguing with me and mismanaging her feeding so she went into a catabolic state.

Ash was diagnosed with TANGO2 in January 2020 after taking part in a study to find a genetic cause for epilepsy. The diagnosis came as quite a shock because we had been living in ignorant bliss of the seriousness of her condition.

I am so grateful that I had the instinct to feed Ash constantly and that she has been strong and healthy over the years. I know that she is one of the older people with TANGO2 but I like to think that there are a lot more older adults out there living with TANGO2 who have not been diagnosed yet.

From reading other peoples' posts and stories, I see that some TANGO2 kids are more capable than Asha in many ways and I feel that the sooner a child is diagnosed and the more research that is done the more hope there is for young people to get the treatment they need to minimize the damage from this disease.

I hope that Asha’s story gives hope to other TANGO2 families. It is a scary, emotional and exhausting journey raising a child with a rare disease but it can also be the most rewarding and meaningful thing you do with your life. Asha is a precious soul and brings so much joy to our lives, despite the fact that she is a high maintenance princess 👸 😂 We would not change her in any way except to use all the information we can get our hands on to help make her life easier.

Indiana, USA

Collin

Collin is a very happy teenager. He loves life and his people. Collin loves his family, music, cars, playing basketball, riding his bike, jumping on the trampoline, swimming, and cheering on the Ball State Cardinals at their home basketball games. Collin loves school and makes friends everywhere he goes.

Collin was born about 6 weeks early and spent a couple of weeks in the NICU. He seemed to be a healthy and typically developing baby during the first year, with the exception of not walking independently. His pediatrician assured us that this was not something to be concerned about and that all babies develop differently. Just before 18 months, we began in-home therapies. Collin was still not walking, and it was becoming more clear to us that something was wrong. He was not developing like typical babies. Just before his second birthday, Collin had his first seizures. At that time we were referred to a pediatric neurologist, and we began the years-long search for a diagnosis. We saw many specialists, and Collin had many tests, with no answers. Collin continued therapies, and to our delight, began walking on his own! Every day seemed like a gift, and we were so proud of our boy. Eventually Collin was even able to stop taking seizure medicine, and for around eight years, he was seizure-free. However, he kept having what we called "drowsy episodes." He would lose muscle control, drool excessively, slur his speech, lean and sit in odd positions and act so drowsy. Nothing we did seemed to help. After more tests, we ruled out seizures, but his neurologist wanted us to try levocarnitine and a multivitamin to see if that would help. They helped tremendously and eventually those drowsy episodes became less frequent and ultimately went away.

Just before Collin's 13th birthday, he began having seizures again. Our tenacious neurologist was determined to find a diagnosis and ordered EXOME testing. About six months later I received a phone call from the doctor with a TANGO2 diagnosis. Collin’s seizures are under control, and he is currently a growing and developing teenager. We are grateful for each day and the gift that is our Collin.

Long Island, New York, USA

Lilian

Lillian loves dancing and playing with her sisters and cat. She is a sweet, loving, kind, and playful. She is always happy and smiling. She was meeting all her milestones except walking.

When she was 15 months old (September 26, 2020) I woke up and she was unresponsive. We immediately called the ambulance and they checked her blood glucose level and it was a 33. We were rushed to Stonybrook Children’s hospital where they immediately started doing whatever they could to keep her stable. She was kept sedated for a week. When they stopped the sedation, she woke up and almost immediately was back to the same Lillian she was before. We stayed another week for monitoring. While she was in the hospital, she had a irregular heart beat (a long QT) so when she was discharged she had to wear a wireless heart monitor for a week to see how her heart was.

Two weeks after discharge is when we got the results back with the TANGO2 diagnosis. Lillian had a second episode (December, 31 2020) of low blood sugar that resulted in hypoglycemia. We were discharged after 3 days of monitoring. The day after being discharged we got Lillian a Dexcom g6 and haven’t had any major incidents since.

Now Lillian is 2 1/2 years old and thriving. She is walking and loves to climb. She dances and plays with her sister like any other child would. You would not know anything was wrong with Lillian if you spent time with her. She’s incredibly strong and brave.

Greece

Marina

Marina is a happy 2-year-old girl. She likes to play with people more than playing with toys. She loves songs for children and cartoons. She always smiles. She also likes to be on move like being in the car.

Marina was born like a healthy baby. She always liked to eat a lot and nothing seemed to be wrong with her until the age of 8 months. She didn't wrap toys easily but it didn't seem to make doctors worried. At the age of 8 months old she was vaccinated with the meningitis vaccine and exactly the same night after the vaccination, she began to have drowsiness and made unusual movements with her eyes. This led us to seek to find out what was happening to her. She did not need hospitalization and after a few days she recovered from drowsiness.

But eye movements continued to occur and she often looked tired. Initially she was misdiagnosed that she had an autoimmune disease. Electroencephalograms, MRI scans and many other tests were performed, all of which came back normal. Eventually we were advised to have a genetic test. The initial results were normal for her genetic code, but whole exome sequencing analysis showed a mutation in the TANGO2 gene. Initially, the doctors, not having much experience with this disease, considered that the phenotype of Marina did not match the TANGO2 disease. However, having not found anything else to explain the delay in her development, they agreed that this was the diagnosis. In the process, she showed mild hypothyroidism, dystonia in her legs while she has some episodes of fatigue and muscle weakness. Although she has a neurodegenerative disease, she seems to be developing slowly but in a good way.

She is now 2 years old sits stable, stands with support, plays in a very immature way, and says only baby expressions. She takes a vitamin cocktail which contains a complex of B vitamins, coenzyme q10, l- carnitine and DHA OMEGA. We hope that she is going to do things in her own way and in the end she will walk independently. She continues to eat well, seems healthy until now, and she hasn't had a metabolic crisis so far.

Hopefully we found a group on Facebook, which was made by TANGO2 parents. They helped us a lot. They suggested the vitamins cocktail and they help us anytime we need help. Doctors at the University of Houston also help us when we email them. It's not easy to deal with a rare disease and we are scared of the future, but we have hope. Children with TANGO2 disease are warriors and we hope that a cure will quickly be found.

Plymouth, Michigan, USA

Hanna

Hello TANGO2 families! Our 27-year-old daughter, Hanna, was diagnosed with TANGO2, in February 2022 and we would like to share our experiences in case you are interested in learning about our 27 years of experience with this condition.

We live in Plymouth, Michigan USA, which is 15-minute drive east of Ann Arbor and 30 minutes west of Detroit.

Hanna is a proud participant in our community’s Special Olympics team, she is a graduate of the Plymouth-Canton community school’s vocational program for cognitively impaired young adults, and, she loves musicals, all things weddings and loves to shop for shoes and clothes.

Summary of Hanna’s symptoms that are consistent with TANGO2: episodes of ataxia/muscle weakness (mostly episodes of difficulty walking and talking) starting at age 20 months; speech/language impairment and cognitive impairment (recognized at age 3); amblyopia (age 4); seizures (age 17); hypothyroidism (age 24); and Whole Genome Sequencing confirmed TANGO2 at age 27 (February 2022).

We discovered her TANGO2 diagnosis finally - and unfortunately - when she was hospitalized with her first metabolic crisis in January 2022 at 27 years old. Although her providers initially did not recognize the metabolic crisis during the first 30 hours of inpatient care, when it escalated to ICU life-threatening level, Biochemical Geneticists became involved in her care and immediately suspected TANGO2. They cheek-swabbed my husband (Hanna’s father) and me (Mom) and took a vial of Hanna’s blood and two weeks later, thanks to whole genome sequencing, TANGO2 was confirmed. Hanna’s Dad and I (Mom) are both carriers – what a surprise!

Hanna has a 23-year old brother who does not have TANGO2 but may be a carrier (he will eventually have WGS to find out if he is a carrier).

So, while the symptoms of TANGO2 are not new to us, the diagnosis is enlightening! Hanna has now recovered from her metabolic crisis in January-February and is now using a mitochondrial cocktail and a slew of medicines (anti-seizure meds, beta blocker, blood thinner and hypothyroid meds). She is keeping well-hydrated, well-nourished and low-stressed. She is healthy for now!

We look forward to participating in the TANGO2 community, and learning and sharing experiences about this rare condition.

Brazil

Heloisa

Heloisa loves to dance, listen to music, go to parks and play. She also enjoys eating sweets and loves having company in our home. She is the joy of our home and our life.

She attends a regular school, does therapy, and I notice small daily improvements.

My name is Dayane da Silva Lima de Oliveira, I am Brazilian born in the state of São Paulo. I am 35 years old and I am the mother of little Heloisa who is only 4 years old. On the 13 of May, 2021, my daughter, without any apparent reason, woke up with loss of movement in her legs. She remained that way for about 1 ½ hours with impaired motor skills, excessive salivation, distant gaze, and even difficulty speaking. She could not express the sudden illness, nor could she understand when we asked her to do things such as simple routine commands.

We became desperate and immediately went to the Sabará Hospital, where the grief to understand what was happening began.

Heloisa had 5 hospitalizations in only 10 months, several blood tests, MRI, X-ray, CT scan, tomography, electroencephalogram, electroneuromyography, a molecular panel test to withdraw lumbar fluid, and numerous anesthesias and sedatives. No changes or alterations were found and nothing brought a diagnosis. Her crises become more frequent and intense every day.

She had cardiologic tests such as Holter, echocardiogram and electrocardiogram which were normal, to our delight.

Still, what strikes me as odd was that 98% of the time when she had symptoms the symptoms were in the mornings up to 2 hours after waking up. It rarely occurred in the afternoon and many times they appeared and disappeared without any medication or apparent reason. On some days, the symptoms remained during the whole day and for a few times they only occurred in the afternoon without occurring in the morning.

We saw many medical specialists, such as: otolaryngologist, otologist, allergist and immunologist, physiatrist, endocrinologist, nutritionist specializing in innate metabolic errors due to genetic alteration, homeopath, orthopedist, rheumatologist, 3 neurologists, cardiologist, electrophysiologist, and a neuro-pediatrician specializing in metabolic inborn errors and genetic alterations.

After this long journey trying to find a diagnosis, she had the Whole Exome Sequencing test and we received the diagnosis of TANGO2-related disorder.

With the diagnosis came a great and unexpected surprise, because, we (Heloisa’s parents), we’re not related in any way.

Due to the genetic alteration and the diagnosis, we learned things that we did not know at the time: Heloisa was born 37 weeks premature and until she was 6 months old, she was a child who cried a lot. I always noticed that in the milestones of life, such as walking, crawling, and sitting, she always took longer than other children, but always managed to achieve very close to the due date – with the exception of speech. She has a very significant delay and learning difficulties.

Our great desire and dream is a cure for TANGO2 or medications that control the disease.

Texas

Parker

Parker was diagnosed with TANGO2 at three weeks old. Parker has congenital heart disease and when they were doing genetic testing to determine the cause of his heart defects, they found that he has DiGeorge syndrome and TANGO2 was noted as well.

Parker's general symptoms include episodes of weakness in his legs and temporary loss of mobility. We have noticed that the symptoms typically occur when or after he is sick. When Parker has any type of symptoms, we make sure to inform his doctor so they can keep good notes and track the pattern.

As all of the families do we hope to one day find a cure or to make these episodes more manageable. He is 4 years old (as of Sept. 2022)

Tampa, Florida, USA

Kris

Kris is a very happy boy. He likes to listen to music and dance, he likes monster trucks, cars and go-carts. He always has a smile on his face even when he's not feeling good. He loves going to the beach and spending the day just to see the jet-skis and boats. He has 2 friends that he always says are his brothers. Kris is the only child in the family, but he's full of love and everyone enjoys being with him. He makes your day with just his smile.

When Kris turned 1 and a half years old, he stopped walking and talking and he started getting seizures. He had many, many labs and treatments, but no one ever told me what was wrong with him. I gave birth to my daughter Kimberly and she started having the same issues. She passed away when she was 6. We moved to Florida between 2017 and 2018 when Dr. Amaryllis Sanchez performed a genetic test on Kris and that is how we found out about this rare condition – TANGO2. Kris has turned 18 years and has started having seizures once again.

New York, USA

Aaron

Aaron loves anything with numbers and letters. He also enjoys music. He is very energetic and has a pep in his step. His favorite book is Chicka Chicka Boom Boom. He can spell about 5 words and reads about 20. He can count up to 100.

His first symptoms started around 13 months after a breath holding spell. The next day he had leg weakness and couldn’t walk. It kept happening off and on. We finally saw a neurologist and she thought maybe it was dystonia or hemiplegia. She referred us to a genetics specialist and they did a dystonia panel and microarray and everything came back fine. They did a whole exome sequence and after 6 months, the genetics doctor called on a Sunday and I knew it was something serious. We are glad we found out early. We now have some information, even if it’s not much, to help prevent a metabolic crisis. Aaron’s challenges are his speech – he doesn’t say much and what he does say is not clear. He also is having some low energy recently, but that is all – so we don’t complain because we know things could be worse.

My hope is that Aaron enjoys his life and is aware of how loved he is. He is the best thing that has happened to me and I cherish that everyday.

Ohio

Osiris

Osiris is a ball of joy and giggles. He loves making people smile and exploring. His favorite thing to do is go to the grocery store and pick out snacks. Construction cars are his life! He is 5 years old.

Osiris went into his first metabolic crisis at 5 months and was life-flighted to an out of state hospital. Because of his brother's hospitalizations, the medical team during admission were all comfortable treating and looking for a more definite cause. By the time he was discharged, we had suspected TANGO2-related disorder and had protocols for both boys. After a few months of testing, he was diagnosed with TANGO2 at age 1.

Ohio

Orion

Orion is a sassy boy who loves to draw and line things up around the house. His favorite snacks are popsicles and watermelon. He is 7 years old (as of June 2022).

At 9 months, he went into his first metabolic crisis and was transferred to an out of state hospital for specialized care. He was diagnosed with TANGO2-related disorder at age 3 after his little brother (Osiris) went through the same metabolic crisis.

Argentina

Sol

Sol was born at 36 weeks on October 12, 2018, weighing 2 kilos. She remained in neonatology for 17 days to regain weight and regulate temperature. Then everything seemed normal.

As time went on, although she reached the milestones, she did so with a little delay. They told me not to compare her with other children, that they all have different development, and they were not concerned.

At 19 months, after a walk, she began with episodes of gait disturbance, loss of balance and twisting her trunk. We knew something was not right. It was there when we began with hospitalizations and studies. They performed blood tests, CT scans, MRIs under general anesthesia, and polysomnography. All studies yielded normal results. Sol was medicated anyway while she continued being examined. Finally a doctor instructed us to have the Whole Exome Sequencing test. And at 29 months we received the diagnosis of TANGO2-related disorder.

A confirmatory test was then indicated, which confirmed it. We also had a genetic test and it showed that both parents are carriers.

Sol has a 6-year-old sister. They adore each other. At the moment we have not done a genetic test. We estimate that when you want to have a family, the genetic consultation will be carried out. She has not presented symptoms.

Today Sol is only 3 years old. She helps in the garden, does therapy (phonoaudiology, psychomotricity). She really likes symbolic play.

She presents alteration in gait currently almost daily, instability and loss of balance. She also has developmental and language delays. She has great communicative intent, but her words still take time to arrive. She says just a few words. She has attention deficit disorder, and is very restless. She is not a big eater, and that is why we also consult with a nutritionist and we are very attentive to this issue, with great insistence that she eats.

She takes a mitochondrial cocktail (vitamin B1, B6, B12, riboflavin, carnitine, creatine and coenzyme q10). In turn, she is medicated with T4 due to hypothyroidism.

She likes to play a lot, dance, and she is very affectionate. She gives super cute hugs. At times she is also very annoying and throws a lot of tantrums! Haha.

We want the research to advance quickly and allow us to improve the quality of life of our little ones. They deserve to be better. Being able to enjoy a day full of running, jumping, and climbing, without worrying about repeated visits to doctors, vitamins, therapies, etc.!

I ask you to help us 🙏🙏 and together let's collaborate with the researchers. The pain that we have when seeing our children affected by TANGO2 is inexplicable. Thinking of a rare disease, without a cure or treatment is extremely sad. But, we know that researchers will help change this. Please help us finance the research.🙏🙏

Sao Bernando do Campo, Brasil

Vicente N

Vicente is 2 years old and is happy and loves to eat and play.

He had the normal developmental milestones for his age until 9 to 10 months old when he had a metabolic crisis, a constant fever, spots on the body and loss of movement in the arms, legs and neck. He had a lot of pain, especially in his legs. His CPK reached 74,000 and other significant changes in some enzymes; he had an enlarged liver, spleen; high blood pressure; and dysphagia and needed to be fed through a tube. They didn't know what his diagnosis could be because all the exams were normal. They hydrated him with a lot of serum and gave him pain medicine. After around 3 weeks he started to feel less pain and gradually regained his movements with the support of physiotherapy. He was discharged after approximately 20 days of hospitalization, with changes in blood tests practically normalized.

After that, Vicente had his blood tests normalized, but he started to present intermittent strabismus and 5 months after the metabolic crisis, every time he gets sick he becomes hypotonic, lethargic, very tired, with dysphagia and drooling. It sometimes only lasts for a period of the day and sometimes it lasts for days, with comings and goings of these manifestations.

After almost 1 year without diagnosis, in one of the genetic tests the diagnosis was made that he has TANGO2. When he had the crisis he was already crawling, but after the crisis he has ataxia and even today at the age of 2, he has not started to walk, but he stands practically without support, he climbs on things, and he has already taken two steps in physiotherapy. He has speech delay, speaks only a few words. Vicente has recently had a seizure episode and is experiencing paroxysmal torticollis.

são Paulo, Brasil

Rafaela M

Rafaela is a happy 6 year old and likes to play. She has a faithful companion, a younger brother.

Rafaela had a typical development, although she was a quieter baby, she always had her milestones reached within the time limit. The only development issue that caused us concern was her speech. We decided to enroll her in a little school at the age of two which did not bring much result, but we let it happen in her time and it really did happen. Rafaela had many respiratory infections which got worse after going to school and after three months attending school she had pneumonia with atelectasis. She was hospitalized for five days.

Between 2 and a half and 3 years, she presented with ataxia. Her pediatrician was informed, and advised us to observe because it was a very quick episode. After some time it happened again and a cranial tomography was requested, which showed no changes. Ataxia always occurred in a very spaced way and when it occurred it was in the morning and after lunch and afternoon sleep he woke up as if nothing had happened.

Faced with the insistence of this symptom, an MRI was also requested, which returned normal. We were referred to the neuropediatrician who, after many tests without results, requested the Whole Exome Sequencing test where the TANGO2 deletion was found in July 2020.

After this test, her symptoms got worse and what happened only in the morning and on alternate days, started to happen all day and every day. The peak of ataxia was in the year 2020 and 2021, and always in the cold periods it intensified even more. In January 2022 Rafaela had her last episode of ataxia, but a decline in speech was observed, where today she has nasal speech that varies in intensity.

Sao Paulo, Brasil

Oliver

Oliver was diagnosed early at 4 months old because his brother Vicente already had the disease. He has his normal development for his age and has no Tango 2 symptoms so far.

He is of normal development for his age and has no symptoms of Tango 2 to date, has had no metabolic crisis and seizures.

Rafaela had a typical development, although she was a quieter baby, she always had her milestones reached within the time limit. The only development issue that caused us concern was her speech. We decided to enroll her in a little school at the age of two which did not bring much result, but we let it happen in her time and it really did happen. Rafaela had many respiratory infections which got worse after going to school and after three months attending school she had pneumonia with atelectasis. She was hospitalized for five days.

Between 2 and a half and 3 years, she presented with ataxia. Her pediatrician was informed, and advised us to observe because it was a very quick episode. After some time it happened again and a cranial tomography was requested, which showed no changes. Ataxia always occurred in a very spaced way and when it occurred it was in the morning and after lunch and afternoon sleep he woke up as if nothing had happened.

Faced with the insistence of this symptom, an MRI was also requested, which returned normal. We were referred to the neuropediatrician who, after many tests without results, requested the Whole Exome Sequencing test where the TANGO2 deletion was found in July 2020.

After this test, her symptoms got worse and what happened only in the morning and on alternate days, started to happen all day and every day. The peak of ataxia was in the year 2020 and 2021, and always in the cold periods it intensified even more. In January 2022 Rafaela had her last episode of ataxia, but a decline in speech was observed, where today she has nasal speech that varies in intensity.

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