Kayson was 2 years old and the most loving 2 year old you could ever meet. He had a smile that could melt your heart and could just go on and on in his little toddler words. If we were out ANYWHERE he would say hi to you so loud so you couldn't miss him and always reach to give you a fist bump. We did not discover until it was too late and our sweet boy gained his wings that he had TANGO2 deficiency disorder. Through it all and all the hospital trips he stayed the sweet happy boy he always was. I know our baby boy is up there loving all the doggy's and ponies and watching over us.

In May of 2023 Kayson did not wake up from his nap and was transferred to U of M where they were able to bring him back to his normal self. He was seen in many hospitals and by many doctors for the same symptoms such as; was not able to stand or barely crawl, very lethargic, and his words for very mumbled, he was also starring into space having absent seizures. Every hospital trip was the same and nothing was done until he started seeing specialties at U of M. They did everything they could to help figure out was going on, but unfortunately Kayson passed away when we were waiting on results from his genetic blood test.

Samantha was our beautiful angel who we loved so much and we are so grateful to have had Samantha for the time we had her.

Samantha, our second child, was born April 1987 and was a healthy baby. The first signs of developmental delay were that she didn’t walk but walked everywhere on her knees. We first sought medical advice when she was 16 months of age as we were concerned about her not walking. We were told “don’t worry, lots of children don’t walk until later”.

We decided to take Samantha to a specialist paediatrician who diagnosed her with Rett Syndrome even though it wasn’t a good symptom fit. We used to observe her when she suddenly would fall over and then she would get up again. We told the Doctors about these strange episodes that only we had seen but nobody understood it – it had no medical meaning.

By the time Sam was 2½ we were taking her to a special education centre, and she was classed as a mild to moderate disability. She was so beautiful. Two days before Samantha’s 3rd birthday we took her in front of a panel of 5 top specialists in Brisbane to seek a diagnosis of cerebral palsy so that she would receive disability support into the future. That day Samantha was very flat and lethargic – she was so beautiful and sweet and there was nothing obviously wrong other than the lethargy. After a series of thorough examinations, they determined that it was some sort of highly unusual cerebral palsy and maybe she had a virus to explain the lethargy.

For the next few days Samantha showed no symptoms but just lay down but was so happy and beautiful. Three days after her 3rd birthday we were concerned and Dave made an appointment with the local doctor. The GP could not find anything wrong and tried to send Dave away. Dave insisted on a blood test and two hours later the phone rang. It was the GP with the advice the white blood cell count was through the roof and that we should get her to emergency immediately.

When we arrived at emergency at the local regional hospital Samantha perked up and they said there doesn’t seem to be anything wrong and to take a seat and wait. The doctors were trying to send us home because they couldn’t find anything wrong with her. Very shortly Samantha collapsed and passed away in emergency. There was an extensive autopsy on our beautiful Sam and these revealed signs of heart failure and deterioration of some nervous system white matter.
Our time with Samantha was short but she was truly a beautiful angel in life, and we have always been grateful for the time we had with her. It has been hard though as we never had any answers why, and for us as her parents and for her siblings and especially now with Rebecca, our youngest daughter, having probably “the same thing” there had to be an answer. Because we had lost Sam, we were able to save Rebecca. Now that both our daughters have been diagnosed with the TANGO2 deficiency disorder we say now “it took an angel to make a warrior”.

Rebecca has been more profoundly affected than Samantha. She has lived and lived a good life because we lost Samantha and had learnt a few things. We as a family knew how critical and life threatening this “thing” was and how it was not given any credibility in the absence of a diagnosis. We were fortunate to find a team of exceptional doctors who established the Queensland Lifespan Metabolic Service and without their exceptional skills Rebecca would not have lived the healthy and happy life that she has. Our other two daughters have now had their own children, and during their pregnancies and births it was difficult for all of us hoping that whatever this was that had affected our family was not going to happen again.

With the diagnosis of TANGO2 disease in April 2024 and Rebecca has turned 30 years of age this year (and our beautiful Samantha would have been 37 years old) it all just makes so much sense. It certainly didn’t feel like our lives and our families journey made any sense before the TANGO2 disease diagnosis it was always this underlying question that was part of our family.
We are so grateful to the families and medical specialists who have paved a way forward with the establishment of the TANGO2 Research Foundation. There is so much hope now with the work being done by the TANGO2 Research Foundation and we are so grateful as a family to finally understand how our family has been affected. We hope our stories will help other families. When we received the diagnosis of TANGO2 disease for our family, we read the stories of the angels and the warriors, and we were so appreciative. It is a tough path, and it helped our family so much to read of the experiences of others who had such similar experiences. If our family can contribute and assist other families in their journey that is a worthy thing to do. It is a difficult journey but one that is very beautiful and rewarding. Rebecca and Samantha have both contributed in their lives and been beautiful people who we love so much.