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.