What are some of the diagnosis’s that your children/patients have had prior to being diagnosed with Tango2? There are at least 8000 people in the world that have Tango2 based in a prevalence study but we only know of about 200. So there must be people out there with the incorrect diagnosis.
At one point Ryan was diagnosed with alternating hemeplegia of childhood. Some symptoms were labeled as ataxia, dystonia, and paroxysmal torticollis. For years the only abnormal test result was for hypothyroidism.
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Yuito had no major abnormalities until he developed metabolic crisis, and no clear diagnosis had been made.
However, there were a few things that concerned me.
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Cognitive and motor delays
I felt that he was developing slower than his friends, so I consulted our local **hild development support center. -
Stagger when he had a cold
At the ages of 1 year and 7 months and 1 year and 9 months, he had a high fever and became unsteady and unable to walk, even though he had been able to walk until then. Especially at the age of 1 year and 9 months, there were times when he could not support his head. After the fever subsided, he was able to walk again within a few days. This was very strange, and I went to a nearby hospital to consult, thinking that he might have some kind of illness. However, since he was able to walk as before, he was not examined in particular.
I have attached a video of that time.
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Thank you for sharing @saori1989JAPAN. This is very helpful for other families to see this too. I am sorry he struggles but I am so glad he got a diagnosis and is now on B-vitamins. He is a very cute boy!
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When Hanna was four years old - in 1998 - (way before Human Genome Project) the pediatric neurologists really had no good explanations for her spells but they suggested she may have “Episodic Ataxia” (EA) as a diagnosis and prescribed Diamox. However, we felt the episodic ataxia was a symptom (with small letters) and this diagnosis did not seem right and the Diamox did not stop the spells.
@anngeff Thank you☺️I also think my son is very cute!
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