The story of Nora
Hello everyone! Happy New Year and Merry Christmas!
My name is Nora. I am 3 years old. I am an Armenian from Russia from the city of Labytnangi. After lengthy examinations and tests, I was diagnosed with type 1 infantile parkinsonism-dystonia in SLC6A3. I have no support to sit, I practically do not chew (I eat only chopped food, or liquid food through a bottle), I don’t take objects, I don’t talk. Every day I have severe attacks of hyperkinesis and dystonia. I fall asleep very hard and always twitch in my sleep. Outwardly, I look like an ordinary child who recognizes mom and dad. We toured all Russian clinics, but unfortunately, nothing could help me.
In March 2021, we decided to visit the German Beta Clinic in Bonn and were seen by Professor Christian Elger. He diagnosed us with a motor disorder of hyperkinetic and kinetic syndrome with parkinsonoid elements with a defect in the SLC6A3 gene (homozygous) – early-onset dopamine transporter deficiency syndrome (DTDS).
I would like to find people with a similar diagnosis here. I also want to understand how else this organization can help me.