Fifteen-year-old Michaela Hlaváčková suffers from a rare genetic disease called AADC. In May, he will be treated in an American clinic, completely free of charge – he will participate in a clinical study of the treatment of older children. She told the iRozhlas.cz server She is family.
More than 150 people worldwide are affected by the rare syndrome. The first case in the Czech Republic was two-year-old Martinek, who underwent treatment in France. The public collected 150 million crowns through fundraising for his treatment.
“There are few older children with AADC like Míša, because those children don’t live to this age,” mother Lenka explained to Radiožurnál why she was able to negotiate expensive gene therapy for her fifteen-year-old daughter in San Francisco for free.
AADC affects the metabolism of neurotransmitters in the brain. This is due to insufficient activity of the AADC enzyme, which is key to converting amino acids into neurotransmitters responsible for communication between nerve cells.
People with this syndrome often have neurological problems – muscle weakness, sleep disorders or movement disorders. Michaela can’t sit without support, can’t eat or drink alone, can’t walk.
“Misha is going to have a big change. She has to stand, she has to eat. No one knows if she’ll catch on to fine motor skills, but she needs to be given gross motor skills,” Misha’s mother said, looking forward to the results.
The Hlaváčeks must report to the clinic for five years about both treatment progress and adverse effects. They may have to return to the hospital in the US several times over the coming years.
