Gender and year of birth
Female, 2010
Description
Developmental delay, epilepsy, respiratory tract problems
Symptoms / Signs
- Not able to walk, not able to speak, abnormality of the corpus callosum, respiratory tract problems
Current Treatments
- Special education, speech therapy, physical therapy, music therapy, medical day care, regular consultations with pediatrician
Prior Treatments
- Speech therapy. Tried many different medications (e.g. Ritalin was tried by the effect was opposite of that desired), but finding the right medication is difficult without a diagnosis. Parents went to a training program to learn about raising a child with autism.
Considered treatments
- Not applicable
Previously Considered Diagnoses
- None
Genetic Variants of Interest
- CDKL5, MECP2, FOXG1, CHD7, TCF4, MEF2C, NIPBL: negative, SNP array: negative
Whole exome sequencing (trio): negative. Whole genome sequencing ongoing
Siblings, age & gender
Brother, 14 years
Contact
If this participant sounds like you or someone you know, please contact Wilhelm Foundation at info@wilhelmfoundation.org
Bio
My name is M. I am a very happy and joyful girl, currently 9 years old. My brother always makes me laugh. I bring joy and happiness to the family.
