Aug 02, 2021
The participant was delivered via C-section after an uncomplicated twin pregnancy and was healthy at birth. She was slow to begin breast-feeding compared to her twin brother. She was notably irritable and “floppy” due to low muscle tone (hypotonia) and had difficulty gaining weight as a newborn.
At 5 months old, the participant was hospitalized after she began having seizures that would last anywhere from 30 seconds to 1 minute. The seizures have since been well-controlled with Keppra (levetiracetam), though she has experienced some behavioral side effects from this medication.
The participant has a history of developmental delay and is nonverbal. She can understand around 200 words and uses some signs and sounds to communicate. She has an unsteady gait (gait ataxia) and has had significantly delayed motor development overall. She is generally very social and has a happy disposition.
Clinicians and researchers are investigating the following genetic change to see if it is causing the participant’s symptoms:
If this participant sounds like you or someone you know, please contact us!
The information provided here is based on individual patient experiences. This information is not meant to substitute for advice of a qualified health care provider. Please do not use this information to diagnose or develop a treatment plan for a health problem or disease without consulting a qualified health care provider.
Any mention of products or services is not meant as a recommendation of the products or services. Please discuss any options with a qualified health care provider.
Developments in medical research may impact the information that appears here. No assurance can be given that the information in this site will include the most recent findings or developments.
The use of any information provided on this site is solely at your own risk.