Mar 25, 2019
Shortly after birth, the participant had her first seizure. She spent 3 weeks in the neonatal intensive care unit (NICU) and was found to have low muscle tone (hypotonia), bleeding inside the skull (intracranial hemorrhage), and cataracts. She also had an enlarged liver and spleen (hepatosplenomegaly), red spots on her skin (petechiae), and required a platelet infusion within a week after birth.
Her seizures continued despite many therapies, including medications, vagus nerve stimulation, and a ketogenic diet. At 2 years old, she had a G tube placed and has been taking all of her food, water, and medications through the G tube since.
Currently the participant is 18 years old and is nonverbal. She is unable to sit up unsupported or grasp objects. She began to babble at 6 months but has never had any words. She has had two periods of major regression after intense seizure activity when she was around 2 and 8 years old.
Clinicians and researchers are investigating the following genetic changes to see if they are 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.