Dec 11, 2019
This participant was born full-term after an uncomplicated pregnancy. He experienced some initial problems with grunting and wheezing (stridor), but he was able to go home on his second day of life. He has had continued respiratory concerns, including weak cartilage in the walls of the larynx (laryngomalacia), aspiration, and impaired airway clearance.
As an infant, the participant had staring episodes and different movements (arm extension, back arching) that resolved. At 4 months old, he was found to have uncontrolled eye movements (nystagmus). At 8 months old, the participant was noted to have mild global developmental delay.
The participant is currently 8 years old. He has uncoordinated walking (gait ataxia). He is reading at a 2nd grade level and working on addition and subtraction. His social skills have improved with intensive ABA therapy. He has significant anxiety.
In 2021, clinicians and researchers identified the following genetic change to be 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.