Oct 29, 2021
The participant was born full-term with multiple congenital anomalies. These included dysmorphic facial features, musculoskeletal anomalies, vision abnormalities (strabismus), and a heart defect (Tetralogy of Fallot). Her heart defect was repaired shortly after birth. As a newborn, she was diagnosed with bilateral sensorineural hearing loss. She also had difficulty eating due to weakened tissue in the walls of the larynx (laryngomalacia) and experienced reflux (GERD). She was given thickened feeds to help with this.
Around age 4, the participant began having absent spells. She then had a normal EEG which ruled out seizures. She has also experienced insomnia, which improved in response to creating a dark environment.
The participant has a history of global developmental delays. She has received physical, occupational, and speech therapies for support. She needs the support of a walker for movement, and can dress herself with some support. She has lost all of her hearing in the right ear and wears a hearing aid in her left ear. Her speech is improving, and she is able to express her wants and needs and have short conversations.
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.