Jul 17, 2019
The participant was delivered early at 31 weeks by emergency cesarean section (C-section) due to maternal preeclampsia. He spent the next eight weeks in the hospital due to feeding and breathing problems. At that time, he was diagnosed with profound bilateral hearing loss and had ear tubes (tympanostomy and pressure equalization tubes) placed. He also had a right cochlear implant placed at 13 months of age and a left cochlear implant placed at 24 months.
Since birth, the participant has had low muscle tone (hypotonia) and was evaluated by developmental specialists at 6 months old. He was found to have motor and developmental delay with poor head control and absent reflexes in his legs.
The participant was found at 10 months to have thick oral secretions and persistent coughing, which caused breathing obstruction at 16 months. He also has gastrointestinal problems, including acid (gastroesophageal) reflux and constipation. A gastrotomy tube (G-tube) was placed at 18 months to help with weight gain.
Clinicians and researchers have identified the following genetic change to be causing the participant’s symptoms (Macnamara et al. 2019). The site is looking for other individuals with heterozygous, compound heterozygous or homozygous variants in this gene.
If this participant sounds like you or someone you know, please contact us!
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