Oct 16, 2023
At the age of 4, the participant started having breathing problems. Shortly after, she had a bluish color to the skin due to low blood oxygen levels (cyanosis). These symptoms were determined to be the result of interstitial lung disease, which led to mild high blood pressure in the lungs (pulmonary arterial hypertension) and subsequently respiratory failure. As a result, she underwent a lung transplant at the age of 6. She is doing well after transplant.
At the age of 3, parents noticed a delay in the participant’s speech. At the age of 5, she could not speak in sentences and read/write for her age level. After the lung transplant she has shown progress in her speech. Imaging of blood vessels in the head (CT angiography) was normal.
Clinicians and researchers are investigating the following genetic changes to see if they are causing the participant’s symptoms (leading candidate gene: TMEM63B):
If this participant sounds like you or someone you know, please contact us!
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