Sep 08, 2016
The patient was born early at 35 weeks. During the first few months of her life, she had multiple episodes of “turning blue” (cyanotic episodes) and was diagnosed with many upper respiratory and ear infections. She also had bronchitis and pneumonia several times. Around age 6, she started to complain of difficulty breathing.
Over time, the patient has continued to suffer from frequent infections, chronic lung disease, and asthma. At age 12, a buildup of fluid between the tissues that line the lungs and chest (pleural effusion) was noticed on an X-ray. The patient also has acid reflux disease (gastroesophageal reflux).
Albuterol, Flovent, Hypertonic Saline Nebulized Solution, Chest Vest Physiotherapy- asthma and airway clearance
Tonsillectomy, adenoidectomy- upper respiratory infections
Clinicians and researchers are investigating the following genetic changes to see if they are causing the patient’s symptoms:
If this participant sounds like you or someone you know, please contact us!
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