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What's your link to PVNH?

vangroovymom Message
29 Jan 2010, 05:45 AM

My daughter Ella was born healthy in Aug '08 and by 2 months had developped respiratory distress. Xrays showed lung problems and CT scan confirmed she had end-stage emphysema on both lungs. When hospitalized (3 times for a total of almost 6 months), countless tests were done to diagnose her. All came back normal. It was suggested her illness migth be due to Filamin A mutation. Ella required oxygen therapy, intubation, then BIPAP, then intubation again and finally a tracheostomy. Ella fought to live as much as she could but the more she grew, the worse her lungs became. She went to sleep peacefully and received her wings on March 27, 2009 at the age of 7 months and 20 days. The autopsy confirmed that Ella had X-Linked PVNH. I have since devoted my free time to finding families affected by PVNH. I am in contact with 9 as we speak from all around the wold and there are another 9 overseas that I am about to reach. Let me know what your story is. We can then pool our stories, symptoms and details to offer researcher a case and hopefully find a cure. Thank you!