Yolaine & Ella, Sept. 2008
Yolaine: Diagnosed at 41
Location: Vancouver, BC, Canada
Symptoms:
– Heart murmur and bicuspid valve prolems; prone to syncopes as a youth
- Low oxygen stauration; requiring oxygen for activities
– High palate, tight teeth
– Low arches
– Scoliosis
– Tranlucent skin
– ITP (low platelets) causing excessive bleeding and easy bruising requiring blood work check every 3 months
– Apical bullaes on lungs causing shortness of breath and asthma-like symptoms, later confirmed to be Insterstitial Lung Disease
Tests:
Negative: Lactose intolerance, Ceoliac disease, Multiple Sclerosis
Positive: PVNH confirmed by MRI, Ehlers-Danlos Syndrome, and deletion of the entire FLNA gene as well as deletion of a portion of the Emery-Dreifuss gene confirmed by genetic testing.
Diagnosis: X-Linked PVNH associated with FLNA gene ; FLNA-related Lung Disease / Instertitial Lung Disease.
