Yolaine & Ella, Sept. 2008
Yolaine: 43 years in 2011
Location: Vancouver, BC, Canada
Symptoms:
– Heart murmur and bicuspid valve prolems
– High palate, tight teeth
– Low arches
– Scoliosis
– Tranlucent skin
– ITP (low platelets) causing excessive bleeding and easy bruising requiring bllod work check every 3 months
– Apical bullaes on lungs causing shortness of breath and asthma-like symptoms
Tests:
Negative: Lactose intolerance and Ceoliac disease
Positive: PVNH confirmed by MRI and deletion of the entire FLNA gene as well as deletion of the Emerry-Dreifuss gene
Diagnosis: PVNH4
