Yolaine, Ella’s Mom

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