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