Yolaine, Ella’s Mom

Yolaine & Ella, Sept. 2008

Yolaine: Diagnosed at 41

Location: Vancouver, BC, Canada


– 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


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.