Ella: Born on August 7, 2008 (now World PVNH Disoder Awareness Day). Died on March 27, 2009 at 7 months and 20 days.
From: Vancouver, BC, Canada
– Initially, gasps and rapid breathing within of few days of being born. As time progressed, her breathing patterns was odd.
– Although she nursed immediately at birth, she would have difficulty latching later on.
– Even though she fed very well, and was topped up after each feeding and then syringe fed, Ella would not gain much weight. She had been slow to grow in utero (3rd percentile).
– Failure to thrive.
– Ella lost her voice gradually.
– The day after her 2nd month immunization, her breathing worsened (immunization can bring out underlying symptoms is what I was later informed of).
-Ella’s lungs showed end-stage emphysema by the time she was 3 months old.
– Ella’s left lung was wrapped over her heart.
– She was very limber, likley with hypermobile joints.
– Ella had a cardiac problem: mitral-valve prolapse and a shunt.
– She had blue sclera and her skin was soft, velvety and translucent.
– Before desaturating, she would start to sweat. This also appeared to be related to the body positions she may have been in although I was never able to identify a clear pattern.
– Ella appeared to be sensitive to her diet, although a clear pattern here again was never identified.
– Even when on oxygen therapy, Ella’s saturation would dip a bit and climb up, and dip again this time lower, and climb up. And dip again, and climb. And when this pattern repeated itself several times, she would drop. And she could drop like a rock. Drops were seen in the low (30s) on quite a few occasions (normal saturations or sats as they are referred to are in the mid to high 90s at room air). Even blow by oxygen or being bagged did not seem to help. In those cases, either my arms and bum pats or strong muscle relaxants (sometimes administered as emergency procedure) would help.
– Ella showed a pattern for low platelets.
– Ella did not appear to have any delays, although being confined to hospital bed resulted in a low tone and the inability to try to learn to walk.
– Ella did not speak. She had a tracheotomy a month before she died. She had started to learn sign language and I she mouthed maman a week before she died.
– Negative results: Cystic Fibrosys; Cutis Laxa, CMV (borderline positive but confirmed not be the cause of her disease by the pathologist)
– Positive: DNA FLNA deletion; PVNH by MRI – both also confirmed in Ella’s mom and her maternal grand-mother who also share the same diagnoses and had almpst identical MRIs.
Diagnosess: X-Linked PVNH (Perieventricular Nodular Heteropia caused by FLNA deficiency), which also caused interstial lung disease and pulmonary hypertension.