X-linked PVNH in Ella’s case was linked to the Filamin A gene (FLNA) which was entirely missing. We later discovered this to be a familial mutation passed on from my mom to me and from me to Ella.
What complicated matters with regards to Ella’s health was that the PVNH was also linked to another disease: Ehlers Danlos syndrome – hence the PVNH4 diagnosis which translates to Periventricular Nodular Heterotopia, Ehlers Danlos variant.
Ehlers Danlos itself is a collagen disorder which has at least 10 known variations. Similar to PVNH, it creates heart problems and can cause aneurysms. It is generally linked with hyper extensive skin and hyperflexible joints.
In Europe, according to Orpha.net, PVNH4 is estimated to occurs in <1 in 1,000,000 (less than 1 in a million).
Together, both disorders cause seizures, cardiac anomalies such as aneurysms, emphysema among many other medical problems.
To find about more about PVNH4: Walsh Laboratory’s Published Litterature on PVNH4