X-linked PVNH in Ella’s case was caused by 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 combined to another disease: Ehlers-Danlos syndrome. X-Linked PVNH used to be refered to a Periventricular Nodular Heterotopia, Ehlers-Danlos variant.
Ehlers Danlos itself is a collagen disorder which has at least several known variations. Similar to PVNH, it creates multisystem problems. For more information abut Ehlers-Danlos Sydromes, visit the Ehlers-Danlos Society.
In Europe, according to Orpha.net, X-Linked PVNH 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 X-Linked PVNH, visit GARD – Genetic and Rare Disease Information Center on X-Linked PVNH