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are different names for the disorder characterized by intractable seizures that can't be controlled by anticonvulsants but that respond to large doses of pyridoxine (vitamin B6).

It's a genetic disorder inherited in an autosomal-recessive manner. The defective gene (ALDH7A1) results in inactive enzyme (antiquitin) which in turn causes the lack of pyridoxal phosphate in the body. Pyridoxal phosphate is also essential for the metabolism of neurotransmitters and therefore normal brain function. Regural administration by pyridoxine (that's metabolised to pyridoxal phosphate) compensates the deficit.

The prevalence of this disorder has not yet been precisely determined. The authors of the few existing studies on this topic estimate the birth incidence from 1:20000 to 1:700000 and it is likely that many cases are never diagnosed. It is not only due to lack of awareness of physicians but its role plays also the fact that pyridoxine is a standard part of supportive therapy of many neurological problems (such as epilepsy or autism). Even relatively small doses of supplied pyridoxine usually stop seizures or significantly reduce their frequency what can be easily interpreted as a success of anticonvulsant therapy. Already complicated development is then even more slowed down by the unnecessary AED treatment and in case of future reduction or discontinuation of pyridoxine administration (either intentionally or accidentally) the reoccurence of seizures (often very fast) is misinterpreted as decompensation in till now successful antiepileptic therapy.

Motivation

In first two years of live our son had several episodes of status epilepticus and hundreds of seizures. During this period he spent about 6 months in 5 hospitals - monstly in ICU. He got 11 kinds of AEDs in many combinations and went through dozens of tests. He had and has many issues in development and behavior - speech development delay, muscular hypotonia, autistic spectrum disorders etc. All of that stigmatized his life and family.

The goal of this site is not to arouse pity or to blame anyone. It's all about a simple message that nothing of that was necessary to happen if any of those about 30 neurologists, neonatologists and pediatricians we met had known that such a disorder exists and an easy trial administration with pyridoxine is worth a try in this case. The suffering took two years and we don't know if we ever recover from it. Neurological wards of hospitals are full of children with epilepsy and autism and we accepted it's untreatable and focus on suppression of symptoms using powerful AEDs in the first place. Of course, there is no other choice most of the time - but sometimes there is - we cured our son from epilepsy and autism. Everyone isn't so lucky to find the clue but everyone can keep trying because there is always the cause - we just don't know it yet.

The most frustrating is the fact that the child requiring intensive care, suffering with repeated status epilepticus and being mentally and physically retarded is such a simple, save and cheap step away from having a normal or only slightly reduced quality of life.

Nearly five years after my son's birth and more than two years after I had found the correct diagnosis it is still difficult but our live has changed for the better so that I finally found the strength to create a site that I was so vainly looking for.

More information

If you need more technical information, see [1] or [2].

There is also a discussion group that (since 1998) brings together mostly parents of children with this disease and provides unique collection of their experiences and related information.

If you need any help, have any questions, want to somehow contribute to the content of these pages or support it, want to help with translation into any language, mail me.