Pyroluria

Hi,

my son has a disability and developed seizures when he was 14.  He had one seizure, then another 9 months later, then 3 months apart, then one month, then every 2 weeks (like clockwork).  I tried pointing out to every neurologist that have seizures every two weeks like clockwork was really unusual.  I have worked with several hundred people with epilepsy and have never heard of it before.  We tried numerous epilepsy medications and he always had breakthrough seizures except on one medication (Vimpat) which was effective for several months.

At age 18, he started reacting to the medications he was on and became psychotic where he was assaultive and self injurious on a daily basis and even asked to be killed on several occasions.

The neurologist we had said "People with disabilities develop psychiatric issues" and did no investigations at all.  It was obvious that our son was reacting to the epilepsy medication because when it was reduced, there was an immediate improvement in his condition. Over the period of several months he became sensitive and reacted to all of the epilepsy medications that we tried - after 3 -4 days on the medication he would become psychotic.  On medications like epilim which has a mood moderating effect, it would take around 2 weeks but he was in a lot worse state at that time. The neurologist believed his disability was the issue and could not think beyond the disability.  I have two science degrees, a first class honours degree in chemistry and a better degree in computer science. I have worked in the disability field for about 15 years.  I have excellent communication skills but I would have been more successful talking to a brick wall than I was talking to the neurologist (and I mean this literally). I would have achieved more talking to a brick wall.

We tried a new neurologist but unfortunately, the first neurologist was contacted and we received scepticism and hostility from the new neurologist.  We tried another neurologist and got the same response.  All of the neurologists wanted to place my son on anti-epileptic medication and sedate him to control the behaviours but none of them made the slightest effort to investigate whether my son had a medical condition which was causing the behaviour and reaction to the epilepsy medication.  They all assumed that we were fabricating a story and that what we were saying could not possibly be true.  I tried to go to a professor of neurology and was treated with disrespect in the extreme.  I have never been sneered at before. The lack of logical and intelligent thought was breathtaking.

We had to investigate his medical condition (that the neurologists believed was fantasy) by ourselves.  We looked at the brain, the pituitary system, the liver and numerous other possible causes.  For us to investigate was very inefficient but we were the difference between proper medical care and medical abuse.  Luckily, our family GP was a very good person and let us do the various test we wanted to do.

Finally, we went to a GP who specialized in 'difficult cases' and immediately he identified the problem - pyroluria - an excess of kyrptopyrroles which deplete B6 and zinc and can lead to all of the behaviours my son exhibited including sensitivity to medication. My son had 17 out of the 20 symptoms.  With B6 and Zinc supplementation, my son's has been seizure free now for 3 months and all of the behaviours have disappeared. People with B6 seizures do not have their seizures controlled by AEDs.  B6 is needed to convert the neurotransmitter glutamate to GABA.  The glutamate is excitatory and the GABA is calming and I'm assuming that the increasing glutamate and the lack of GABA will eventually short circuit out the brain and cause a seizure.  The seizures were regular because the production of the neurotransmitters occurred in a regulated way by the body and their attachments to the various receptors.  People with pyroluria can be sensitive to medications.  I found out if you keep someone with pyroluria on medications that they are sensitive to - they become supersensitive and its really important to remove what they are sensitive to.

There was a lack on investigation. Every time we went to a neurologist, we said that what we were saying could be verified - 'see for yourself' - but none of the neurologists could see past the disability.  Another problem we had was that because seizures were involved, we were always referred back to neurologists for their treatment.  There are over a hundred causes of seizures.  Without exception, the treatment we were given by the neurologists were anti epileptic drugs and when we told them that my son could not take them without becoming psychotic, their response was that they couldn't do anything else.  There was no investigation and no verification of facts and the disability was the wall where the thinking stopped.  God help people who have seizures caused by other issues like pyroluria - metabolic disorders.