Monday, November 16, 2009

Therapy or not? That is the question!

In fact it was never a question to me. We started a stimulation program a long time before we got the right diagnosis. And when we finally got the diagnosis, the 'specialists' promised us such difficulties with Rett syndrome itself that it couldn't be compared with any intensive therapy we choose. My thoughts were: if life with Dejana is going to be unusual anyway, let's do the therapy then. We had nothing to lose but maybe something to win. And we started.

I believed in the power of the stimulation programs and after all I am happy I did.
We started with HOPE, enthusiasm and a lot of extraordinary people around us. But the world of specialists was not there. Why? Because the literature on Rett syndrome at that time (10 years ago) was very pessimistic. They even thought that it is a degenerative disease. This was based purely on statistics and not on molecular research. But … the problem is that these statistics were only able to tell us about the cases in the past where intensive therapy hadn't been done. And of course, all these girls/women tended to deteriorate in their health and motor skills that much that they were only able to vegetate and receive a handful of medicine each day. Watching them specialists came to the conclusion that Rett syndrome had to be a degenerative proces.

I didn't want ... or I just couldn't accept this. I had no option but to fight. And we started therapy.
Hopefully this view has changed now based on research. Since then Rett syndrome hasn't been described any more as a degenerative process.

In all these years I've had to face many more official prejudices: about life long medication, unavoidability of scoliosis, absence of memory and learning, inevitability of foot deformity, necessity of total anaesthesia at the dentist, necessity of giving up .... and so on.

And to ignore them one by one took a lot of our energy and time. Far more than any intensive therapeutic program could do. So we decided to avoid medical institutions as much as possible. They couldn't help Dejana to get better. Furthermore their deep pessimistic view on Rett syndrome was not the road that I wanted to walk on. In that way we also saved Dejana from the drawer full of medication that usually goes together with Rett syndrome.
Now after all I can say that we are happy with this decision.
But then I had doubts and questions that nobody could answer. No, it is not easy to choose your own way. The only official support that we had was BIBIC and the Brain Train team.

In the meantime I saw a lot of girls with Rett syndrome and I see them againevery year. At the start a few of them were even better functioning than Dejana. They walked better, used their hands, gave good response and could say some words. Now they are very sick despite all the medication and
operations they have been through. I wouldn't be surprised if genetic research one day will show that most of the symptoms in Rett syndrome are the result of today's medical interventions and the lack of a stimulating environment. And that only a few of the symptoms are in direct relation with
gene mutation itself.

Monday, November 9, 2009

How does it feel to have a child with Rett syndrome?

This is a good question, but there are no easy answers.

Not because Rett syndrome is so difficult but because our personal situation, family, neighbours, doctors, siblings, therapists, or education are very different and they all determine how we may feel about it. Living with Rett syndrome is not the same in every family. Our own prejudices are colouring it and most of the time this colour is dark.

It is dark because 'specialists', as soon as they can, will make sure that we adopt their deep 'medical' pessimism. From the very beginning. They do not give us any chance to fight Rett syndrome. No chance to believe in any other road than the predicted one. A road which is based on their statistics of other children who also didn't get a chance to fight Rett syndrome.

And so the circle of: NO hope- NO action- NO result, will be closed again. For us and for our girls.

"Don't try anything, don't lose your time, don't hope, don't believe. Go > home and surrender." That is the usual doctor's advice. Or "make another child instead".
Why? Is she not counting? Is she not A child? Well ....

Our society is not yet ready to fully respect individuals with Rett syndrome or any other developmental issue.
Our society is not adult enough to give a chance to these children, to believe in them and their possibilities, to give them time and to invest in them.
Our society is still discriminating people by their diagnosis even if it is not said out loud.

When people 'silently' discriminate a child with Rett syndrome than:
– they rather see her disabilities than her possibilities;
- they look with pity at their parents;
– they believe that nothing CAN be done to improve the child's development;
– they believe that the child is NOT able to learn anything at all;
– they overprotect her from her environment and normal life;
– they don't speak directly to a child that does not communicate with words;
– they like to stare at you: in the street, on the beach, in the shop, bus, park all over, even if they know very well that their behaviour is antisocial;
– they believe that they are the lucky ones not to have such a child and they think that we don't know their thoughts but we see them easy, through their body language, eyes and voice.
Always!!! With no exception.

Discrimination is still present among ordinary people and among the ordinary 'specialists'. Facing this daily was more difficult for me than Rett syndrome on its own. If I am totally honest I have to say: The most difficult thing in Rett syndrome for me was society NOT the symptoms.

With Rett syndrome itself I declared war from the beginning. And I found him after all, a very interesting enemy that shows many faces at the same time and likes to surprise you just when you think he will surrender. Probably all serious diseases will show the same evil character but this doesn't mean that we have to stop fighting them. On the contrary.

Quote: When you do nothing, you feel overwhelmed and powerless. But when you get involved, you feel the sense of hope and accomplishment that comes from knowing you are working to make things better.--Pauline R. Kezer

Yes, this seemed logical to me, but after some time I realised that it was not a usual road that most people choose to walk on. We become the pioneers in such a decision and in such an experience. It is not easy to be a pioneer, but still I am happy that we have the power and strength to walk on that narrow path up the hill, where Rett syndrome has not such a dark heavy color.
There is much work here, much planning and structured days, unusual life .... but his is the fate of Rett syndrome anyway: with or without therapy. Still it helped us and HER to miss the most dramatic side of this neuronal disorder. And that makes life easier.

Sunday, November 1, 2009

Treatment for epilepsy is a possible culprit ...

... for development of schizophrenia

Researchers say antiepilectic drug treatments administered when the brain is developing appear to trigger schizophrenia-like behavior in animal models. In humans, having a history of seizures in infancy is a significant risk factor for development of schizophrenia later in life, but it is not known whether the elevated risk is due to seizures themselves, or from side effects antiepileptic drug (AED) treatment.

In research presented at the 39th annual meeting of the Society for Neuroscience, Georgetown University Medical Center researchers show that exposure to AEDs during critical periods of brain development in animal models increases schizophrenia-like behaviors.

"We know that early-life exposure to AEDs such as Phenobarbital triggers cell death in many brain regions associated with the onset of schizophrenia," explains Guillermo Palchik, a doctoral student in the department of pediatrics at GUMC. "This study not only suggests a relationship between the drugs and schizophrenia, but it raises important questions regarding the side effects of a widely-used class of drugs. Phenobarbital and other AEDs are not only used as a treatment for seizures but more generally in the treatment of migraines, neuropathic pain and mood disorders, among other ailments, and can be considered drugs of abuse."

Source: Georgetown University Medical Center