Fresh News

Hello everybody !

Here are some fresh news of the day!

From myself, motivated and informed parents and a reliable source: the neuro-pediatrician who has been following my son for three and a half months.

What's new on this day? What is the theme?

It so happens that for two and a half weeks, I have begun to have a lot of information in my possession, notably thanks to the Facebook groups on KCNT1 or Epilepsy, the parents with whom I exchange, who are of a in addition to the documents that can be found on the internet and the information delivered by the neuropediatrician when you know the right questions. So what's new Doctor you say?

I applied last week for a quick appointment with the neuropediatrician, Professor Milh, whom I saw on this day with my husband and my son, Eliot.

Three topics were discussed:

 - The gastrotomy of which I have already devoted an article.

 - The Neurofeedback

 - Cannabidiol

 If I did not come back for the moment on gastrostomy and I would certainly devote a separate article to Neurofeedback, I will talk about the "CBD", said "Cannabidiol".

Before any thing, some information to know (if you already know, so much better, otherwise it is just for information purposes). KCNT1 is a gene. If there is a failure on this gene, it can have pathogenic * (* causing disease) or non-pathogenic effects. So it would seem that there are people who have a malfunction on KCNT1 who have neither epilepsy nor mental retardation.

You, dear reader, have perhaps this weakness, and you do not even know? But as long as it does not affect you, physically or mentally, then, it's not a problem. What you need to know though is that having this failure increases the chances of passing it on to your future potential downline. But unfortunately we can not do a genetic examination every time we want to have a child, it is not possible ...

I learned today that mental retardation and epilepsy do not systematically pair on KCNT1, one can have mental retardation and no epilepsy or have epilepsy and suffer from no mental retardation. So there are children who suffer from epilepsy, but who go to school normally and not in a specialized center (I always speak of children with a failure on KCNT1, if so.)

Yes, all patients with KCNT1 failures are not housed in the same setting, each responds differently to failure, and this is also valid for treatment. The same treatment, on two children of the same age, with similar mental retardation and about the same number of seizures will necessarily react in the same way to the same treatment, taken at the same doses and at the same hours. This is very important to know, and this is valid for ALL TREATMENTS.

All that to say what? You do not need to compare your treatments and their effects to your children, saying "thin, me it does not do it or it does not react like that". Your child has 100 crises a day or it has about ten, it is under Quinidine, Rivotril, Epitomax, Tegretol, Urbanyl or even CBD (or other) -> OK, there may or may not be results, in all cases, at the present time, there is no MIRACLE treatment.

Sometimes there will be very encouraging developments, such as a marked decrease in epilepsy, respiratory problems, increased muscle tone, appetite, language development, increased interaction with others (and really incredible), and sometimes (increased seizures, liver problems, etc.), but to date, no treatment is unanimous, the magic pill has not yet been invented, you know, the one that solves all the problems and which could allow you to walk on the water like Bruce Almighty.

We would like to be able also with a magic wand or a genius available to give us a little boost, nothing like a magic lamp to change the deal ...

Okay, maybe I'm getting slightly cynical, or even blatantly, let's try to stay positive, it's possible that one day medicine finds an effective treatment on all patients with KCNT1, and hopefully, keep hope, but in the meantime we have to grop with what we have at hand, test what we want to give us and try to do as well as possible with all the constraints that it implies on a daily basis.

In any case, I want to tell you, dear parent, who plays every day to give the best care to your child, who wonders if you give him the proper nose wash, if you give him enough time , if your child is suffering, you are sufficiently attentive to what it expresses to be able to have the reactions that are suitable, you who have the impression that you are tear your heart every time your child makes a crisis epilepsy, spending time in hospital and certainly much less caring for you, your house, others, your job if you still have one, I want to tell you that I admire you and that

I find you wonderful or wonderful for all that you go through and for
the strength that is needed to stand still and move forward despite everything, I want to tell you that you are not alone and that if you need to discuss, you can contact me by mail via blog, I would like to tell you that it is not easy to keep up morale and cope, but that I know what you are going through and that I know that you are able to manage all this as a pro, without disassemble and keep faith no matter what. So, yes, you have the right to lift your thumbs and say "Yes, I'm a mother (or dad) who tears!" or "Because I'm well worth it!"

Let's go to Cannabidiol (yes, it was time).

If you ask, dear reader, if I was under Cannabis too when I wrote this article, know that, no, it is my normal state (worrying, yes, I know ...)

Let's go to Cannabidiol (yes, it was time). If you ask, dear reader, if I was under Cannabis too when I wrote this article, know that, no, it is my normal state (worrying, yes, I know ...) MORE INFORMATION ON CANNABIDIOL here or here

As I said earlier, no treatment is 100% effective and on all patients with pathogenic KCNT1, however, CBD can have quite encouraging effects on some patients.

I have had all the possible feedback on the treatment of this treatment, coming from the parents who tested it, but here is some medical information coming directly from Professor MILH, the neuro-pediatrician who follows Eliot on the La Timone Hospital in Marseille.

There have been factual tests with CBD (Cannabidiol) internationally on a number of children. It turns out that the results are not unanimous, regardless of the treatment they were taking before, regardless of age and regardless of the intensity of the effects of their pathology. There were results on 40% of the children treated, with more or less effect on epilepsy and more or less effect on the awakening. Some children were more amorphous under CBD, others more awake, some had much less epilepsy, others more, the number of children who no longer had epilepsy at all after these tests, is 5%

What should we do? Is it useful to test it?

I would say that you should first talk to your neuropediatrician and DO NOT TRY TO GIVE THE TREATMENT ONLY WITHOUT PRIOR MEDICAL ADVICE. The neuropediatrician will not be able to prescribe you, but will be able to refer you to the doses, the reduction of the treatment that your child is already taking.

If you wish to test it, you should know well, there are possible side effects (liver problems for example) and it will be necessary to make regular blood tests to check that everything is going well.

Something that could be an alternative:

 Your child is amorphous, it opens little eyes, see not at all and does not move almost:

The treatment he is taking may be too strong (or more appropriate)?

 Perhaps it would be time to consider asking whether we can reduce the doses and see the effects of that.

This is what we are going to do on Eliot at first, over several weeks, then if the decrease of one of the drugs that it takes goes well, one will decrease other drugs. If this proves to be insufficient, the reduction of medicines reduces the seizures but there is not much going on in terms of awakening, or if the crises stagnate, in short, if one sees little difference, even if no symptoms increase, at this time, it will be question to test the CBD, to see if it could be effective on Eliot.

The goal of the game, in any case, is to find the most appropriate treatment, and to make sure your child feels as good as possible, CBD or not. Do not hesitate to ask lots of questions, to the doctor, to the parents, to propose alternative treatment if you feel that the one that your child takes is not adapted and to remain curious, because there is nothing more important than information about a rare disease, stay informed.