Ohio Network on Clark's Announcement

Ohio Network has published an interview with parents of a patient and Dr Clark that is quite interesting:
http://www.onntv.com/content/stories/2012/07/03/story-autism-study.html

Sensational News from Research

On Monday Dr Clark from Cincinatti announced great news on his Facebook Creatine Transport Deficiency Group:
"Dear creatine deficiency group,
I am pleased to announce that today we published this article:http://www.jci.org/articles/view/59373, in the highly prestigious Journal of Clinical Investigation demonstrating that we have found a treatment for the creatine transporter deficiency. This research has, to date, only been done in mice with the disease, but the treatment is with a repurposed drug that has already been through PART of the FDA approval process. It is not approved for CTD, nor is it available for treating any disease. However we now know that we can treat this disease and are in what we hope will be the final stretch for treating boys with this disease. 
I will always update the group as things progress. What you can do is tell your physicians to be aware of this paper and be ready..."

The Link to the paper can be found under:

http://www.jci.org/articles/view/59373

Facebook group on creatine diseases

Joseph F. Clark, Ph.D.,Professor of Neurology at the University of Cincinnati has started a facebook group on creatine diseases "to bring together bloggers, scientists, physicians, caregivers and patient advocates".  He answers questions and gives updates on research. It is really worth reading...
http://www.facebook.com/#!/home.php?sk=group_127389967322193. 

New research results from Cincinnati

The University of Cincinnati / Ohio has published a research article on their success with the breeding of mice with CrT Deficiency. These mice can now be used to do better understand the defect and to find a medication.

You can find the article at
http://www.plosone.org/article/info:doi/10.1371/journal.pone.0016187;jsessionid=C0B0806E3FE3D12DF307186566F3E4DF.ambra01

New medication

After a long period of silence this is news about J..


J's doctor for metabolism diseases gave us the advice to change J,'s medication.
On the one hand he gets more arginine, creatine and glycine (0.5g more each).
On the other hand we have started an attempt with Strattera (Atomoxetin).
Even though there (of course) are no experiences with Strattera and the creatine transport deficiency, J's doctor  hopes that J's very short attention spans become longer and he can learn things better.

Right now we are watching him very closely as Strattera can have strong side effects.
We realize that he follows things better and tries things out. We can lead him better in the Affolter way.
Just 2 little examples:
Yesterday evening he helped me cooking and cutting vegetables. He has not done anything like that for longer before. And last weekend he watched a little kids dvd. Even though it is not our goal to make him watch TV this was a step for him as he has not followed TV for longer before. This could mean his cognition is changing.


If those little steps are because of the new medication of just contigency time will tell.


Please cross your fingers for J and us that it will help.

If you think about such a medication for your kid please contact us by mail to get more information.

Heidelberg parental training

I do not know if this kind of training is something specific German. But I will try to explain what it is about: Maybe you find something similar for you in your country.
The training helps to find out reasons for a delayed speech. You learn how to behave speech supportingly to your child: This means you learn how to look at picture books and how to support your child's speech while playing. You learn finger games and little songs.

At the moment we are participating the training for globally delayed kids.
I am not 100% convinced of this training as we have investigated a lot on that topic already. Therefore there is not much new we take from the training. But I guess it is great for parents who have not yet dealt much with language delay etc.

Our problem is that the training focusses on picture books, but J. is not interested in picture books at all. They do not show many alternatives to books and practical hints. And he is far to old for finger games.


Therefore I am a bit disappointed as I was really interested in that promising training.

Change of Therapies: Occupational Therapy

Quite often you think about the right therapy for your kid.
We have changed the occupational therapist quite often until we were happy.
This is my advice for everybody.
In the beginning we started with a general occupational therapy, but it felt like the therapist did not have a concept and could not say why she did certain things with our son.
As J. (my son) does not yet talk we tried Castillo-Morales (http://www.castillomoralesvereinigung.de/  pages available in English). But it did not really fit J.'s needs. Additionally our therapist cancelled the sessions. Therefore the continuity was missing.

We got a hint to try the Affolter Therapy. This really looks good to us (our therapist is not too dogmatic but adjusts the therapy to our son.
Since J. has started this training he really improves (eventhough the steps are really small).

Therefore: If you feel you do not have the right therapist - make a change!