It has been a long time since I posted and a lot happened. First, we moved to Switzerland, and even it was a smooth move it was some hard work to get our stuff into a house only the half size than what we had before. But we love our new (own!) house very much, the surrounding is so beautiful. The hills named Jura are right in front of our door and just lovely. The main issue is the language Swiss German! Its so hard to understand even it is German, its totally different. But slowly we are getting to know our new country and we loved it from the beginning.
There where some changes with Nicky right after we moved it. He was very badly constipated for over a week. We know he is reacting with constipation to big changes, he always did. This time it was very bad and he was in so much pain. The whole thing lasted till I saw a doctor two weeks ago. I was driven by the idea to finally fix that problem. And not to let any doctor to only look at the autism plate and not going any further. B/c that what was happening the last eight years. I was just to scarred now that the insides from Nicky are totally hurt.
So by accident I found this pediatrician who is also a Professor and had some publications about Celiac disease. And he has his practice just 15 minutes from our house. When I called him he told me that he is booked out completely but he would love to see us the following Saturday morning. He told me right away he can not help us with autism, but with the constipation he can. GREAT! That sounded like my kind of doctor.
The following morning we saw him. And he was so different from all the other doctors we saw (and there are many trust me!). He didn't want to hear Nickys history, he just looked at him, took some measurements. He also consulted another doctor who is a neurologist. Then he sat down with me and told me a plan about the constipation. He also told me that Nicky has the wrong diagnosis but he has to read a bit more. Then he send us home with a 9-day-kit to take care of the constipation.
The cramping where gone within 24 hours, Nicky was happy again and so was the rest of the family.
We just saw the Doctor last week and he read ALL paperwork I brought him over. That a foot high pile of paper. He told me he is pretty sure Nicky has a condition called Rubinstein-Tabi syndrome . He told me its a genetically condition and we can run a test. Unfortunately no health insurance is covering and its about 2700 USD if you still want to run it. I said no thanks to the test, b/c it doesn't make a difference in his therapies and there is no cure.
After so many years how can it be nobody ever looked into this condition and this one doctor just took the time to look at my son and see it?? The autism diagnosis comes with the Rubinstein-Tabi dx, it very often does, so does the constipation part. It all fits. I am glad I found this doctor, he takes his time and he told me right at our first meeting. I like that.
I asked the doc if we should should continue with the gf/cf diet and the vitamins. He said I should skip glutenfree and see if there are any changes.
Since this weekend Nicky is eating his first gluten since 2006. So far he is alright but we know it can change soon and then we know he is better off then with.
I keep you posted, this whole thing is spinning in my head, did we go the wrong path? I don't know, but I know we always tried the best for Nicky and we will continue to do so!
Happy Easter!
