Friday, March 20, 2015

I am Angry!

I am angry! I am frustrated! I want to scream from the top of my lungs!
You are probably wondering why that is…and with good reason. Allow me to tell you then.

Have you ever heard of the Allan-Herndon-Dudley Syndrome? No? Neither have I until very recently.
Why do I know it even exists? Not because I really enjoy reading medical bibliography or I’m fascinated with the medical arts but because my baby has been diagnosed with this syndrome. He is 15 months now, a whole life in front of him and yet, not. I know, it sounds like an episode from Doctor House doesn’t it?
When you think of something bad happening you never think that it will happen to YOU. These things happen to other people or in the movies. Not to YOU.
On a scale from 1 to 10 this is a 20 on my worst nightmares list. Maybe you can relate, maybe not. It doesn’t really matter because this article is not for you. It’s for me and for any other parents who might be in a similar situation. Who have searched for months to understand what is wrong with their baby and found nothing and no one to point them in the right direction. Who have been pushed around, put on hold, given false hope or, on the contrary, given no chance at all by doctors; who don’t dare to hope anymore.
This is what we found till now. Allan-Herndon-Dudley Syndrome was one of the first X-link mutations discovered and yet it continues to elude modern medicine due to the fact that there are very few diagnosed cases. I read that there are around 50 families all over the world with less than 200 documented cases. Furthermore, the pool of patients is so small that no pharmaceutical company in its right mind will invest in research and development of a treatment for this syndrome.
This is what they actually know… It is indeed an X-link mutation (Meaning that it is transmitted only from mother to child). From the blood tests point of view, this syndrome shows elevated levels of FT3 and low levels of FT4 with normal THS. Girls are not affected by the syndrome; they might though develop light to medium thyroid problems during their life time but with thyroid problems being so common these days they are not even sure of that. Boys on the other hand have between 25 to 50 % chances of manifesting the syndrome.
Some of the symptoms include hypotonia, under developed muscles, joint deformation and the list can continue. Up until now, doctors believe that AHDS is strictly related to mental retardation. Things have started to change though since there was at least one documented case of a boy (in Italy I think) that had been diagnosed with AHDS but presented no mental delay what so ever. So, at this point we don’t really know what we know.
If you are unfortunate enough to have your kid diagnosed with this syndrome prepare yourself. Since it’s one of the few “virgin” medical subjects left, doctors make queues to “offer” you their professional opinion while looking at your son as if he is juicy experiment waiting to happen, a little lab mouse to be dissected in the name of an illustrious doctorate waiting to be writer.
The syndrome we will fight till the ends of the earth and more but this? How do you fight this?
NOW can you understand my anger? My frustration?
It’s discussing and infuriating to see in a doctor that is supposed to be helping you, to be helping a baby the look of a hungry wolf sniffing its pray with a watery mouth.
Getting back on track …Treatments? There are none till now. There are some medications that have been tested in the States with some success. There is a medical trial for a drug called Traic in Holland, but basically that’s that. The site to find more about this is
Don’t even think of going down the slippery slope of stem cells treatments. There are many health centers located in country with questionable to no stem cells laws that will promise you the world and will pray on your desperation with a very well thought sales pitch.  There is no treatment for AHDS that involves stem cells yet and contrary to what everyone tells you, stem cells may have huge and grave side effects. At this point there is only one ongoing research on the subject and it is happening at