Andreas-Rares was born on the 5th of December 2013. At the age of one year old, after more than 8 months of search, he was diagnosed with Allan-Herndon-Dudley syndrome, an extremely rare genetic disorder. Our entire world came crushing down with his diagnosis.
Allan-Herndon-Dudley syndrome (AHDS/MCT8) is a genetic disorder that only affects boys. Children with AHDS struggle to support their heads, are affected by hypotonia, severe mental and motor delay and the subsequent health complications may lead to a very early death. Allan-Herndon-Dudley syndrome has no cure and no treatment to this day. Orpha.net portal approximates a total of 320 patients all over the world (2016 data).
This syndrome is virtually unknown to medical professionals. That, along with the fact that there are very few tests that can point to this syndrome, makes it all the more difficult to diagnose and as a consequence lots of patients are being misdiagnosed.
Here is a little presentation we’ve made about how AHDS affects the patients:
Andreas-Rares diagnosis was one of those few moments in life that shaped our future. We, as parents, had two big options in front of us: either accept the situation as a given, retain no hope and give up the fight OR stand up, stand our ground and fight for his feeble chance of rehabilitation, however long and difficult that road may be.
I guess, me and my husband, we’re both pretty stubborn people as the thought of giving up has never even crossed our minds. And this is how our journey began.
We started reading extensively about anything and everything that could help him, even remotely connected to his struggle. We acquired knowledge and expertise in areas we had never known to exist before: pharmacokinetics, disease mechanisms, drug delivery systems, several kinds of therapies, special needs equipment, building our own special needs equipment designed for his particular needs and so on.
Andreas-Rares started therapies at a very early age and we have increased the number of sessions steadily as his muscle tone and energy levels allowed for it. He is now doing four kinds of therapy, ten times per week. All these therapies are meant to delay the onset of severe symptoms and increase his quality of life. However, we never stop hoping for progress and he never disappoints.
As improbable as it is for someone with his condition, he manages to sit with minimum intervention, he can stand and even place steps and he lifts himself off the ground by pulling on things. He is getting better at using his hands as well, he can build towers, sort cubes by size and even clap his hands. This is why he is our superhero! No mountain is too high for him!
Support Andreas-Rares in his battle against the odds!!
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