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Children with Allan-Herndon-Dudley Syndrome

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tom agor

on 11 February 2017

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Transcript of Children with Allan-Herndon-Dudley Syndrome

Children with
Allan-Herndon-Dudley Syndrome

So what actually happens?
It's as if the brain suffers from severe hypothyroidism while the rest of the body suffers from severe hyperthyroidism.
What is the incidence of AHDS?
Allan-Herndon-Dudley Syndrome is extremely rare. A recent (2016) Orpha.net report shows 320 diagnosed cases all over the world.
Superheroes amongst us!
What happens in AHDS?
The thyroid produces hormones normally and in the correct quantities....
The thyroid hormones never reach the brain
The result is severe hypotonia and psycho-motor delay. As an example, holding the head is the first milestone a new born needs to meet. Children with AHDS will struggle with this milestone all their lives.
The hormones are stuck in the body
The thyroid hormones that should have reached the brain but never did are stuck in the body creating an "angry mob" that attacks other organs. The most exposed to the risks being the heart.
...but the train is broken
MCT8, the transporter responsible for delivering the hormones to the brain is not working properly due to mutation.
AHDS is an X-Link syndrome meaning that it's passed on by the mother.
Technically that makes children with AHDS the X-Men of our times but with no cool powers.
Why is this presentation important?
When you don't know you have a problem is very unlikely to look for a solution.
AHDS was the first X-Link syndrome ever discovered in 1948. In 68 years no progress was made regarding the treatment.
That is due to the fact that people don't know this syndrome even exists.
Save a superhero's life!
Help us get this problem known so that the World may begin searching for a cure.
Thank you!
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