Our story.
We are a passionate and determined group of people from across the world brought together by the shared goal of learning more about the rare genetic disease, acrodysostosis.

Who we are
Acrodysostosis Support and Research are a community made up of people living with the disease, their loved ones and scientists and doctors interested in researching acrodysostosis.
We began as a Facebook group in 2015. Faced with a lack medical treatments, parents and loved ones of children living with acrodysostosis began to share information and advice with one another.
We connected with medical experts interested in rare genetic disorders, giving us the chance to champion research into acrodysostosis and created invaluable partnerships with medical experts.
We understood that not only could healthcare professionals help us – we could help them.

What we do
There are 400 million people globally living with a rare disease and Acrodysostosis is one of the rarest. It has no treatment and no cure.
We have a database of over 100 people – mostly children and young people – diagnosed with acrodysostosis worldwide.
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In many cases, a diagnosis is made after months or years of uncertainty about the condition. Furthermore, there is very little that doctors can do to help past diagnosis, outside of treating each symptom with traditional therapies.
Because acrodysostosis is so rare, the medical world simply does not have enough data to understand the disease properly yet.
We want to change that.
Our goals
Lead discussions
We make sure that our community is always at the forefront of efforts to find treatments for acrodysostosis.
Influence research
The data we collect will be used for research and potential clinical trials in years to come.
Share knowledge
We work with experts to share important information about this incredibly rare disease.
Change the future
Together, we are working to better understand and treat acrodysostosis in the future.
Our achievements
So far our community and charity has made great progress, including:
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Establishing a medical board with eight of the most eminent doctors in the field of bone disease and acrodysostosis – and offering free diagnosis to any patient in the world. For more information about this please contact info@acrodysostosis.com
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Producing an acrodysostosis information leaflet with Costello Medical for healthcare professionals.
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Partnering with Great Ormond Street Hospital to jointly fund a £250K three year research project.
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Publications in Nature and for a growth research project that we collaborated on with our medical board.
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We have joined the European Rare Disease Network (ERN ITHACA).
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Setting up the first International Patient Registry for the disease. More information about this will be released soon.
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Driving research into acrodysostosis with nearly £2 million pounds being raised from grants by our researchers and supported by our charity.