<div>We found out in November 2022 that two of our three children aged 14 and 9 have a newly discovered DHDDS gene mutation which causes a progressive metabolic disorder. This disorder means that our children and all those suffering with these mutations suffer with neurological symptoms such as tremors, myoclonus and learning difficulties. Many others also experience ataxia and seizures. We have been told that as our genetic mutations are so rare (only 70 cases have been recorded in the world so far), and because they have only recently been discovered, there is currently no treatment available for them.
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<div>Our children are full of love and life but every day we have to watch them struggle with basic tasks that we all take for granted. We watch our children's hands tremble as they try to do up buttons or hold a glass to their mouth. We watch as they pick themselves up and brush themselves down after yet another fall as their balance is so reduced. And we watch as they struggle to process the environments around them as its too busy, too noisy and too hard to understand. We also watch in fear for signs of regression, as we know that in many cases these symptoms worsen over time. Our children and all those battling with these mutations are warriors, but they cannot fight this battle alone.
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<div>Scientists hope that through drug repurposing or novel treatments we could find a way to target the symptoms at cause and prevent disease progression, but first they need to research these mutations, to gain a proper understanding of them, and we cannot do this without your help.
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<div>Our initial aim is to raise £500,000 to help fund research and expedite treatments. We are also looking into ASO and RNA therapies, which we hope can one day cure this disorder.
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<div>Please help our rare disease warriors in their battle by supporting us. The faster we raise money the brighter the future will be for all those living with DHDDS mutations. Any size donation will make a difference, and if we surpass our goal, we will put the extra funding towards our other scientific projects. Please donate to Cure DHDDS today and help bring rare diseases into the light. Thank you for your support.
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<div>For more information about DHDDS please visit our website <a href="https://www.curedhdds.org" target="_blank" rel="noreferrer noopener">www.curedhdds.org</a>.
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<div>Cure DHDDS is a registered charity (1202643)
</div>

Anonymous

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MAUREEN WHEELER

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Liz Baillie

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