‘My children’s condition makes them just two of seven cases worldwide – we’re racing against time’

Sign as much as our free Living Well e-mail for recommendation on dwelling a happier, more healthy and longer life

Live your life more healthy and happier with our free weekly Living Well e-newsletter

A household whose two kids have a gene mutation so uncommon they’re two of just seven confirmed cases within the world really feel like they’re in “a race against time” to seek out treatments.

Mel Dixon, 45, and her husband Charlie, 47, who stay in East Sheen, discovered that two of their three kids – Tom, 14, and Rosie, 9 – have a DHDDS gene mutation after years of appointments and testing.

The neurodegenerative condition causes tremors, coordination points, and studying difficulties, doubtlessly resulting in Parkinsonism and dementia.

When recognized, the couple have been advised that there have been solely 59 confirmed cases worldwide – though there are 70 documented now – and that there isn’t any therapy obtainable.

Of Tom and Rosie’s explicit DHDDS gene mutation, which might trigger kids to expertise developmental delays and seizures, at the moment there are solely seven cases confirmed worldwide, inserting them within the nano uncommon class.

Day to day, the two kids use weighted cutlery to eat as a result of their arms aren’t “steady enough”, they use heavy glasses that are half full to stop spillages, they use thick pencils to help with their grip, they battle with their stability, they usually be taught at a slower tempo – the “little things that we take for granted”, Mel stated.

Given there’s at the moment no therapy, Mel and Charlie are fearful of the long run as they have no idea how rapidly their signs may progress – and that is what led the couple to arrange their very own charity, Cure DHDDS, in 2023.

The couple hope to boost consciousness, assist households, and assist drive analysis into the ultra-rare DHDDS gene mutations to seek out therapies earlier than irreversible development of the condition takes place.

“Even if you meet Tom and Rosie briefly, you may not notice they have challenges – yet every day this mutation is untreated, it’s causing them damage,” Mel stated.

“They’re kind, resilient, funny, and loving. My daughter loves singing and dancing, and my son loves technology, cars, and trains. He always looks out for Rosie and makes sure she’s okay, and Harry is very protective of them both.

“They both have so much joy to give the world, and are more than worth every bit of this fight.

“Our hope is that if we can help some of those symptoms, or stop them from getting worse, they could potentially be independent later on if we can intervene in a timely manner.”

Mel and her husband Charlie, who works in fund administration, have three kids – Tom, 14, Harry, 12, and Rosie, 9.

After Tom and Rosie have been born, they have been “late with all the milestones”, equivalent to strolling and talking, and each have been recognized with delicate studying difficulties and dyspraxia, which impacts their co-ordination, whereas at major faculty.

At the age of seven, Tom was recognized with autism as properly – however earlier than this, Mel and Charlie had began to note a “tremor”, which was “the anomaly”.

“When he was going to do certain movements, I would notice a hand shake and it just seemed to be increasing,” Mel stated.

The household met a number of neurologists however no trigger for the tremors or studying difficulties was found, in order that they determined to go to a personal clinic which screened for a spread of genetic situations.

The first panel of take a look at outcomes got here again as detrimental, so the couple hoped the children’s signs would enhance over time – however this was not the case.

It was solely after Tom and Rosie underwent Whole Genome Sequencing testing at St George’s Hospital in London, which might detect adjustments in your genetic make-up, that the DHDDS gene mutation was found.

“We got the call from the geneticist, and she said they’ve both got identical variants. They’ve got one spelling mistake (a mutation) in a very important part of their DNA,” Mel stated.

“We’ve all got spelling mistakes, but it’s where they are, and their mistake is in the wrong place.”

The couple have been hoping for a analysis that might be treatable, however as an alternative they have been advised there isn’t any therapy, it’s neurodevelopmental and neurodegenerative, and it’s extremely uncommon, which was a “difficult pill to swallow”.

Without therapy, signs equivalent to psychosis, Parkinsonism, and dementia can take maintain of many DHDDS sufferers.

“In rare cases, such as ours, it’s the families that end up advocating for the treatments,” Mel stated.

“We had waited months for this and then we were told there’s literally nothing, there’s no pathway.

“We’re basically waiting for symptoms to progress and then we’re just reacting to their symptoms.”

Mel described the analysis as “overwhelming” and “devastating”, and her solely supply of info was a medical paper, which contained particulars of 25 case research with the DHDDS gene mutation.

“We’re up against some potentially devastating symptoms if it’s allowed to progress to that point,” Mel stated.

“Not everyone has had dementia, and the timescales at which things happen are still unknown.

“There are some at 17 who are losing their ability to walk and then there are some who are more able later on in life and have had a much slower decline than others.”

While the two kids by no means complain and are extraordinarily resilient, Mel and Charlie knew they wanted to be proactive to attempt to discover a “solution” – and thus their charity, Cure DHDDS, was launched in April 2023.

They have been thrust right into a world of science and “lobbying for treatments”, they usually have since created a Facebook group known as Cure DHDDS and NUS1 Community, which now has 100 members.

They have 11 analysis tasks that are ongoing, they held the primary DHDDS convention on-line final 12 months, which was a “proud moment”, and they’re working with scientists and specialists the world over to attempt to discover therapies.

The couple imagine information is energy and stated their kids are “a huge motivational force” in what can really feel like a “hopeless situation” – however their biggest impediment is cash, as they want hundreds of thousands of kilos to fund analysis.

With a collaborative method, and their ardour, they’ve “hope” they are going to discover a remedy that may assist their kids and others.

“I’ve got no control, it’s an uncontrollable situation, but I’m working all the time to try and change that and to give them a better outcome and to turn things around for them,” Mel stated.

“It feels like a race against time… but the way I function and the way I’ve dealt with this is just never give up, and I really feel that if I give this my all, I can make a difference.

“When you’re told there’s nothing they can do, don’t accept it. Work and fight for what you believe, and there’s nothing greater than fighting for your children.”

To discover out extra in regards to the charity, go to: curedhdds.org. To donate, go to the fundraising web page right here: gofundme.com/f/Help-find-a-cure-for-our-dhdds-warriors.