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On rare disease day, let's think about those fighting for others

Words by Abi Scaife

By definition, rare diseases are not ones you may readily have heard of. Diseases like cancer all stick in our minds because most people know someone who has been affected by cancer (not that it makes it any less devastating when it happens) - but also because there are so many people trying to cure it.

Rare diseases, however, are less well known and therefore have less support. But Sophie Muir, chair and founder of the Timothy Syndrome Alliance, has never let that stop her.

Timothy Syndrome is caused by a mutation in the gene CACNA1C. The syndrome affects your child’s heart, physical appearance, and nervous and immune systems. More than just rare - this syndrome is known to affect less than 100 people worldwide.

Like a rare disease private investigator, Sophie has spent years tracking down other families who have children with the condition. Today, they have a Facebook support group, allowing them to stay connected, share tips together, and provide encouragement and support for parents and kids alike.

“We need to find more families - more research will give us more answers,” explains Sophie.

Though less than 100 people worldwide have been diagnosed with Timothy Syndrome, there may be so many more who are affected. Because of how rare Timothy Syndrome is, patients may struggle to get a diagnosis - simply because there is so little knowledge that it exists. 

That’s just one of the reasons Sophie is so intent on raising awareness for the Timothy Syndrome Alliance and, in turn, Timothy Syndrome - so those who have the disease can get the answers they so desperately need.

“There are thousands of kids sitting in paediatricians' offices [and] clinics all over the world but nobody has really been looking for CACNA1C,” explains Sophie. “[There are] so many questions, but because the gene is in the calcium channel and [it] goes through the whole body - it affects all cells.”

With the disease being as rare as it is, it's so important to Sophie that families are found, contacted and get involved. The more people with Timothy Syndrome that the TSA knows about, the more research is able to be done - research that goes towards making the lives of everyone affected by Timothy Syndrome easier. 

“The more engagement [there is] with research, [the more] we’re able to feed back to the families some of the knowledge that we’re finding to be able to help,” says Sophie.

Working solo on a daily basis, other than help from her board of trustees, Sophie spends her whole day juggling being a mother, including one child who has Timothy Syndrome, partner and pet owner with championing support for this incredible charity.

While they have a few volunteers, Sophie is, primarily, the captain, first mate and sailor of the Timothy Syndrome Alliance. Between fundraising, raising awareness of the charity and running the day-to-day, 

“We’re so rare, people haven’t heard of us,” admits Sophie. “People tend to be more aware of the more common rare diseases and, as we are super small and super rare, it’s very difficult to get your voice heard.”

Rare Diseases Day occurs on the 28th Feb every year, and is meant to bring awareness and support to those who are affected by rare diseases or actively performing research into them. 

The Timothy Syndrome Alliance was set up in order to help fund research into Timothy Syndrome, as well as to provide support to families in the UK and worldwide who are affected by the disease. 

If you’re interested in supporting the Timothy Syndrome Alliance for Rare Disease Day, you can do so by donating through their website.

This article aligns with the UN SDG Good Health and Wellbeing.

This article aligns with the following UN SDGs

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