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“Usually, you’re relatively alone in your rare disease community” – Interview with Shelley Simmonds, Patient Advocate for rare diseases

Shelley Simmonds is a patient advocate whose son has Duchenne muscular dystrophy. Duchenne causes muscle weakening and wasting and is caused by a mutation on the dystrophin gene. Shelley joined us at the Festival of Genomics and spoke about being part of the Genomics England Patient Participant Panel. 

FLG: Can you introduce yourself and your work?

I’m Shelley Simmonds. I have an almost 7-year-old son who has Duchenne muscular dystrophy, he was diagnosed at 11 months old back in 2014. I became involved with the 100,000 Genomes Project because my son hadn’t presented with Duchenne in a typical fashion, and it was the general consensus that he might have another genetic condition alongside having Duchenne. As a result of my family enrolling in the 100,000 Genomes Project, I have joined the Genomics England Patient Participant Panel, and from there, the Ethics Advisory Committee. I also spent time volunteering for the national charity Action Duchenne.

I completed the 2018 EURORIS Summer School and have been accepted onto the Eupati Expert Patient training course for 2020. I have had many speaking engagements over the years as a rare disease patient representative and my writings have been used by pharma and psychologists for training in different organisations. Our social media community whereby we share our experiences of living with a disabling rare disease, has over 12,000 followers – Fraser & Friends.

FLG: Do you think more awareness needs to be built of some genetic disorders? If so, do you think this could help in finding treatments sooner?

Absolutely, there needs to be more awareness for rare diseases. Duchenne is one of the most common rare diseases, yet I’d never heard of it until my son was diagnosed. Any other Duchenne parent will tell you the same too. It’s all about getting the awareness out there which then leads to people fundraising, and that hopefully helps to find treatments because what you will find is that very few rare diseases have any government funding for research.

FLG: What do you think the future for rare diseases looks like?

I look to treatments rather than a cure and I give the example of HIV. If you remember back to how that was in the 80s – if you had that diagnosis you would die. That’s what would happen to you. Whereas now, because of emerging treatments, it is a chronically manageable condition and I think that a lot of rare diseases will go the same way.

Where science and technology are concerned, it’s difficult because it does move quickly, but there will always be hurdles that you face, especially with rare diseases and clinical trials. Potentially therapeutics may work in the mouse model or a dog model, but when it comes to human trials, they fall at the first hurdle. There’s still a lot to overcome and learn I think.

FLG: What do you think is the most exciting thing happening in the genomics field worldwide right now?

The speed at which now you can read someone’s genome! I remember hearing that if you were to run a genome sequence back in the 80s, it would have taken something like 50 years to have read your entire genetic code. Now it takes less than 24 hours which is an incredible pace to have changed.

Why have you decided to participate at the Festival of Genomics this year?

I came last year, and I thought it was a brilliant festival. This year I’ve been invited to speak, and I will be speaking from a parent’s viewpoint about having and living with a rare disease. Events like this are brilliant for connecting people because when you have got a rare disease or you work in the rare disease space, making connections is really important. Usually, you’re relatively alone in your rare disease community, but together you can learn a lot and achieve great things.