Shelley Simmonds recently attended the Festival of Genomics, the largest genomics event in the United Kingdom that is quickly growing into the biggest event in the world. It involves a host of speakers, information about treatments, and inspirational talks, and offers the opportunity for people, patients, families, providers, and organizations to connect, brainstorm, and form a community of progress and support.
At the most recent Festival, Shelley Simmonds spoke about her participation in different Genomics organizations, panels, and volunteer opportunities after her son’s rare disease diagnosis.
During her talk, she gave her own experiences with having a son diagnosed with Duchenne muscular dystrophy (DMD) and also provided important information and inspiration for families in similar situations. DMD is a progressive form of muscular dystrophy that mostly happens in males and causes the skeletal and heart muscles to atrophy and weaken which progressively gets worse and can spread to other parts of the body with age.
Shelley Simmond’s now seven-year-old son was diagnosed with DMD when he was 11 months old. Because her son did not have some of the more typical symptoms and signs of DMD initially, providers thought he had another genetic condition as well as DMD.
Simmonds enrolled in the 100,000 Genomes Project and has since joined the Ethics Advisory Committee and volunteers for the UK charity called Action Duchenne.
Simmonds has been heavily involved in the rare disease community in several ways including being accepted and participating in training courses, speaking at many different rare disease events, and as a patient representative for rare diseases. She has written articles that pharmaceutical companies and psychologists have used. Simmonds even uses social media to help explain and break down the wall to observing how it is to live or be a caregiver to someone living with a rare disease.
Simmonds believes that there needs to be more awareness created around rare diseases. For example, although Duchenne is a fairly common rare disease, families likely have never heard of it until they have a family member who is diagnosed. Simmonds also shows concern for the fact that very few rare diseases have government funding to conduct research.
When it comes to the future of rare diseases, she believes that there may be hurdles with science and technology for creating treatments, such as clinical trials that may initially work on animals but fail with the human trials.
Simmonds says that although people are generally alone when navigating a rare disease, connections with a rare disease community are essential. These connections, like the Festival of Genomics, can offer great opportunities to learn a lot and achieve great things.
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