Jamal and his family have long believed their son to have Marfan syndrome but it's taken ten years to reach a diagnosis. Now on a mission to raise greater awareness, Jamal and his family are taking part in the Marfan Trust’s Stand Tall In April. From sponsored runs to sponsored head shaves, they are truly galvanised and determined to make a difference. We are truly grateful for their feats of fundraising!
If you too would like to get involved, please visit Stand Tall In April
Written by Jamal Hussein
Recently we received the news we had suspected for ten years, our lego-loving comic-book -reading son was finally diagnosed with Marfan syndrome. When our son was around two, we started to notice signs something was going on. Muftahs shoulders would often dislocate his joints and he was having more bumps and falls than one would expect their two year old to have. This coupled with a very thin frame and long limbs, we suspected our son had an underlying condition.
After seeing numerous geneticists and pediatricians, Muftah was diagnosed as having Ehlers Danlos Syndrome type 3/Joint Hypermobility Syndrome and Marfan Habitus. Fast forward nearly ten years, after numerous visits to the: GP, Physio, Orthotics, Cardiology, Ophthalmology and countless blood tests. A geneticist has identified that Muftah does in fact have mutations in the FBN1 gene causing him to have Marfan's Syndrome. My partner, after doing extensive research, had suspected Muftah of having Marfans at an earlier stage in his medical journey, an assumption which was often pushed aside by medical professionals.
Our son's diagnosis, although not a shock, has had a heavy impact on him, and the wider family. This has been compounded by a recent visit to Great Ormond street hospital, where Muftah underwent further tests and a meeting with a cardiologist, who will be starting Muftah on medication in an attempt to slow the growth of our son's enlarged aorta.
This has led us as well as our wider family and friends to get involved in the Marfan's Trusts; 'Stand Tall in April' fundraiser, with sponsored runs and even a sponsored head shave. We identify with the Trusts mission in spreading awareness of Marfan's, and funding much needed research into the condition.
In our experience general medical professionals often have little to no knowledge regarding Marfan's syndrome, which has led to a convoluted and protracted journey for our son receiving a diagnosis from specialists.
Our hope is by supporting the Marfan Trust and the work they do to create greater awareness in the medical community and general population, will aid in those with Marfan being diagnosed quicker, and receiving treatments that will assist them with managing the condition and in their day to day life.
Although our son will have to live with Marfan's for the rest of his life, we will not allow the condition to define him. Although in his own words he looks forward to always being the tallest in the room.