Alexandra Gardyne: Healx partnership is exciting for people like me with FSHD

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Alexandra Gardyne, 33, from Gorebridge, Midlothian, Scotland, was diagnosed with FSHD when she was 22. She is a Muscular Dystrophy UK supporter and volunteer. Here, as Muscular Dystrophy UK announces a partnership with Healx, she talks about her diagnosis and how she hopes the partnership will result in treatments for her condition. 

“I experienced mild symptoms of FSHD from toddlerhood, including my facial weakness and difficulty with drinking from straws. Into my childhood the winging of the scapula became apparent and caused issues such as throwing a ball or any object correctly. In my late childhood I started getting mild issues with what we now know was foot drop. I remember playing tennis in the summer, tripping and feeling like I just couldn’t move quick enough to get the other side of the court.

“The upper body was the most significant and obvious signs something was not quite right. I never had the strength you would expect a child to have. I hated monkey bars at the park, and could never go them. However, because I experienced very little pain there never was a real reason for alarm within the family. I reached out for help just before I started high school.

“I think children pick up more than the adults, and as I began to get left behind being picked for sports, laughed at in the changing rooms for my winged scapula while getting changed for PE, and my obvious facial weakness, I did see a doctor at the Royal Hospital for Sick Children. However, as I mentioned, I was only able to highlight my face and the scapula. It was suspected at that time I had a form of Bell’s palsy. I do not recall there being any mention of a muscular issue, let alone dystrophy.

“I wasn’t diagnosed until my 20s, after a referral to the neurology department in Edinburgh. This diagnosis came once my walking had got to the point of real difficulty: tripping on stairs, finding the hills in the city where I lived even more difficult and exhausting. And my running ability had ceased. I was constantly exhausted and had constant chest infections and an overall really unwell feeling.  All these symptoms are progressing as time goes on. I now benefit from having a stick or other support when out most of the time, and my endurance is extremely poor. But my determination is not.

“When I heard about Healx and Muscular Dystrophy UK joining forces, I was really excited. This could be a huge benefit and help to find drugs that match the ailments of this condition to bring a treatment for those living with FSHD. If you struggle daily it is so important to have safe relief to continue to live with all the other factors that come with such a condition, and one that continues to progress.

“Healx has a successful platform, and I believe artificial intelligence holds massive potential and advantage when a condition has a wide variable on those that have a diagnosis. By entering a partnership with Healx right here in the UK, this brings a much-needed expansion in supporting people like me. It’s great to see them pulling together the research findings and look to halt FSHD once and for all in its tracks.

“I am delighted and full of enthusiasm that Muscular Dystrophy UK is expanding its support while continuing to advance research and knowledge of this form of muscular dystrophy. In an age of fast-paced living and with all the technological advancements, it’s good that for once disability and illness is not being left behind.”