A MARATHON NOT A SPRINT: THE LONG ROAD LIVING WITH A RARE DISEASE

This Sunday, 3rd October, along with thousands of others, my husband Paul will run the London Marathon. He will be raising money for the Duchenne Family Support Group, an incredible charity run by families which does outstanding work supporting children with the very rare disease Duchenne muscular dystrophy and their families.

It is a cause incredibly close to our hearts because 12 years ago, just three short years after our beautiful baby boy Dominic made his arrival into the world - our second child and the completion of our family - our lives were changed forever when we noticed he wasn’t really reaching the same physical milestones our older daughter had at the same age or his friends currently were.

First, we noticed he was falling over a lot. Like all boys, Dominic loved jumping in every puddle he saw, but we noticed his jumps weren’t like his friends, his body not quite doing what it should.

Working in healthcare, I had come across Duchenne, a progressive and life-limiting genetic disease that causes muscle weakness and wasting, eventually affecting all the muscles in the body including the heart and lungs. I remember thinking what a terrible disease it was, so devastating and cruel.

Tests confirmed our worst fears - that Dominic had Duchenne. Since then, he, my husband, our daughter and I have lived every day with the terrible reality that our darling boy may not see much past his 20th birthday. That’s just four short years away.

But scientific research into rare diseases such as Duchenne is thankfully making progress all the time and the life expectancy of those affected has increased, with use of steroid treatment and careful cardiac and respiratory management. Adults with DMD are no longer an exception with some living into their 20s and 30s and, according to the charity Duchenne UK, a few are now living into their 40s and 50s.?

I cannot really put into words the hope that gives us for Dominic who has come so far already. Despite losing the ability to walk and needing a powered wheelchair to move around since the age of 10, he aced his GCSEs a year early, started at a mainstream sixth form college where he is studying Media, and is now living independently during the week with his classmates and carers.

IT TAKES A VILLAGE TO RAISE A CHILD

We have been so lucky to have built up an incredible support network around us. The proverb “It Takes a Village to Raise a Child” is particularly pertinent in our case. Our wider family, friends, the charities who have helped us and my work colleagues - they have become our village.

I have always been very open about being the mother of a child with a rare disease. In fact, the reason I moved to my current job as Head of Market Access at Sanofi UK was because of the company’s dedication to rare disease research through our speciality care global business unit, Sanofi Genzyme.

As one of the leading pharmaceutical companies dedicated to developing therapies for the treatment of rare diseases for over 40 years, my first-hand experience is invaluable and allows me to contribute to our rare disease commitment by providing leadership and insight into health technology appraisals for rare diseases and by supporting other employees in a similar situation. There is a company-wide understanding that to develop treatments for rare diseases you must know the difference you are making not just to the person with the rare disease but the entire family.

Looking after a child with a rare disease isn’t easy, and it certainly isn’t straightforward. But I know that when Dominic is home and has needed turning five times during the night that if I am shattered at work, that’s OK. I don’t have to explain that to anyone.

We have to take Dominic to lots of hospital appointments. But I don’t need to tell someone where I am going if I need to leave early or come in late. I am so incredibly grateful to work for a company with colleagues who value me and trust me absolutely to do my job with the flexibility that I need.

I am on the advisory board of Duchenne UK and lead a cross-industry, academia, and clinical collaboration in disease-level evidence generation in DMD. It’s no small undertaking, but again, Sanofi encourage, support and allow me the time and space to manage this commitment.

FINDING SUPPORT IN THE UNLIKELIEST OF PLACES

A culture of employee wellbeing is at the core of Sanofi and that includes flexible working practices which were introduced long before tackling the COVID-19 global pandemic demanded it of most companies.

This has enabled my family to function as it must, with me as the main breadwinner and Paul working part-time in a specialist bike shop near our home in south west London to better support Dominic.

It was there that Paul recently met and became good friends with Hollywood icon Harrison Ford who is currently filming in the UK after reprising his iconic role as Indiana Jones. He’s a keen cyclist and has been a regular customer in the shop and, after finding out about Dominic, has been a huge support. He offered to record a video to help Paul with his Marathon fundraising – a huge gesture and one which we are all incredibly grateful for. Paul will also be running dressed as Indiana Jones – so should be easy to spot!

Paul’s Marathon run on Sunday has many parallels to our life living with a child with a life-limiting rare disease. It has been a long and often arduous journey. But it has been a journey full of love, laughter, and determination, and with the wide and much-needed support surrounding us, I know we will continue to help give Dominic the life he deserves.

If you would like to join Harrison in his support of Paul, running the marathon dressed in full Indiana Jones attire, please find the link below