Living with a rare disease, it's not often I meet a fellow sufferer, so I was excited when a Gaucher patient found me through the Internet. We began to correspond and apart from the obvious connection of living with a rare disorder, Emma and I quickly discovered we shared much in common. From the very start, we found that pink roses bore significance to us both. When Emma was born, she and her mother were surrounded by pink roses in the hospital. This personal story spoke to me, for my husband bought a basket of pink roses when I gave birth to our daughter in hospital. With much in common, the most obvious Emma and I being both proactive strong advocates for Gaucher disease, our rosy Internet friendship began.
Emma who is younger than me, is fortunate to have started the Gaucher intravenous medication (Enzyme Replacement Therapy) in her teens, before most irreversible damage could occur. I began treatment at a later age, when I was 28 years old and unfortunately bone problems had by this time well set in. Emma and I are a perfect example of two female patients, showing the difference ERT makes if administered from a young age as opposed to later in life.
After about a year, we were fortunate to have the opportunity to finally meet face to face. Those few days together cemented what was to become a firm friendship. Little did I know this inspirational young woman, would become a cherished friend. You may ask what makes Emma Rooney inspirational, and that is easy to answer.
There can't be too many Gaucher patients who are physically able and willing to run a marathon. It takes great dedication and determination to prepare for and undertake such an event. I am not able to run, but Emma in a sense ran on my behalf, by carrying with her pink rose petals from my garden, which she tucked inside her running shoes.
Emma and her running buddy, Andrew Scholte recently took part in the Paris marathon on 12th April 2015. They ran as part of the "Running for Rare Diseases" team, the aim; to spread awareness of the importance of coming together to support rare diseases. The team wore race shirts with the NORD (National Organization for Rare Disorders) moto, "Alone we are rare, together we are strong."
Runners on the team were each partnered with a member of the rare disease community. This year the team included more than 100 runners, representing 58 different patient communities. All funds raised support the "Undiagnosed Diseases Program" through NORD and the NIH (National Institute of Health in the United States). This invaluable patient assistance programme supports patients who have exhausted all other avenues to seek a proper diagnosis.
Paris in spring time, what could be a more perfect beautiful city to host a marathon? There were an estimated 54,000 entrants, with a record number of 25% women. The route was incredibly scenic, capturing the heart of the city, as the runners started off from the Avenue des Champs-Élysée, taking in the Eiffel Tower and Notre-Dame. The route even included breath-taking green stretches passing a chateau, and followed the River Seine for a stretch.
Congratulations to Emma and Andrew on completing the 42.2 km marathon in 4 hours and 9 minutes, crossing the finish line together. For a Gaucher patient it is a great accomplishment and something to be very proud of. I may not be able to participate in a marathon but in Paris my rose petals ran like the wind!
