Jack and Edith run for SMS

Today, we’d like to introduce you to the inspiration behind our fundraiser: Sien.

Sien is 16 months old and the newest addition to our family. She is a happy, curious and adventurous little girl who discovers new things every day. She loves playing, cuddles, and all the attention she gets from her parents, family and friends.

Shortly after she was born, her parents learned that Sien has Smith-Magenis syndrome (SMS), a rare genetic syndrome. Like many people, we had never heard of it before. It is very rare: on average, only around eight children are born with the syndrome in the Netherlands each year. A diagnosis like this brings many questions. What will it mean for her development? What kind of support will she need? And what will her future look like?

It also means that finding the right care and support early on is very important, so that Sien has every opportunity to thrive. That is something you want for every child, of course, but SMS brings additional challenges. Knowing what she may encounter as she grows up helps everyone around her provide the support she needs. Thanks to specialised care and the knowledge of experts, Sien and her parents receive guidance tailored to her individual needs.

Knowing that some things may not come quite as easily to Sien also makes us extra proud when she reaches a new milestone. When she suddenly rolls across the room or sits upright without support, we can barely contain our pride. Proud of Sien, but also of her mum and dad — growing up really is a team effort!

There is still so much to learn about rare genetic syndromes, and continued research and knowledge sharing are essential.

With your support, by running the Larnaca Half Marathon we are helping to contribute to scientific research, the sharing of knowledge, and better care for people with genetic syndromes.

Every donation helps.

On behalf of Sien and our entire family: thank you for your support and for being part of this with us.

When our beloved Sien was diagnosed with Smith-Magenis syndrome (SMS) and we started trying to understand exactly what that meant, we discovered just how little is known about this rare genetic condition. Not only among the general public, but sometimes within healthcare as well.

We learned about the Centre of Expertise for Genetic Syndromes and came to understand just how important a centre like this can be for children with a genetic syndrome and their parents. Of course, every parent wants the very best for their child. But when a syndrome brings additional challenges and things to look out for, it is reassuring to have access to the knowledge and experience that specialists have gathered over the years.

With our sponsored run, we want not only to raise money for research and better support, but also to raise awareness of SMS. Because greater knowledge leads to better understanding, better care, and more opportunities for both children and adults with Smith-Magenis syndrome.

The infographic accompanying this update gives a brief introduction to SMS and some of the challenges — but also some of the special characteristics — that can be associated with it.

You can find more information about the characteristics of SMS on Wikipedia, among other sources. It describes many of the possible challenges and areas that may require extra attention, but one of the most important things to keep in mind is that every person with SMS is unique and may have their own combination of these characteristics.

There is one characteristic, however, that we can already confirm: babies with SMS are often incredibly sweet babies.

The Centre of Expertise for Genetic Syndromes at ’s Heeren Loo supports people with genetic syndromes, their families and loved ones, as well as healthcare professionals. By gathering knowledge, encouraging research and sharing expertise, they contribute to better care and greater understanding of people with rare genetic syndromes.

For families like Sien’s, having access to this support can make a real difference. And for grandparents and the rest of the family, it is reassuring to know that this support is there too. Of course, we want to help Sien and her mum and dad in every way we can, but a genetic syndrome, with all the additional concerns and things to consider, is something we have no experience with. That is why we are very grateful that a centre like this exists.

Take a look at the infographic in this update or visit their website to learn more about how the Centre of Expertise works every day towards a better future for people with genetic syndromes, including Smith-Magenis syndrome.

Today, we’d like to introduce ourselves — for those of you who don’t already know us, of course. We are Jack and Edith, brother and sister, both born and raised in Groningen, where Jack still lives today.

For Edith, Groningen soon became a little too small, and she set off to explore the world at an early age. She met Mark in England, they got married, and together they travelled the world. Over the years, they lived in various places across Europe, the Middle East and Asia. They both love experiencing different cultures, good food and, preferably, a nice climate, which eventually brought them to Cyprus, where they now live with their dog Bentley. Enjoying the outdoors, Edith likes running and has recently completed several 10K runs in Larnaca and Limassol. This will be her first half marathon, so if she manages to cross that finish line, it will automatically be a personal best!

Jack, meanwhile, has always stayed in Groningen (“so far,” as he has been saying for the past 40 years). He married Gea and together they had two sons. Now that the boys have left home, it’s just the two of them in Groningen, together with their cat Domino. Jack works as a software developer in IT and likes a bit of variety in his work, having worked for quite a few different organisations over the years. For part of his career, he worked as a consultant, which involved spending a lot of time travelling by car. Looking for a way to get some exercise as well, he decided to take up running. Since then, he has completed several half marathons and two full marathons. His peak performance days may be behind him by now, though, and he too is having to work hard to get himself ready for another half marathon.

Having children is already life-changing, of course, and when those children have a little one of their own, it adds a whole new dimension. You want nothing but the very best for that little child, while at the same time feeling incredibly proud of the brand-new mum and dad. So when Sien was diagnosed with SMS shortly after she was born, it came as quite a shock to all of us. And because you don’t have much direct influence on day-to-day life, it feels good to be able to do something practical every now and then. That is why we are running the Larnaca Half Marathon: to raise awareness of SMS and support research into the syndrome.

Thank you so much for supporting us!