On February 28, the “Rare Diseases Run” starts for the second time – a virtual run in which everyone can take part, from marathon runners to wheelchair users. In addition to the sporting challenge, the aim of the run is to make rare diseases better known.
FOCUS online spoke to Verena Schmeder (41) from Syngap Elternhilfe e.V. The 41-year-old is the mother of a son with the genetic defect and launched the run with her club last year.
FOCUS online: As the first chairman of Syngap-Elternhilfe e.V. you set up the “Rare Diseases Run” last year. What’s behind it?
Verena Schmeder: It sounds as if I did it all by myself. But above all, there is a lot of work by our core team behind it. Our deputy chairman Marcos Mengual-Hinojosa and I put a lot of time, energy and passion into it. Because we are both parents of children with the same rare disease.
Let’s start with Jamie, my now nine-year-old son. He suffers from a rare disease, the “SYNGAP1 syndrome” (short: syngap), which is far too little known. Even in professional circles. Syngap is a genetic defect and affected children could develop much better if treated earlier. I’m sure that if Jamie had been given the right medication as a baby, he wouldn’t be in a wheelchair now, but could walk like Lucas (8), Marcos’ son. With an earlier diagnosis, both boys might even be able to talk like other children today.
Do you want to join in and support those affected by rare diseases? Then register here for the “Rare Diseases Run”. This is a virtual run – so you can join from anywhere. You have time for this from February 28 to March 5, 2023. School classes and companies can also take part together.
Am I getting this right: the doctors didn’t know what was going on with Jamie?
Schmeder: I kept saying something was wrong. My son makes such weird moves. His eyes wiggle. “Make a video,” said one doctor. But this is difficult with something that lasts only a few seconds and occurs suddenly. The symptoms finally got a name when Jamie was two and a half because I didn’t give up and we were able to take part in a genetic study thanks to the help of a support group. Jamie’s diagnosis came relatively early.
It is no coincidence that the majority of the almost 100 people affected in Germany are minors: there are worlds between the rudimentary knowledge of today and the almost complete ignorance of twenty or thirty years ago. Those affected fell through the cracks for a long time. The oldest diagnosed Syngap patient in Germany is 40 years old.
Is that an ulterior motive of the run? Do you want to achieve that rare diseases are diagnosed earlier?
Schmeder: Absolutely, that’s what we’re fighting for. We want to become more visible, all in all, all the patient organizations that take part in the run want that. Taken together, the so-called rare diseases are by the way not that rare.
Aren’t you benefiting a bit from the fact that society as a whole has become more open in dealing with the issue of disabilities?
Schmeder: There is this on the one hand and on the other hand in me. Coming from marketing, I know that companies like to give themselves a certain polish. That they deliberately show people in wheelchairs or with Down syndrome, for example, in order to have a good public image. Please don’t get me wrong: it’s important that something like this happens. And yet we are still far from good with this development. In many cases, people with disabilities are simply not taken into account enough.
Are you speaking from personal experience?
Schmeder: Yes, of course, and many other families feel the same way as we do. Have you ever traveled with a disabled child? There are hardly any playgrounds that are suitable for a child in a wheelchair. Do you know where you can change a diaper for an older child or an adult in a wheelchair on the go? When you have a child with an invisible disability that screams, scratches, and bites, people look at you with reproach. Like many Syngap sufferers, Jamie has epileptic seizures. But not in the way you know these seizures…
Schmeder: They are much shorter and look different. And what is special: Eating also triggers the seizures. I’ve long suspected that Jamie’s odd eye movements meant something. But I only realized what was behind it after the genetic diagnosis. The symptom of eating epilepsy was also completely new for the doctors in the epilepsy clinic. When we were in the clinic for an examination in 2017, I persuaded the doctors to do an EEG. During the meal. Jamie bit into the bun, rolling his eyes and tilting his head back.
The doctor found this extremely interesting and, with our help, published a scientific paper on it. Since then, more and more doctors around the world have come to know that they should test for Syngap1 for this particular symptom. In fact, Jamie, like many other so-called rare diseases, only has one letter changed in the genetic code. A little typo somewhere in the DNA.
But with sometimes dramatic consequences….
Schmeder: That’s right. Put simply, Syngap means that the brain produces less of the substance that calms down the synapses in healthy people after use. You remain overexcited. There’s a kind of constant fire in my head. This disturbs perception and slows down development. Syngap is a spectrum disease. Most affected people can walk. Jamie is on the bad end of the spectrum. After all, he is developing forward at his own pace and not backwards. By the way, running is good for him too. Jamie competes in the Rare Diseases Run in a wheelchair. He will drive a short stretch himself and be my co-driver for a longer stretch.
How did you come up with the idea of creating such an event?
Schmeder: We at Elternhilfe have heard about various runs over the social networks. There are hospice runs or sporting events in which top runners take part who donate a certain amount for every kilometer covered. I’ve always wondered how that works. You need sponsors for that. Our second chairman, Marcos, used to be a very active runner and knew his stuff. That’s it, we often thought, but we didn’t see each other at one of these runs either thematically or in terms of feasibility.
Keyword feasibility: where was the problem?
Schmeder: It starts with the fact that the runs are usually face-to-face events. You have to be there at a certain time on a certain day and walk a fixed route. Due to their health limitations, people with rare diseases are not always able to do this. And it was important to us that those affected can participate.
The Rare Diseases Run is now a so-called virtual run. What does that mean?
Schmeder: We worked out the concept with the organizer “Running makes you happy”. The team has experience with virtual runs for a good cause. There are online running packages for a small contribution, with a start number and a certificate that you can print out yourself. The run can be designed completely freely in the period from February 28th to March 5th, the only important thing is that the whole thing is documented via a running app. For the wheelchair driver, the 500 meters covered might be something like ten kilometers for a trained athlete. Jamie and I went hiking in the woods last year. We will do that again this year. Jamie needs the level for the wheelchair, I, who pushes it in parts, need the shade.
Why the latter?
Schmeder: I myself suffer from a rare disease with an unpronounceable name: erythropoietic protoporphyria. I’m extremely sensitive to light, and if there’s too much sun, my hands and face hurt like hell. I know what it’s like when you’re on the sidelines as a child and once again can’t participate. And nobody understands you. This is just terrible.
With you and Jamie there are already two rare diseases. How did you come up with the other 18 diseases?
Schmeder: In the 18 years since the association for my illness was founded, I have met many committed people from other associations such as Angelman, CDKL5, Fett-SOS, Pro Retina and Dup15q. When you go through the same thing, you quickly find yourself on the same page. It was clear: “They have to be there” and other partners were quickly found. The 2022 run with almost 2000 participants and over 19,000 euros in donations was absolutely amazing. We didn’t expect so much success. We had ten clubs on board, this time there will be twice as many. In addition to those affected, of course, above all relatives and friends of those affected will take part, people from the orbit of the rare I always say. But interest in the topic is growing.
Already in 2022 we had a number of people at the start who were driven solely by the charitable thought. Various company teams took part, a police team and a few fire stations were represented. Participation fees were supplemented by a number of voluntary donations. I’d be lying if I said the rare ones don’t need the cash injection, but ultimately that’s a side effect. As I said, the most important thing is more awareness. So that we can help as many people as possible and, in the best case scenario, the term “rare” will one day become superfluous.
The run starts on February 28th (Rare Disease Day) and runs until March 5th. It is run “virtually”, i.e. participation is documented via a running app and is possible on your personal favorite route, on vacation or wherever you like. The chosen distance can be between 500 meters and a marathon, it can be jogged, walked or rolled.
By the way, our columnist Mike Kleiß is also running. You can find out why the Rare Diseases Run will be his most important run in 2023 in: This is how it works. You can find out who the 20 clubs in the Rare Diseases Run are at rarediseasesrun.net and register yourself afterwards.