It’s official: I have Ehlers-Danlos Syndrome.
Tuesday morning I had my appointment with the clinical geneticist at UMC St Radboud in Nijmegen.
Although usually a trip to the Radboud only takes us about 30 minutes, it now took us over one hour and a half, because we had to travel during rush hour. Of course, we left home in plenty of time (or so we thought) because we knew we’d likely get stuck in a traffic jam, but it was worse than we thought, which did nothing to steady my nerves.
Thankfully we arrived only a few minutes late, and the receptionist said not to worry about it, as lots of people had been held up in traffic that morning.
I didn’t have to wait long for the geneticist (in training) to call me into her office. There I got to tell my whole medical story again. Thankfully, my thoughts on the subject were much clearer now than a couple of months ago when I went to see the rheumatologist and had never even heard of EDS before, so I sort of knew what was important to say. I also knew now that a lot of the things I always thought were perfectly normal, aren’t really normal at all.
The physical examination wasn’t too bad (I really do not like people touching me, so any physical is always stressful to me) and since I knew I only get a 4/9 Beighton score anymore, I told her I used to get 9/9 when I was younger. I have been around on this planet for half a century, after all, and am not nearly as bendy as I used to be.
When all was said and done, she told me she thought I didn’t meet the criteria for EDS, as I only got 4 points on the Beighton scale, and I was suffering from hypermobility syndrome instead. However, as she wasn’t allowed to make a diagnosis on her own she was going to get her supervisor to confirm her diagnosis.
While she was away to fetch the medical geneticist, I sat there thinking, “No, this isn’t happening to me. This isn’t right, and I’ll go to London and get me diagnosed by Dr Grahame and his team if I have to, but I’m not buying this.”
In came the supervisor, and basically, he did just one thing. He pinched the skin of my posterior forearm between his thumb and index finger and pulled it. Then he said I did in fact meet the criteria for EDS hypermobility type. The fact that I only got 4 points on the Beighton scale now (but 9 before) was already a pretty good indication, but what he looked for specifically, was skin involvement. He said my skin was definitely stretchier than he’d expect from someone my age, so that settled it.
I am so relieved. Now I can finally get adequate treatment, and it will be so much easier to have my daughters diagnosed, and get them proper treatment too.