I have to admit, my daughter, Star, has been a zebra longer than me. A medical zebra I mean, someone who suffers from a rare condition.
The problem with rare conditions is that Doctors tend to look past them and blame something else. They are looking for horses, not zebras. Star’s problems started when she was young and she would suffer pain in her knees. We had her checked out and they said she was hypermobile and would grow out of it. Hypermobile generally means bendy, or double jointed. There are certain stretchy tests that can be done to diagnose it, but it’s not rare, it’s very common.
It wasn’t until Star woke up one day with a wonky head that we started to get closer to the real reason for her pain. But even then, after a trip to A&E we were told she would just get better in a couple of days. Again, they were looking for horses. A couple of weeks later and several visits to A&E I finally got them to take me seriously when I told them she’d had an accident and fallen off her scooter. I lied and I’m not proud, but this simple lie opened up so many other doors to her that had otherwise been shut. For starters they gave her a scan. They had refused to do this before because you don’t get serious neck damage without a prior accident.
The scan showed that her discs at the top of her spine had dislocated and she was admitted to hospital. This was not going to right itself. In fact it took 18 months and five trips to theatre to put it right.
This was four years ago now and Star still has limited movement in her neck, and it’s still very slightly wonky. Eventually, I made the consultant believe me when I said that she hadn’t had an accident and this had happened by itself. He sent her to see a rheumatologist who suggested she had a connective tissue disorder, Elher’s Danlos Syndrome. This fitted in with her history of pain, her joints had been constantly subluxing, or moving out of place. Since then she has dislocated both her ankles and her wrist. She still gets knee pain and can’t walk far without being in pain.
We are currently under a geneticist who is trying to determine which type of Elhers Danlos Syndrome she has. She still doesn’t fit in neatly. She doesn’t quite have the flexibility of type I, and she doesn’t have definite features of many of the other’s. It was considered that she may have Marfan’s Syndrome as her limbs and digits are unusually long. She was even tested for Loey Dietz syndrome but that came back negative. At present she is having regular check ups with her consultant and also regular checks on her heart and eyes as these can be affected. We are hoping that maybe one day we’ll have a definite diagnosis, but for now we are just happy that we are finally being taken seriously with her health and she is getting the check-ups that she needs.
Rare Disease Day 2018
February 28th is Rare Disease Day, an international event where those with rare conditions are shouting out so that Doctors will realise that we don’t all fit in the same mould. As well as education, more research needs to be done to help people get the treatment they require. Many people with rare conditions can go undiagnosed or improperly diagnosed for many years. There is still so much to learn and that can only be done when we stop looking for horses and accept that sometimes there are zebras too.
You can read my story here.