5 Top Tips for Doctors and Therapists Working With Children With Rare Conditions
Zebras do exist
Doctors are taught “When you hear the sound of hooves, think horses, not zebras.” In medicine, the term “zebra” is used in reference to a rare disease or condition. Doctors are taught to assume that the simplest explanation is usually correct to avoid patients being misdiagnosed with rare illnesses. Doctors learn to expect common conditions.
But many medical professionals seem to forget that “zebras” DO exist and so getting a diagnosis and treatment can be more difficult for sufferers of rare conditions. Ehlers-Danlos Syndrome is considered a rare condition and so EDS sufferers are known as medical zebras. This identity has now been adopted across the world through social media to help bring our community together. Charcot Marie Tooth disease and Postural Orthostatic Tachycardia Syndrome (a type of autonomic dysfunction) are also on the list of rare diseases. With all three in our family to some extent we think of ourselves more as a weird cross species of the zebra, the ‘zonkey’ which is actually a zebra crossed with a donkey and even rarer than a zebra. Or a ‘Wonkey Donkey’ as my children call it. All the time just longing to be a horse!
So what do I want the professionals to know when they are dealing with my zebras, and why is it important to me…
Top 5 bits of advice
I did a quick poll of the EDS and CMT communities on social media and asked if they had the opportunity to be talking to a group of professionals what would be the one thing that they would say, that little nugget of information that would make the difference in their children’s care. As I read through the responses I realised that everything that had been raised had relevance to my life and my children.
Here are unequivocal top 5, in reverse order.
#5 We are already ‘rare’ don’t discount us having another rare condition
This came from the community but is so true with three ‘rare’ conditions in our family alone . Do not discount the fact that there could be other things going on.
My diagnosis took a long time. The first diagnosis for CMT took 26 years, I have always had symptoms to some extent, my feet have even shrunk two and a half sizes due to the neuropathy in my teens. After I was diagnosed with CMT 10 years ago no one bothered looking anymore and the lack of understanding regarding the condition just left Doctors saying, ‘oh that must be down to your CMT’, even though my symptoms were obviously not related to it at all. An EDS diagnosis actually came 26 years after my real definite symptoms started, a hospitalisation when I was unable to walk. I have also been told that I have autonomic dysfunction but an official diagnosis with testing in an autonomic unit is still a work in progress. Remember that just because we may not have managed to get a name for some of our symptoms it doesn’t take away the fact that we live with those symptoms daily.
#4 Pain is real
Don’t judge what you can’t see. It is even more important to appreciate this when dealing with children as describing pain can be tricky for them, it can even be hard for adults!
#3 Don’t assume something isn’t there because you cant see it or prove it
EDS doesn’t show on X Rays or scans. Before I was diagnosed with EDS I had a lot of pain in my hands, the pain would flare up for a week or at a time making it impossible to carry out simple tasks like holding a bottle to feed my baby or wash my hair.
Communication is key. It is really important that everyone involved in our children’s care communicates with each other. The therapists, doctors, schools all need to communicate with each other and with us as parents. I know this is tricky. Lots of busy people, thinking that there aren’t possibly enough hours in the day. Then take into account all the different personalities and it gets trickier still, please try hard because it makes such a difference for our children.
This was by far the top point made by both the EDS and CMT communities. Remember that we wait a long time for appointments and we haven’t got the time or energy to repeat it all with another doctor. So listen to what the patient or family want to gain form the consultation.
Please don’t assume that you know the answer to a question that you have asked before you have heard that answer. We are all different and will have different experiences even within the same conditions.
It makes us partners in our children’s care. With them at the centre.
Why does it matter?
Why do we want to work with you so much… Because prevention is better than cure and with no cure for either CMT or EDS we have to work hard to prevent the worst symptoms and manage what’s going on. I often think about what would have changed for me if I was diagnosed at an earlier age I wonder what drives me to make it different for my children. Schooling, dislocations, deformity, pain management, autonomic dysfunction and career choice would have all improved. So if parents and medical professionals can work together to make this better for the next generation then it’s a job well done.