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5 Top Tips for Doctors and Therapists Working With Children With Rare Conditions

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I had the great privilege of being invited to my local Child Development Centre. I had one hour in a room with a range of professionals from students to speech and language therapists, physiotherapists, occupational therapists and paediatric consultants.  Not nearly enough time to say everything that I wanted to say!  This is the first of two posts highlighting a little of what I talked about.

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!

My daughter at four years old describes some of her pain as ‘normal hurt’ and some of her pain as ‘other hurt’ which only goes to show that she is accepting a level of pain as normal.  She often discounts this when answering questions about her pain either to me or other professionals.  Just because they are not moaning and groaning all the time doesn’t mean that the pain isn’t there it means that they have learnt to be happy despite the pain that they live with every day.

#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.

They found nothing on MRI’s or X Rays and no inflammatory markers in blood tests, in the end I just got on with it, it was another 4 years before an EDS diagnosis explained the chronic pain I lived with. This has been a common theme for me all of my life.
Be careful with what you say, please don’t ever accuse or even hint that a child is making it up or doing something to cause this, your words can be damaging.
On a recent visit to the GP (not our usual one) I was asked if my child was being bullied or exaggerating his symptoms, the doctor also implied that he may be copying what he has heard at home to get attention, all these questions were asked in the name of gaining a clearer picture of my child.  He even suggested that our home BP monitor may not be taking accurate results.  Since that visit it has been proven that his symptoms are caused by a combination of connective tissue disorder and autonomic dysfunction.  Remember that as parents we know our children best, and with genetic conditions one of the parents will be affected too, giving us a great understanding of what is going on and what it feels like.

#2 Communicate

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.

When communicating please be accurate.  The biggest problem is accurate clinic letters,  I get it, as Doctors you don’t see the children as often as the therapists, you don’t know them as well.  So you have to be much better at listening and recording accurate information in the first place.
Also Communicate effectively with the child, take the time to talk to them and explain things to them at their level, it makes such a difference when they are involved in their own care.

#1 Listen

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.

Our most recent clinic appointment was with a paediatric consultant, what she did fantastically well was both communicate and listen both with us as parents and with our son.  She spoke to him.  He left the consultation happy, understanding what was happening with his symptoms and why.  We made a plan together to make things better.

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.

So you see!  There’s no end to the things you might know, Depending how far beyond Zebra you go.” Dr Seuss
This post was picked up and published on The mighty Site you can check it out here and my other published posts.  Be Mighty!

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