Ehlers-Danlos Syndrome Diagnosis
Written and published by TaniaLT,
“Last year, while researching information for the forthcoming Rare Disease Day for work, I came across a case study on the Rare Disease UK site about a young woman who had struggled with a group of different syndromes, including hypermobility, Raynaud’s Syndrome and POTS (Postural Orthostatic Tachycardia Syndrome).
It was a light bulb moment…
My younger son, Giorgio, 13, was born with an unstable ‘clicky’ hip that took a long time to heal and as a toddler, he had suffered with Reflex Anoxic Seizures, a frightening condition where shock or pain can cause the heart and breathing to suddenly stop. The sufferer then has a seizure-like episode, with eyes rolling, the skin going grey and then falling into unconsciousness.
In fact, as they are not breathing and their heart is not beating, they are clinically dead. After some seconds, thank God, adrenalin always kicks in, restarting their heart and breathing and they come round.
RAS is caused by an inappropriate response of the vagus nerve triggering a cardiac event. It is a rare heart arrhythmia. The brilliant charity that helps people with RAS and other blackout conditions is called STARS and I was involved with helping them for a long time.
Son2 would have these episodes up to three times a day, usually triggered by anxiety or frustration. By the time he started school, the attacks had diminished into ‘near misses’, where an attack would start but we were usually able to get him to a horizontal position to help minimise the effects and equalise his blood pressure.
It was, as you can imagine, a very distressing time, but as with everything we have encountered as parents, we made it through, just taking every day as it came.
As Son2 grew older, his Raynaud’s would cause his lips to turn blue when he got cold and he began to suffer from joint pain and dizziness. We did not connect the different problems he experienced into one larger whole – why would we, when they were so different? We were worried that his dizzy spells were signalling a return of the RAS, which, if it goes away in childhood, can recur at puberty.
But when I read the case study, everything fell into place. The young woman had eventually been diagnosed with Ehlers Danlos Syndrome. I was convinced this is what Giorgio had, so I decided to do some more research and follow it up with my doctor.
My research revealed that EDS had six different types of varying severity and the difficulties experienced within each sub-type can also affect people in different ways. EDS can cause multiple dislocations, joint pain, fatigue, easy bruising and stretchy, fragile skin among many other symptoms.
I called up Lara from EDS Support UK who gave me the name of a specialist. I went to my GP for a referral, However, although she was no expert in EDS, when I gave her the information I had and the name of the specialist, she was happy to refer us.
Soon after, we went to see Professor Rodney Grahame, who is a world expert in EDS in London. He carried out measurements and a physical examination of Son2 and listened closely to his medical history before agreeing that he did, indeed, have EDS Type III.
Giorgio already had OT at school (he goes to a special school for Asperger Syndrome) and he now also has a physiotherapist. We have had a special programme designed for him at our gym and he is waiting to see another specialist paediatrician regarding Incomplete Marfanoid Habitus.
After several months of illness with heart and pain symptoms myself, I have also just been referred to the same EDS specialist. I’ve had to cut back on work because of it and learn to pace myself, which is really frustrating, but at least I know what my son is going through.
Sometimes he lies on the bed in my arms, even though he is 13, and I am scared for him. He has already had so many challenges and now this. It is a comfort however, knowing there is support from EDS-UK and I plan to try to give support back to them too, however I can.”
It pays to be persistent and proactive while pursuing your diagnosis.
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