Rare Disease Day: Son2 has Ehlers Danlos Syndrome

facebook-profileTania writes:

As you will know if you are a regular reader, Son2 has Asperger Syndrome. He also has ADD (no H in there, he doesn't move much!)

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...

son2eds2Son2 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. Of course we knew nothing, then, of what was to come in the years ahead with both sons' Asperger's.

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 Son2 had, so I decided to do some more research and follow it up with my doctor.

My research revealed that EDS has 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.

RareConnectAs my work involves a forum run by RareConnect, and I knew they had an EDS forum, I contacted a colleague there, who helpfully gave me some numbers and links for EDS information.

As a result, I called up Lara from EDS Support UK who gave me the name of a specialist. I went to my GP for a referral, worried she might think I was an over-protective mother. Luckily, she knows me and trusted my instincts. 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.

edsSon2  already had OT at school and now also has a physiotherapist, we have had a special programme designed for him at our gym (he is 13) and he is waiting to see another specialist paediatrician regarding a further potential issue that Professor Grahame noticed.

We saw the Prof. privately for speed, although he also sees patients on the NHS. All Son2's other treatments are NHS and so we are on a waiting list.  For the physio, the letter instructed us to wait six weeks from the date of the letter before we could ring up for an appointment!

The EDS RareConnect forum that I mentioned, which is run by EURORDIS, the European Rare Diseases Organisation, has lots of information, research articles and the chance to connect with others. It's also multi-lingual.

If anything I have described here rings a bell, do check out the links in the article to find out more. It's quite amazing to me that because of work I was doing to help others, I ended up discovering something about my own son that will make his life better (even potentially longer) and my great thanks go to Rob Pleticha at RareConnect and Lara Bloom at EDS UK for helping me on my way.

Rare Disease Day is on February 28th. You can find the Facebook page here

If your child has been diagnosed with a rare condition, the National Children's Bureau has an information support sheet. You can download it as a PDF here

Tania Tirraoro
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Tania Tirraoro

Founder, CEO at Special Needs Jungle
Founder of Special Needs Jungle. Parent of two sons with Asperger Syndrome.
Journalist & author of two novels and a guide to SEN statementing. PR & social media expert. Rare Disease & chronic pain patient advocate.
Tania Tirraoro
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4 Comments

  1. Christina Cramsie

    Thank you so much for this information. I have a son with Aspergers, and also a daughter with a rare genetic condition called Floating Harbor Syndrome. She didn’t get diagnosed until the age of 3 1/2, although we were told she had failiure to thrive from age 9 mths. The only reason she eventually got a diagnosis was because we went to a private paediatrician who refered us to a hospital in Manchester to see a genetic specialist.They did some tests over the space of a year, and the diagnosis was sent in a letter, which I felt could have been given in a better way, I was on my own at the time and had no one to ask questions about it. The paediatrician at our local hospital thought she wasn’t being fed properly, and didnt refer us anywhere although we had been under his care for 1 1/2 yrs and my daughter wasn’t growing. My daughter is 10 now andthings are a lot better for finding out information as we have the internet, and there are groups on Facebook. The support sheet is especially useful, thanks again.

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