Thursday 28 February 2019

Why Rare Disease Day is important to me

Today is Rare Disease Day. This day is for everyone with rare medical issues to spread awareness of their various conditions, and to take pride in our differences. Ehlers-Danlos syndrome is a connective tissue disorder -we produce faulty collagen to be exact. Simply put the glue that holds our joints together over stretches and so our joints easily sublux and sometimes even fully dislocate. On the other end of the joint hypermobility spectrum is Hypermobility Spectrum Disorder. These complex conditions can effect so many parts of our bodies, but for many of us the main symptom is chronic pain. EDS has 13 subtypes, and while EDS itself is seen as a rare disorder, Hypermobility Ehlers-Danlos Syndrome (hEDS) is the least rare (and the most common) form. Because of this hEDS may be viewed as a rare condition, while others view it as simply "rarely diagnosed". It's also rarely known -by the general public and my medical professionals. Rare Disease Day reminds us to show the world our zebra stripes proudly; to stand up and be counted amongst a group of individuals who usually go unnoticed. 
Like many countries there is very little awareness around Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorder In Ireland. However we also fail patients here with lack of qualified rheumatologists and physiotherapists, and other specialists who are often needed to assist in our comorbid conditions. The HSE have 0 appointed consultants for EDS and HSD, with Simon Harris TD often stating that in fact all rheumatologists are qualified. This is an absolute insult to every patient in this country who has walked into an appointment after years on a waiting list to be told they have either never heard of the condition, don’t believe in it or simply do not know enough to diagnose it! A couple of private rheumatologists who have taken an interest in us is not satisfactory for the number of patients needing treatment.

Our apparent treatment centre, Harold’s Cross Hospice, regularly turn away EDS patients saying they do not in facts treat EDS like the HSE insists they do, and do not receive funding for us. A token patient here and there is not the solution to the growing number of children and adults who need rehabilitation, and even basic care.

The HSE have no idea of the number of patients with hypermobility conditions in Ireland, and have in the past cited laughable figures. There is also complete denial that EDS and HSD are multi-systemic conditions, even though this is the understanding worldwide. We are more than just bendy joints and dislocations.

The diagnostic criteria is not used here, the correct terminology is not implemented, and simply put we do not exist in Ireland according to the HSE.

Whole families are suffering in some cases, not everyone can afford to go privately all the time or indeed to travel to the UK. Early diagnosis and intervention is needed and we cannot obtain either without a real hypermobility clinic and qualified consultants.

Please sign our petition on the website and get involved if possible. We exist every day of the year and not just on Rare Disease Day, and we deserve real healthcare here at home-

The zebra is often used a symbol of rare disease, particularly for EDS. From the medical saying: "when you hear hoof beats think of horses, not zebras". Except sometimes the answers are less obvious -sometimes it's zebras 


I originally wrote this piece for the #EDS4IRE blog

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