EDS sufferers call for more action during awareness month

The genetic disease affects one in 5,000 people

EDS, awareness, Ireland, HSE, genetic disease, collagen, Mags, Dublin, The Irish EDS and HMS Society

Image: Facebook/The Ehlers-Danlos Society

What is EDS? That is a question many sufferers face on a daily basis.

The disease affects one in 5,000 people.

May is EDS awareness month, and sees the launch of a nationwide initiative to promote awareness of the condition.

Ehlers Danlos Syndrome (EDS) - or Hypermobility Syndrome (HMS) – is a genetic defect which affects the connective tissue of suffers due to faulty amounts of collagen.

Collagen is a protein, which acts as a glue in the body - adding strength and elasticity to tissue.

However there is no specialist consultant on the disease in Ireland.

The Irish EDS and HMS support group say an increasing number of people with EDS are forced to travel abroad for treatment unavailable here.

The group says while there are individual speciality consultants here, what they need is a specialist consultant - with in-depth knowledge of the condition and who can assess and treat patients for the condition as a whole.

“As many individuals do not qualify for the HSE’s Treatment Abroad Scheme, they are left with no option but to raise funds themselves to cover the staggering costs, which often run into the tens of thousands of euros”, it says.

“As a result, many patients say that financial considerations prevent them pursuing necessary treatment abroad”.

One such woman is 32-year-old Mags from Dublin.

Because her EDS is complex, she has deteriorated rapidly and has had to seek expertise from the UK.

All of her trips have been self-funded.

This backward prayer pose demonstrates the hypermobility

Life-threatening condition

The most serious diagnosis to-date came last year, when she had an MRI of her neck and brain.

She was told she had Chiari Malformation (CM), Alanto Axial Instability (AAI) and Cranial Cervical Instability (CCI).

CM means the lower parts of her brain have been pushed downwards towards the spinal canal by 8mm.

This can be a very serious and, on occasion, life-threatening condition.

Mags has recently obtained an appointment with the worlds' leading EDS neurosurgeon for July in Maryland, US.

She has set up a GoFundMe page in the hopes of covering some of the funds for treatment.

In July 2014, the HSE launched its National Rare Disease Plan (RDP).

Following the consultation in late 2014, a business plan was compiled and submitted for consideration.

However, the group say it failed to receive funding in the 2016 allocation and “no firm commitments are being offered in relation to its implementation at any time in the near future”.

The group itself is fundraising to try and send a clinician to a US conference to hear the formal presentation of findings from a symposium on EDS.

The conference ran for five days in New York City during the first week of May.

“The primary goal of this is to reclassify the diagnostic criteria for all the types of Ehlers-Danlos syndrome. The symposium is also purposed with producing guidelines for medical professionals to use once a diagnosis has been reached as a universal guide for management”, it says.