Stop the neglect sufferers make rare disease day appeal to hse

Stop The Neglect
Sufferers make ‘Rare Disease Day’ appeal to HSE

Rare Disease Day on February 28 is a global event designed to raise awareness of rare diseases.

Many groups are taking the opportunity to highlight inadequacies in the care of people with rare diseases in Ireland. One of these groups, Irish EDS and HMS, has called on the HSE to stop the neglect of thousands of people in Ireland with a rare condition called Ehlers Danlos Syndrome (EDS).

HMS, or Hypermobility Syndromes, is an umbrella term for group of potentially life-affecting medical conditions of hypermobility. One such condition, EDS, is a rare connective tissue disorder which occurs in approximately 1 in 5, 000 people. The condition can affect every system in the body, leading to a wide range of apparently unconnected symptoms, including joint pain and hypermobility, chronic fatigue, gastrointestinal issues and heart complications. Symptoms can vary from mild to life threatening.

Huge deficits in expertise and resources in this country mean that an increasing number of people with EDS are forced to go abroad for treatment. The majority of those have no option but to raise funds to cover the costs associated with accessing treatment abroad. In some cases, medical costs run into the tens of thousands.

Nearly 50% of patients surveyed by Irish EDS and HMS stated that financial considerations prevented them pursuing necessary treatment abroad.

The HSE Treatment Abroad Scheme provides funding for patients to access treatment abroad; however, EDS applicants are frequently refused as they are informed that appropriate care treatment can be accessed in Ireland.

The HSE launched the National Rare Disease Plan, based on EU Council Recommendation 2009/C 15/02, in July 2014. While the rare disease community welcomed this plan, we have yet to receive any concrete updates regarding progress towards implementation. The very existence of the National Rare Disease Plan is, in itself, an admission that current service provision is not of an acceptable standard.

Irish EDS and HMS appeal to the HSE to address the crisis for EDS sufferers in Ireland. A spokesperson said: “We need concerted efforts to educate the medical professionals in this country and also broader parameters in terms of eligibility for the Treatment Abroad Scheme for people with EDS in the absence of appropriate care and services here in Ireland. It is time to stop the neglect.

For more information on EDS, see www.irishedsandhms.ie and www.facebook.com/irishedsandhms

A PERSONAL STORY – KATIE MAHER
The story I am going to relate to you is true, I wish it wasn’t, but the fact is, if I function any day at 40%, it’s a great day for me physically.

I have had a condition called Ehlers Danlos Syndrome or EDS since I was a child, and the thing that maddened me the most is I was 23 when finally diagnosed because after years of being the lab rat for all the different grades and types of consultants to give their considered opinion on me.

This came as a great relief to me and my parents. I was human after all, not alien, and it was not a figment of my imagination as often I was left to feel that way by some of those professional people.

By the way, don’t think I am happy I have it. I am not, I am happy to know what it is at last, but I am heartbroken and fearful of what the future holds for me as there is no treatment, no silver bullet to cure, stabilise it, or even limit the grip it has on my body.

I am now 24, a young woman trying to cope with daily pain, soreness, and tiredness, no energy, the things that every other person of my age can do are a struggle for me. Some of the worst effects of EDS I will let you know about: my head it ready to burst most days all day, my limbs dislocate at the drop of a hat, my blood pressure jumps like a hen on a hot griddle, which leads my heart to start racing, and I have no immune system to fight any virus even a common cold.

How, in the end, EDS was discovered was when I was going to see a consultant to get my left knee stabilised as it was dislocating on and off. My right knee was done in Tullamore hospital some years before and was not a success.

My father came in with me to talk about the procedure with the consultant, and point out to him, as he did in Tullamore, that there was some conditions he wanted to highlight. He asked him to look closely at my skin, my muscle formation, the other knee, and the way it turned out, all of which he noted.

After listening to us he then looked at me, pulled at my skin and agreed that there was an underlining problem, which he would look into before any procedure would commence. On that day he had no idea what I had. He told us we had a window of two years to get the operation done, but he took on board what we talked about, and what he had seen and would look for some answers.

Some time after that he wrote to my GP and asked them to get me tested for EDS. It was the first time I heard of EDS. We looked it up and it sounded like what I had, as did many a thing before. It looked we were on our way to London as there was nobody in Ireland that dealt with this condition.

This was early 2013. As luck would have it (if you can marry the word luck with the condition), my sister Elaine found details online of a support group for EDS suffers in Ireland, and a clip of a consultant named Brian Mulcahy talking about EDS, and he had a clinic in Cork

We arranged an appointment with him, so on December 12, 2013 we drove to Cork, and he diagnosed that I had EDS type 3. Finally it had a name and I could curse it.

So, 20-plus years into a life sentence for me, no reprieve yet. Hopefully, with research, some day, someone will find a cure. There are people with EDS worse off than me, and some much better. It’s a pity that in Ireland it’s up to the sufferers to highlight, fight, for support systems.

By the way, this cost my parents a small fortune, as I still have no medical card or even GP card.

My name is Katie Maher I am dealing with what I have with the help of my great family and friends plus the people I have met in the support group.

I would like to wish all the people with any form of rare disease or condition the strength to fight it every day, with the hope that someone will find a breakthrough in treatment, so they may, like me, hope for a bearable life, free from everyday pain and have some sort of quality.

Thanks for reading this and if you know a man by the name of Leo Varadkar tell him I need my medical card please!