Rare Disease Day – Irish Dysautonomia and Rare Disease Awareness

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Hi, I’m Lette and I have the rare diseases, Dysautonomia, EDS (Ehlers Danlos Syndrome), Pots (Postural Orthostatic Tachycardia Syndrome), NCS (Neurocardiogenic Syncope) and Gastroparesis.

What are these conditions?

Dysautonomia is the malfunction of the Autonomic Nervous System (ANS). The autonomic nervous system is a control system that acts largely unconsciously and regulates the heart rate, blood pressure, digestion, respiratory rate, pupillary response, temperature, urination, and sexual arousal. It is an umbrella term for various forms of ANS malfunction including Pots.

Pots or Orthostatic Intolerance is when you cant regulate your blood pressure and heart rate when you change from a supine or seated position to an upright position. For instance in my case, when I stand or at times sit up, my blood pressure plummets, heart rate increases, my blood pools in my legs and oxygen is reduced to my heart and brain and makes me presyncope if not completely faint a lot of the times. This Fainting is caused by NCS or also called Vasovagal Response/syncope. POTS is often accompanied by vasovagal syncope, with a 25% overlap being reported.[1]

Diagnosis usually requires a Tilt Table Test (TTT) and can show persistent increase in heart rate of at least 30 beats per minute (40 bpm if under 19 years of age) within ten minutes of standing.

Symptoms include:

NCS or Vasovagal Response/Syncope. From the wiki:
“There are different syncope syndromes which all fall under the umbrella of vasovagal syncope. The common element among these conditions is the central mechanism leading to loss of consciousness. The differences among them are in the factors that trigger this mechanism.”

Ehlers Danlos Syndrome Type 3 (Hypermobility Type) is a group of inherited disorders that affect your collagen which is in practically all elements of your body, skin, hair, nails, cartilage, bones, blood vessels, organs and eyes. As such this condition affects those structures in me causing broken bones, dislocations, subluxations, damage to joints, muscles, skin, organs, easy bruising, bleeding, severe pain, my eyes are affected and I am hard of hearing. I also have gastrointestinal issues including Gastroparesis. EDS also now has me in a wheelchair because of pain and instability in my pelvis, hips and lower legs.

Gastroparesis also called Delayed gastric emptying or Gut Dysmotility is when there may be partial paralysis of the stomach or intestines causing food to stay in the gut for an abnormally long period of time. This causes me chronic nausea, vomiting and at times severe pain.

There is no cure for any of these conditions, they can be managed with medication but flare ups are frequent and the conditions can progressively get worse over time even while being managed with meds.

My Diagnosis and first hand experience of treatment in Ireland

I was diagnosed with Pots in April 2011 after nearly a month in hospital and a ton of tests because of severe low blood pressure and constant fainting on sitting upright or standing. My first doctor after 2 weeks said to “Get out of bed and move around, you’ll be fine”, I was still fainting all over the place so needless to say we asked for a letter (being sure to put it in writing) stating that he as a doctor thought I was fit enough to be released. This letter never materialised and we asked for a second opinion.
The new doctors team did a serious amount of tests over the course of another 2 weeks or so and they found that I did infact have something wrong, an impressive case of a condition called Pots with NCS. I was started on a course of medication and told to research my new ailment and they would check on me with regular outpatient visits.

During this research I noticed that EDS was commonly associated with causing Pots and NCS and it explained a history of symptoms that I had experienced prior to all this. I approached my consultant about this when I next saw him and he was very dismissive. He agreed I had hypermobility but called it benign and that it wouldn’t need treatment, despite my symptoms.

Many hospital admissions later the dismissive nature continued and I quickly found out that there are no EDS Specialists in Ireland. There are no Dysautonomia Specialists either. The first step to seeing if I did have EDS was to meet with a Rheumatologist in Cork who had a special interest in Ehlers Danlos. This was October 2012 and after a consult with him, he had clinically diagnosed EDS Type 3 with possible overlaps of other EDS types, and recommended meeting with Prof. Rodney Graham in London who specialises in EDS and other Hypermobility Syndromes for a definitive diagnosis and treatment plan.

In and out of hospital a few more times, but start to feel well enough to start back to work in 2013, I absolutely loved it and still had good and bad days but could manage until the pots got worse again and the pain in my hips got so bad that I ended up in a wheelchair and was advised to stop working again within 6 months of starting.

A few more ambulance rides and hospital admissions later, my health was deteriorating and in May 2014 I started having seizures. The drugs I was put on turned out to make everything worse and I ended up in the ICU after having a 2hr 40min series of seizures. I was sent to Beaumont for tests and it turned out I didn’t seem to have epilepsy but that the first seizure may have been a once off due to the lack of oxygen to my brain after one of my faints and then the drugs they treated that seizure with, I ended up having a strange reaction to and they made the seizures worse. It took 3 months in and out of hospital to realize this and now that those drugs have stopped, I am delighted to say haven’t had a seizure since!

During these few months of being in and out of hospital with seizures, I set up a fund to help me get to London to see the Hypermobility specialist as there was no way I could afford to do this on my own. I got an amazing amount of support from family, friends and complete strangers of whom I cant thank enough! I got to meet Prof. Rodney Graham over in London in August 2014 and got a confirmed diagnosis of EDS Type 3. He wrote to all my doctors with the confirmed diagnosis and gave them advice of how my treatment should advance going forward. Advising that I return to London to get help with my Gastro and autonomic problems and referring me to Harolds Cross would be of great value to me. I am currently waiting for a referral for this since August 2014.

If proper systems were in place in this country, there would be no need to have to go to London for a basic diagnosis. But as there are no specialists or centers here and even a steady level of doubt among some doctors as to whether EDS is even a considerable diagnosis, even after being clinically diagnosed by a Rheumatologist. They didn’t seem to realize that there is no genetic test for EDS type 3, it can only be clinically diagnosed but they still doubted it from the rheumatologist in Cork. Once the letter came back from Rodney Graham on the diagnosis however, attitudes seemed to soften a little.

I was back into hospital in November and December 2014 with Gallbladder dysmotility and Gastroparesis. The level of care under this new surgical team of doctors was amazing and they were very willing to learn more about EDS and how it affects everything.

Today I take 18 tablets a day, need injections, pain management, physio, occupational therapy, have a full time carer (My amazing husband), I continue to faint and sometimes do so without breathing for long periods of time, I rely on a manual wheelchair but require a motorized chair, but I have been waiting for that for over a year now. Thankfully, though there are a few negatives through all these diagnosis, I have met phenomenal nurses and carers, amazing doctors and consultants willing to learn but the shortfalls are evident to any of us who are a patient or carer, we can clearly see that the health system needs a serious reform. So too do the social welfare systems, there are huge difficulties getting access to certain things which people are entitled to. The dietary supplement, Mobility allowance, mortgage interest supplement for example has been cut to new applicants, however those who are already getting these payments can continue to do so. The carers respite grant has been reduced and there are huge limits and difficulties in getting access to things like Housing Adaptation grants and the Drivers and Passengers with Disabilities Tax Relief Scheme. You can read more about that here.

Thankfully the Rare Disease Plan 2014 to 2018 Plans this major reform of the health service and the supports currently in place delivering better access to high quality service and care for both patients and their carers. You can read all about this proposed plan Here. However there has been no recent updates as to when it will be actively pursued and implemented while all of us currently with rare diseases have to wait in a system with no specialists, no treatment, no care. We have to travel to London when things like the Travel Abroad Scheme (TAS) is there within the HSE to send people abroad for treatment but it is not being offered or is being refused the majority of times to those who apply for it saying their care can be fulfilled here in Ireland when it can not!

In the meantime online communities like EDS Awareness Ireland and Irish EDS and HMS are pushing to appeal for awareness, support, recognition, specialist treatment and care and funding for our rare diseases.

We are Fainting goats, we are Zebras, we bend but we are not broken, we have invisible illnesses but there is always hope and the will to spread awareness of these conditions and difficulties. Lets make our voices heard.

Thank you for reading.
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Follow Irish Dysautonomia Awareness on Twitter, Facebook, Youtube & Spreadshirt and if you would like to support Lette to help her get back to London for proper treatment, you may find her Fund Here, Thank you.

 

 

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One thought on “Rare Disease Day – Irish Dysautonomia and Rare Disease Awareness

  1. Pingback: Sorry for the long Hiatus… | Lette Moloney

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