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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Rare Disease Day Ireland 28th Feb 2015

IDA FB HeaderRareDDayIf you would like to submit your story, an image or anything you like to raise awareness for Saturday’s Rare Disease Day please email irishpotsies@gmail.com and I will run it on the Facebook page and blog, it can be anonymous if you prefer.

I left all of this a bit late but will attempt to do a blog update highlighting the shortfalls in the Irish Health System relating to the treatment of rare diseases and I hope to do a video.

I have been feeling pretty rough lately so I will do my best 😉

Irish Dysautonomia Awareness Youtube Channel Update

The latest update over on the Irish Dysautonomia Awareness Youtube Channel, I hope you enjoy! Please share and subscribe, thank you 🙂

 

This time I ended up in the ICU!

It has been a crazy month, to say the least! A lot has happened, so this is going to be a long one, bear with me, I do these posts to refresh my own memory of everything that goes on too. There is a ‘too long didnt read” at the bottom of this for those of you who don’t want the nitty gritty, This post will include pictures and a short video clip of one of my seizures, so lets go…

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Just after I woke up in resus!!

Once again, on the 15th of July, I ended up having a Nurocardiogenic syncope at home followed by a prolonged seizure that required me to be sedated, intubated and rushed to Accident and Emergency via ambulance.

I was in resus until my breathing and everything was stable enough for me to be admitted, where then I waited on a trolly in A&E for 34 hours before being given a bed on a ward. 36 hours is the cut off point where a patient HAS to be given a bed, where I presume legal action can be pursued after this point, I don’t know to be honest.

After being admitted into the ER, waiting for a ward bed.

After being admitted into the ER, waiting for a ward bed.

It was 3am in the morning, I had been waiting around drunkards and violent drugged up assholes who had nothing better to be doing than shouting abuse and pulling off their bloody bandages where I could see where they had split their own heads open by falling backwards onto a kerb, probably falling only over their own feet or after starting some fight over something trivial. Either way I was finally given a bed on a ward, in a single room for the night where I really needed to catch up on some much needed sleep!

The following morning I was moved into a 4 bed ward nextdoor where it was quiet, lovely and peaceful, unlike the usual geriatric ward I normally end up on when I go into hospital. Here I caught up on sleep got a little better over a few days, then had another few seizures. Everytime I got medicated for the seizures they seemed to get worse, to the point where one day I had a seizure that made me end up in the HDU (High Dependency Unit)

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Epileptic Seizures are usually treated with drugs called Benzodiazepine’s or Benzos for short. Given in high doses they can cause respiratory depression and can stop breathing to a point where you may need to be ventilated. This happened to me and that’s why I ended up in the HDU so that I could be watched closely by nurses more ready and able to treat me faster than those on the ward. I was only there for a few days until a bed became available on another ward. The geriatric ward I hated so much!

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So, down I went, into the geriatric ward. I was so out of my mind on all sorts of sedative drugs, I don’t know how long I was on that ward before I had another seizure, this time a really serious one. Luckily as it happened, the head Neurologist happened to be in the ward at the time speaking with another patient so he came over and saw the whole thing happen. Over the course of 2 hours and 40 minutes I continued to seize and as usual they treated me with a huge amount of Benzos to try and stop it, but as usual, I seemed to resist, things became worse and I had to have my airway ventilated to the point where they decided to move me to the ICU (Intensive Care Unit) as the seizure was so severe and I wasn’t coming around from it and they thought I may need to be ventilated for a further period of time or may need to be given even more serious drugs to help me wake up.

My Husband had been called in as this had obviously gotten serious, he had been called in a few times at this point because of prolonged seizures but even he was surprised to hear about me going to ICU. Keith has been amazingly supportive throughout and is always by my side for everything, I can never thank him enough for his love and support. He called my mum and they both rushed in to be with me.

Thankfully though, I did eventually come around on my own, stoned and confused, I thought I had woken on the Starship Enterprise or something, ICU, I have to say, from a Techy point of view, looked totally cool!!

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I hadn’t a clue where I was, I tried to lift my head to get a better view of my surroundings but the room spun, all I could see was, there was glass everywhere, amazing looking machines and monitors, all connected to the ceiling, giant robotic looking arms and tables with instruments beeping and clicking, where the hell was I? I almost immediately fell back into a sleep of utter stupor from the drugs they had filled me with until I heard a ladies voice…

“Hey you, welcome back to us, we got worried about you there for a while… You are in the ICU, my name is Dr. …”

The ICU?!! being told that even in a drugged up state was quite a bit to take in, she explained what had happened and that they were going to keep me there until they were confident that I was safe enough to be returned to the HDU (High Dependency Unit)

Keith and mum arrived in and it was nice to be awake for them, even if I was still stoned out of my noggin, I slowly came around properly and thankfully there was nothing cognitively impaired from what we could all tell. My heart rate dropped so low at times it set the monitors off a few times but my stats got eventually better, I was allowed to eat a little and have a wash before being returned to the HDU.

In the HDU, I didn’t recover very quickly, I was feeling terrible, slept a lot and refused to eat for a few days as I was so nauseous which in turn made my symptoms worse, my blood sugar dropped very low to the point where my nurse begged me to eat and drink something. I tried and things slowly improved.

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While in the HDU I had to endure feeling sad about having to miss the benefit gig, but I got a massive surprise one day when Keith arrived into me at visiting hours and said, “Someone is here to see you” … when they popped their head around the curtain it took me a minute to register as it was such a surprise, a dear friend came to visit me, all the way from America, just for one night to be at the benefit gig, she is a pilot so she has the freedom to jump a plane where she can and hitch a ride wherever, I couldn’t believe it, we embraced eachother, it was so cool, what an incredible gesture, one I don’t even know where to begin on how to thank her!!

I was in the HDU for 5 days and because the Neurologist on the ward originally saw the bad seizure, he fast tracked a bed for me in Beaumont Hospitals, EMU (Epilepsy Monitoring Unit) in Dublin, for an investigative Video EEG to find out are these seizures Epileptic with electrical activity in the brain or not and caused by something else.

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I was transferred to Beaumont via ambulance where I stayed for 3 days under constant monitoring, 2 cameras, a ton of electrodes glued to my head and 2 seizures later I was seen by their Neurologist.

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The seizures showed no sign of electrical activity in the brain at all so I was delighted to hear that he was confident enough to say I didn’t have Epilepsy, excellent, so, what was causing my seizures?

He said it was one of 3 things, 1 or 3 being the most likely:

1: They could be a symptom of the POTS or EDS, like Dysautonomic Seizures, but as that was not his field, he was unqualified to say and it would be best to speak to Prof. Grahame, whom I will be meeting in 10 days time in London.

2: It was purely psychological, which he wasn’t willing to believe as the seizures were very real and I was most certainly unresponsive with erratic stats during those episodes and have no evidence of past traumas or psychological problems.

3: Which he said was the most likely cause, was that the first seizure I had back in May that started all this may have been a complete once off and that the drugs and Benzos they treated me with and prescribed me with actually exacerbated all my symptoms, didn’t suit me at all and made everything far worse, so he was immediately going to cease all antiepileptics I was on. Which was outstanding news because since May all I have been doing on the new drugs was sleeping and not progressing at all.

Once that was settled, he wrote up his observations for my team of Limerick doctors and on the 3rd day I was returned back down to Limerick via ambulance and was put back into the geriatric ward where it was quite literally like a crazy house in comparison to Beaumont where everything seemed to run so smoothly by comparison!

A night goes by on the ward, old people moaning, crying out, the smell of poop and vomit… I needed out and fast, but I did notice one thing. Other than tremoring a little from coming down off the amount of Benzos they gave me, I hadn’t had a single seizure since they took me off the antiepileptics!! That was 3 days seizure free! I was feeling a little brighter and not a sniff of a seizure type headache, I was delighted and as it was the Friday prior to the long August weekend, I felt I didn’t need to be sitting, wasting a bed on the ward until the following Tuesday and I was eager to get home to Keith and the pup, it had been nearly 3 weeks in at this stage.

My medical team came to see me, asked me about how Dublin went, go through my charts, recognize that I am to be removed completely from all antiepileptics and if I am to have another seizure I am not to be given Benzos as they simply make matters worse. They will monitor my progress off the drugs until they see me next time and see how I do.

As part of their diagnostics and to rule absolutely everything out they want me to speak to a Neuropsych anyway just cover all angles, which I have no problem doing, we are all pretty confident I am sound, it is just another diagnostic. They completely recognize the fact that it could have been a once off dysautonomic seizure that was treated with medication that didn’t suit me.

Considering I have been out of hospital 15 days now and not a single seizure in sight, I am pretty delighted that is most likely the case. I am brighter, healthier, need less naps and have less symptoms in general since coming off the antiepileptics, that in itself is a wonderful outcome.

All that is left to do now is meet Prof. Grahame in 10 days time in London and hopefully he may be able to shed even more light on my prognosis.

Too Long Didn’t Read?
Had severe seizures, ended up back in hospital, longest seizure 2 hours 40mins which landed me in the ICU, was transferred to Dublin for tests which confirmed I didn’t have Epilepsy, turns out the first seizure may have been a once off dysautonomic seizure and it was the antiepileptic drugs they had me on that made matters worse, off them now and not a seizure since, WOO!!! 10 days till my trip to London to see Prof. Rodney Grahame.

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Quiz Nite in Aid of The Fund

Please click on the poster for more information.

Please click on the poster for more information.

 You can support Lette directly Here! Thank you 🙂

MRI, Pain Injections and London Update

Lette in the 1.5 Tesla MRI

Lette in the 1.5 Tesla MRI

Hi folks,

Just a quick update to let you all know that due to a hormone level increase in one area and some bizarre symptoms, the doctors had been worried about a pituitary adenoma in the brain. An MRI, paid for by the fund has been completed to rule out the possible Pituitary adenoma, and I am delighted to say, other than obvious signs of a history of bad ear trouble in my mastoid bones, it came out all clear. Thank you once again for your support, this test goes towards one of the tests I needed to have completed for my first trip to London in August 🙂

The first appointment with Prof. Rodney Graham at the Hypermobility unit in The Hospital of St. John and St. Elizabeth has been booked for the 26th of August and flights and accommodation have been purchased, again with thanks and help from the Go Fund Me fund, so I am all ready for the first trip over and I am looking forward to it now. I hope he can shed some light on things and my health can start to improve if at all possible.

Another treatment I have had in the mean time, this one just through the medical card, was steroid injections into my sacroiliac joint and right hip in Croom Hospital under Prof. Harmon. They hurt, I wont lie, but I have to say, after a few days of initial soreness from the injection sights, I have found an improvement in the pain. I hope with a continuation of these pain killing injections and the trip to London it may start me in the right direction to get my ass out of this wheelchair, but I won’t jump the gun just yet. The best things happen slow and steady.

All I can do for now is continue to hope and do my daily physio! 🙂

Thank you once again to everyone who has contributed and helped with the Go Fund Me campaign, I am overwhelmed with the level of support I have received so far. I cant thank you all enough.

Thanks also to Mark Griffin and Richard Lynch or organising a benefit Quiz night in Dolans Limerick on Thursday the 24th of July at 8pm, all welcome and all information on this event may be found HERE.

 

Lette’s Medical Treatment Fund

Hey all, I have decided to bite the bullet and go for treatment abroad in London, there is just no way I am getting all the care I need here in Ireland. If you can spare anything, even just a few minutes to share this link, I would greatly appreciate it, Please click on the image below to donate or find out more. Thank you ❤

At the age of 28, Lette was diagnosed with POTS and NCS (with Respiratory Arrest). In the past 3 years she was also diagnosed with EDS, and a Seizure Disorder.

In 2013 Lette’s hips failed. She now uses a wheelchair. In May 2014 after a syncope and respiratory arrest, where she needed rescue-breathing for 17 minutes, she started to experience recurring seizures. The health system’s slow pace means Lette must wait months to begin investigations to rule out a brain adenoma.

We decided to ask for your help because, over the past 3 years Lette’s health has deteriorated. These conditions are very rare, and treatment is complicated by a lack of understanding by healthcare professionals. Specialist treatment is simply unavailable in Ireland.

Your assistance will allow Lette to travel for initial, and follow-up sessions with 3 specialist consultants in London. It will provide for diagnostic and clinical examinations, treatments, scans, and associated expenses to discover a course of treatment for her condition, allow her to promptly rule out any high-risk complications, and most importantly to hopefully improve her quality of life.

We deeply appreciate any contribution that you can make, or awareness you can spread, to help Lette get access to the treatment that she needs.

Thank you.