Hey there, hi there, ho there!
As I’m writing this it’s Rare Disease Day. I have a rare disease called Hypermobile Ehlers Danlos Syndrome. This condition is believed to affect 1-5,000/10,000 people. Although, many experts now believe it may not be rare at all, just rarely diagnosed. The new diagnostic criteria (released on March 15) may lead to a more concrete number.
Anyway, so I said earlier on in the week that I would explain my absence from social media and why my blog was late and it just so happens to fit in nicely with Rare Disease Day.
Taken from the Journal.ie:
The National Rare Disease Plan for Ireland up until 2018 was launched in 2014 by the former Health Minister, James Reilly.
The key recommendations include creating both a Clinical Care Programme and a National Office for Rare Diseases.
The Minister said, “This is a very important plan because we have 8,000 different rare diseases in a small island like ours. It’s very difficult for patients to get a diagnosis and then indeed treatment.
So we had a young man here earlier who had his picture taken who is having is treatment in the UK at the moment for his rare condition.
Reilly explained how this plan has looked at “how to shorten that journey and reduce the frustrations that people experience trying to get a diagnosis, and then indeed organising the treatments.”
The former Health Minister said a designated Clinical Care Programme for rare diseases will improve specialist services and allow for the development of a joined up model of care for patients. While the National Rare Diseases Office will identify Centres of Expertise for various rare diseases, provide a helpline function for patients and families and provide surveillance of national rare diseases.
James Reilly added:
The significance of this plan cannot be overstated because it provides us with a roadmap for the prevention, diagnosis and treatment of rare diseases.
“I fully endorse this plan as the means to positively shape how we look after people with rare diseases in Ireland”.
So at present, there are 8,000 diseases affecting millions of Irish citizens. Although we might be genetically rare, together we are actually very common. 1 in 10 people in the UK have a rare disease.
So three years later has anything changed for rare disease patients? From what I can tell? No. Well at least nothing for anyone with my condition. We still have no Clinical Lead Consultant, no schemes to help us get Treatment Abroad. The current Treatment Abroad scheme only covers referrals to public consultants. All the experts in the Hypermobility Unit I attend are private. There is still a huge lack of awareness amongst medical professionals. The length of time to get diagnosis is still too long or it never happens at all. Approximately 90% of patients I surveyed learned about Ehlers Danlos Syndrome before the diagnosis was confirmed. So it’s the patients that are essentially doing all the work. My own story to diagnosis reflects this.
As I’ve said my reason for being late with this blog fits in nicely with the reflection of how rare disease patients are treated across the world but particularly in Ireland.
I was called by the wonderful Professor Rodney Grahame Friday two weeks ago. He asked me to come to London the following Wednesday to be examined as I am having some rather bizzare symptoms. Just before I get a migraine/headache one of my eyes bulge, the headache starts shortly after and my nose begins to pour a water-like fluid.
Professor Grahame had never come across these symptoms before which, for him would be rather rare in itself. He said I should go ahead and have my upright MRI and I only got my appointment times the following Monday. I had to fly to London the following day to be at Professor Grahame’s clinic on Wednesday morning.
The flights were phenomenally expensive and on top of all the stress of sorting out flights and accommodation, I had to leave my daughter for the very first time. She is almost 2 and we had never been apart longer than a few hours, let alone 3 nights and two days. We cosleep and breastfeed so we are very connected. I had to organise getting a breast pump so I wouldn’t get mastitis, plugged ducts or reduce my supply. Luckily, I am apart of a very close knit breastfeeding community so one lovely mummy donated a snazzy electric pump to hold on to as I’ll be over and back from London for the next year at least.
So on Tuesday my Dad and I flew to Heathrow via Cork airport. I brought my wheelchair with me as I was approaching that time of the month which makes me more prone to dislocation and soft tissue injuries. Plus going around London for 2 days was going to be tough on me anyway.
We stayed in Earl’s Court as per usual as it is a handy spot in the centre of everything. We were one tube stop away from the upright MRI clinic, Medserena on Cromwell Road and just 15 minutes from St John’s and St Elizabeth’s in St John’s Wood. Earl’s Court is also only one stop away from Kensington which is where all the big museums are such as the the Science Museum and the Natural History Museum.
On Wednesday I got to meet the wonderful Jared, Sarah and Annabelle Griffin of Annabelle’s Challenge before my appointment with Professor Grahame. I’m speaking at the Vascular EDS conference Jared is organising in May. We also combined forces and launched the REDS4VEDS campaign worldwide to raise awareness of Vascular EDS.
At noon I met with Professor Grahame. I am thrilled that he managed to squeeze me in during his last week of clinic as he is retiring from the Hypermobility Unit. He examined me and looked at the photos of my bulging eye.
He questioned whether I might have a problem with my Cerebral Spinal Fluid (CSF) and we also wondered whether I might have a Chairi Malformation as I have had weakness and other issues linked to Chiari for years.
Luckily Dad was on hand to show him a photo of my eye bulging and gave my medical history as a child specifically mentioning the weakness on my left side and my problem with going anywhere with artificial light and crowds as a child. I know now that it’s sensory processing disorder but nobody has put that down on paper as yet.
The next day we went to Medserena for my upright MRI. Two very dear Zebra friends of mine warned me that this wasn’t going to be as easy as a supine MRI and that both of them had never fully recovered from the scan. I really underestimated their warnings.
Professor Grahame had actually rang the clinic to make sure I was seen the day after my appointment with him. He ordered a scan of my cervical spine and craniocervical junction.
The staff at Medserena was very accommodating and polite, you didn’t feel like a client, you felt a visitor to someone’s home, not a cold and sterile clinic.
I went into the dressing room to put my valuables in the safe. Luckily, I had dressed in a loose top and a pair of leggings so I didn’t need to put on a gown. Just before I went in I took my Tramadol and Midon as suggested by the friends who had undergone this scan before.
Nervous, I found myself thinking about my children and husband. I pictured Olivia crying for mummy’s milk and Alex looking for cuddles in the middle of the night. I should be at home with them tonight, not hundreds of miles away across the ocean.
I sat down in the machine, luckily I got to sit as I was expecting to be standing. The scan wouldn’t have lasted that long if I was to stand because of my Orthostatic Intolerance.
The first position I had to look straight on. Because the scan takes 1.5 hours in total., the radiographer put a film on for me to watch. I had a choice between Skyfall or Tarzan. Didn’t matter to me either way as I didn’t have my glasses on, I could see diddysquat.
So, after the first position it was time to flex my neck downward, then upward and then right. There were a few occasions we needed to repeat scans as my images came out blurry. I had no idea why as I had stayed as still as I could. It’s ridiculous how still you have to be in an upright compared to a supine MRI. You can’t cough, you have to be breathe shallowly and you can not swallow. So you sit there five minutes at a time with saliva pooling in your mouth and your neck flexed in a position for five minutes.
When it came to my last position (neck turned left) I was in agony. After two attempts of this position, we had to give up. I was visibly in pain and it showed in the scans as they were very blurry.
Once I gathered my things in the dressing room, I went back into the reception and burst into tears. Not because of the pain-it’s not often that pain will make me cry now. No, it was my “fight or flight” mode gone into overdrive. I was so overwhelmed with the whole situation. Since the MRI finished at 5.45 (I went in at 3.45) my back, shoulder and neck had been giving me trouble. Two weeks later the problems persists with swallowing becoming uncomfortable and slightly painful.
The lovely receptionist brought me some juice and chocolate for my shock. I was a mixed bag of emotions. I felt like I had been something very traumatic had just happened to me. For those of you who’ve not gone through this, it might sound dramatic but those who’ve been through this know my feelings are perfectly valid. The radiographer gave me a CD of my scan images and we left.
I’m sure for people without my issues, the MRI isn’t as draining or painful. But with the problems I have with my neck, it was torture.
That night I took a sleeping pill and slept from 9.30 until we had to get up for our flight at 7am. I had a headache like I was hungover, my whole body ached more than usual. This scan really did a number on me. But, I was going home. I’d see my babies and my husband and sleep in my own bed tonight.
The Aer Lingus staff were amazing on the flight home, very pleasant and very accommodating. Even though we were 30 minutes late taking off, we arrived just shortly after our arrival time. I was brought to the front of the queue in my wheelchair for every point in Heathrow and again in Cork, much to Dad’s amusement and delight.
When we came through the arrival doors of the airport the children saw me. Alex came bounding over and it took Olivia a second or two to realise mommy was home. She then came running over. Of course, it didn’t take her long before she climbed on my lap and latched on. Hubby came over with a big bunch of flowers to welcome me home. I have been on many trips before but never had a welcome party like this. My heart swelled.
The journey home was tough as the roads in Cork are abysmal especially after Hurricane Doris had come sweeping through.
I landed myself into my usual spot when I got home, on the couch. I’ve been quite ill since and have only managed to leave the house a couple of times in two weeks.
I received my report from Professor Smith in Medserena last Wednesday. Thankfully no Chiari was noted.
The report was very detailed being four pages long. Here’s the Professor’s conclusion:
- In the cervical spine there is reversal of the normal cervical lordosis in the neutral position with evidence of instability at the C4-5 and C5-6 levels.
- There is no evidence of basilar invagination or of cerebellar tonsillar ectopia.
- Whilst the atlas is normally aligned over the axis. There is deviation of the odontoid peg to the left in the presence of intact ligaments of the craniocervical junction ligamentous complex.
- On looking to the right and to the left the odontoid peg moves to the contralateral side indicating an element of laxity of the ligaments.
I am awaiting a call from one of my consultants to discuss the results and a course of treatment for my issues.
I return to London on April 9th this time for Autonomic Tests and physiotherapy. The children will be coming with me this time to be assessed by their physio too.
It’s downright criminal that we need to disrupt our lives even more and travel abroad to access experts and have these tests. They are nothing overly complicated and could easily be done here in Ireland but nobody does them. There are physiotherapists in Dublin who could look after the children but it is actually more hassle travelling 3 hours to Dublin than it is flying 45 minutes to London. At least we know the children are in safe hands there.
I came across this image a few days ago while writing this blog and it really does ring true. This statement does not ring true to the doctors who look after us in the UK, of course but to the medical professionals who have no urge to learn or help those of us with Ehlers Danlos.
The theme of my talk at the Vascular EDS conference is about this very topic. Patients become the real experts when it comes to their condition. We know more about it than doctors who have trained for a decade or more.
I am the driving force behind my own medical care. For years I let doctors fob me off and dismiss my issues as nothing more than depression.
Luckily I have a great GP now who listens and does exactly what I ask her to do. I’m in charge of my own referrals, meds and treatments. She trusts my gut and knowledge. I am so grateful to have her, I know so many others who are not quite as lucky.
As I said, we are back in London in April and this visit is going to cost us 5,000 Euro.
I have friends helping to fundraise through coffee mornings and the likes.
My GoFundMe has been our main source of treatment money so far and I’ve been blown away by people’s genorosity.