Am I just a horse with painted stripes?

Today is Rare Disease Day. Normally held on Feb 28th each year, this year is a leap year so it’s held on Feb 29th. Which makes it extra rare. So, I’m going to attempt to write something, while sick in bed. 

A disease is defined as being rare if less than 1 in 2000 people suffer from it. So, under that criteria, Ehlers Danlos Syndrome is officially rare. It’s prevalence is officially 1 in 2500 to 1 in 5000 people. Which doesn’t sound like a lot, but in Ireland it adds up to over 1000 people. 

But, they’re just the people who are officially diagnosed. It took me 36 years to get diagnosed. It’s clear to me that my mother, who is 64, suffers from it too. But she is not pursuing diagnosis. Especially since each component of it, eg joint pain, IBS, fatigue etc are treated the same as you’d treat someone without the condition. (Except maybe exercise/Physio, where you need to be aware of the Hypermobility in the joints and not stretch things too far.) My two sisters and brother are showing symptoms too. 

And that’s just in my family. I know many many families where one member is diagnosed but it’s clear that others in the family have inherited the condition as well. There is a lot of heterogeneity with this condition, so some people may have it very mildly and fly under the radar. But it can also worsen almost overnight. So, where someone might not has been diagnosed when they were younger, they may suffer greatly when they get older. And as people’s joints naturally stiffen as they get older, these people may find it difficult to get diagnosed. 

And that’s not factoring in all those who have been misdiagnosed with other conditions, and who may not have any diagnosed family members to hint at what they really have. I’m thinking of all conditions such as fibromyalgia and CFS especially, as well as IBS. These people may not be ‘misdiagnosed’ as much as the condition that is underlying their illness has been missed. It is estimated that up to half of those with fibromyalgia may also have H-EDS*. As for CFS, many of these patients actually have POTS, which is often associated with, and caused by, H-EDS. Similarly, gastrointestinal issues caused by EDS as often labelled IBS. 

So, when you add up all the undiagnosed and misdiagnosed, it becomes clear that the prevalence of H-EDS is much higher than 1 in 2000. Prof. Rodney Grahame estimates that only 5% of those with EDS are diagnosed. He claims that the true prevalence is closer to 2% of the world’s population. 

The zebra is often seen as the symbol of rare diseases. But if H- EDS prevalence is actually 2%, does that mean I’m actually a horse? For the moment I get to keep my stripes, but who knows… I may be a horse in disguise! And while I like being a zebra, having more people diagnosed with hypermobilty EDS may lead to better awareness and ultimately more resources for those of us diagnosed with this condition.

*hypermobilty type EDS

UPDATE: I need to clarify that in this blog post I’m talking only about the hyoermobility type of EDS. There are many other types and these ones really are, and probably always will be, rare. Some extremely so.  

[image is of a brown horse with a light coloured mane, standing in a green field. It’s head is in profile and one eye is visible, which is looking straight at the camera. ]



PSA: Accessibility and an Apology

Image descriptions are a wonderful thing. Text readers can’t read images but can instead read out their descriptions, enabling blind people, or others who have problems with images, to get an idea of what the image is about. I really do understand how important they are. And, I’m sure you have noticed, I have included descriptions with some of the images I’ve used on this blog. 
However, I’m finding them incredibly difficult to write. I don’t know why. They say a picture is worth a thousand words. And maybe that’s my problem. My brain doesn’t know where to start, what to include, what can be left out. Maybe. I don’t know. This is a problem I never knew I had, until I attempted this task. I seem to work in words and not images. 

So, I really do have to apologise. Friends have tried to help, and I tried to follow their advice, but it just led to tears and meltdowns. I have finally found this step by step guide* and it seems simple enough to follow. So, hopefully it’ll solve my problem. I will spend whatever free time I have revising previous posts and including appropriate image descriptions. 

Thank you for your patience and understanding. 
* I had inserted the wrong link but have fixed that now

[Yellow background with the following words written in black: They say a picture is worth a thousand words. ]

Book Review: Big Magic

My husband bought me Elizabeth Gilbert’s The Signature of All Things for my birthday last year. That was in March. Because I was having one of my ‘I can’t read fiction’ episodes, I didn’t read it until October. And I was blown away. It is most definitely my favourite book of all time. Especially since it combines my passions of botany plus strong nineteenth century heroines. I wanted to write a review of it, but I’ve lent it to my mom, and I like re-reading books before I review them. And my mom’s not the best at returning books promptly, so… I’ll review another book of hers instead. 

Big Magic is Elizabeth Gilbert’s latest book. My husband got it for me for Christmas. Perfect timing, it was actually what gave me the final push I needed to start this blog in earnest. It’s subtitle is “Creative Living Beyond Fear” and that really is the central theme of the book. A primer in feeling the fear and doing it anyway. 

It seemed a bit weird at first, to be reading a book of non-fiction, a sort of ‘self-help guide’ from an author whose only other book I had read was a work of pure fiction. I had no idea what to expect. But I was pleasantly surprised. It really works, it reads well, it has wise words and sage advice. But also enough personal anecdotes to give it a flow. 

And, although I’m not into spirituality in any way, and I certainly  don’t believe in magic, this book is full of both. And yet, instead of being annoyed by this, I’m enchanted. Because it’s full of enthusiasm and joy and the very essence of creativity and inspiration. It’s very hard to resist. 

And please don’t think that because this book enspired me to write, and that its author is a writer, that it’s limited to that particular creative outlet. It’s sure to inspire creativity in any medium, whether that’s art,music, sport, gardening, cooking, or indeed writing. It’s basically a book about finding what brings you joy, and doing it, and nevermind the fear. 

Be Still, my Beating Heart. 

So, something odd has been going on with my heart lately. Every time I have a nap, which is pretty often these days, I wake up with a crazy racing heart. I’ve a heart rate monitor app on my phone, so I’m pretty in tune with my heart rate. My heart seems to beat a bit faster than average, usually the slowest it ever is is 75bpm (beats per minute), with ‘normal’ being 60-100. My ‘sitting up resting’ is about 85. If I go up a flight of stairs it spikes to 120. And after 10 mins of standing up, it can reach 130, which may be indicative of POTS

But this is different. It ONLY happens during daytime naps. And my heart rate reaches over 200bpm. And usually falls back down to the mid-70s in less than a minute. My doctor thinks maybe my heart is beating fast in between times, without me noticing, and making me tired, hence the increased need for naps. That’s certainly possible. I’m on a waiting list for a Holter monitor, to see what’s going on. But I could be waiting a long time. Plus the monitor will only pick up an ‘event’ if it happens within the 24 hours I’ll be wearing it for. So, I must make sure to take a nap that day. 

She also said that if my heart rate doesn’t fall back down to 130 within an hour, I’m to rush straight to the ER. But with a record number of ER patients on hospital trolleys, including right now my 87 year old mother-in-law, I’d rather not. 

My best guess for what’s going on is that it’s Supraventricular tachycardia. Which is only fatal in the rarest of cases. Mainly it’s more of a nuisance than anything else. I get chest pains and dizziness, but nothing I can’t get used to! Plus I’m a bit more tired than usual. 

So, that explains why my blog posts are getting further apart!

And here, for your perusal, is a screenshot of the second ever ‘episode’ I had, which I took to show my doctor. I am in the habit of checking my HR before I go to sleep and when I wake up. My heart rate was fine before the nap, around 9.30 am. And back to normal one minute after the ‘episode’. But look at the number at 10.33 am!

[ image of a screenshot from a heart rate measuring app on my iPhone called Argus. Various heart rates are shown in red, with their corresponding dates and times in black. The relevant measurements are from December 17th, 2013. At 9.28, the heart rate is 76bpm. At 10.33 it shows a heart rate of 208 bpm. By 10.34 it has fallen back down to 79 bpm. ]


Hyperlexia, or why I didn’t study English Lit at Uni

My mother tells a cute story of taking me to work at the Middle Eastern Technical University in Ankara when the babysitter didn’t show up. I guess I was around two years old. At the bus stop, I exclaimed “Bak anne” (Look mommy) “A-K-B-A-N-K-A-S-I… Akbankasi” In Turkey, public benches are often sponsored by banks. The punchline was some onlookers joking about how young college students were these days.

When I was four, and living in Ireland by now, I used to read my brother’s schoolbooks and long for the day I too could go to school. Nobody remembers teaching me how to read.

By age seven, I was getting into trouble for reading when I should have been “paying attention”. My teacher never did catch me out though, I’d know the answer to whatever question he asked me, even while secretly reading my copy of Jane Eyre hidden on my lap.

Reading, for me, was a bit like an addiction. I could never get enough. Phone books, leaflets, instruction manuals, nothing was too boring to read. This was the era before I had internet access, and so my choices were limited by what I could find at home. My mother has an extensive collection of books, and kindly let me at them. The one book I was explicitly warned against reading – Last Exit to Brooklyn – was devoured along with the rest. No book was too much for me.

In secondary school we were studying The Mayor of Casterbridge. Of course, I then had to go and read every single novel Thomas Hardy ever wrote. My mother finally had to ban me from reading nineteenth century novels when I was supposed to be studying. My peers were off drinking and partying and I was annoyed that I got into trouble for … reading.

Everybody marvelled how great I was at English. But I, myself, hated the subject. It’s one thing reading and enjoying a book. It’s another thing altogether to answer questions on it. Sure, I had great exam technique and could churn out the desired answers, but it bored me to death. It was then that I realised that I could never study English Lit in university.

I still spent every free second reading. And at last in University, I had unlimited access to thousands of books. After speed reading all my course textbooks, I scoured the shelves for other books to read, often with no link whatsoever to what I was supposed to be studying. I’d read at least a book a day, more during holidays when I didn’t have pesky lectures using up my time.

But still I would not discuss or dissect them with others. Except that one summer when my mother was a judge of an international fiction prize. She’d read a book and pass it on to me and I’d read it in a day and give her my opinion. It was payment for access to the books. I didn’t go into much detail, just used what she called my ‘laser-like focus’ and sum up my thoughts in a sentence or two.

When I first came across the term hyperlexia , I shared information about it on my Facebook page. A very good friend from secondary school queried my having it, as she claimed I had no associated difficulties with language. But she did not see the stuff I hid so well. How I can’t process spoken information so well, how I can’t follow audiobooks, how when learning French or German (classes I shared with her) I could not understand unless I saw the words written down. How, while I can follow movies if they have enough context, I cannot follow short YouTube videos without captions. She did not see how I scripted entire conversations and practised them in my head. Of course, I can’t blame her. I had everyone fooled.

I went through a period, after the birth of my kids, when I could no longer read fiction. I don’t know why. I blame exhaustion. But recently I’ve started being able to do so again. And I can’t wait to share my favourite books with you, fiction and non-fiction. But first a confession. I find myself, with this blog, attempting to write a few book reviews and share my favourite recent books. And struggling. So, forgive me if my reviews are brief and not that exciting. If I sum up my thoughts in just a sentence or two. It just reminds me too much of being in school! And of why I didn’t study English Lit at Uni.