Thursday 17 August 2017

Friends corner: Ehlers-Danlos Q&A {part 2}

Following on from part one of friends corner: Ehlers-Danlos Q&A, here's part two with some more friends. Enjoy!


2005                                                                                             2006



I became friends with Sarah around 2003 as we were part of a wider group of friends (scup the dirty AOH grungers, haha) and we later lived together.

I inherited the semi-famous Tubby cat (AKA Tubbz) from her, spent Christmases together (AKA St. Spickets), became godmother to her beautiful son Cian, and later devastated by his untimely passing. We've also been through many a carton of wine, mountains of white tights, bottles of Bucky, buckets of bobble hats and a million different hair colours between us!

Q. How do your illnesses effect pregnancy and child birth?

With trying to conceive, there seems to be a slight increase in miscarriages for Ehlers-Danlos patients when compared to the general population, as skin issues such as fragility can also occur inside the body.

However, the type and severity of complications really depends on what type of EDS the patient has -vascular EDS tends to present with far more likelihood of severe problems. I'm waiting on testing to rule out both vascular type and classical type, but I'm pretty confident that I have hypermobility type, or some form of hypermobilty spectrum disorder -criteria change came into place this year which has complicated previous diagnoses. So hopefully both London and genetic testing can clear up which condition or sub-type I do have. Here's some further information on EDS types.

The main issue with Ehlers-Danlos syndrome in pregnancy is the obvious one -that with such sudden, extra weight, I (or any sufferer) may be prone to dislocations even more frequently than usual.

For me individually, due to hip dysplasia/ shallow hip socket, I will more than likely require a C section. I'm perfectly happy with this. However, many people with EDS have issues with anaesthetic not working the way it should. Some people need extra at the dentists, hospital procedures and of course that includes epidural during childbirth. I'm not 100% sure why, I guess faulty collagen doesn't play by normal rules when it comes to anything. Luckily I've only had this inability to be sedated occur once in my life so far... But I imagine epidural failing during a C section is the very worst time that this can happen. I've heard of some women needing complete knocking out due to epidural failure. So that is something that I will need to stress to my doctors at the time.

Another possible problem with C section -People with EDS can take longer to heal after surgeries (my biopsy scar took longer than it should), we scar more easily (like that tiny scrape I got on my neck when I was eight that is still present) and our scars can burst open (like the mess on my leg), and of course this can't be great for such large scars. As I said above, skin fragility is common with EDS patients.

Many people with forms of EDS or HSD have mentioned that they felt their pain became worse after pregnancy/ giving birth. I'm not sure if this is down to a natural decline or if it's directly linked to pregnancy in other ways. Nine months is a long time, I know that my issues have all worsened over less time frames and naturally during pregnancy patients are less active. So I suppose it may be a mixture of all those elements combined. However, other people don't feel a noticeable increase in their pain and symptoms -it's very much a wait and see situation, that no one can predict.

My personal main concern in preparing for children is the effect on my body without my medication, particularly my antispatics (Baclofen).Without this medication my muscles tense to the point of all over body tremors, and I fear what way my body will handle these fits once again. This medication was an absolute life changer for me, and without it my body is out of control. I have concerns about how rigidity/ spaticity fits will effect a growing foetus. It might be safer to stay on a low dose, and this is something I will be discussing with my GP in the near future. I'm prepared for extra pain, and can handle that, but the fits are unbearable to the point of no quality of life (or bladder control! Too much info perhaps, but I'm trying to make these posts as educational as possible, even if that means embarrassing). 

From discussions in POTS (postural orthostatic tachycardia syndrome)/ dysautonomia groups, I've heard mixed results of how pregnancy effected each case. Some women actually noted that their symptoms eased up quite a bit during pregnancy. Others worse, and some had no dramatic differences.

I suppose the important thing to note is that every pregnancy is different, even for those who have no health issues. Doctors can't predict how things will go for me, in the same way they couldn't tell how things might go for a healthy person.

Planning to have kids is a risk, but it's something we've (myself and Bicky) have been discussing and organising for the last couple of years. From getting advice in support groups of all sorts, to normal things like choosing schools (trying to access a multi-denominational school in Ireland is a major challenge all on its own!) and decorating the spare room into a nursery. At this stage we are as ready as we can be, and are also considering the many issues that will arise after the pregnancy -raising a child as a disabled woman. But millions of disabled people do it all the time. It's something we both want and we feel prolonging it will only equal more problems. 
For further information, here's a really well written and detailed piece on Facebook:

(Note: JHS = joint hypermobility syndrome, the old phrase for HSD = hypermobility spectrum disorder. And EDS-HT = Ehlers-Danlos syndrome hypermobility type). 

Check out Sarah's artwork here:
Sarah Jane Hopkins Art

And she's recently started helping out over at:
Club Sonic TV


2012                                                           2013                                                           2015

This miniature wizard came into my life as a very shy, non-drinking, long-haired metalhead. Our first encounter involved him tagging along with Bicky to a very exclusive (haha) nightclub called Amber. Which now doesn't exist, but it was the go to dive for anyone in Dundalk around 2009. I asked him if he wanted a drink -he said no, panicked, and looked at me like I had two heads... He's learned a lot of social (and alcohol) skills since then! Haha. Himself, Bicky and Gabe are a package deal (package of nerds, snort).

He now has short hair, and continues to be short in general. He's now counting how many times I wrote the word short and related synonyms in this one paragraph. We are both quite short and discuss it in-depth. We both also enjoy cider.

Here he is in his early wizard school days -rockin' out with Bicky, haha:

Q. How did you get diagnosed/ figure out you had EDS?

I knew for a long time that I was "hypermobile" and had heard this could cause pain, but I never really mentioned it to any physio, or anyone who accessed me -specialist, or GP... I kind of didn't want to tell them how to do their job I guess, and most times when I had suggested anything I had either been ignored or it angered them. I suppose I thought that someone will eventually notice, and that, well maybe I'm not hypermobile enough for it to cause issues. As surely someone would have said it to me by now.

For many sufferers they are diagnosed as being hypermobile/ hypermobility spectrum disorder (formally HMS -hypermobility spectrum disorder), and then sometimes later the term
"Ehlers-Danlos syndrome" crops up.

Diagnoses of EDS hypermobility type is done through clinical findings. So the doctor checks how hypermobile/ flexible you are, using the
Beighton scale (and sometimes elements from the Brighton score, although it doesn't conform a diagnoses). As I've said in my last Q&A, it's important to note that many people are hypermobile/ double jointed, but have no pain or issues. Secondary issues are generally looked at, to build a bigger picture of the patients exact diagnoses -skin involvement (poor healing, stretchy skin, soft/ silky skin, history of scars bursting, paleness, etc.), eye symptoms (dryness, blue sclera, etc.), flat feet, early onset stretchmarks (as in childhood), lack of or small frenulum of the tongue... and a million other minor elements that I can't think of right now!

But getting that all elusive EDS diagnosis is a tough one -Ireland really doesn't have anyone qualified to make that diagnoses. I went privately to a consultant who is one of the closest Ireland has to such a specialist. There are a couple of such people around the country, but they still aren't the full, real deal. Usually after spending the money to go private here, we then go private to the UK to make sure, -double, double check, that our diagnosis is right. Which I will be doing in the near future. But obviously Ireland needs our own, fully qualified and readily available consultants. That's why I have set up this petition:

To: Taoiseach Leo Varadkar and Minister for Health Simon Harris

Appoint a qualified consultant for Ehlers-Danlos syndrome in Ireland

(more on that in a future blog post! But please sign and share on social media).

Other forms of EDS (like classical and vascular) can be diagnosed through genetic testing, and it is hoped that one day the exact genes for the hypermobility type will also be isolated, to make the diagnostic process easier. For this reason, anyone who is suspected of having EDS hypermobility type should undergo genetic testing, to rule out either another form or a cross over of types. I'm currently on a waiting list for such testing.

So, getting back to my case -eventually a physio, on examining me, said "you're very hypermobile", and I replied, "I know". It all really stemmed from there.

Previously I had been told by neurologists that they believed I had a form of dysautonomia -more than likely,
POTS (postural orthostatic tachycardia syndrome). However they stopped short of diagnosing me fully for that condition, as they said it wasn't their expertise and that I should see a cardiologist with dysautonomia knowledge. I put that on the long finger, and continued to do things to help my low BP and issues that were advised -plenty of water/ liquids and plenty of salt. When I later found out about a condition called Ehlers-Danlos syndrome, everything really clicked for me ('scuse the pun! Haha). There was a close link between dysautonomia and Ehlers-Danlos syndrome. Usually with most people it's the other way around -they learn about EDS and then later find out they have dysautonomia, so I kind of went a bit backwards! I'm now seeing a cardiologist and waiting for tests (my whole life is waiting for tests and appointments, haha), although he thinks it's either POTS or possibly IST (inappropriate sinus tachycardia).

Q. WTF is a spoonie?

A "spoonie" is a term used by the chronically ill that relates to the spoon theory -a way to express energy levels and fatigue to those who have normal energy and fatigue levels. You may hear someone say "I'm all out of spoons today", and similar phrases. Basically spoons are levels of energy, so for example you might have five spoons for the whole day and so have to decide how best to use these spoons. Remembering that you only have five, means you probably have to pick between tasks by importance. So showering might take two spoons, cleaning the house might take three, and so on. Obviously everyone differs.

So the term "spoonie" really just refers to anyone who is chronically ill.

I think it's important to note that many people in the community are opposed to the idea of spoon theory, as they feel it oversimplifies the levels of fatigue we actually endure. And I do kind of agree with that notion. The idea is almost centred around the belief that we may be able to control our energy levels and some how manipulate them. While on a "good day" that might be plausible, things are generally never so easy. For example, if I have a big event coming up I will try and limit my movements and save my energy, in the days proceeding the event. Which coincides with the theory -saving up my spoons. But unfortunately, it just doesn't always work like that. I can try my hardest, yet wake up the day of the event with zero energy and limited mobility.

BUT I do quite like the word spoonie, and I can see its appeal -it sounds cute, almost young. It rolls of the tongue easily. It gives us a title that sounds nice. It's not associated with the elderly, it's not as cheesy as "special needs", or as stern as "disabled". It's more socially acceptable than "cripple" (one of my faves, obviously -but the whole movements of crip the vote and such are not well known outside the community). So for me and for others, even if I don't agree with all the points of the theory, the title is up there with one of my most liked. Likewise, I also like the word "painies" -as in my group,
Irish Painies (plug). For anyone residing in Ireland suffering with chronic pain, no matter what condition. 

Q. At what point should we start building you a robot body?

I know you are joking, but if that is at all possible/ something you are able to do -I'm a little pissed you haven't done so already! Get on that. I would happily replace any of my limbs with prosthetics/ robotic upgrades if it would make me in less pain and my body more capable... You work in computers (I'm still not entirely sure what it is you do -you're the Chandler of the group), so that seems like something you should be working on. 

Phil does the music things with the Gabe, here:
Lunar Effect


Steve is a new-ish addition to my life, as only met him a few months back. So excuse the lack of photos! He is the other half of Sarah (above).

He enjoys sarcasm, dogs, guitar, having a beard and speaking in a funny accent.

Q. Are all your illnesses linked or separate?

Short answer -yes, they are linked.

Ehlers-Danlos syndrome is closely linked to dysautonomias (such as POTSIST, and so on).
2. A lot of people with EDS (and other hypermobility conditions) are born with hip dysplasia.
3. The issues with my eyes (dry eyes) is a result of the EDS (faulty collagen effects every part of the body). We tend to get age-related issues that everyone gets with their eyes, but at a younger age.
Dyspraxia (developmental coordination disorder) is common within EDS patients, and many people with dyspraxia were born with hip dysplasia. I have only been advised that I probably have this added condition by a physiotherapist, and an occupational therapist is needed for proper diagnoses. Waiting on that appointment -spend my life waiting on appointments, haha.
5. Digestion issues and
hiatal hernia's are common elements with both EDS and dysautonomia.

Secondary issues like these are called
comorbidities, which really just means that you are prone to secondary ailments that are linked in with your initial diagnoses. So once you have one diagnoses, expect to collect some more -like Pokemon... except not cute or fun. Many conditions have associated comorbidities. For example, a lot of people who have autoimmune diseases (Lupus, rheumatoid arthritis, Hashimitos, Grave's, etc.) have a couple or even a few of them all at once. And because of this, I may continue to collect a couple of more diagnoses in my lifetime. But my main condition is Ehlers-Danlos syndrome (assumed hypermobility type, although currently waiting for genetic testing to rule out classical type or vascular type). 

For further info, see these links:

Check out Steve's musical musings here:

Thanks again to everyone who has taken part, and I hope those reading have learned something new about EDS. If ever anyone has other questions, feel free to PM me on Facebook: Cripple Baby - Disability Blogger. Sorry some of these answers are so long-winded, it's a complex condition! If you haven't already, check out part one: Friends corner: Ehlers-Danlos Q&A {part 1}

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