I’m not going to dwell on the detailed science involved with EDS and CMT, the genetics behind the conditions so to speak.  I may get into that all in a bit more detail at a later date.  I will try to explain what it means to live with them each day.  Why I might look fine one day and not the next.CMT is genetic, it has been passed to me from my mum.  We were unaware it was in our family until I was diagnosed after complications having my first baby.  It is thought that around 23,000 people in the UK are affected.  I have a 50% chance of passing it on to my children.  I have three children now, our youngest had a positive diagnosis just before her second birthday, one of the boys has a negative result and one hasn’t been tested.

CMT affects the nerves in your peripheries, your arms and legs.  Our body’s system of nerves is similar to a network of electrical wires.  Some of them, called sensory nerves, are designed to pass information back to the brain about what you can feel with your fingers, toes, legs and arms, etc.  The others are command pathways, telling your muscles to do something, like lift your left foot – and are called motor nerves.  CMT affects both these types of nerves so you can experience weakness and wasting in your muscles, numbness and sensory problems. In the type that we have in our family the myelin sheath of the nerve, the insulation, isn’t working properly affecting the speed of the signals getting through. This deterioration causes the atrophying of the muscles in the foot, lower leg, hand and forearm.

The muscles in my feet have wasted significantly and I now have foot bone abnormalities including pes cavus feet (high arches) and hammer toes and I walk with supination (roll onto the outsides of me feet).  My leg muscles are doing the job that the foot and ankle muscles aren’t and I am fortunate enough to be able to still lift my feet.  It does mean I over work my hip flexors, iliotibial band and hamstrings to walk and cramp and pain wakes me often at night.

The muscles are wasting in my hands and my wrists are weak giving me problems with hand function and dexterity, they are often painful as they don’t have the muscle bulk to do the work that I ask them to do each day.  I also dislocate and subluxate my thumbs and wrists in a couple of places but EDS has a part to play in this.

CMT is progressive, it won’t get better or go away but it is not life limiting.  When I was diagnosed I was a new mum and having a hard time getting my head round it all.  My neurologist said to me at an appointment, “If I had to choose any of the hereditary neurological diseases I would choose CMT.” I thought he was nuts! But he was right. There are much worse neurological conditions to have, he didn’t know at that time however I had EDS as well.

My EDS diagnosis came later, 10 years later.  At first we thought that CMT explained everything in our families weird and vast medical history but as time went on gaps showed.  Rubie blessed our lives with her beautiful smile and the skills of a contortionist and we started to want answers to all of our unanswered questions.  It was recommended that I see the amazing professor Rodney Grahame before my foot surgeon would consider surgery, at this point I had been reading his books to gain answers to Rubie’s gross hypermobility.  After an hour and a half’s consultation I now had a shiny new badge to wear.  The missing pieces of our puzzle now slotted into place.

EDS is the term given to a whole collection of inherited conditions that fit into a larger group known as hereditary disorders of connective tissue. Connective tissues provide support in skin, tendons, ligaments and bones, it is the glue that holds the body together.  There are several different, distinct types of EDS, but they have some features in common, loose joints, stretchy skin and tissue fragility. I have Hypermobility Ehlers-Danlos Syndrome. The exact cause of HEDS is unknown. The features suggest that there is a problem with connective tissues and possibly collagen. The condition appears to be inherited which suggests that there is a genetic cause. It is likely that there is an alteration in a gene, or several genes, containing the instructions for making connective tissue. This results in the connective tissue being less effective.

It leaves me with joint hypermobility, my joints having a wider range of movement than usual, they are loose and unstable, can dislocate and subluxate.  I sublux my joints daily, this week cutting a slice of cheese I popped out my wrist and couldn’t lay on my back in bed or one of my shoulder blades would sublux.  In my 20’s I would dislocate my knees on a daily basis with minimal trauma, walking into Regal’s on a Saturday night or turning over in bed.  I had major knee surgery to realign things and tighten ligaments so it happens less now than before but is gradually becoming more of an issue again.  As my joints are less stable they are prone to sprains and strains.

I’ve had to make friends with the pain, it’s part of my daily life now.  This can be ‘acute’ when I overdo things or as the result of an injury like a dislocation or ligament injury.  It can also be a sustained persistent pain, this is worse for me when I am tired and I can feel like my whole body has been beaten.  I also get a lot of neuropathic pain. The rehab programme at Stanmore has taught me a lot about managing the pain I have.  I’m a classic boom buster and pushing through my pain every single day wasn’t doing me any favours at all.  Now I accept it, deal with it with medication, pacing and distraction and move on.My propreoception is poor, this is my body’s ability to sense stimuli arising within the body, with regard to position, motion and equilibrium.  To sense where ones body is in space.  It affects balance co ordination.  It is further affected by the sensory and motor nerves in my hands and feet being significantly limited.  I rely on my eyes for a lot.

One of the worst symptoms for me is the autonomic dysfunction that can go hand in hand with EDS.  The functions that your body takes care of automatically, without you having to think about it.  These manifest itself with feeling dizzy, faint, passing out, palpitations most often when you change position from sitting to standing.  Other symptoms include difficulties in maintaining body temperature, shortness of breath and cheats pain, migraine, adrenaline surges, fatigue, hypoglycemia, headache, blurred vision and brain fog and abdominal symptoms such as bloating.

These autonomic symptoms never go away they are always lurking in the background waiting to pounce.  When they flare life is impossible, I have been in a position for weeks on end where I can’t lift my arm to brush my hair, talk without being completely breathless or stay awake for more than a couple of hours.  I am very thankful that my autonomic symptoms flare up then settle down again.  I have and a flare last for months in the past and it probably take a year to pass fully.  I can not imagine living with it at that level daily, forever.  I manage my symptoms every day by drinking plenty of water and adding salt to everything, increasing my blood volume, keeping physically conditioned (which is easier said than done!) and some medication.  I have also learnt to listen to the warning signs and stop before my body completely crashes.

The laxity of the connective tissue in the stomach and colon as well as the problems with the body’s autonomic responses can be responsible for many abdominal complaints, such as bloating, constipation and gastropesesis.  I eat a wheat and gluten free diet and it helps relieve some of my gastro symptoms such as bloating and nausea. Small regular meals and medication help with the rest.

The fatigue can be relentless, I’m guessing that I am lucky enough to get a triple whammy of this from the CMT, EDS and autonomic dysfunction.  It is a severe form of tiredness that exists despite a proper nights rest.  Many people with EDS are mis diagnosed with ME or CFS long before their EDS diagnosis.  This is exactly what happened to me, when no one could explain why 3 months had passed and I still couldn’t function they slapped an ME label on me.There is a plus to all of this though, soft velvety skin.  Many EDSer’s look years younger than their age.  The downside is that I have mysterious bruises appear everyday, my skin marks really easily and my scars are stretched and thin.  When I was in rehabilitation at Stanmore last June and first met the girls on the ward they were shocked to hear that I had three children.  I was actually 28 when my first child was born.  I still get asked for Identification from time to time buying a bottle of wine in the supermarket.  In my teens this would frustrate me, at 38 I’m quite flattered.  There has to be a plus to this right?

All of our children are hypermobile and for two of them pain and fatigue are common features in their lives.  We don’t know how this will play out for them, if they will be awarded their own shiny badge as we suspect.  My head says they will, my heart prays they won’t.

Having a good attitude to being ill helps, I’m not saying it’s always easy.  When something pops and won’t relocate for days and days it’s hard.  Managing a family, school and hospital appointments on bad days is tough.  I do cry. The key to success? I don’t know if I have found the answer yet but an organised, consistent and positive approach alongside lots of laughter with those you love seems a good place to start.

17 Comments

  1. Pingback: It is #RareDiseaseDay – this is a great post written by Sarah on My Stripy Life | Pain Pals

  2. Thanks for a wonderfully written post…yet again, Sarah! Haven’t had a chance to write anything myself (GP appt & now gut is going mad) so going to reblog you….you cover it all so well. Hope you and the kids are keeping OK?! Claire x

    • Sarah Wells Reply

      Thank you Claire, it’s actually one of my first ever posts but so right for Rare Disease Day. We are all good…ish here thanks, hope your belly starts to behave soon – there is always something isn’t there?!? Take care, Sarah xxx

  3. I was diagnosed with hypermobile EDS in March and just found out yesterday I have genetic defects causing at least 3 types of CMT. I also have many signs of autonomic dysfunction as you described. It’s very overwhelming and I was lucky enough to have someone direct me to your blog. I am a 30 year old mom of a 6 year old and I’m hoping that reading your blog will help me come to terms with this all and find my new normal. Thank you!

    • Sarah Wells Reply

      Any new diagnosis can be overwhelming at first, take your time, breathe. And remember that you are the same, amazing person that you were the day before your diagnosis you havent changed. You just have information now that in time will help and guide you on your way. Once I came to terms with everything I began to feel empowered by the new information that I had, I dealt with problems with my health differently because I understood the nature of the beast and I found the right doctors that could help me along the way. But this was a process and it took time. Good luck on your journey Karla, I hope the blog helps. You always know where I am. xxx

  4. Jen Augustine Reply

    Hello, I am so happy to find this blog! My son was diagnosed with Congential fibre type disproportion myopathy (neuromuscular disorder) and Ehler danlos syndrome. He just turned 3 and he is severely affected. His doctors and therapist have never worked with a child like him which is hard. I worry about his future constantly and since he is adopted do not have family experience to draw on.

    • If you have a good team around you that are willing to learn and to listen then that is a really good start, to be able to look beyond the text books. Every child is different and having two conditions may cause either one not to present 'typically'. For example the bendiness of EDS means that my daughters feet are flat and pronated and do not take on the pes caves (high arched) deformity of CMT. Because of this Dr.'s thought that CMT wasnt there as she wasnt typical, but it is, and because of the muscle weakness from the CMT and EDS she sprains, and partially dislocates a lot in her feet and ankles. I have lectured at Brunel to training physiotherapists and plan to put the bones of the lecture on the blog (when I get 5 Mins) you may find it useful. All I can say is having parents who are passionate about doing the right thing for their children, whatever their background, is all children need to reach their full potential and it looks like your son has just that 🙂 Sarah x

  5. CMT and EDS both run in my family and EDS is also on my kids father' side. My son was diagnosed with EDS several years ago after years of doctors trying to figure out what was going on. Finally we were sent to TC Thompson's childrens hospital to see a genetics specialist who diagnosed him with Hypermobility EDS. After telling her about family history of joints popping out of place she told me she would almost guarantee we all had it but had never been diagnosed. Finally after him being diagnosed and my doctors reading about it they have decided I also have it. My youngest daughter has been having a lot of problems but we are still fighting to get her sent to TC Thompson's. Right now her doctor is basically saying it's all in her head which is making me very angry. Hopefully soon I can convince them to refer her. Anyway I have been tested for CMT by having EMG done several years ago it came back inconclusive. I deal with sever pain everyday I see a pain management doctor but it's basically the same as with my daughter it seems like they think a lot of it is in my head or I'm just making it up. It is very frustrating when doctors hadn't even heard of CMT or EDS until I mentioned it in family medical history and they asked what it was. Sometimes I wish the doctors could go 1 day feeling our feelings. At least now I know it's not just my family.

    • Yes! If they could just walk in our shoes we wouldn't need to shout so loud to be heard. To be honest over the years I was made to feel that all of these weird and varied symtoms were not there so I just go on with it. It was not a positive way to manage anything. When things got really bad after having children I just dropped on the right doctors who 'got' it and slowly over 10 years got diagnoses and treatment plans. It was a long road. My advice, and the advice that I follow with my kids now, do your research, get to the right Dr's who know their stuff. Charities are a good source of info and you pick alot up in FB groups (good ones)! If the relationship doesnt work with a Dr. find another, chalk it up to experience and move on. They wont all 'get it'. And trust your instincts, they are usually right 🙂 Good luck and keep me posted… Sarah x

  6. Hi, my name is Joe. I didn't know I had EDS until my 12 yr old got diagnosed a few years ago. It's definitely genetic, the doc that diagnosed my son said he had to get it from an effected parent. It has explained a lot to me. Things that happened to me when I was younger. Getting the world to understand when you look "normal" has been a challenge…. To say the least.
    Also my wife, Judi has CMT and so does my daughter. The struggles they face is a very hard thing to witness. Now my daughter is showing symptoms of EDS. I'm worried for her. I see the struggle my wife and I go through with our single conditions. I can't imagine having both.
    Thank you for sharing…. This has helped a little
    Joe

    • Ah thanks Joe,

      My diagnoses came quite late in life really. Years after I started falling apart! but it answered lots of questions and now means that I can approach management effectively, getting the best out of what God gave me instead of always fighting against it. Having both CMT and EDS can be a blessing and a curse. My daughter has both conditions like me. One child has been tested for CMT and is clear but most def has EDS and PoTS. The other has never been tested for CMT but has probable EDS. Even with their mix of everything they all present so differently but knowing what you might be dealing with and why really helps.

      My husband struggles to watch us sometimes, its the hardest thing for him and I know that watching those you love find things hard is much more difficult than struggling with those things yourself because you want so much more for them.

      Pacing has been my saviour and is key for my daughter too, as is having access to a good physio and OT to advise school where needed. Keep your eye on the blog new book coming soon which you might find of interest, its written for EDS parents but many of the ideas are transferable to CMT too.

      Take care, Sarah x

      http://mystripylife.blogspot.co.uk/2016/05/51-tips-for-parents-of-children-newly.html

  7. Hi, my name is Joe. I didn't know I had EDS until my 12 yr old got diagnosed a few years ago. It's definitely genetic, the doc that diagnosed my son said he had to get it from an effected parent. It has explained a lot to me. Things that happened to me when I was younger. Getting the world to understand when you look "normal" has been a challenge…. To say the least.
    Also my wife, Judi has CMT and so does my daughter. The struggles they face is a very hard thing to witness. Now my daughter is showing symptoms of EDS. I'm worried for her. I see the struggle my wife and I go through with our single conditions. I can't imagine having both.
    Thank you for sharing…. This has helped a little
    Joe

    • Thank you for taking the time to comment Joe. My mum, me and my daughter have both conditions and my son just EDS, most of the time we get by, some days its bloody hard. The hardest thing for my husband is to watch and not to take it all away for us. The hardest thing for me as a mum is to watch my kids struggle to be 'normal' and the people that I have to trust to look after them not always 'seeing' how hard they try. Pacing, pacing, pacing is the way forward when managing EDS and CMT. Impossible to master but the benefits in terms of pain and fatigue can be amazing. Take care xxx

  8. I have CMT and EDS. The autonomic symptoms clearly outline occurrences that I have been puzzled about. You have done an eloquent job at describing "life", as we know it.

  9. You literally just described my life. I have all this too and I really know your struggle. I'm 21 with two children (3 year old and 10 month old) and everything you said is exactly my life every day, especially the hair brush thing which I hate because I was a hair dresser, which I know I will never be again.
    I feel I've got worse after my second baby, cmt progressing alot faster now and dislocations are becoming even more frequent and harder to deal with.
    This has really inspired me, and you sound like an amazingly strong women. I wish I had the attitude you do, but it's so hard when you just have no energy to do even the smallest of tasks.
    It is nice to know that I'm not alone with this triple whammy of badly dealt cards. Thank you for sharing your story. Keep being strong.
    Jess xx

    • Hi Jess, nice to meet you, there are not many of us!! When mine were little it was harder on me physically. Fatigue was a killer. It has got better as they have grown and I've trained them to be independent themselves which helps everyone. I can't stress enough how much pacing has helped me to deal with the demands of family life and taking time for myself allows me to be a better mum to them. I'm not talking about complicated things just prioritising time for a cuppa and a chat with friends. For years I felt guilty if I expended energy on things like this but it is good for us all. Check out my post on the RNOH Stanmore rehab programme – I learnt a lot there (you can find it in the older posts section). Dislocations and subluxations are the worst and it's so hard to build and maintain musccle to support the joints when you have CMT. If you ever want to chat you know where I am. Find me on FB https://www.facebook.com/mystripylife/ and twitter @mystripylife or by clicking on one of the 'lets connect' links on the blog XXX

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