Living with EDS and CMT – One in 12 Million

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.

Written by Sarah Wells

Thanks for stopping by… My name is Sarah, I’m a mum, wife, writer, blogger, advocate and occasional public speaker. This is my blog, where I share our life with the world while raising my children to be happy with their perfect imperfections :)