Does it make me special?
One in 12 Million… the odds of having both hypermobile Ehlers-Danlos syndrome (EDS) and Charcot Marie Tooth Disease (CMT), based on current prevalence!
Some days it feels pretty special, let me tell you why.
I’m not going to dwell on the detailed science involved with hypermobile Ehlers-Danlos syndrome (EDS) and Charcot Marie Tooth Disease (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.
Lets start here, 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 as he has no symptoms… but it may still be there.
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 atrophy 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 – thankfully – 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.” At the time, as I was grieving the loss of my future, 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 but as she grew developed the skills of a contortionist and we started to want answers to all of the unanswered questions circling in our mind. 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 hypermobility, so I had half an idea what was coming 😉 After an hour and a half’s consultation I now had a shiny new EDS 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 hypermobile 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. This happens daily, this week cutting a slice of cheese I popped out my wrist and dislocated my ankle trying to pull off my jeans. It not uncommon for a sneeze to dislodge a floating rib. In my 20’s I would dislocate my knees on a daily basis with minimal trauma, walking into Regal’s (the local night club) 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. I have learnt 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 mindset plays a major part in my pain management as well as the CBT technique of pacing.
My proprioception 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 and 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, and now I’m well into my 40’s my eyesight needs a little support too!
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 the pain rehabilitation programme at Stanmore a few years ago 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 and was 38 at the time. Up until I was 39 I was asked how old I was when buying a bottle of wine in the supermarket. In my teens this would frustrate me, at nearly 40 I was quite flattered. There has to be a plus to this right?
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, hypoglycaemia, 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. 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. But key to living well with all of my conditions is 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 gastroparesis. So to combat that 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. Fatigue is a severe form of tiredness that exists despite a proper nights rest – or even a whole week in bed. Many people with EDS are 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 I had am ME label put on me without being properly diagnosed or supported. Having a son now with true ME I can see the similarities but also the distinct differences between us. He has been much more sick for a much longer period with ME, with post exertional malaise (PEM) and cognitive symptoms, like memory loss, recall problems and concentration being the hardest symptom to manage long term (not ideal when you are studying for your A levels).
Having a good attitude to having chronic illness 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, being taken to court by the local authority because you are trying to secure an education for your teen that is too ill to get out of bed – you get the picture, it’s not all rosy.
The key to success? It begins with acceptance. You don’t have to be jumping up and down with joy that this is the situation for you but to accept that for today this is how it is – and not fight it. You need your energy and it’s not to battle your situation 24 hours a day 7 days a week.
When you are in the depths of a new diagnosis and processing what that means for you and your future your mind is consumed with thoughts of illness and loss. It’s natural I get it. I’ve been there. But your world can shrink in a heartbeat… suddenly all you are talking about and reading about is your illness and condition; the worst case scenarios, the Facebook groups full of people competing to feel the worst.
It time to get real, how will this make you feel? About your life? About your future?
Arming yourself with the right information, getting educated – that’s great – but getting lost in a black hole of sadness and self pity is not. There is a fine line. Be careful.
Live, re-connect to who you are and what you want. Has that changed? Great, in life the only thing that we know for certain is that things change. What do you want now?
Who are your people? Who lifts you up and brings you joy? Who drains you? Who believes you? Sometimes the people that are there for you 24/7 to give you all the love and support may be keeping you stuck – even if their help comes from a place of love. What and who do you need right now?
What can you do? A small step that can make you feel a little better? A little stronger? (no matter how small) Can you do it every day and keep the consistency going.
Can you answer some of these questions for yourself and think about how you could start to make steps today?
Mindset work and pacing has been key to me living well with EDS and CMT in my life, it’s why I am a huge advocate for it and why I help others in similar positions in my coaching practice. I know and see first hand the good it can do.
I combine a combination of wellness coaching, CBT, mindset and NLP techniques to get fantastic results form my clients. To help them to move from stressed, tired and overwhelmed to become strong and empowered, energised and confident – ultimately in control.
If you would like to talk about how working with a coach could help you book a call, it’s free. It doesn’t matter if you qualify for the programme or not, during the call we can help you to get clear on what’s holding you back.
Join The Community
The Thrive Tribe is a community of women who have chronic illness.
You may feel like no-one understands what its like living with your chronic illness or worrying everyday about your kids. That you are hanging on by a thread or the future may feel a little uncertain. In The Thrive Tribe we get that.
You value life and want to be the best version of you. To manage your symptoms effectively so that you can live your best life.
In the community we will be having real, open conversations about how you can do this. With my experience of living with multiple chronic illness’ and raising kids with CMT, EDS, PoTS and ME. I know that the struggle is real. I will be sharing guidance, challenges, my personal tips and real life stories to remind you of how this can become a reality now!