It is #RareDiseaseDay – this is a great post written by Sarah on My Stripy Life

Today is Rare Disease and I have a wonderful piece for you to read about my own rare disease….I wish I had written it but another UK Zebra friend & mum, Sarah, is the author! Enjoy!

1 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………continued

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……” continued

Envy (1)

 

This is just a small part of Sarah’s post and I would really like you to visit her as this is my story too…well at least the EDS parts including the daily dislocations, dysautonomia, pain, gut problems and in our family neck issues with recurrent migraines.  All 3 of my kids have symptoms too, with the boys both experiencing dislocations of the knees in early teens, one has bizarre stretch marks on his back whilst the other has mild pectus excavatum (deformity of sternum), and one has severe migraines & I suspect a Chiari malformation.  The lovely girl has chronic pain (which she deems not too bad although it is daily), dislocations and difficulty holding a pen.  All three have poor proprioception (are clumsy), have snow vision on standing (dysautonomia) and anxiety…..

Find Sarah’ complete post here : One in 12 Million 

Be sure to watch her wonderful kids’ film here: https://youtu.be/rTtcT5qaiZw