Tuesday, September 19, 2017

Meet Sarah: Charcot-Marie-Tooth Disease Awareness

Charcot-Marie-Tooth...sounds like a fancy dentist, right?

Actually, it's a neurological disorder that was named after the three doctors who first identified it.  It affects approximately 1 in 2,500 people.  Some of the symptoms include foot deformities, muscle weakness and atrophy, loss of sensation, and more.

September is Charcot-Marie-Tooth or CMT awareness month.  Joining me today is Sarah Wells from My Stripy Life to talk about her journey with CMT.

Meet Sarah: Charcot-Marie-Tooth Disease Awareness

Hannah from Sunshine and Spoons: What condition do you have?

Sarah from My Stripy Life: I have lots of conditions, labels that have been applied to my list of symptoms over the years, my most recent being Ehlers-Danlos syndrome (hEDS) and the associated co-morbidities. But the one I'm going to tell you a little more about today is my first diagnosis, Charcot Marie Tooth Disease (CMT). It's a peripheral neuropathy affecting the sensory and motor nerves to my arms and legs. I like to think that my bodies nerves are like a system of electrical wires and because of CMT the wiring to my arms and legs is wonky.


Hannah: How does it affect you? How does it affect your family's daily life?

Sarah: A medical condition infiltrates every part of your life so that it is hard to tell what is normal or not and with long term conditions, it is often just the way it is and has always been. It's not until I've stopped to unpick my tangled web of medical symptoms that I've realised just how much of my
daily life may be affected by one thing.  Growing up I did not realise how much pain I was in, it had always been my normal so I thought that living with pain was normal for everyone. There was a moment in my early 20's when I finally admitted to myself that I couldn't cope with the level of pain I had on a daily basis. It was only from this point that I began to realise that daily pain wasn't normal at all. The main type of pain that I get from CMT is nerve pain, particularly in my feet. Mostly it is a stabbing pain, like a hot knife is penetrating my feet over and over and over, or burning pain, where my feet can feel like they are on fire and cramping at the same time. They ache all the time because of the extra effort for the muscles to work and I have muscular-skeletal pain from the bones dislocating and muscle imbalances.

I'm definitely not very strong but like everything it has become my normal in the same way that it is normal to find ways to overcome it in my daily life. Like having two handled pans so that my wrists don't dislocate, hot water plumbed in so that I don't have to fill a kettle, a downstairs loo so I don’t have to climb the stairs. Now that my children are growing up I don't have so many problems
undoing the bleach bottle or the children's paracetamol when my hands can't manage the lids as there is usually one of them on hand to help.

My hands don't feel sensation as they should, I rely on my eyesight for all fine motor tasks, even
for things like typing, as I can't feel the keys at all. If I cut myself in the kitchen I often see the blood before I feel any pain at all. When I run a bath I can't tell by popping my hand in the water if
it is too cold or too hot. I have to test the water three or four times and wait for my brain to register
a response, all the time proceeding with caution as scalding hot water often feels the same as
freezing cold to me.

Like many people with chronic illnesses I tire easily, especially when a task requires muscle power
such as walking, wiping the counter tops or writing. Every element of our lives is paced to avoid
the fall out from fatigue and to try to limit pain, there is always a pay off later for any fun that is had today.

I fall quite a lot, partly because I have poor proprioception, partly because I find it hard to pick
up my feet, partly due to muscle imbalances and deformity in my feet and also because I easily roll
over on my ankles. The kids are very good at picking me up or sitting with me while I catch my


Hannah: When did you find out about it? Tell me about that experience.

Sarah: After the birth of my first son, things went very wrong for me. A mystery pain in my left foot left me virtually unable for me to walk. After nine months of investigations and scans I finally had a surgery to fix a thickening of my sural root nerve and in the process was left with a CMT diagnosis to get my head around.


Hannah: What happened after you received your diagnosis? How did you react?

Sarah: Firstly, lots of things slotted into place for me. Why I had funny feet. Why I fell a lot. Why I wasn't strong. Why my feet hurt. Why I couldn't open a carton of milk without using my teeth. Why I couldn't run.

Then as the reality of having a condition for the rest of my life began to sink in I couldn't get the
words progressive, neurological, hereditary out of my head. Questions spiraled around my mind;
Why me? What would it mean for the future? For my little boy? Would I be able to have more
children? Would it even be fair to try?

It probably took me a good two years to get my head around what this would mean for me and my
family and to realise that I was still me. In essence I just had a name now for the weird and
wonderful symptoms that had become so embedded in my life. Little did I know at the time that I
was very wrong. It was my EDS diagnosis nearly 10 years later when things really began to make


Hannah: What good or bad experiences have you had because of your condition?

Sarah: My illnesses have stolen my career in teaching, the job I had trained hard for and loved with all my heart.

Around the time of my diagnosis my mobility deteriorated quickly in a short space of time, I would
dislocate as the bed covers lightly brushed across my knee, I couldn't walk on grass without falling
and having more dislocations. Then one evening I stretched in the bath and something just broke
in my knee cap. I had a young baby to look after and I was too proud to ask for help, life was just

After two surgeries in quick succession, I was told that I would be probably be a wheelchair user by
my mid 30's. While this wasn't a very positive thing to hear it had a really positive impact on me, it
was at this point that I decided to fight and to learn. I slowly began to get stronger and over the
next few years had two more children. Each pregnancy was better than the one before.

Having CMT has taught me to fight for the care for all of us, to negotiate, to say thank you when
people do their jobs well, to be assertive when they don't, to learn the law, our rights. We are
empowered. I am thankful for that.

It has also taught me to give back, by lecturing, writing on the blog and for different charities and
helping others navigate their own chronic illness journeys. I have been on my own journey through
diagnosis to the point where I am now, and I survived. I think that I am in a much better place
physically and mentally than before I ever knew that I had CMT. I am stronger and I can help
others to be stronger too.


Hannah: What has been your biggest challenge?

Sarah: Acceptance was one of the hardest things to grasp. For me this became much more than being able to talk about the conditions that I have.  There are two things that I struggle with.  The first is that I can't do everything, to admit that I am not normal, that things are hard for me.  I have had to learn to balance my life, management is the only option as there is no cure or magic pill.  When pain or fatigue flare I know that I have to rest in order to even function the next day but it frustrates the hell out of me and I think that it always will.

By far the hardest thing for me is accepting this for my children. All my children are bendy and
have varying degrees of symptoms relating to hypermobility or hEDS, and my youngest has a
confirmed diagnosis of CMT. I don't know if I will ever come to terms with the fact that they all have pain. I will never get used to watching them struggle where there peers don't. To be tired, tired,
tired all the time. To have to do daily physio to lead anywhere near a normal life.


Hannah: What has been easier to handle than you anticipated?

Sarah: When our daughter was born it was obvious that CMT was part of her too. We were formally told after she had to endure painful Nerve Conduction Studies just before she was two. It was gut wrenchingly hard but at the same time I knew that it was OK.

While watching her struggle is one of the hardest things to do, coming to terms with the fact that
CMT is part of her life was easier than I had thought it would be. This time we understood what we
were dealing with so we can be prepared for her future. We can fight this monster because we
understand the beast. We can always make sure that she will be her strongest best self.


Hannah: What was harder?

Sarah: To get the right support in place for us all has been a long road, one that we are still travelling. Just as you get the right ‘dream team’ of professionals in place someone leaves the service or goes on maternity leave. It's taken a long time to find these people, professionals that have something to offer us rather than attending appointments for us to educate them. This extends to fighting for the right support for my children in school, navigating systems from what feels like the wrong side of the fence in order that they are not at a disadvantage. In short, it's not the conditions that are the hardest to deal with but the bureaucracy of the health and education service.


Hannah: What kind of support system do you have?

Sarah: I talk to my mum every single day. I also have a small but fantastic group of friends, I don't have to explain because they just ‘get’ me. They know that some things are hard but it's no big deal, our friendship is much more than that.

My husband is a complete superstar. He works hard for us all so that I can be home with the kids
where they need me. He knows when I feel that I am drowning and holds on to me until I can
safely tread water again. He makes me laugh every single day. We are a good team.


Hannah: What would you say to someone who has just received the same diagnosis? What advice would you give them?

Sarah: Take your time to get your head around everything, any new diagnosis takes time to digest and process. Also remember that you are the same person that you were yesterday, before your
diagnosis, you just have a name now for your symptoms that you never had before.

Knowledge is power, you know what you are dealing with now. Read, learn, and use this new
knowledge to help yourself to be your strongest best self, with things like exercise and nutrition.


Hannah: Is there anything else you'd like to add?

Sarah: CMT has taught me perseverance and patience, when things are tough they will improve. It has taught me think out of the box and find solutions when problems present themselves, the rewards can be so much more when you work harder for something. It has taught me to value what is dear to me and treasure it with all of my heart. And it has taught me not to judge others because you never know their story.

Funny feet or not, I'm happy in my skin.

Meet Sarah: Charcot-Marie-Tooth Disease Awareness: http://bit.ly/2xtiSzG
You can find Sarah on her blog, My Stripy Life.  You can also find her on Facebook, Twitter, Instagram, Pinterest, and Google+.

Be sure to check out the CMT Awareness collection at the Sunshine and Spoons Shop to help raise awareness for this disease!
Do you or someone you know have Charcot-Marie-Tooth Disease?

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