Empathy – A little girls diagnosis of CMT

This week one of my daughters school friends had a diagnosis of type1 diabetes.  He’s just 5 and has been her boyfriend since nursery.

I can not begin to comprehend how his parents are feeling right now as they embark on the journey with their sons complex illness.  I have no doubt that they will negotiate the fine line between independence and control as he grows and develops into a young adult with great skill.  They are fantastic parents to a super funny, bright and kind little boy.I have found my mind wandering to the feelings I had when Rubie was diagnosed with Charcot Marie Tooth disease.

Rewind 3 years.  Rubie is 22 months old.  We find ourselves in the electrophysiology department at GOSH.

Rubie is going to have nerve EMG’s to check if her nerves are transmitting signals at the correct speed.  I’ve had the test, it’s painful, they connect electrodes to your skin and apply a current through your nerve collecting data at the other end of the line so to speak.  It is not an easy thing to put your child through.

It had taken us over a year to get to this point, we first saw the GP when her feet and ankles were so flexible they looked like they had been stuck on backwards as she stood.  What followed was a year of going backwards and forwards between orthopaedic surgeons, orthotics departments and physiotherapists, finally ending up in the neuromuscular unit at GOSH when the local doctors realised that we weren’t going away.  The neuro physiotherapists said that she was the bendiest child they ever seen and t

he professor agreed that there was some balance and weakness issues that may be suggestive of Charcot Marie Tooth disease.  He agreed to test her.  So after a very long walk over to electrophysiology we nearly had our answer.

I remember how positive I was for Rubie, super smiley, mainly because I knew what was coming and that I couldn’t prepare her for what she was about to feel.  The only saving grace was that she wouldn’t  be old enough to remember it.  I can’t tell you how long we were in that room as we waited the minutes seemed like hours, it felt like a life time.  I can remember the room vividly, a thousand of shades of grey, harsh electric light, filled with broken toys, it surprised me how u stimulating the environment was for a world renound children’s hospital.  I was thankful for the doctor, he knew his stuff and in his wisdom only tested one side of her body, an arm and leg, so as not to put her through any more pain than absolutely necessary.

The end of the test.  Rubie fared well. She never even shed a tear and I know adults that have not been so brave, although she vocalised quite clearly how much she did not like it.  Then the doctor turned to us asked if we would like to know the result.  The thought of waiting for a letter to drop on to the mat was not an option at this point, in fact if he had not offered the information I would have asked, may have even refused to leave.  ‘The test shows neuropathy of the motor and sensory nerves consistent with a diagnosis of Charcot Marie Tooth disease.’

We had waited for this result, fought for it even but I felt like my heart had been ripped out of my throat.  I couldn’t speak.  I barely ate for a week.

A diagnosis is the start of a journey, of learning, of grieving for what was or what might never be, of becoming a new person.  I have learnt so much about myself and the incredible strength of my family, qualities I never dreamed that we would posses.  Most of all I have learnt to be strong, to stand up for and trust in my beliefs.  Sometimes the road I navigate seems filled with pot holes and blind turns but I have always managed to move forward and the path always becomes easier to tred once more.

Some people look up to celebrities, politicians, sports heroes.  My superhero is my gorgeous little girl with the strength to fight big battles every day that no one even knows about, always with an illuminating smile and a glint in her eye.

Do you want to find out about my journey with CMT? I bare all in a personal letter to my neuromuscular disease.

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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 :)