Blog CMT Diagnosis EDS Management


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I was diagnosed with CMT by accident after a complication when I had my first baby left my in pain, almost unable to walk.  When investigating the cause of the pain the doctors carried out nerve conduction studies which clearly showed slow conduction.  A diagnosis was later confirmed genetically.  I hadn’t been without symptoms, I had classic pes-cavus feet, hammer toes, fell all the time and had foot surgery to correct some deformity,  no one had ever spotted it.

The average time to diagnosis for many People with EDS exceeds 10 years.  For me this figure was 29 years from the onset of the first quantifiable symptoms when at age 7 doctors were first unable to explain my pain, this pattern continued.  When I finally got my diagnosis of EDS I was absolutely elated, I remember shedding a tear but not for what I might loose but for the knowledge I had gained.  I was now back in control, a feature that had been steadily slipping away with my health despite my best efforts.

Like many EDS and CMT patients I have collected catalogue of mis diagnosis’ over the years.

I now have the correct diagnosis of Ehlers Danlos Syndrome and Charcot Marie Tooth disease (although confirmation or dysautonomia in an autonomic unit is still a work in progress)

Diagnosis has enabled me to understand why I have the symptoms that I have and treat them accordingly.  For example in the past when my autonomic symptoms have flared leaving me with severe fatigue, chest pain, breathlessness and pain I rested, (quite frankly doing anything is an effort).  Now with understanding I know to keep moving, no matter how little, to prevent myself from becoming deconditioned and feeling worse.  I also know that staying hydrated is important and having extra salt, wearing compression garments and doing calf pumps also simple things like fidgeting can stop me from feeling dizzy.  I now have a tool kit that I understand which means that I haven’t had a flare of symptoms last more than a couple of weeks at a time since knowing about and understanding autonomic dysfunction, in comparison to months in the past.  The same is true when managing many elements of EDS and CMT.

When I think about just how many unnecessary pages have accumulated in my medical file over the last 30+ years it makes my chuckle, why did no one ever connected the dots?


So to give you a laugh here is a few of the things that it says on my notes…

  • ME – I was given this label when no one could explain why fatigue had lasted months.
  • Glandular like like illness – test for glandular fever can back negative but the fatigue stayed, it was most likely autonomic dysfunction.
  • Vertigo – this was dizziness on standing from autonomic dysfunction.
  • Panic attacks – I wasn’t panicking, I just couldn’t control my autonomic system.
  • Suspected pulmonary embolism and heart attack – I was rushed to hospital in an ambulance called by the GP, spent a night on the ward, I was failing to control my autonomic nervous system.
  • Suspected stroke – which the doctors scanned me for, it was just fatigue coupled with dysautonomia.
  • Suspected diabetes – reactive hypoglycemia which is often part of dysautonomia.
  • Cellulite – I was actually overusing my IT band because of my walking gait, causing dislocations of the knee, the bumps down the side of my legs were trigger points not cellulite.
  • No signs of neuropathy – this was clearly written on my notes when I had corrective foot surgery for a deformity caused by CMT associated neuropathy.
  • Tonsillitis germ attacking my hips – EDS pain stopping me walking, this has been a problem all my life as this hip can sublux as I walk, I have had three hospital stays for this totalling over a month.  I even did some of my A level exams on traction.
  • IBS – EDS and autonomic dysfunction affecting the bowel.
  • Dermatitis – Mast Cell Activation Disorder related to EDS.
  • Depression – I’m not depressed, no one believed I had chronic pain.
  • Hypermobile eardrums – random I know and not a mis-diagnosis as such but I have had many perforations and during tests the doctor said that my ear drums are hypermobile.
  • Hyperchondria – even when this has not been muttered out loud it is what the Doctors have been thinking, if a test doesn’t prove it then it must be in your head 😉 What is the funniest thing you have been misdiagnosed with in your search for answers?  I bet we can make this list a little longer….

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