Thursday, 1 March 2018

Rare Disease Day

After my post about the toothless kid last week I decided to use Rare Disease Day to post about my own rare disease (which is actually not very rare)
Then I missed Rare Disease Day because I was distracted. Oh well, it could still be rare disease day in your part of the world.

I have an inherited disease of the nervous system. My grandfather and my mum had it before me, my brother and I in my generation and my nephew in the next. In a miraculous stroke of fortune my kids escaped despite the 50 % chance of inheritance.

The short story is this disease (Charcot Marie Tooth or CMT) makes muscles atrophy and once that happens you are kinda up the poo-ey creek and not great at holding a paddle.

It effects about 1/ 2000 people so unless you are a hermit you would have met people who have it or know someone who knows someone.

I found and appropriated this list, people were asked to answer the question "you know you have CMT when......."

Not all of these things apply to me but most do and what doesn't is probably in my future:

  • You buy shampoo & conditioner based size & shape of the bottle, that is it’s grip-ability, squeeze-ability and ease of opening.
  • You buzz cut your hair so you don’t have to deal with it anymore because it’s too painful to wash/condition/cut/color/dry/style/etc anymore.
  • You give stairs the stink eye.
  • It takes you 15 mins to button one button on your top 
  • You look for aluminum cans with the pull tab because you can’t turn the can opener
  • You can’t wear high heels
  • You know what it’s like to always be the caboose when you’re in a group of people walking 
  • It takes you three times longer to do anything normal people do
  • Your toes don’t even touch the floor or work…they’re just decoration.
  • You look fairly normal but can’t get up a curb or off the floor without holding on to something
  • You fall over when standing still
  • When you try to hang out washing on a line – oh dear lol 
  • You can twist your ankle getting up from the toilet
  • You fall down and can’t get back up
  • You can’t walk on grass
  • or a beach or any ground slightly uneven
  • or on rocks/gravel
  • or on flat ground
  • You open almost everything with your teeth 
  • Tying shoe laces is a ten minute operation
  • Texting is one finger only – your best finger!
  • You have to buy new dishes once a week
  • you fist bump rather than shake hands
  • Wearing earings with butterfly backings are a thing of the past
  • When the aide on the school bus has to finish dressing your daughter because Mommy’s hands don’t work today.
  • Your cat jumps out of the way when you step near by
  • Your 7 year old paints your nails and your 3 year old buttons your shirt for you.
  • when you can no longer sneak up on people
  • Putting a key in a door needs serious concentration 
  • when your superfan son wants to be an extra on The Walking Dead because his natural walk is so zombie
  • You walk extra steps to find the shorter part of the curb, even if it’s only a few millimeters shorter.
  • You smile sweetly at the parents of young children mimicking the way you walk
  • You love animals because they don’t judge you
  • You would fail a sobriety test without drinking a drop of alcohol 
  • muscle twitching keeps you awake and/or you wake up with charlie horses
  • When falling down becomes a hobby.
  • You are amazed when you see someone fly down stairs without holding on to the rails.
  • When falling up the stairs becomes a hobby
  • when it stuns you everytime you realize you can’t do something anymore (run, hop, button, skateboard, wear heels)
  • When your hubster and kids are really not surprised when you fall over and they stop asking where the massive bruising on your legs just randomly appear from just the slightest knock
  • You tell someone you have cmt and people ask what’s wrong with your teeth
  • When you try to jump rope and quickly realize that ship has sailed.
  • Picking up a pint glass requires two hands. 

I have  more to say but i don't have the heart for it today.........


  1. I know you would bear this with gratitude your children are not affected. I read about it on Wikipedia. I have two rare diseases...lucky me. But, they are not visible. Do you think you lack of certain abilities causes people to not hire you as a doula?

    1. Your last point, if brutal, is actual a good one.


    2. It has impacted my ability to gain other employment and employers have even told me so without any hint of shame. I was enjoying postpartum doula work but I have had to give that up due to the fact that I am never sure if I will be able to access a client's home.
      As for birth work, I am not sure. I don't mention it because I don't want to tempt fate and also because my ability to offer quality support is not related to my mobility. Having said that, I am sure there would be those who would be put off by any hint of anything unusual.

  2. I am reading this list and thinking ditto arthritis!

    1. It has a lot of the same effects on fine motor skills but it is less painful. I don't think arthritis sufferers live in constant fear of falling

    2. Not everyone would view compassion for other's suffering as something they want to develop. It says something about you that you would mention it as a positive

    3. gosh, I did it again. Snows comment:

      I don't live in fear of falling from arthritis but from aging. I remember how unsteady and easily turned-around my father would get. He would obviously be struggling just to stay on his feet and get going in the right direction. Now I see myself doing the same, and I know it will get a lot worse. Still, I go up ladders and clean my gutters even while wondering if I will someday die from falling off the roof. I don't think it fair to equate osteoarthritis with what you have, but there are enough similarities that, suffering as I do, I can better understand your suffering. You wrote below a photo of you daughter and her boyfriend something about her looking so good so easily, and I thought, yes, that's true of people who are young and healthy, but there is a downside to it, and the downside is that only suffering brings a deeply felt understanding of the suffering of others. Of course, it can also make a person isolated and self-focused and therefore less caring about the suffering of others.

  3. Sounds, I don't know, let's use British understatement (always useful in a crisis), not so good. Let's not beat about the bush: Whilst not terminal your predicament sure sounds like one of my many ideas of hell.

    Whilst not a hermit as you suggest I don't know anyone with that particular neurological aberration. Did look it up in the wake of your post and, well ... bloody hell. I had no idea. You have been "hiding" it well, at least on the page. I literally thought of you as one of those bouncing around south of the equator type people. Which you are, in spirit if not in body.

    You know one of my shortcomings? Despite my imagination, a never to be exhausted supply of both empathy and tissues, I am the living embodiment of "if you don't have walked several miles in another's shoes you don't know anything". And I don't. The best I can do, is acknowledge your, or anyone's, plight. A bit like what you mentioned in your last post, apropos other people's grief and being at a loss how best to deal with it.

    If I lived round the corner I'd come and button you up. But not before I'd lined up all the buttons top to bottom first so I wouldn't have to start again.

    Mega hug,

    1. I think of myself as a bouncing around type so it's maddening that the body lets me down. The employment issues and ever reducing independence make it tough, just when I have raised my kids and should be developing a life of my own I'm not really able to.
      I can actually do buttons most of the time, the ones on jeans can be hard to deal with, not because of the button itself but because the fabric to push over the button is thick and requires some strength but I appreciate your offer!
      As for buttoning up crooked, well after I once went to work with my shirt inside out, I can't really do anything more eccentric!

  4. Wow, I had no idea about all those things you've listed. It must take so much patience and determination to deal with all those everyday actions that others like me take totally for granted.

    1. Actually Nick, that's about 10% of it. I only used half the lst and the list didn't cover it all. Tonight I hit a new low when I had to get the service station attendant to help me out the door after paying for petrol. Gah

  5. I've never heard of this terrible condition. That's a long list of possible problems and they're all critical.

    1. it's more common than MS but people are less aware of it

  6. I am sorry to hear about your condition. I however admire you for the way you have handled it including talking about it here in this post.

  7. I had heard of this disease but didn't know what it involved. It's good that you are helping make other people more aware.

    And now I understand how you were so very able to understand (previous post) about grieving the loss of health. Experience, unfortunately. Hugs, my friend.

  8. I had never heard of CMT before Kylie. Thanks for educating me. CMT sounds like a difficult and rather frustrating roommate.

    1. If it was a room mate I would evict it!

  9. If you knew your kids had a 50/50 chance of having this disease and then passing it along to their kids and their kids, and then their kids, why did you have kids? I don't get it. I simply don't. I mean life is hard enough without having to worry about breaking your ankle in getting off the toilet. I'm 69 and have numerous of musculoskeletal problems due to age, breaking my back, possibly heredity, possibly depression, and to the various kinds of work I've done that I had no idea would leave me in this shape; and I often wonder if I would choose to live in this condition if I didn't have Peggy and the cats to think of. As it is, I take so many drugs, and I drink so much that I know I'm shortening my life. So, Kylie, to read about someone like you who is in far worse shape than I, and to know that you had children when you could have adopted, I don't get it. On the one hand, I care about you and am sympathetic to your suffering, but on the other hand, what you have, and chose to pass on, is such a nightmare. What if your kids did have it, would they be mad at you, do you think, and could you say that their anger was unjustified? Are you mad at your parents? I've read the comments to see if others felt the very (to me) obvious feeling that I do about this, and either they didn't, or they chose not to say so, but you know me--I say what I feel even when I hate doing it because I don't know what else to do except to draw back, and I don't want to do that.

    1. It's a reasonable question to ask, Snow and others are probably wondering but didn't dare ask.
      When I was of the age to make that decision I was not so different to "normal" and even though I had seen the disease effect my mum, I didn't really comprehend what the future looked like. I didn't comprehend how quickly the time would pass and take me from living a normal life to living ...well, differently. And I had no idea that the disease would progress faster in my case than in mum's. I didn't really have an appreciation of what I was doing.
      I did think about it enough to hope that statistics were on my side and only 50% of my children were effected, I also thought I would limit my children to 2. As it turned out, my best intentions didn't work out that way.

      If I was to live my life again, I would most likely make different choices. I now have a better idea of just what I would pass on and I know the agony it would cause me to know I had done that.

      Am I mad at my parents? no. Mum didn't even know that her "clumsiness" was a diagnosable condition so she had no way of making that decision.

      Never draw away, your questions probably do the job for others and it won't kill me to face the tough stuff.

      Reading my response to you, I feel it is weak. All I can say is I probably didn't think enough but I also only had part of the picture.

      I would not wish this on anyone but I must say that the limitations of my body are made so much worse by people who make no attempt to equalise things.

      Currently I can't get in and out of my own home unassisted because my husband doesn't see the need of hand rails on the steps (and I can't afford them)
      I live in terror of slipping on a rag left on the floor because the convenience of a rag to wipe up spills or dry wet feet is more important than consideration.
      The employers who wouldn't even give me a job as a receptionist because they arrogantly want their front line chair sitter and phone answerer to be physically able.
      Then there was the time I mentioned difficulty of access to a church building and was told that it was perfectly accessible (tell that to the people who didn't attend)
      Or there's the person who I told "i really don't walk much these days" and who said "it's only a block"

    2. You might also have bystanders wondering if you're drunk. Bill Nye's siblings have an inheritable disease called ataxia, which makes them walk like they're far gone in their cups. I'm astounded at what people put up with and still choose to live, and I'm astounded that your husband is so callous. I would expect it of clueless strangers and even your idiot chiropractor, but your husband! I haven't run into the kinds of reactions you have because my problem are not usually obvious. It was true, though, that when I broke my back and had to wear a large, hard, shiny plastic and aluminum brace, a stranger in a store seemed offended because I wasn't wearing it under my clothes as she thought I should. It was as if, in her mind, I was being indecent by wearing MY brace in the way that worked best for ME. Peggy is not callous, but although she would do anything I asked her to do to help when I had that knee replacement last August, if it had been she who had had the surgery, there would have been little she needed to ask because I'm so observant of other people and their needs. For instance, when she washes her hands in the kitchen sink, I automatically hand her a towel, but it took years before it occurred to her that she might do the same for me. We're just different people that way. If I didn't hate rich people, I would have made some rich man a good valet or perhaps a butler, and the older I get, the more I notice things. For instance, until a few years ago, I had no idea how people have something wrong with them that makes them walk unnaturally. The problem might be subtle, but because I study such things, I see it. Life is more interesting to the observant. The strange thing to me about Peggy was that she was a nurse, and I'm sure she was prudent and conscientious nurse who did well under pressure, but based upon how she is at home, I don't think she was an intuitive nurse, but I doubt that many are, nurses being people who are obliged to work hard and fast and spend as little time with a given patient as possible, and this is the more true of those who work in the specialty fields that she chose.

      Your explanation made perfect sense to me, and I had even wondered if it was the case. We all learn, and we all change, in some ways for the better and in some ways for the worse, or perhaps I speak too much for myself. I do think that mine was an obvious question, but I also think that the main goal of my most bloggers is simply to get along without causing or responding to stress whether on their blogs or on other people's blogs, and to me this gives blogging a superficiality. My goal is to really say, and to really know, what's going on with people. All Consuming tells me that I'm tactless, but I don't know how to do things better given what my goals are. Anytime that you do a post that's this significant regarding who you are, don't let me miss it. I get overwhelmed at times, and I miss things, a lot of things. If you hadn't referred to this post in your latest post, I wouldn't have known about it, and that would been terrible.


    3. A very dear friend of mine always said I could ask anything so long as I respected his right not to answer. I think that's a good rule and I apply it to you.
      I can stagger as though I'm drunk although I think an observant person would realise that it's not a typical drunk stagger. I often stumble and say I need to stop drinking which isn't very funny but I say it anyway :)

      Having watched some stoushes in blogland and watched even more mindless agreement (I can't think of the word I really want) I do think most just want to be blandly friendly. Those who dare to disagree can be labelled rude just for thinking

    4. Stoushes? I had to look that up. "Blandly friendly." Yes, that's an apt description. I don't know if it's truer of one gender over the other, one age group over another. Etc. I just know that I like disagreement as long as it's respectful of the person, as opposed to the argument, the latter being more than I can sometimes give.


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