Sunday, November 19, 2006


Posted by Kate of Because I Said So.

If you'd like to use this space to tell stories/secrets/confessions of your dangerous maternal mind, anonymously or otherwise, send me an e-mail (see sidebar) and you too can enjoy the refuge of the Basement.


The longer I have a blog, the more aware I am of my limitations in posting based on my audience. I have to be careful and political about when and how I mention my husband... too many days in a row of bitching makes him cranky and defensive. I go easy on comments about
the sex life, because in my heart of hearts I know that most of my readers are large hairy sweaty men who breathe heavy and salivate a lot (not YOU, of course, but some of those other people...). And I don't talk about one thing that presses on my heart on a daily basis,
because... well, just listen.

My sister Mary is 15. She is smart, and funny, and precious, and I just love her to pieces. We all do. Kids love her, babies love her, dogs love her. She's not sweet in a fake-cute-bubbly sort of way, she's just observant and insightful and witty, and when she is sarcastic it's well-aimed and deserved. She thinks a lot, and is one of those rare people who actually seems to think before she speaks.

She has muscular dystrophy, and at 15 she is, in all likelihood, already past middle-aged.

Her form of the disease, nemaline myopathy, is incredibly rare. Back in 1992, when she was diagnosed (a process which, by itself, took 14 months), she was the hundredth reported case, ever. Worldwide. That's not to say that she's the 100th person to ever have it; most infants born with it die before they can be diagnosed. In fact, we believe that this is why my father's brother died in infancy, but there's no way to verify.

When Mary was born, some idiot in the guise of a doctor told my parents that they should look into supportive housing for her, "Just put her away somewhere. She'll never walk or talk anyway." I'm still impressed that my mother didn't bludgeon him to death with the examining table. She walks now, albeit with braces, and talks, albeit quietly and sort of nasally, and has enriched the lives of so many people.

For several years, I was able to sort of brush aside that nagging awareness that most people with the infantile form, those that survive infancy, have a sort of plateau through most of their childhood. Essentially, what her illness does is create an extra protein throughout all of her muscles, acting a bit like static on a radio station - the muscles still work, but the protein gets in the way. While she's still growing, the healthy muscle tissue can keep up with the proteins, and she's remaining relatively healthy. Prone to pneumonia, prone to broken bones because she falls easily and can't catch herself, but living at home and going to school and going to vacations and fighting with our mother... as normal a life as anyone could ask for.

But someday she will stop growing. Someday her muscles and body will be essentially as formed as they can be, and those damn nemaline rods will start to take over. Most people with this disease are in wheelchairs by the time they're 20. Most have succumbed to pneumonia, because their lungs simply aren't strong enough to clear themselves, by 22.


I don't know how to talk about this. I don't know how to deal with it. She and I have talked before, and she's so well-adjusted that I kind of want to pinch her, sometimes. I asked her once if she ever wishes her disease away, and she said, "Well, not really. This is my life, it's what's normal for me. If I didn't have it, I wouldn't have gone on the trip to Disney World. I wouldn't have the same friends I have. Everything would be different." (The Children's Wish
Foundation - like Make A Wish but for kids with long-term, rather than terminal, illnesses - sent our family on an all-expenses-paid trip to Florida in 1998.)

Her perspective is healthy and good, but you know what? *I* wish it away. I wish it away every day. I want her healthy. I want her to be old. I want her to make all of the stupid college mistakes that I made. I want my children to introduce her to their children.

And I can't post about her on my blog, because she reads my blog every day, and I don't want her to realize the extent to which I think about this. I want her to feel normal and happy, whatever that means, and I don't want to make her self-conscious. Enough common acquaintances read my blog that I would feel I was invading her privacy if I took it there.

I don't need advice on this one. There's nothing I feel like I need to DO. Just needed to vent.



Unknown said...

Thank you for sharing (or venting).

ewe are here said...

No advice. I just want to say that while you obviously feel you're lucky to have such a wonderful sister, --it shines through your post,-- she's just as lucky to have you as a sister.

motherbumper said...

And that is why we are here, to listen and allow for the all important venting. She is lucky to have you for a sister and I hope this outlet helps even if it's just a little bit.

Redneck Mommy said...

Beautiful post.

The value you find in your sister is the very reason my husband and I are adopting another child with disabilities.

I don't yet know what my child will suffer from. But I do know that the love and the bond between family members who live with and through long-term illness, disease and handicaps, forges a family with it's fire of love.

I hope your sister has a spectacular life, even if it is short. I pray that she has peace and no pain, in the end.

And I hope that you find strength to deal with the future.

Thank you for sharing your story.

Anonymous said...

I suppose I can understand how she feels - this is how life has always been for her, so she can't conceive of it being different. Possibly how we might feel if we were born blind or deaf - we don't know what we could have had under different circumstances.

She sounds like a wonderful person, and I can imagine that if I were in your position, I'd be consumed with similar thoughts too.

I'm glad you were able to share with us.

Annie, The Evil Queen said...

Your sister is lucky to have such wonderful support and love from you. Come vent in the basement any time. I'll save a beanbag chair for you.

moplans said...

Your sister sounds like such an amazing person.
I wish I had such an attitude in the face of adversity. It is very admirable.
Thanks for sharing your story.

Mocha said...

Your sister sounds marvelous! You wrote about her lovingly and eloquently. It was so kind of you to share it with us.

Gina said...

She is blessed to have a sister like you. There is a lot of love and concern here. I appreciate you sharing her story, your story.

Kate said...

Thanks, everyone. Like I said, this is something that's been brewing in my head for a while but I don't feel right posting it on my blog. I appreciate having somewhere else to put it!!

kittenpie said...

i have so much respect for your concern over not making her feel funny by talking about it where she will read it, even though you need to talk about it and it's your space. That unselfish and respectful attitude says to me that you and your family must have a lot to do with her enjoying her life as she does. My hat is off to you for being the best sister you can be.

Heavy Early said...

Hi there - I stumbled across your blog almost by chance.
It sounds like you are dealing with things as well as anyone can.
My daughter has nemaline myopathy (and we also live in Toronto) and so I wanted to clarify something.
Nemaline myopathy is not the same as muscular dystrophy, nor is it a form of muscular dystrophy.
A dystrophy constantly gets worse and a myopathy does not. SO if she has a NM, there should not be a direct effect on lifespan though it is true that there is increased succeptibility to pneumonia etc., as you mentioned.
It took several months to diagnose my daughter as well though it sounds like things have come a ways since 1992.
It's still rare (about 1 in 50,000) but I don't think it's still true that "most infants born with it die before they can be diagnosed."
What you've been told - that the disease takes over and she can be expected succumb by the age of 22 - does not gel with what we have been told, nor with what is true of myopathies in general.
I hope things work out for all of you.
Anyway - all the best.
Oh, and if you are unaware of it, there is a wonderful website and support group for people with NM at:

Heavy Early