Diagnose a lifelong illness

July 3, 2007 2:13 PM

Want to help diagnose my lifelong illness?

I couldn't walk until I was four. Until then I had leg-irons, and it was assumed I'd never walk unaided. The doctor's best theory was polio, or perhaps being starved of oxygen in the womb, but they just didn't know.

Once I started walking, childhood was normal, although I was never a sportsman. I've still got some physical oddities, namely thin wrists and ankles (I'm a guy but my wrists are as thin as most womens'). Although I've got some fat on my bones, my arms are like those of a skinny guy. I can't crouch because my knees won't let me, and my kneecaps dislocate quite easily. My legs sometimes shake if I work them too much, but my thighs are like tree-trunks. They're probably the only place I have visible muscles.

Weirdly, I could sprint quite fast as a kid (my only sporting thing). I also enjoy hiking, although I'm very clumsy when doing it.

One day I intend to ask the doctor about this, but the records are old, and this is also a sore point for my parents (it was a difficult time).

I'd really like to know what this is (well, was), and if there's a risk it will infect any children I have. Nobody else in my family has this problem.

posted by deeper red to health & fitness (13 comments total)

That should read:

"... if there's a risk it will affect any children I have."
posted by deeper red at 2:18 PM on July 3, 2007

You could consider finding a genetic counselor. They can do some genetic screening to see if what ails you is genetic in nature and can be passed onto children.
posted by lockle at 2:42 PM on July 3, 2007 [1 favorite has favorites]

I'd ask a doctor about this as suggested above, realistically an internet diagnosis is going to get you anywhere. A doctor should be able to talk to you about this, diagnose and let you know if it's a genetic or environmental illness.
posted by iamabot at 2:43 PM on July 3, 2007

Ehlers-Danlos syndrome?
posted by Soda-Da at 3:20 PM on July 3, 2007

that's what i was thinking, although it's not quite consistent. you can read about it here.

definitely talk to a doctor, though--those knees could be real problem spots as you age.
posted by thinkingwoman at 3:50 PM on July 3, 2007

Yeah, I thought perhaps Ehlers-Danlos, too, or possibly Marfan syndrome or one of its related disorders. But again, only a doctor can actually answer this question.
posted by scody at 4:03 PM on July 3, 2007

You could talk to a doctor, or a genetic counselor, but I can't help but wonder if, as horrible as it sounds, you just didn't thrive in the womb, and have struggled to do so outside of it?

As is the case with an uncle of mine, who as a child (one of 6) was small, frail and prone to illness, you could just be what we might refer to as a runt, were you a cat or a pig. I mean this in no way to diminish you as a person, only to posit that There may be no identifiable cause.

Communication difficulty aside, have you talked to your mother about what she ate or drank or did during her pregancy? Was she sick? Was the pregnancy abnormal?
posted by M.C. Lo-Carb! at 4:09 PM on July 3, 2007

I'd be very careful about asking your mother if she fucked up when she was pregnant with you. I know that's not how you'd phrase it, but unless she's a cold fish she probably obsessed over what she "did wrong" when she was pregnant with you. Talk to a genetic counselor and see what info you need to get from your parents before sounding them out.
posted by BrotherCaine at 4:23 PM on July 3, 2007

It is possible that it could be the lifelong effects of a childhood nutritional deficiency. It happens even in developed countries.
posted by melissam at 6:48 PM on July 3, 2007

you just didn't thrive in the womb, and have struggled to do so outside of it? ... you could just be what we might refer to as a runt

Heh. I was a healthy and very large baby boy when I eventually made it out. I looked normal and acted normal at that stage. I just didn't take to walking until I was four.

I'm not prone to illnesses, and never have been. In fact, I had fewer childhood illnesses than most kids.

Looking at me now, you'd think I was just a slightly fat example of the male species. I'm 6ft tall. Look closely, however, and you'll see slightly disproportionately thin arms, wrists and ankles. No big deal. Just unusual.

I'd be very careful about asking your mother if she fucked up when she was pregnant with you.

Eloquently put but, yes, this is a sore point. As you can imagine, my parents had a difficult few years. I wasn't progressing normally and the doctors didn't know why. On a few occasions it was suggested I was taken away for observation, at which point my mother freaked out.

It is possible that it could be the lifelong effects of a childhood nutritional deficiency.

I was a fussy eater as a child but, if anything, it's been the opposite of what you describe. I started out weak and rapidly got stronger as I got older. My mother ate the typical western diet when she was pregnant, and my sister came out perfectly OK.

So... We've got something that's stumped the IANAD crowd of MeFites. That in itself is interesting, because I had anticipated at least one other saying, "I had this when I was a kid!".
posted by humblepigeon at 1:15 AM on July 4, 2007

Apologies, I missed some earlier messages.

Ehlers-Danlos: As mentioned by the person who suggested it, I don't tick enough of the boxes. The Kyphoscoliosis version sounds similar in some ways, but not in other important ways.

Marfan Syndrome: Again, I tick some boxes, but not other important ones. My bones aren't elongated and I'm not lanky (I'm just under 6ft). The last time the doctor listened to my heart he declared healthy and strong heart sounds. Yet some elements are intriguing. I have weird stretch marks on my belly, which came from nowhere 10 years ago, and have always had a slight speech impediment. I'll keep looking into this, so thanks.
posted by humblepigeon at 1:49 AM on July 4, 2007

Random stab in the dark: Charcot Marie Tooth?
I don't think the delayed walking is usual with CMT, but the rest of your description reminds me of someone I know who has CMT.
posted by goshling at 2:56 AM on July 4, 2007

There are different kinds of polio. Wilma Rudolph triumphed over hers and became an Olympian.
posted by Carol Anne at 5:26 AM on July 4, 2007