Saturday, July 23, 2005

Can't just get a haircut

I finally got my hair cut today! 3 inches gone and finally some style, besides the pony tail or harried look I've been sporting lately.

It was a new stylist. We talked about our kids and pregnancies. I remarked about how he was so huge, I had problems breathing and ended up on some asthma inhalers during my pregnancy. Just small talk. Later during the conversation with the stylist I remarked about how I was still not getting much sleep. She countered that I needed to force him to a schedule. Just don't feed him at night. For some reason I just had to reply that he's had health issues so I can't.

Next thing she is guessing that the asthma medications I took during pregnancy must have caused it. When I said it was genetic, she asked then why my husband and I don't have it, or my daughter. She told me that they were probably saying it was genetic so that they wouldn't get in trouble for the medicines I took during my pregnancy. (Never mind that my ob/gyn and the pediatrician/neonatologists aren't connected so have no reason to cover for one another.)

You'd think I'd be upset by her words, but I'm not. I know she's wrong, just uneducated. She doesn't know about recessive genes. I'm a little ticked, but mainly I feel sorry for her.

This just proves my point that it always comes back to the mother. If something goes wrong, I must have done something to cause it. I think it comes to people wanting to separate themselves from bad things happening to them. It must be something I did or took or maybe the IVF or ICSI or my age. It can't be that sometimes bad things just happen to good people. There must have been something I did to deserve it, and as long as they don't do it, it won't happen to them.

Thus old wives tales are born. Don't raise your hands over your head while pregnant or you may strangle the baby with his cord. In this case, don't wear maternity pants that don't stay up or else your baby will get hirshsprungs.

Hey, something bad happened. I didn't cause it and I couldn't prevent it. And, it is so rare, it won't happen to you so don't worry. Actually, compared to the fact that he almost died, I feel pretty damn lucky just to have him. There are worse things than colostomies.

When I was pregnant with Jack, I had an amnio which came out normal and perfect. The two genes connected with HD were just found 3 years ago. They were discovered by a Johns Hopkins study on Old Mennonites (Amish - and no, we don't know of any in our families) who have a HD rate of 1 in 50 instead of 1 in 5000. HD is just not checked for in an amnio, and neither are many other things that are genetic.

If I'd known about it, I wouldn't have ended the pregnancy. I get unnerved when people connect amnios with terminations because amnios are really about deciding to know and be able to make choices. If I had known about the HD, I would have still kept him. The difference would have been that the doctors could have treated him starting at birth. He wouldn't have had to endure so much in his first 6 days. And I would have had plenty of time to learn about HD before his birth. My NICU experience would have been very different.

OR - and this is what I want from science - OR...
They discover it during the amnio or PGD or such, and because of stem cell research they are able to give him the ganglion cells he needs while still in utero to complete his system, so he's born with a fully functioning colon. HD would be fully treatable before birth. Heck, I'd take even after birth.

This won't help Jack, but I can't help but see some hope in stem cell research for babies born with HD.

Of course I'm not a doctor. I don't even play one on tv. What do I know, right? Except that I harbor some optimism that the future will be better for kids with HD, hopefully in my lifetime. I wish I had more ideas on how to get the stem cell researchers now gathering here in California to spend some of that fabulous tax money on using stem cells to fix HD. Anyone with ideas or experience?

9 Comments:

Anonymous Menita said...

Hear, hear.

9:02 AM  
Anonymous lisa said...

Ugh, why do people have to play expert and give assvice? Can't they just say, "I'm sorry to hear that" and leave it at that?

As far as getting money earmarked for specific research, you can contact your congresspeople and possibly the governator. If there's a support group for HD (or even one for similar genetic diseases) lobbying as a group would probably be more effective. Just some suggestions, not sure how helpful/feasible they are.

6:03 PM  
Anonymous Wrin said...

To be an ass:

there's a reason the Amish have a genetic disease rate of 1 in 50 instead of 1 in 5000.

It's the same for every other disease, too, like Down's, like Tetrology of Fallot, like all kinds of crap.

It's describable in one word.

Inbreeding.

Not because inbreeding is bad and God is trying to punish them and makes them bad parents blah blah blah, I'm sure they're just uneducated too. The issue is that inbreeding is the perfect way to negatively reinforce recessive genes like the ones that cause hirschprung's.

12:05 AM  
Anonymous Wrin said...

To be an ass:

there's a reason the Amish have a genetic disease rate of 1 in 50 instead of 1 in 5000.

It's the same for every other disease, too, like Down's, like Tetrology of Fallot, like all kinds of crap.

It's describable in one word.

Inbreeding.

Not because inbreeding is bad and God is trying to punish them and makes them bad parents blah blah blah, I'm sure they're just uneducated too. The issue is that inbreeding is the perfect way to negatively reinforce recessive genes like the ones that cause hirschprung's.

12:06 AM  
Anonymous Wrin said...

To be an ass:

there's a reason the Amish have a genetic disease rate of 1 in 50 instead of 1 in 5000.

It's the same for every other disease, too, like Down's, like Tetrology of Fallot, like all kinds of crap.

It's describable in one word.

Inbreeding.

Not because inbreeding is bad and God is trying to punish them and makes them bad parents blah blah blah, I'm sure they're just uneducated too. The issue is that inbreeding is the perfect way to negatively reinforce recessive genes like the ones that cause hirschprung's.

12:06 AM  
Anonymous Wrin said...

sorry for the triplepost.

12:07 AM  
Anonymous Robert Carnegie said...

And it kind of has to be your responsibility because you're the one right there. Unfortunately there isn't an designer's instruction manual for humans, or not one that tells you the things that matter, like "Why do I have gas today?"

Genes are genes, don't we each get around six new mutations that our parents didn't have (mostly in the background noise that doesn't do anything). You don't get many people born with important genes newly gone wrong. But those sneaky recessives...

Public science education doesn't have to be your 24/7 responsibility...

I haven't been persuaded about the effect of inbreeding (this doesn't apply to you?) and it seems to be so much taken for granted (like not raising your arms) that I wonder if it's really about looking down on racial minorities and rural communities and the Bush family and anyone you don't like (if you want to do that), dressed up in science-words. But it occurs to me I know where to find some actual biologists - there's a newsgroup on Usenet, talk.origins, although that's mostly for fights about evolution and the Bible. I do know that some other isolated communities have high rates of some genes with bad effects, but someone has to. And there are more non-Europeans, not necessarily isolated groups, with lactose intolerance - maybe because most anyone in Europe with lactose intolerance died of it before they had kids.

Blood groups... the magazine at the donor centre said every race has all the same blood groups, but in different ratios in the population. It probably isn't important (unless you worry about that), just interesting. I think it matters if you need a transplant.

Science should get around to fixing gene problems if we all live that long - you know, before world oil runs out and the sea rises and we fall to eating each other. But if you want to worry about they, consider how much medical research is bought by a few big drugs companies, who naturally want people to need drugs all their lives.

Currently reading... well, not, but I heard a radio interview; Danny Mardell is a British businessman who found it very hard to accept a son, also Danny, with Down's syndrome. But now he's written a book, "Danny's Challenge" - or a journalist wrote it from interviews; that's how that's done. He speaks well and frankly and I'm not sure that I like him, but perhaps that's the point.

5:38 AM  
Blogger Dee said...

Saw your pic at Flikr (did I get that right?) and I think you're gorgeous! Funny thing is that--like you--you look like someone I know in real life (the president of my local Resolve chapter--of which I'm the vice president).

And I don't think you have much to hide behind that sling--you and Jack make a mighty fine duo (and Janie's just as adorable!)!

Relish your beauty, my friend, you've got tons of it--and I can also see your joy in all of you!

7:26 AM  
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