father of the year
August 26, 2003 6:51 AM   Subscribe

Two of his children dying from a rare genetic disorder, Dad -- with no science background whatever -- starts a biotech company for the sole purpose of developing a drug that will cure them. Heartrending conflicts ensue. "Many times, I'd be talking aloud about programs and budgets, and at the back of my mind be thinking, 'Oh my God, this is not good for Megan and Patrick.' "
posted by stupidsexyFlanders (25 comments total)
You've just got to hate the FDA.
posted by pjdoland at 7:04 AM on August 26, 2003

Didn't seem to have a lot to do with the FDA, more so with the company and the way hospitals do clinical trials.
posted by agregoli at 7:41 AM on August 26, 2003

This is one case in which nepotism was totally justified - without Crowley, there would not have been a drug to test.
posted by orange swan at 7:42 AM on August 26, 2003

The trustees of that hospital really need to look up the definition of "conflict of interest."

Maybe the one I wrote on the end of this clue-bat.
posted by Blue Stone at 7:49 AM on August 26, 2003

A disease that affects 10,000 people worldwide, and he has 2 kids that have it? Wow. Those are some crazy odds there. I wonder which parent brought that to table.

I think he should have worked it in to the deal when he sold the company. My kids are at the front of the line. Conflict of interest? Why not? Like Orange Swan said, without his efforts, they wouldn't have anything to test. He, and his kids, deserve the chance that his efforts produced.
posted by a3matrix at 8:47 AM on August 26, 2003

A disease that affects 10,000 people worldwide, and he has 2 kids that have it? Wow.

As with most rare genetic diseases, if one child has it already, all the other children of the couple have a 25% chance of getting it as well, since the disease will be caried on recessive genes and only appears when two recessive copies are present.
posted by jmauro at 9:12 AM on August 26, 2003

As a father of three, reading a story like this always makes me feel the fickle hand of fate just waiting in the wings.

I couldn't read the last paragraph without blurry vision. My own little girl is only 8 months old, now. Thank [any and every diety] that she's healthy.
posted by thanotopsis at 9:18 AM on August 26, 2003

Gods, that's just hearbreaking.

I couldn't read the last paragraph without blurry vision. My own little girl is only 8 months old, now. Thank [any and every diety] that she's healthy.

Agreed, my son is also 8 months old...and not a day passes that I don't thank the heavens that he's a healthy happy baby.
posted by dejah420 at 9:26 AM on August 26, 2003

Genetics can be a real crap shoot. My aunt and uncle had a little boy who was disagnosed soon after birth with a disease similar to leukemia - this was 40 years ago, and the child was doomed. My aunt asked her doctor if it was safe to have another child, he said the chances were one in 100,000 that they'd have another child with the same affliction. Well, they had baby number two, and he had it too. Both little boys died within six months of each other - the oldest was was 3, the other 11 months old.
posted by orange swan at 9:30 AM on August 26, 2003

jmauro: Check your genetics, those numbers are not always correct. Your assumption is based upon a single gene causing the phenotype (physical expression) of the disease. What if there are two, three or more genes working in unison to cause the specific phenotype?

Now that I'm done nit picking, in fact Pompe's disease is, in fact, caused by a mutation in in the gene coding for alpha-glucosidase and your assumption is correct, all children of these two parents have a 25% chance of inhereiting the disease from the parents, both of whom are carriers of the mutated alpha-glucosidase gene.

See the Pompe's Disease page for more info.

Orange Swan, genetics is never a crap shoot, its statistical. Unfortunately its not always clear what the relationship between a certain genotype (genetic makeup) and the phenotype is which, I suspect, is the reason behind your aunt and uncle's experiences,
posted by FullFrontalNerdity at 9:36 AM on August 26, 2003

Speaking as someone who hates even the very concept of children with violent passion, this is still a damned heartbreaking story.
posted by Ryvar at 9:38 AM on August 26, 2003

Ryvar-- that's an entirely healthy, non-psychotic, non-sociopathic outlook. Keep it up.
posted by xmutex at 10:10 AM on August 26, 2003

Orange Swan, genetics is never a crap shoot, its statistical.

Statistical? You mean, it's a lot like shooting craps?
posted by kindall at 10:17 AM on August 26, 2003

Yeah, I'd agree it's a crapshoot. My older sister was born healthy as can be and still is. I was born with Cystic Fibrosis. Bam, bad luck shone on me that day.

My friends had a kid that was born with CF. They tried again and got another one with CF. Bam, double-bad luck. Could have just as easily happened to my parents.

I'm pregnant now and we won't have a kid with CF (as far as they can tell, my husband isn't a carrier of the gene.) But it's still scary..what is out there that I don't know about?

Statistics or crap shoot-it still sucks and is scary how little control you have over anything when it comes to health.
posted by aacheson at 10:42 AM on August 26, 2003

What amazes me is that people would try again after having one child with a horrible disease.
posted by agregoli at 11:10 AM on August 26, 2003

In my aunt's place I would have tried a second time too - 1 in 100,000 is pretty good odds. My father's other sister had one child die of the same disease - but in her case, that was one child out of eight - the other seven were healthy and she was rewarded by trying again, and again, etc. But my aunt with the two sick children didn't try a third time. They adopted two children instead.
posted by orange swan at 11:45 AM on August 26, 2003

1 in 100,000 is not good odds to me. I would have adopted immediately instead of trying again. But everyone's different. I just think it's cruel to everyone involved if the next child has the same disease. Once you might have had no idea, but twice you knew the possibility was there.
posted by agregoli at 11:57 AM on August 26, 2003

I think the odds in general of giving birth to a child that is sick or deformed is probably quite a bit higher than 1 in 100,000, and most of us go ahead anyway. Of course it is different when you have something specific to fear, but I still think in my aunt's case I would have looked at my sister with her passel of healthy children and taken the doctor's assurances.
posted by orange swan at 12:13 PM on August 26, 2003

What amazes me is that people would try again after having one child with a horrible disease.

By the way, the couple in the story already had given birth to their 3rd child when the 2nd (and as a result, the 3rd) was diagnosed with Pompe disease.

What a heartbreaking story...beautifully told.
posted by jennak at 12:53 PM on August 26, 2003

What's cruel is that the odds of a child being born to an abusive, negligent or just uninterested parent are a hell of a lot higher than 1 in 100,000. /nonsequiter
posted by stupidsexyFlanders at 12:57 PM on August 26, 2003

I'm not a father, but I hope to be one some day. This story wrenches my gut. The decisions he had to make in the search for the medicine for his children are enormous. His story of both sides of the battle: daily battle for his children and anonymous decisions of the company. It's a wonder it didn't break up his marriage...and his head.
posted by xtian at 1:00 PM on August 26, 2003

I hate to admit it, but that story left me teary-eyed.

It just brings back the memories of my mother's last years, when all members of my family committed themselves to doing everything that we could think to do to cure her cancer, and to make her life more comfortable and more joyous. That desperate desire to try to find something to do is unstoppable, and it's wonderful that in this case that desire may result in thousands of saved lives.
posted by mosch at 1:50 PM on August 26, 2003

My parents stopped after me. They weren't going to risk another kid with CF.

Personally, I was really angry with my friends who tried again knowing the chances of the kid having CF. They even found out way early on before the child was born and still went through with it all. Of course, it's their choice. But I don't think they do anyone any favors by having another sick kid, ESPECIALLY the sick kid. I would NEVER have tried for kids if my husband was a CF carrier. I would never ever inflict this disease on anyone if I could avoid it. They said "oh well, having two with CF isn't much worse than one with CF." WHAT? YEah, except the kid is sick as hell for their entire short life, unless they're incredibly lucky like me and have a very mild case (which is very very rare.)

It's so awful. You just want the kids to be healthy and happy and independent and this stuff is just awful.
posted by aacheson at 2:39 PM on August 26, 2003

"Can you blame the guy for trying?" Mr. Termeer, Genzyme's CEO, says. "But in the end, we had the systems in place to rein him in."

who wants to bet his heart bleeds a black, thick oil-like substance?

it's sad, but damn. Crowley should have known to assert control over that, or make sure it would happen how he needed it to... his interest was his kids, and the investors and later board members concern was obviously money. what a sad, sad story.
posted by shadow45 at 3:22 PM on August 26, 2003

I'd just like to be pedantic and point out that 1/100,000 is an outrageously small chance of anything happening.

You have better than a 240/1,000,000 chance of dying in a fiery car crash in the next decade. That's 1/4166. And, you have about a 1.4% chance of dying in a car over your lifetime. That's 7 in 500.

Is that going to stop you from getting in your car tomorrow?
posted by bshort at 3:52 PM on August 26, 2003

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