National PKU Awareness Month

[nickinSTL]

(cross-posted in the Health forum)

PKU (phenylketonuria) is an inborn metabolic disorder. People with PKU lack a specific enzyme, phenylalanine hydroxylase (PAH), and are unable to metabolize the amino acid phenylalanine (phe).

Phe is found in foods with protein. Eating too much protein causes phe to build up in the brain, and in very young children can cause profound mental disability. In older children and adults, it can cause behavioral disorders, tremors and cognitive impairment.

In order to keep blood phe levels low, those with PKU must remain on a protein-restricted diet for life. Because the body requires protein, in conjunction with the low-protein diet, those with PKU must take an amino acid supplement which provides the amino acids that make up protein minus phe.

For many with PKU, this diet is severely restrictive and requires that they purchase expensive specialty low-protein pastas, breads and meat substitutes. These specialty foods and often the amino acid supplements are rarely covered by insurance and laws requiring provision of these medical necessities vary widely from state to state.

In recent years, there have been some advances in treatment, leading to the development of a medication called Kuvan, a synthetic enzyme co-factor, which can increase the body's ability to metabolize phe. However, Kuvan only works on a subset of the total population of those with PKU, which, incidentally amounts to 1 in 15000 births in the United States each year. Another treatment being developed is called PEG-PAL, which would be an enzyme replacement therapy, and if successful and safe should eliminate all dietary restrictions for those with PKU.


For more information:
National PKU Alliance: http://www.npkua.org /
National PKU News: http://www.pkunews.org /
PKU Organization of Illinois: http://www.pkuil.org/

[RainDog]

1. sorry, no sex threads in the lounge...

(just kidding... you had to be there... PUBLIC SERVICE announcements about national awareness months are good things, even when the topic is not sex.)

I remember when my first child was born. I was so worried about pku for some reason. (not just joking here.)

[nickinSTL]

2. Fortunately, having PKU is very treatable now

It can still be expensive (depending on the support in your state laws) and inconvenient, but those with PKU can have very normal lives.

If I was going to have a kid, the kid getting PKU would not be high on my list of concerns.

Having it myself, I have a pretty good idea what they'd be facing.

[RainDog]

3. my son has aspergers

but, honestly, he wouldn't be himself without all of who he is so it's not a big deal.

the only problem is when people don't know him - don't understand some of the ways he relates to people.

when he's talked to me about it, I've always reminded him that we all have something we have to deal with and his has a name.

he's involved in the "aspie" community online. that's a great thing about the web - people being able to share their mutual experiences and offer support for things that aren't a common part of everyone else's life.

[Bucky]

4. While it sounds like a very challenging condition to live with does it really deserve a whole month?

I mean, if they're gonna have a whole month for PKU Awareness, it seems to me they have an obligation to have a whole month's worth of activities planned--telethons, community education forums, children's theater workshops, outreach programs, special PKU displays at the local library... that sort of stuff. If it's just like printing up a couple of posters and mailing them out to clinics, I think an awareness week would suffice.

[nickinSTL]

5. there are a number of events, I guess

problem is, there aren't enough people with PKU to do a great job of the kind of outreach you're talking about.

There are events such as a number of walkathons and a bike across PA event.

It's a serious condition, but if 1 out of 15000 have it, and there are 300 million people in the US...you're only talking around 20000 in the entire country. That's well under 1% of the total population.

And when you take into account the different forms of PKU, and that those with the mildest form have little to no dietary restrictions, you have an even smaller population to be involved in raising awareness in a concerted way.

Saying that it doesn't deserve an entire month, essentially just because the population affected is small, seems rather dismissive.