28 December 2007

Rare diseases bringing parents together

Searching for Similar Diagnosis Through DNA(New York Times)
How to save your own child(CNN)

While these articles have different focuses, they are talking about the same movement. The NYT article focuses on children with rare, newly specified genetic disorders that have previously been enveloped under umbrella terms such as autism and mental retardation. The CNN article is focusing on the parents of children with rare disorders banning together to raise money so that research can be funded.

The common thread is that people with children suffering from rare disorders and diseases are finding each other. They are making a community that can support its members in a very specific way.

But the two families are not related, and would never have met save for an unusual bond: a few months earlier, a newly available DNA test revealed that Samantha and Taygen share an identical nick in the short arm of their 16th chromosomes.

The NYT article starts with two girls that look enough alike to be sisters, but that is due to the same genetic quirk. The article is full of stories about groups of families of children with the same genetic change. Some of the mutations have as few as 11 known examples. The families have come together to support one another through the problems. Families with older children are able to give those with younger children a heads up about what might happen in the next few years.

The parents in the CNN article are doing more than supporting each other, they are raising money to try to fund research into the diseases their children have developed. Rare juvenile diseases, such as the brain tumor called Juvenile Pilocytic Astrocytoma that is mentioned in the article, are much less likely to be the focus of the pharmaceutical companies' money. They would rather come up with drugs to help all the aging seniors be able to hold it in till they can get to a bathroom, since that is a vastly larger customer base.

Sometimes Witt gets frustrated that parents have to sell cookies, or hold golf tournaments, to fund medical research. "It's totally sad. It's ridiculous. It makes me mad," she says. "But I can't get wrapped up in that or I won't get anywhere."

The CNN article comes down to money and the way those who save our health are repaid for it. How we pay doctors, how we pay researchers, how we pay for the manufacture of the medicine we need; sometimes it feel manipulative since not getting the health care we need is often an unthinkable option.

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