Wednesday, November 29, 2006

Not Improved Enough

I just found a journal article I'd photocopied ages ago. It's titled Early Treatment of Menkes Disease With Parenteral Copper Histidine, and was published in 1998, in the American Journal of Medical Genetics, volume 76, pages 154-164.
Menkes Disease is an X-linked recessive condition in which the affected person, almost always a boy, has progressive neurological problems and bladder infections starting in infancy and dies before 3 years. It's because of problems with enzymes involved in using copper. I don't exactly understand how the condition works, but it's fatal.
In this study, they described four boys with Menkes Disease who received an experimental treatment, parenteral copper histidine. One died at 10 years old and the other three were still alive at 20, 18 and 10 years old. One scored as mildly delayed on an IQ and the others scored normal, but all four were slower to learn motor skills and some had other learning differences such as ADD and speech delays. All of them had varying problems with blood pressure, ranging from low blood pressure on standing with no symptoms to repeated fainting and crawling up stairs to prevent fainting. A couple of them used a tricycle thing preferentially over walking because they were less likely to faint. Clearly, they are much better off with this treatment, and just as clearly, they are not normal.
What really angers me about this article is the last paragraph in the discussion:

"However, enthusiasm about the use of copper-histidine treatment in second and subsequent affected males in MD families should be tempered by caution, since the residual abnormalities are quite substantial in all patients, and some of the connective tissue abnormalities may become more disabling later in life. At present, the treatment should still be regarded as experimental and not yet a serious alternative to prevention by early prenatal detection and termination of affected pregnancies for those who regard this approach as acceptable. Copper-histidine treatment is worthy of consideration for couples who cannot accept this approach."
In other words, they're improved, but not good enough to let them live. In the eyes of their doctor, those four boys/men were better off dead than even having that degree of disability. It makes me so angry. If one of the surviving men described here were to read this article, how would they feel to read that the life-saving treatment they received is not considered a serious alternative to preventing the birth of people like them?

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