My Son Is Not Your Guinea Pig

Everybody wants my son’s cerebrospinal fluid.

My 20-year-old son, Lou, has Angelman syndrome from a deletion of genes on his maternal 15th chromosome. The lack of those genes makes it hard for Lou’s brain to understand abstract concepts, such as waiting in line to buy ice cream that he can clearly see is available behind the counter, or the need to charge an iPad when he wants to watch movies right now.

Missing those genes also makes it difficult for Lou to brush his own teeth, zip his own jeans, and microwave his own macaroni and cheese, and it makes him profoundly unable to speak. Those missing genes prevent Lou from being independent in the most basic parts of daily life.

Science on rodents has shown that it might be possible to help Lou gain some of these skills, even at his adult age, by activating his dormant paternal chromosome. Many researchers are working on this problem and racing one another, because it is a genetic disorder of cognition that might be curable. Big Pharma jumped in a few years ago, and now the industry also is competing to fix the unfixable, illuminate the dark, and un-silence the silent.

But to do this, the world needs Lou’s cerebrospinal fluid (CSF) and that of other people with Angelman syndrome. He will have to get a lumbar puncture, the dreaded spinal tap, just to donate a sample of the precious fluid that bathes his brain. Lou won’t be able to hold still, so he will need to undergo anesthesia for the procedure, and anesthesia also is not without risks.

Will Lou get anything for his donation of CSF? Nothing at all. He’ll just be a guinea pig for Big Pharma, and Big Pharma will make a profit someday from the therapy it develops to treat Lou’s disorder. Horrible, greedy, Big Pharma needs my son’s CSF to come up with a cure for Angelman syndrome. Why should we cooperate? What’s in it for us? For Lou?

Um, everything. A chance at being able to say, “Pass the salt.” A chance at being able to sleep all night in a regular bed. A chance at being able to take himself to the toilet, put on his own shoes or wait patiently for ice cream. If a little bit of Lou’s CSF will help, please pass the needle. Most of the women I know chose epidural anesthesia when they gave birth, without worrying about the needles involved. If such a needle in Lou’s spine will yield some clues, some bits of information, one small piece of the puzzle, then please take it, use it, share it, and let’s all move drop by drop toward a cure.

My son is not your guinea pig because he is his own guinea pig. My son and his CSF are part of the science, part of his own cure.

What if it doesn’t work, this cure? What if Lou gets a spinal tap for nothing? It will have been totally worth it. He will have done his small part, and as a family, we will have done our small part. And if the science doesn’t help Lou, but helps another child somewhere, someday, all the needles will have been worth it, no matter who gets the cure first, no matter who makes a profit.

Lou’s CSF is priceless. And a spinal tap is a small price to pay, a small contribution to make, for the chance of a lifetime, the possibility of a cure.

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Note: Angelman Syndrome News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of Angelman Syndrome News, or its parent company, Bionews Services, and are intended to spark discussion about issues pertaining to Angelman syndrome.