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Saturday, May 5, 2012

Written March 31, 2012

Portrait of a Krabbe Kid

I am posting this picture of Kenan, taken at 9 months, to be more honest and respectful of his suffering. What’s missing is the sound: the neurological, high-pitched, forceful scream that comes from the pain of muscle spasms, hypersensitivity to touch, the irritability caused by a brain atrophying from nerve damage, the frustration of a body that won’t do what it’s meant to, and fear. Pre-medication, Kenan spent 90% of his day in this state. Post medications, 40%, 10% of which is normal baby stuff. Some days are better, others worse. 

In 2007, the State of Illinois passed a law stating they would start testing for Krabbe along with four other lysosomal disorders as part of the mandatory newborn screening panel (NBS). The program has yet to become available to the public. The hope is to have it up and running in 2012, but I have found several websites that state the same for 2009, 2010, and 2011. Part of the delay stems from an ethical debate in the medical community over testing for a disease there is no guaranteed treatment or cure for and, with the exception of *early infantile, no way of telling when a child will present with symptoms. There are 70 different mutations to the gene that can cause Krabbe and **siblings that have the exact same mutations can present differently. With all of that being true, ask any parent of an affected child, let alone two, and they will tell you there is no ethical debate in knowing and understanding your child completely in order to be fully responsible to them: transplants, future medical advancements, a cure included. So much of Kenan remained a mystery until we he had his diagnosis. 

*Kenan has two copies of the same deletion, the only one indicative of early infantile, with the recommendation of immediate transplant before the onset of symptoms. Time is critical as it takes 6 months for the body to start producing the missing enzyme post transplant. Whatever damage occurs in the meantime is permanent. Studies have shown that once symptoms present, a transplant does nothing to change the course of the illness and may, in fact, speed it up.

** Tamsen was tested. She is a carrier, like Dann and I, and will never have symptoms.

 In my last conversation with the Illinois Board of Health, it was explained to me that there are problems with the lab equipment being used for NBS and that they were looking to New York State, the only state that currently tests for Krabbe, for assistance. They could not provide me with a timeline for sorting out the issues. 

It is the span of time between the bill passing and now that is troubling, but when a group of professionals making up the Board of Health question the validity of what's occurring, you have to ask why. It is a complex issue full of contradictions and as a parent to separate from what's happening to your own child in order to understand the bigger picture, is a true act of will. I understand the danger in rushing something that is not ready, but I ask, no, I beg the Illinois Board of Health to act with a sense of urgency. 

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