A little over a month ago I was heartbroken for an old friend when she posted a blog about her 10 month old son. He had just been diagnosed with Krabbe Disease, something I had never even heard of. Through her blog, A Mother's Hope for a Child, I have learned a lot about Krabbe, and I wanted to help her raise awareness about this disease and to help her get it added to the New Born Screening (NBS) tests here in Arizona.
Krabbe is a rare genetic disorder, in which a child has to inherit two copies of a mutated gene (one from both parents). In the case of Krabbe, the mutated gene prevents the body from producing galactocerebrosidase (GALC) which helps maintain the protective coating of the nerve cell (myelin). This means that it prevents the nervous system from sending and receiving messages. Krabbe also transforms microglia cells into toxic globoid cells (see Mayo Clinic). Symptoms of the disease are loss in development, irritability, declined alertness, feeding difficulties, etc. If both parents are carriers (meaning both have 1 copy of the mutated gene), then their children have a 25% of inheriting both copies and getting Krabbe, a 50% chance of inheriting 1 from either parents and being a carrier for Krabbe, and a 25% chance of not inheriting either copy and being Krabbe free. For children of parents where only 1 parent have the gene, they can only become carriers. So you can see it’s actually quite rare for a child to get Krabbe.
Currently, there is no cure for Krabbe and the life expectancy is only from age 2 -7 (depending on when the disease is diagnosed and how quickly it progresses). However, if the disease is caught at birth, before any of the symptoms are seen, there is the possibility for a stem cell transplant, in which the donor stem cells can help the body produce healthy microglia which can deliver functioning GALC enzymes (Mayo Clinic). This doesn’t mean it’s a cure; so far it is just improving the outcome, slowing the progression, and giving a longer life expectancy.
Here in Arizona though, Krabbe disease testing is not part of the NBS test. In fact, New York and Missouri are the only states currently testing, and Illinois, New Jersey and New Mexico have passed legislation to add the testing to their NBS. The remaining 45 states don’t even have Krabbe testing on the radar (including AZ). Therefore, unless you are aware you are a carrier of the mutated gene for Krabbe, then you will not know if your child has it until the symptoms appear, as is the case for my friend. To me, this is ridiculous. If we know the only successful treatment in helping the children and getting a longer life expectancy is before symptoms appear, why in the world are we not testing for it before symptoms arise?! I’m heartbroken for my friend and her son. She also has a very supportive husband and a 2.5 year old daughter. I can’t even imagine how hard it is on all of them. Not that it would make it easier on them to have known when he was born, but they would have at least had options that they could have decided between. Now they really have no options. I’m not sure how to go about getting Krabbe on the NBS, but if she needs me to sign a petition, send letters or emails, make phone calls, I will do it. No child should have to suffer so much and families should be given options to help treat the disease as best as we can currently.