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.
I encourage you to follow her blog
and facebook page
to follow her story. They are trying to head to Pittsburgh to see THE Krabbe
specialist. We’re all praying for some
hope in this. Please join with me in
praying for this family – praying for strength, financial support, and a
#MiracleforMax.
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