Many of you know that when we tried to get a confirmation of Krabbe through Grey's blood, the blood was destroyed by the lab on accident and that Grey died before they were able to let us know.
And many of you know that our confirmation of Krabbe came weeks after Grey's death through an autospy revealing globoid cells in the white matter of his brain.
What many of you may not know its that we were told by a doctor at our first HH Symposium that globoid cells in white matter does not always mean that the baby had Krabbe.
As you can imagine, as the words rolled off that doctor's tongue my heart sank and a million questions went through my head.
What if he didn't have Krabbe?
What could he have had?
What if he was curable?
For 14 months I have been searching for a doctor that would be willing to test Bill and I to confirm our carrier status. Both Bill and I would have to be carriers of Krabbe for Grey to have had it. The task would prove to be very difficult, since we have nothing left of Grey to test. There are over 100 different mutations for Krabbe. Without a starting point, the combinations for Bill and I could be endless.
Our blood arrived to the doctor last Monday. By Wednesday, I received an email from her saying the results had been faxed to my family doctor, who just happened to close at noon on Wednesdays.
Again, 1,000 questions stirred in my head.
Why did Grey present so differently?
Why did he progress so quickly?
Why was he so social, for so long?
Could I live with myself knowing that, if one of us was not a carrier, I would never know what Grey had?
Thursday brought our final confirmation. Grey, if fact, died of Krabbe Disease. Bill and I were both carriers.
But, there is more to the story . . . as there has always seemed to be. Grey did nothing half way.
There are several combinations of mutations that one can have to acquire Krabbe, the most common being the 30 kb deletion. Most Krabbe kids have at least one of the deletion, while many have two and are homozygous. They can also have one 30 kb deletion with any combination of one of the 100 mutations with it.
The final way one can get Krabbe is to be homozygous with the same mutation. That means that one mutation comes from the dad, and the exact same mutation comes from the mom. It seems to be fairly rare, to have the exact same mutation, of over 100, from the mom and dad.
I have the T513M mutation.
Bill has the T513M mutation.
And although we had no blood, or hair, to test Grey, we now know that Grey was homozygous for the T513M mutation.
Just another affirmation that it was all in God's plan.