Enzyme levels, carrier testing, etc.

Ugh!!  I'm stressed tonight and thought I'd come here in hopes that you all could share your expert advice/knowledge with me.  A couple weeks ago we had Dalton tested for Krabbes just so we could put our minds at ease that he didn't have it.  Well, I heard back from the Dr. today with some news....sort of.  His enzyme level was 11....so on the "low side of normal" she said.  Makinley's level at time of diagnosis was 3.9 with her blood (which is how Dalton was tested too..so the comparable #.  Her level was 1.9 with her skin biopsy)  Her Dr. seemed to think that this enzyme level, while it is definatley Krabbe diesease, is a milder form....that a more severe form would show a lower enzyme level.  So, Dalton's low enzyme activity caused her some concern, she said, that if Makinley has a "milder form" of the disease, does Dalton have a mild form also and is just asymptomatic at this point?  She wants to do some additional testing (more or less carrier testing to make sure he doesn't have both of the same mutations Makinley has and thus, the disease)  So, my questions......what enzyme levels have you guys had, both with your Krabbe kids and carriers?  If he is just a carrier but has extra low enzyme activity does this mean anything as to what we can expect later in life...would it cause any problems or concerns? 

I think that explains it.  Sorry if I sound scatter brained....I'm stressed.  I know you all know how that goes.  If there are any other questions of things I left out, feel free to ask.  Oh, Dalton just turned 3 years old.  And I don't know if this matters, but apparently Makinley has one mild mutation and one more severe mutation...whatever that means.  Jeremy and I don't know what our enzyme activity is.

Thanks so much, everyone.  Sometimes I don't know what I'd do without the wealth of info. I know I can turn to here.

Hi Dawn, I've just checked our info on Jack and he was 0.6 at diagnosis (via blood tests), Scott and I were also tested but we were never told the numbers. (Im curious now so think i will phone them today to find out)

Im sorry to hear that you are even more worried now but i am sure Dalton will be fine.  I would definately contact the Doctors that are experienced in Krabbes, because you need peace of mind about this.

Hugs Melanie x

I'm just reading this now, but curious as to what the explanation was??

Yeah, carriers do generally have lower enzyme levels.  It is confusing. It confuses me how different labs use different scales/ranges. It'd make much more sense it it was all the same.