Well, today was the day we saw the doctor...he ordered all the labs necessary to rule out MSUD, including comprehensive gen
etic testing on Wil. Unfortunately, the lab results that will tell us whether or not they have MSUD won't come back until NEXT WEEK =( because Kaiser does not have the equipment nearby to test for MSUD. However, we did get urine results back...urine can't diagnose MSUD, but it can tell us if a patient was in a metabolic crises...both boys tested negative (that's a good sign) on that...they also tested negative for diabetes (which can make urine smell fruity).We will continue the low-protein diet until all results are back.
Poor Joshy wasn't expecting to be a pin cushion on his first birthday...but he took it like a champ! Wil, on the other hand, required mommy's arms AND legs wrapped around him...one lab tech holding his head and two at his arm...even after all that, he had to be stuck an additional time because he managed to move!
And, for those who have been asking...Joshy's party is still on for this Saturday =) His cake will be protein-free, but you will have a real cake to eat =)
We appreciate your continued prayers as we wait for answers! At any time you need prayer for you or a loved one, we are there for you!
With much love,
Melissa & the Boys
ps...here is web info on Maple Syrup Urine Disease
http://emedicine.medscape.com/
The boy's would have the "Intermediate" variant, which usually presents at 5 months to 7yrs of age.









