's genetic and hem appts

[Guest guest]

Hello all,

Just want to post an update. I have been pretty quiet lately....Busy

with work and kids and the juggling act that we all do. Since I spend 8

hours a day tied to a computer, many evenings, I don't want to look at

another screen.

has been doing really well infectionwise on SCIG. We have had

three sinus infections cleared with one round of antibiotics since

starting last December! He is a rough a tumble little boy...Up to 41

inches and 38 pounds! I can't believe how much he's grown.

We did see the genetic Dr. on Tues and Neurofibromatosis was ruled out.

He definately has more Cafe au lait spots, but only three are large

enough to classify and Warren and I don't have any symptoms...so that is

out.

We left for MPLS on Wed and saw our heme on Thurs....Said looks

good, but then mentioned " how would you feel about spending a few days

in Philadelphia? " He just kind of left that hanging there and then as

the visit progressed he mentioned that he had spent the w/e with Dr. O

from CHOP and two immunologists from NIH. He had discussed 's case

with them and such. We spoke about NEMO as well, but my comment was

that jacob does not have the ED symptoms...and he let me know that they

have now identified another gene defect that doesn't have NEMO. Warren

and I didn't really know what to say. He is doing the normal labs as

well as memory b cells and NK cell functions. Hopefully we'll have

results in a couple of weeks. He was sending stuff to CCHMC as well

as CHOP and see if the results are the same/different. He made the

comment that Dr. O cures a number of kids with NK cell defects as most

labs don't know how to run them right...

Our thougths are now...does he want us to go there to rule out the NK

cell defect? Is he seriously considering NEMO? and with what

posted, that scenario seems plausible? I guess we are on the wait and

see path...however in the grand scheme of things, going to CHOP now,

with deductibles maxed a better option.

I did review all of Jake's labs again and found that his memory B cells

are low. Perforin and granzyme were listed as low with his abnormal NK

cell functions. He also has been noted to have low interferon gamma and

TNF alpha. I did email Dr. K this evening and hope to hear from him

sometime next week.

Sending Happy Thanksgiving wishes to all and praying for good health for

all our little peanuts.

S.