KKI visit

[Guest guest]

Well, in between the conference at Princeton on Sat. and Thanksgiving dinner at

Aunt

's house yesterday, we spent Monday and Tuesday visiting the Kennedy

Krieger

Institute in Baltimore.

Not sure if I had explained how we got into that, basically another case of

Charlie's daddy

volunteering to get Charlie stuck for a blood draw again. About 5 years ago I

signed us up

for Dr. Capone's part of a research study looking at heart defects in Ds. They

were looking

for 100 kids with Ds with heart defects and 100 kids with Ds without heart

defects.

Thankfully, Charlie is in that second category. Think they were looking at 3

particular

genes, and their alleles, to find any correlations with heart defects.

Couple of years ago, got a letter from KKI looking for kids for a different

research study. I

called them up and from phone interview, we jointly concluded Charlie would not

make a

good subject for their study. Kids who were verbal and literate would have been

better

subjects.

Then, couple of months ago, got a letter from Dr. Capone inviting people to

volunteer for

another research study. This one, principal investigator Dr. Walter Kaufmann,

looking at

degrees of mental retardation in boys with Ds and Fragile X. Think Dr. Kaufmann

is to

Fragile X at KKI what Dr. Capone is to Ds. So I called the study coordinator to

offer to

participate but telling her that Charlie is very delayed and also has autism,

thinking that

we'd probably decide, like earlier study, not a good candidate. But no, on the

contrary,

were quite happy to get a little boy, think the age range is 6 to 18, with Ds

and autism.

Think they're recruiting 60 little boys, some with Ds, some with Frag X, and

some typical,

and maybe some autism sprinkled among the Ds and Frag X.

Study requires 2 days of testing, observing, evaluating. Asked if we could make

it one long

day trip. Answer was no, but didn't hurt to ask. So, Monday and Tuesday were our

two

days. For the earlier heart study, they had taken blood from all 3 of us,

Charlie, me, and

Lynn. Lynn hates needles. This time they wanted only Charlie's blood, but all 3

of us took

IQ tests. Can't wait to find out Lynn's IQ, maybe I'll post it here, hmm, maybe

not, and

don't think I'll be posting mine either.

Day one we went to KKI downtown, turned in paperwork, including packet of half

dozen

questionnaires and surveys, and did IQ testing. Finished in time to have a late

lunch at

seafood buffet in Inner Harbor and caught 3:30 dolphin show at the

National

Aquarium. Both little boys, and maybe even their grumbling teenage sibling,

liked that.

Day two was at the KKI facility on Greensprings Ave., where they have an autism

center

and school. Spent an hour giving Charlie an autism evaluation, then 2 hour

autism

interview with me and Lynn. Then neuro-motor exam by Dr. Kaufmann, who

simultaneously described the study and answered any questions. Then final item

is the

blood draw. Consent form stated they would make not more than two attempts to

obtain

about two tablespoons of blood. Nurse/phlebotomist spotted a vein she liked

higher up

on Charlie's arm than he's ever been stuck before. Maybe it wasn't much more

than two

tablespoons but it went into 4 tubes, 2 of the 4 only a partial fill, put into a

gel medium.

Still, a long, hard stick. Probably why they save it for last.

We were done by about 2. Oh, very nice people at KKI. They had sent out for

lunch for us.

So, we could just pack up, visit the restroom, and leave. Thought we would miss

heavy

trafic but got caught by bad accident on I-95, about a 45 min. delay, just glad

we were not

part of it.

Charlie ate very well at and at Aunt 's. So, he's well fed but has

a big bruise

on his upper left arm.

Someone at CHOP is supposed to call on Monday to tell us what time to bring

Charlie in

for his upper endoscopy on Wed. Helluva way to start the holidays, and mostly my

fault, of

course. But we're happy and thankful most of the time.

-- Bob

crosspost of

http://unomas.proboards10.com/index.cgi?board=DS & action=display & amp;

thread=1195829703

which has a few photos