Thursday, October 13, 2011

The Magnificent Seven (Subtypes)

Do you remember the last time you did this?

Sitting there in the Hopkins Peds Clinic waiting room,with all the babies (and the little kids)among pictures of yawning Poohs & smiling green dinosaurs, my mind took a turn back, to when (indeed) I was last considered a "pediatric patient."

Diabetes Clinic. Like clockwork, every three months. Getting up the nerve,somewhere around the age of 19 (yes, I was a late bloomer) to make the trip myself. Waiting room conversations with Parents of D. (somehow, I never ran into any other teens with diabetes) Sneaking out the back door (post-appt) & heading straight for the McDonalds across the street, to celebrate the start of the next "A1c Stretch" on a hot fudge sundae. The long, long, long wait for my a1c. Saying goodbye,(at the age of 19 years & 364 days) because I thought 20 was entirely too old to still be seeing a peds Endo. (it really isn't, if they're good, but I was entirely too selfconscious back in the day)

And here I am again, this time with a child in tow (albeit somewhat invisible to the naked eye, but at least I don't have to keep my child occupied, he seems perfectly content to play kickball with my intestines all day). Getting checked in, as a patient. Parents cast me curious looks,staff keeps asking "is this for yourself?" Just like that, it's time to waddle back to the exam room.
(genetics is located in with the pediatric diseases clinic)

"Hello, I'm Carolyn."

We discuss the genetics of Bartters Syndrome, the weird mess of a family tree I have. (they want blood from family members, but yeah, not so sure THAT is going to happen)She tells me people of Swedish & Italian descent are actually carriers 1/200 or 1/100% versus 1/1000 in the general population. (that's not so great,as my husband is 1/8 Swedish but yeah, what can you do) We talk about the research study from Yale, & what they're attempting to find. (testing for the most 7 common subtypes, & perhaps other testing on the types that don't "play by the rules." We review my medical file,& I sign more release forms.(for intial dx'ng records)

The Yale form is long, & geared very much toward the pediatric patient/and their parent, but it still applies. And I sign,my toes curling in anticipation at the thought that sometime soon,3 or so months from now, I'll learn what sub-type of Bartter's I've got. (probably on the day I deliver, when I could really care less)
I'm just surprised that there weren't any conditions that would keep one out of the research,like there generally is.
(start combining diseases, & researchers can't tell what is the effect of what)

And then I give blood, & wait...for something. (too long coming) What something is, I don't know, but it's better then the nothing I've got now. I'm grateful that the genetics counselor at the perinatologists has friends in high places..for somehow,this kind of stuff never just "finds its way" onto the Internet.3/4 of the studies I've been in,I've found out by word of mouth. (by the time it makes it to, they are desperate to find people,in my opinion, the truly great stuff (like the Artificial Pancreas Studies) go reallyyyy fast)

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