Wednesday, March 16, 2011

A Kind of Unbelievable PWS Appointment

So we had PWS Clinic in Columbus Friday. He is 95th percentile for weight (36 lbs 3/16 oz and 35 or 36 inches tall - up from 60th percentile 6 months ago). He gained the majority of that weight before Christmas and since Christmas has gained around a pound. After Christmas he became much more active (he was sedentary/guarded about his movement for a long time after his surgery) and we modified his diet. I gave the dietician a detailed list of the things we give him now - and she is going to be sending me some guidelines and a plan. I appreciate that. We also are going from .4 hgh to .6 hgh, so that is good. So now to the unbelievable part.

We told the geneticist that we were unsure how we could have UPD when neither my husband nor myself had ever had a blood test. She was dismissive at first, "no you have UPD" but we were persistent and said we were especially concerned in light of the fact that we are pregnant again. She look baffled, flustered, and concerned. Yeah I did say PREGNANT again - good lord we are crazy - and I guess that explains my crazy worried post from last month, apparently the hormones were starting to rage! Anyways, she looked back to the testing and saw that we in fact did not have blood tests, agreed that it is not certain that we have UPD, but likely. So we could have the imprinting one and our chances for having another would be different than with UPD. A pleasant thought for an already hormonal person. So we all had blood testing Friday and should find out in a few weeks if we in fact do have UPD or imprinting.

A little background, say a year and a half ago, when we were pregnant with Lucy, we expressed the same concerns to the very same geneticist, and were dismissed as worriers. I swear the same things were said this time around, but for some reason she actually listened to us this time. Mind you this geneticist has the God complex times 100, she feels apparently so intelligent that she doesn't have to listen or answer any real questions. Her personality has always rubbed me raw - she constantly criticizes WV doctors and early intervention which is offensive ( but mostly because I'm kind of full of myself too and cannot stand being talked down to). She apparently thought we were confused, told us again that we had UPD, and said if we felt so worried to have an amnio and they could do a methylation test.

What made me most upset is the way the geneticist acted. She immediately started blaming the initial WV geneticist for not doing the blood test.
Background: We went to a geneticist in WV in November 2008, She called me in January 2009 to tell me we had UPD. Seriously I was so shocked during the phone call I don't have a clue what she said for sure. The test was forwarded on to this geneticist in Columbus with the PWS Clinic who we saw to explain the diagnosis. We never got a confirming letter or a copy of any results from the initial geneticist, they simply forwarded the testing on to this geneticist, who we saw a month later and she explained that we had UPD, and then sent us a letter stating we had UPD and gave information about UPD. Yeah, so is it too much to ask when you receive a genetic test to REVIEW it to god forbid see if we need follow up blood testing to actually confirm it?

Anyways, thats enough of a rant I suppose for the disaster that was Friday. We are very excited we are expecting another one - but this time I will likely be having an amnio to ease our worries. I'm due October 11th, 2011!!!

3 comments:

Lisa said...

A GREAT Big congratulations on your pregnancy! I am so thrilled to hear the news! It will be such a wonderful addition to your beautiful family. Best wishes to you all.

Sarah said...

congratulations on your pregnancy! That geneticist needs a good kick in the shins. (coming from someone with a child that has PWS-ID, it's worth knowing)

Andrew,Sally,Megan,Daniel and Lucy said...

Hugh congratulations on your pregnancy