Wednesday, October 15, 2008

Consult with Geneticist

We met with the geneticist this morning. The doctor was very, very nice. She went over the initial workup that was done on Finn and gave us a copy of his karyotype. She explained to us that the normal procedure, which was followed with Finn, is to take a sampling of 20 blood cells. If within those 20 cells they see 47 chromosomes in each cell, the assumption is made that the diagnosis is Trisomy 21. If a single cell within that group of 20 cells only contains the normal 46 chromosomes, then they examine a larger number of cells to determine if mosaicism is present. Sadly, the protocol that calls for a sampling of only 20 cells is based on cost, and the powers that be have decided that if every one of those initial 20 cells shows 47 chromosomes, there is a "95% certainty" that it's Trisomy 21.

So when Finn's workup was done, 20 cells were examined and they all showed 47 chromosomes. The geneticist is pretty confident that an accurate diagnosis of Trisomy 21 was made in his case. However, she did examine him and agreed that the manifestation of DS seems to be very mild in him - he smiles and coos, he has great head control, no hypotonia, normal head circumfrence, even the fact that he nurses so well. She explained that he's likely doing so well because of all the other genes he inherited from us. However, she kindly agreed to humor us and do a further cell study on him. So pending authorization from our insurance co., she will take another blood draw (we discussed the possibility of doing a tissue sample, but she said a cheek swab would not yield accurate information, and the benefits of doing an invasive skin biopsy on him aren't justified, which we agreed with) and examine 100 cells.

I feel good about this. My gut tells me that we will still get a finding of Trisomy 21, but right now I feel like I can be at peace with that and we won't pursue it any further than that. So as I said, we have to wait for authorization from our ins. co., then make the appt. for the blood draw, and then wait for the results of her findings, so I figure it will probably be a month or so before this is put to rest.


In other news, Finn again slept 10.5 solid hours last night. Kevin was my only other baby who slept through the night early on - none of the others did until they were well over a year old. Funny that I'm suddenly suffering from insomnia just when he starts sleeping all night. Anyway, I made a point of making sure he nursed every 2 hours all day yesterday and between yesterday morning and this morning he managed to gain an ounce and a half :)

And to answer your question, Alycia, he was a total crab all day yesterday! But he seems to be in a really good mood today, so I don't know if the amount of sleep is improving his disposition or not.


Tricia said...

It's interesting to know how they do the testing. I had no idea. I know a lot of people in my family were hoping for the MDS diagnosis with Georgia because it DOES seem to feel...better or something. But I have to tell you I have met a handful of kids with MDS and the diagnosis hasn't meant all that much in the way of raising them/teaching them differently. I think the hardest part of the whole DS thing in general is that we don't KNOW FOR CERTAIN how it's going to effect our kids whether it's T21 or MDS or what. But I suppose that's just like with any typical kiddos. Hope you feel some closure if they are able to d othe testing.

Laurie said...

ITA with Tricia. Im finding it really difficult just not knowing where Dylan falls on the whole Ds spectrum.
I dont think I have any reason to believe that D has MDS, but if I did, I think that I would want to know for sure as well. know, I guess. Even tho it wouldnt change anything, it would put the mind at rest I think.

Cleo said...

Lisa, I'm glad today's appointment went well and you feel more at peace with the diagnosis.

Carla said...

Thinking of you.

Alycia said...

Ha ha ha. Maybe he was just anxious to see me this Saturday!!!

Hector and Jennifer Varanini Sanchez said...

We too suspected Mosaicism based on the fact that no medical professional suspected DS with Joaquin and his physical markers are slight. But our small sample also showed Trisomy 21 as well. I too am curious about a larger test but I feel the same way as you. We have our appt with the geneticist in November.