[ Post a Response | Trisomy 22 and Misc. 22 Interest Board ]
Posted by H. on 9/25/2006, 1:48 pm, in reply to "Re: Full/Complete Trisomy 22 - lost her 2 weeks ago" --Previous Message--
199.190.225.44
T -
you might be right. Here is the way my genetics counselor explained it to me, and once I heard it this way, it cut out a lot of confusion.
There is a BIG difference between Partial or Mosaic Trisomy 22 and Full/Complete Trisomy 22. With partial or mosaic, apparently the chromosome breaks off while replicating and oftentimes depending on what organs if affects, it determines how severe the birth defects are. Quite likely it can still mean very severe defects if it happens to affect the brain or kidneys or major organs. OR, it can break off but only affect secondary organs and thus, children can live and survive and funtion at varying levels.
Full or Complete Trisomy, on the other hand, means that the third strand has replicated COMPLETELY - there is a complete third strand, not just half of the broken off part, and the reason it is "not compatible with life" is that it affects EVERY organ. In that sense, you are not taking your chances and hoping for a good outcome. The prognosis is a fatal one.
According to my geneticist and a pediatric doctor in the NICU I went to, cases of Full Trisomy 22 are very rare to survive after the first trimester, however there have been some women who have carried them into the 3rd trimester and even to term (me included), but they most often either die in utero or live only a short time after birth. He also told me that there IS a documneted case of a FULL Trsisomy 22 baby that lived several years, but the child had such severe anomolies that he/she was confined to a crib for their entire life. I don't really know the specifics on the anomolies or how long the baby survived.
That is as I understand it - but of course, others might have a different way to explain it. I think it gets confusing becuase I often read posts where people are discussing thier children and I begin to second guess my diagnosis and decsisions but I have to keep reminding myself that these are really two different prognosis. And there is not much out there on Full Trisomy 22. The reseach is sketchy and limited. When I first lost my daughter, I was frantically trying to find someone who shared the exact same diagnosis because it is SO difficult to find research on it. But after awhile, I realized that people whose children have died - regardless of the disorder - all feel the same sense of loss, and that it didn't necessarily matter the reason. I was able to find empathy and understanding anyway. It was, however, VERY reassuring to meet someone who did know exactly what was going on though.
I am no doctor, but this helped clear it up for me 
Peace to you. H.
: melinda,
:
: thanks for your nice story...but your
: nephew's baby girl must not have had
: COMPLETE or FULL Trisomy 22 but mosaic
: Trisomy 22. There have only been 2
: documented cases of FULL or COMPLETE
: Triosmy 22 babies making it past a few
: hours after delivery.
:
: Our baby was a FULL or COMPLETE
: Trisomy 22 in which all her cells were
: Trisomy 22 and she had many fatal
: abnormalities. We lost her 10 days
: ago at 18 weeks gestation.
:
:
: --Previous Message--
: Hi H.,
:
: My husband and I were just diagnosed
: today...with full Trisomy 22. I have
: not lost our baby girl yet but they
: tell me it is imminent. It's
: hard...my doctor had never seen a case
: of this last this long and the lab
: that did our result hasn't either.
: I'm 15 going on 16 weeks pregnant.
:
: What is your story? I'd love to
: correspond as I'm a little scared and
: not much info on this.
:
: Thanks, T
:
: --Previous Message--
: My daughter was diagnosed with Full
: Trisomy 22 and we lost her two weeks
: ago. I am interested in corresponding
: with anyone who has received the same
: diagnosis and went through this or is
: going through this and might want to
: talk. I keep hearing how rare it is
: and there is not enough information on
: it. Please send me your email and I
: will email you directly.
: Thanks, h.
:
:
:
:
:
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