[tri-med] Re: a second child with a trisomy?

Yes!  I am currently 32 weeks pregnant with my 2nd Trisomy 18 daughter. 
However, unlike my 4-1/2 year old daughter, who is considered "mild and high 
functioning", this baby has catastrophic heart defects and we do not know if 
she will live.  My older daughter, Rachel, had a large PDA which was 
repaired, a moderate VSD that closed on it's own and she still has a small 
ASD that is considered inconsequential.  The new baby (Regan) has a 
variation of hypoplastic (i.e. small) left heart syndrome, which, on a scale 
of 1-10 in badness is considered an 8.  Rachel's heart defects are 
considered a 1 to 2.  Regan is no mitral valve, but there is a double outlet 
right ventricle.  It was not possible to see the condition of the aorta on 
the last fetal echo, so an echo will need to be done immediately after she 
is born.   If the aorta is decent and she isn't otherwise failing just from 
being an 18, the cardiologist said she could actually live years like that 
just by banding the pulmonary artery.  If the aorta is lousy and she isn't 
otherwise failing just from being an 18, we will need to see whether she is 
strong enough for any kind of heroic surgery.  The surgeon didn't say no to 
the massive Norwood Operation, but we realize that it is a longshot and that 
Regan would probably be the first newborn 18 in the entire world to receive 
it.

I want to add that we are very fortunate because 1) we live in a city with a 
world class Children's hospital (Cincinnati Children's Hospital Medical 
Center or CCHMC), 2) we have much experience with heart disease (Rachel was 
born with three holes in her heart and our daughter, Jillian, that was 
adopted from China had open heart surgery for a large VSD two years ago - 
with complications) and 3) we have a living Trisomy 18 child, so the 
cardiologist and surgeon were willing to give us the time of day.  The 
surgeon even went so far as to say that there are some experimental 
surgeries that might be worth considering instead of the Norwood Operation 
if Regan's aorta is bad.  He is, of course, reluctant to agree in advance to 
do the Norwood Operation to reconstruct her heart, but he is willing to 
consider it if she isn't otherwise failing at birth.  There is a 15%-25% 
mortality rate with the operation even in chromosomally normal children.  If 
Regan's aorta is bad, she will surely die without the operation, so we are 
willing to take the risk and push the surgeon to do it if she looks like she 
looks stable enough and isn't having apnea right after birth.

We have a meeting next week with the neonatologist at the hospital where I 
am going to deliver, so we can all get on the same page with our birth plan. 
She will need to be in the operating room to stabilize the baby at birth and 
then the cardiac team from CCHMC will need to come over and be on hand to do 
the echo.  We will have to make quick decisions once we see how Regan is 
doing.  Many phone calls and meetings have gone into this plan, but we want 
to give our child every chance possible.  We feel that she should be treated 
like any chromosomally normal child, so we are not leaving anything to 
chance.

We even consulted with Dr. Carey (of SOFT) out in Salt Lake City.  He said 
it is unlikely that a surgeon would want to go forward on a newborn, but he 
wasn't negative.  He was realistic about the situation just like we are and 
agreed that all would depend on the baby's condition at birth.  Hypoplastic 
Left Heart Syndrome is very bad for any child.

I hope this isn't more information than people on the list want, but I also 
think it is worth sharing because we were not turned away.  There are 
cardiologists in this world who are willing work with parents and they are 
located at CCHMC!  The surgeon we spoke with was very kind and simply wanted 
us to understand the risks.  Never at any time did he treat us like we were 
crazy for considering anything but "compassionate care" for our daughter.

If anyone wants additional information or has any questions, please feel 
free to email me privately.

Regards to all-

Aimee in Cincinnati, Ohio  (USA)
(wife of Bob; mother to Rachel (full T-18) 4/18/01, Jillian Yun Ping 
6/18/02, Ian 7/31/03)



----- Original Message ----- 
From: "karen thorsten" <karen7458@xxxxxxxxx>
To: <tri-med@xxxxxxxxxxxxx>
Sent: Tuesday, December 13, 2005 9:49 AM
Subject: [tri-med] a second child with a trisomy?


> Hi everyone,
> I'm just curious if anyone on the list has had a
> second child with a trisomy? And if so, would you
> share the specifics?
>         Thanks Much,  Karen (grandma to Julian, 2 1/2
> yrs.old, Mosaic Partial Trisomy 1)
>
>
>
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