8.27.2010

One out of a million...literally.

As most of you know last week at our 20 weeks ultrasound we were told that our baby has some birth defects with his hands and feet. We saw a specialist the next day and he also found a heart defect. He suspected Trisomy 18 (fatal) so I got an amnio. My FISH results came back negative for Trisomy 13, 18, and 21 (downs). We have been so excited and living our lives "normally". We knew the rest of the amnio results were EXTREMELY rare disorders and the odds were in our favor. 
Yesterday while at work the Women's and children's hospital in my city called with the results of my full amnio, there's a problem. A very rare problem, SO rare there are MAYBE 50 people in the WORLD with this disease/disorder. My son has a partial trisomy 9p (and 3/4's q). I don't expect anyone to know what that means but here's some explaining. Instead of having an entire extra third 9 chromosome, he has a full part of the 9p (p is the stop of the chromosome) and has half of the 9q portion (q is the bottom of the chromosome). Most studies are either on children having partial 9p or partial 9q. 
My hospital is famous around the world for working with the most sick children and being at the forefront of research and studies. Yet there were were in the waiting room waiting for our meeting with the genetics counselor and here I see the counselors at the printer copying pages out of a research book trying to learn about it before our meeting. 
Because no one has really ever dealt with this disorder the outcome is truly unknown. A child with only a partial trisomy of the top of the 9 chromosone looks to have pretty good chances of life (with moderate to severe mental retardation). However, a child with the same 9p and a little bit of the 9q (bottom half) is a worse diagnosis. This small 9q part that he has looks to be causing his heart defect as well which may be life threatening. Our son has a good chance of living (I think) however his quality of life is going to be poor (possibly). 
We go in today to meet with the fetal cardiologist for a fetal echo cardiogram to get answers on his heart defect and if it is fixable. We also need to tour the NICU and meet with the Orthopedist at some point. My baby now has a cardiologist and a genetics pediatrician. 
They told me yesterday that I have a "choice" to terminate the pregnancy. I don't really feel like I have a choice. This has nothing to do with pro life or pro choice or anything like that. I can't imagine ending my baby's life and living with that for the rest of my life. I just can't do it. If my son is going to pass away it needs to be on his own terms and until then I need to make his life as comfortable as possible. My son has a name, he moves, he is a human being and there is a chance he will live a very long life and that is not something I am going to mess with. 
I found a story about a boy who was born with the EXACT same chromosome disorder that my son will have. However, since each chromosome holds so many different genes for every person then their outcomes could be different, but this gives us hope. He is now almost a teenager and has lived a fairly "normal" life. He wasn't born with a heart defect but I'm keeping hope that is something that can be fixed. He also had the same feet condition that my son has, it's basically the opposite of clubbed feet and I've been trying to explain this to people and was getting so frustrated that people didn't know what I was talking about and just kept telling me how fixable clubbed feet are, even though they aren't clubbed feet! This website of this boy explained that they are just opposite clubbed feet, not not clubbed, but it made me feel better that someone understood me. Even if this family is in England. 
There is a support group for children that have some form of this disorder in England, they only have 19 members and again it is not exactly for what my son has. I cannot believe that out of all of the odds in the world this is happening to US. They don't really know the odds but something like 1 out of 50,000 (at least). 
We were told this may be in our genes but somehow we came out okay so we got our blood drawn to get a picture of our chromosomes. If either of us is positive for it then we need to get my 1 year old screened (in case his is not manifesting in something physical we can see but maybe mental or cognitive) and then we will know that future pregnancies could risk having this disorder. 
I am so numb. At times I feel happy that he has a pretty good life expectancy for all of the problems he will have (we won't know for sure until we have the echo today though) but then a portion of me feels guilty if I have him and he is bedridden or cant talk or can't see or something else. It's too much to think of. I'm a wreck but I'm trying to stay positive, it's hard. 
Here is a link to wikipedia that has a page on the closest thing to my son's condition. This website talks mostly about a full trisomy (an entire extra number 9 chromosome) but our son does not have that so the fatality of the disorder is not the same. There is also a picture on the website that I have copied below. If you see there are bands that are numbered. The picture is of the 9 chromosome that we all have 2 of, normal. My son has an extra one of those from the top of the picture to the number 9q21 band (shown on the picture). Everything below the 21q is not there. 


Thank to all of you who have kept us in your prayers and thoughts. 
<3 Erin

4 thoughts:

Ashley

May every sunrise hold more promise, every moonrise hold more peace.

You are the strongest woman I know and I'm so inspired. I love you.

michelle k

Isn't the internet amazing?
1. I'm so glad you are able so find support and comfort in a family across the ocean!!
2. I'm so glad I'm able to keep up with you. The more I read, the more I want to keep hearing from ya! I'm such a stalker!!! Okay, there. I said it.

Reading about your "choice" to keep the little guy around made me cry. Even if Nemo isn't able to comprehend that decision in this life, you can bet that your sweet Nolan will recognize your strength one day, which will teach him invaluable lessons.

Erin

Awww Ashley...thank you.

It's pretty crazy that I'm learning about someone with the same thing across the ocean. I find most children with this disorder seem to be from England or Australia. Weird. Stalk away, that's why I write my blogs...and of course for myself :)

Molly

Don't give up. I totally agree with your reasons. Plus:
- they may be wrong
- there may be a treatment once they see the baby when he is born
- your baby can help the doctors learn about this and may help them find the cure for other babies
- if he has to go, you would want to spend as much time as possible before letting him go (as anyone would do with a living child. They would fight to the very end!)
Sending you hugs and prayers.

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