Tuesday, July 26, 2011

Trisomy 13

We finally heard from the doctor last night.  The amnio has confirmed that Quinn has full Trisomy 13. 

What is Trisomy 13
Trisomy 13 is a chromosome abnormality caused by having three copies of chromosome 13. Normally, each person has two copies of every chromosome. One copy comes from the mother, and one copy comes from the father. Children with trisomy 13 have two copies of all their chromosomes and an extra copy of chromosome 13. It is also possible for a child to have an extra copy of only part of chromosome 13, which is called partial trisomy 13.


Treatment
There is currently no treatment or cure for trisomy 13. The infant should be kept comfortable.

Prognosis

The prognosis for infants with trisomy 13 is not very good. Approximately 45% of infants do not live past 1 month of age, 69% do not live past 6 months, and 72% do not live past 1 year. The prognosis is different for children with partial trisomy 13 depending on how much extra chromosome material there is.
 
Although I knew in my heart that it would be Trisomy, though I was expecting 18, hearing it confirmed was heartbreaking.  I now have to face this fact that my daughter will most likely not survive.  There is no hope that it might not be Trisomy, it is and we have to face it. 
Now we are forced to make this impossible decision.  Do we go full term or end the pregnancy now?  I haven't the slightest fucking clue how to make this decision.  This is literally a life and death decision and I don't even know where to begin.  I am terrified that my child might suffer.  According to the doctor due to the severe malformations of the brain he does not believe that Quinn will be able to perceive suffering. What if he is wrong? I am so lost right now.  I do not want to rob my child of the chance of life, even if it might be a short one.  However, I do not want to bring her into a cold world where she will have to struggle for every breath that she takes.  I can not imagine holding my sweet baby while she has a seizure.  At the same time though, I do not want to keep her from this world simply because I am too scared of what might happen.  There are children and even adults who are living with this condition.  I am not going as far as giving myself the false hope that Quinn might be one of them, but what if........  Can I keep her from that possibility?  I don't know.  I don't know that I could live with the 'what ifs'  it is possible that they might just crush me.  Although, so might carrying her to term.  I don't know how to deal with feeling her inside of me moving, alive and strong knowing that in just a short time she might leave me.  I don't know how to deal with other people who don't know the situation commenting on what they assume is a happy healthy pregnancy.  I don't know how to go through labor knowing that my baby might not be alive when she enters this world.  I don't know how to watch my baby, my daughter, die. 
 
I am so lost and confused right now that I don't know where to even begin.  The pain that I feel is more than I ever thought possible.  I had no idea the sense of loss I would feel with the thought of loosing someone that I have never even met.  This little girl is a part of me, she is embedded in my soul and I feel like to loose her I will loose me. 
 
Last night was very hard.  I honestly didn't think that I would survive it.  I couldn't breath, I sobbed, I hyperventilated, I thought that the sadness would kill me, yet somehow I am here today.  I know that there are more nights / days like that in my future and that is a hard thing to face.  I am blessed with such wonderful family and friends yet last night I felt so alone.  Even with Steve right there with me facing the same hell I am facing, I felt completely and utterly alone.  This is such a cruel and unimaginable hell that I am in right now.  I just pray that I somehow find the strength to make the decision that I need to make.  The decision that Steve and I will be able to live with together and that will bring us as much peace as possible in this nightmare.
 
 
 

2 comments:

Krysta Senek said...

My name is Krysta and my friend Jason (your co-worker) told me about Quinn. I believe he shared my daughter's web site with you, but I wanted to reach out to you ASAP to tell you I am here to support you, listen to you and answer any questions you have. My daughter, Josephine, whom I also called Bean (or Josa-bean or J-Bean or Josephine-a-bean), was born with Tetrasomy 8p Mosaicism. She is 1 of 20 in the world with this disorder and there is no information to provide an accurate prognosis. Her web site is www.normalforjosephine.com.

While I live in New Jersey, I will actually be in Ohio this weekend for a family reunion. My parents live in Fairlawn. I would love to meet you, introduce you to my Josephine and answer any questions. I know Josephine doesn't have the same disorder and initially, I only wanted to talk to parents whose children have the exact chromosome disorder. Now, after living with her diagnosis for 2 years (she was diagnosed at 10 months old), I can say it doesn't matter who you talk to because we all can relate on some level.

I am also the New Jersey support contact for the Chromosome Disorder Outreach (http://chromodisorder.org/CDO/).

Please feel free to call me at 646-303-9840 or email me at klract@aol.com. We can meet up on Sunday.

All my best to you and I hope to meet (or at least speak to) you soon.

Best,
Krysta Senek

Partial Trisomy 13 said...
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