Robertsonian (Balanced) Translocation 13;14 – A letter from a genetic counselor

Here is my DNA test… look closely at 13 and 14.

On Friday we finally got the phone call with the results of our blood draw. Stephen’s blood work came back normal, and the lab told me that mine came back “positive as a carrier of Trisomy”

I E-mailed to get clarification. While I have a good grasp on genetics and the basics, this was hard to understand let alone be able to explain. I asked the genetic counselor if this means I personally have trisomy (balanced) or just carry it. Her response helped Stephen and I understand specifics.

A letter from our genetic counselor

“Sarah,

No, you do not have a trisomy. You have two copies of chromosome 13 and two copies of chromosome 14. One chromosome 13 and one chromosome 14 are fused together into what is called a Robertsonian 13;14 chromosome. Technically, a small piece of chromosome 13 and a small piece of chromosome 14 were lost at the time the chromosomes fused (either when you or an ancestor was conceived). But the missing pieces are not necessary for normal development. Despite the small missing portions, your chromosomes are considered to be balanced. You are a Robertsonian translocation carrier. Specifically, you are a Robertsonian 13;14 translocation carrier. 

At each conception, there are 6 main chromosome 13 and 14 possibilities (the copy of the consultation letter I mailed to you has a diagram of the eggs that lead to these):
Two balanced chromosome possibilities:
– 2 normal chromosome 13s & 2 normal chromosome 14s 
– 1 normal chromosome 13, 1 normal chromosome 14, & 1 translocation 13;14 chromosome 
Four unbalanced chromosome possibilities:
– 1 normal chromosome 13 & 2 normal chromosome 14s (= monosomy 13)
– 2 normal chromosome 13s & 1 normal chromosome 14 (= monosomy 14)
– 2 normal chromosome 13s, 1 normal chromosome 14, and 1 translocation 13;14 chromosome (= translocation trisomy 13)
– 1 normal chromosome 13, 2 normal chromosome 14s, and 1 translocation 13;14 chromosome (= translocation trisomy 14)

These possibilities are not equally likely. There is some data (limited so far) suggesting that female carriers have more balanced eggs in their ovaries than unbalanced ones. 

In regard to the question you left on my voicemail, these are your estimated risks for a recognized, natural pregnancy:
– 20-25% chance of miscarriage (% with unbalanced chromosomes not determined)
– If second trimester amniocentesis is done, a 5-7% chance of an unbalanced chromosome result 
– Less than 1% chance of delivering a liveborn baby with unbalanced chromosomes 
– Less than 1% chance of UPD in a liveborn baby with balanced chromosomes carrying the Robertsonian chromosome 

I put a copy of your and Stephen’s reports in the mail for you. 

Take care,
Maureen “

Honestly, this news was heart wrenching for us. My initial reaction was that this is my fault. I did this to Logan  Of course I had no idea I was a carrier but I felt responsible and guilty. A couple days have gone by and I know this is not anything we could have avoided. Now that we know, we can move forward when the time comes.

Future options

We have the option to still have biological kids in the future, but at a VERY spendy price (about $20,000 an attempt). IVF-In Vitro Fertilization (http://americanpregnancy.org/infertility/in-vitro-fertilization/) along with PGD- Preimplantation Genetic Diagnosis (http://americanpregnancy.org/infertility/preimplantation-genetic-diagnosis/).

This is something that is a LONG way off, but we do find comfort in knowing that if we want to, we have the option to have a baby and not worry about going through this journey again. We would pay any amount of money to not have to go through this heartache, guilt and stress again.

Trying to make sense of it all

Someone asked me if I could go back and undo this, would I? I’m not sure why, but the answer is no. There is an attachment and indescribable love with Logan, even though he hasn’t been born yet… I couldn’t imagine life without him. Feeling him move around it the craziest but most exciting feeling in the world. Logan has brought Stephen & I closer as a couple.

I constantly wonder, why we were given this obstacle in life while others were not? Life is unfair, but sometimes it seems like people who don’t want a baby are blessed with them while others who only want to be parents struggle at each turn. I know we will not get an answer, we just take the life we are given and have the best attitude we can.

Looking to the future

All our family, friends and co-workers have been truly amazing during this time. Most people don’t know what to say, because there really is nothing that can be said. We know that if we ever needed anything, we have many people in our corner. Nothing means more to us than that. The best thing that he will be perfect. Every time I think about that, it brings tears to my eyes. I cling to that thought and it helps me get through the day.

We are supposed to have appointments with both the regular OB and specialist every 2 weeks. I’m hoping that after this week we can just scratch seeing the specialist. It will not change the outcome, and we really do not like the way we are treated there. I don’t know that we fully trust the doctors there either, & at times they seem incompetent. We have our anatomy scan this week & they should be able to see a clearer picture of Logan and his abnormalities. After so much negative news, we are hoping to hear something positive this week.

Post was initially written January 4, 2015.