Balanced Translocation

After losing Brooklyn, we found that I have a balanced translocation--in other words, I'm a carrier for a rare form of Down Syndrome. 

Essentially, I have the normal amount of genetic material, but it's arranged differently. This causes no problems for me, except that it can be passed onto my children and cause problems if their DNA arranges in a different way. 

We consulted specialists at the University of Utah and were given the following odds for future pregnancies:
               -35% chance of losing the baby at some point during pregnancy due to an unbalanced translocation.
               - 15% of having a living child with Down Syndrome.
               - 25% chance of having a healthy baby, but with the same balanced translocation I have.
               - 25% chance of having a perfectly healthy, genetically normal baby.

We know our odds aren't great for having a healthy baby naturally. We looked into our other options--adoption and IVF with PGD (invitro fertilization with preimplantation genetic diagnosis).  Neither felt right to us. So we have chosen to keep trying naturally for a baby. We know we likely have more losses in our future, and we could become parents to a special-needs baby, but we strongly feel that this is the path we are supposed to take to grow our family.

For more information about balanced translocations:

1 comment:

  1. Dear Miss Kelli (and Sterling)
    your blog has been an answer to prayer. My husband and I both are carriers for a fatal genetic disease - 1:4 chance of having a baby affected. It has been VERY hard to not only have our little girl die, but know that our future family planning will not be without lots of anguish and anxiety. We can't just "get pregnant" - we have to be methodical, study out our options, and most importantly seek personal revelation from the Lord. We were also presented with various options for future children, one of them being PGD. We both felt strongly that it wasn't the right thing for us. So we are moving forward with faith with getting pregnant naturally, and not taking counsel from our fears. I pray with all my heart that our next child will be healthy, but understand that there is a very real chance that he/she will have the genetic disease. It is heartbreaking to have a child die - but she was, and continues to be, an wonderful blessing in our lives. We have never felt closer to Heavenly Father, and we have never understood the Plan of Salvation better than when we went through this trial. Our faith is not dependent on outcome. I pray for you and your family.
    God bless you!