Tuesday, April 27, 2010

Translocation Trisomy 21

*Waiting to see the doctor*

Austin had his 2 month Doctor appointment yesterday. We all know what that entails…shots! Thankfully, daddy was able to go with us and that made everything a lot better. Austin did really well.

I’m still new to this “world” of Down syndrome. I’m constantly educating myself. I asked the doctor what form of Down syndrome Austin had...I assumed he had the most common form of Down syndrome, which is strictly Trisomy 21. This accounts for 90-93% of children with Down syndrome. There are 2 other forms of Trisomy 21 that are considered very rare. Mosaic Trisomy 21 and Translocation Trisomy 21. Austin has Translocation Trisomy 21. What does this mean? Well, this type of Down syndrome occurs when part of chromosome 21 becomes attached (translocated) onto another chromosome, before or at conception. In other words, Austin has the usual two copies of chromosome 21, but they also have additional material from chromosome 21 stuck to the translocated chromosome. In Austin’s case, the additional material from chromosome 21 stuck to chromosome 22.

Most cases of Down syndrome aren't inherited. They're caused by an error in cell division during the development of the egg, sperm or embryo. Translocation Down syndrome is the only form of the disorder that can be passed from parent to child. However, only about 4 percent of children with Down syndrome have translocation. I also read that ¼ of children from translocation inherited it from a parent, while the remaining ¾ did not…it was simply an error in cell division.

In translocation where it is inherited, the mother or father is a balanced carrier of the translocation, which means he or she has some rearranged genetic material, but no extra genetic material. A balanced carrier has no signs or symptoms of Down syndrome, but he or she can pass the translocation on to children.

Ryan and I are going to have our own Chromosomes examined to make sure neither of us are carriers. I WOULD say it’s unlikely, because based on the percentages it is. However, I’ve come to realize that percentages don’t work well with me. After all, I had a mere 2% chance of having a baby with Down syndrome and come to find out, he has one of the RARE forms of Down syndrome that accounts for about 4% of all forms of Trisomy 21/Down syndrome.

*Waiting on the nurse to come in with the shots...he was in such a good mood before they stuck him*

If anything, this only confirms that Austin’s Trisomy 21 wasn’t by “chance.” He didn’t just “happen.” I felt that way before I knew what form of Trisomy 21 he had. I feel that way about all children with Down syndrome. It bothers me when people think of Down syndrome as something “unfortunate” that happens. No one prays to have a child with Down syndrome. I know I didn’t. However, there aren’t enough words to describe how grateful I am to God for giving me Austin. Ryan and I needed him. We didn’t know we needed him, but he’s exactly what we needed.
*This was taken on our way to the doctor*


  1. Great post. I look forward to learning more about translocation. Our little boy has the trisomy 21. Anywho - I agree with you...Down Syndrome doesn't just happen. All of these children have purpose and our lives are better for them.

  2. I know how you feel about the odds, I always roll my eyes when someone starts in about what our odds are.

    Austin is just beautiful and I love what you said about Austin being exactly what you needed. I feel this way about both my children.

  3. Wow - that kinda sounds like Cystic Fibrosis in that two people can both be carriers and not have any instances of it in their family - but when matched together can create the CF gene in a baby - it's crazy! I'm glad that they have a way to test to see if y'all are carriers so that you will know and be prepared in the future. Between you guys and us - we seem to end up being in the "rare" percentages - so why can't we ever be the people in the rare percentage pool who win the lotto?!

  4. I am so not a fan of scores and percentages (thanks for visiting and leaving a comment). The only thing I know and care about regarding numbers is that......that extra chromosome is nothing short of MAGICAL:) And we are all so blessed to be the chosen ones! Enjoy that sweet little boy of yours:)

  5. great post! I remember asking the doctor what Maddie had...he really did not have that answer...I need to check it!...it is so interesting to me!! but I am not sure why! cause lets face it..we love our babies enhanced! smiles

  6. Hello.. Our babies are just a few weeks apart- how exciting to "meet" another Mommy going through the same stage as me! Austin is adorable:) I feel exactly as you do- our babies aren't accidents! Looking forward to following your blog.
    God bless, Patti

  7. my grandaughter was just diagnosed with tranlocated trisomy 21 she is a gift. a true blessing. there are special reasons why God chose these children for you all. and im an truly blessed to have one for my granddaughter. Kaelyn is the sweetest lil peach.
    proud Nanny Donna

  8. o my God i love u even though I dont know u...my son also has downs syndrome he will be 3 months on the 26th of Feb. He has none of the problems that down syndrome babies normally have we took him to the pediatric Cardiologist to check his heart only thing he had was the atrial septum defect which alot of normal babies get neway except his is 2mm bigger than normal. He has been nothing but praises. He is super healthy and very strong he doesnt even have the low muscle tone. thanks so much for u blog. I love it. I will be praying for ur baby