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.
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*This was taken on our way to the doctor*