The Sie Center: Day 1

Typical visits to the Sie Center are set up so that you first meet with the doctor and team of therapists and then with the geneticist so the geneticist can discuss the doctor’s notes with you. However, because we were driving in from out of town, our visit ended up backward. They worked out the appointments so we could drive in Wednesday for the first one and then have the second one first thing Thursday morning and drive home. Anyway, we saw the geneticist first so that’s what I’ll write about first!

Most of what the geneticist told us we already knew. But it was still nice to hear it “officially.” Here’s what we discussed:

1) There are three types of Down syndrome.

  • Nondisjunction. Occurs when either the egg or sperm has 2 copies of chromosome 21. When fertilization occurs the extra chromosome causes Down syndrome. This accounts for 95% of all cases of Down syndrome
  • Translocation. Occurs when a part of chromosome 21 breaks off during cell division and becomes attached to another chromosome. This accounts for 3-4% of cases of Down syndrome.
  • Mosaicism. Occurs when the error in cell division happens *after* fertilization. This causes some cells to have a third copy of chromosome 21 while other cells are normal. This accounts for 1-2% of cases of Down syndrome.
Daniel has nondisjunction Down syndrome. We knew based on the karyotype results that it wasn’t mosaicism, and we were fairly certain it was nondisjunction but we wanted to hear that for sure. It doesn’t matter in terms of his development, but if it were translocation my odds of having another baby with Down syndrome jump to 1 in 10. That would play a HUGE part in our decision to have/not have more kids.
2) In any case, my odds of having another baby with Down syndrome are still raised. Based solely on my age, my risk is about 1 in 1000. Now, because I’ve had a baby with Down syndrome, my odds are 1 in 100. However, the odds are not higher for my siblings or my children.
3) People with Down syndrome are more likely to develop autoimmune problems including thyroid problems, diabetes, and celiac disease. They are also more likely to develop leukemia, but the chances of that are still low. Vision problems are common (60% of children with Down syndrome) as is hearing loss (75% of children with Ds.) So far Daniel has no problems with any of these things, but we’ll be testing regularly. 
4) Physical characteristics are not an indicator of the degree of intellectual disability he’ll have.
We spent an hour or so with the geneticist, his assistant, and a resident who was sitting in. They were great. They answered all our questions and were not at all patronizing or condescending (two things I hate.) And there you have it! Next up, our visit with the doctor and therapist.

5 thoughts on “The Sie Center: Day 1

  1. I find the genetic end of things SO fascinating. Iris is followed by a geneticist due to being born with a host of things not related to her prematurity and it never stop being amazing how they can look at her DNA and possibly predict what will happen for her down the road, but also for her children.Off to read Day 2…

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