21 for 31 - Day 18

Did you know?

Before the end of the month, I'm going to post a few blogs with some facts about down syndrome.  Today, I'll copy a few of them from the NDSS website, and comment on how these effect Colin!

• Down syndrome occurs when an individual has three, rather than two, copies of the 21st chromosome. This additional genetic material alters the course of development and causes the characteristics associated with Down syndrome.

       This is why my blog is titled "47 Pieces To Love."  A "typical" person has 46 chromosomes - 2 of each.  Colin's 21st chromosome has 3 attached to it.  It's been difficult to explain to Natalie what a "chromosome" is!  But she understands that's it what makes up a person. 

• The incidence of births of children with Down syndrome increases with the age of the mother. But due to higher fertility rates in younger women, 80% of children with Down syndrome are born to women under 35 years of age.

        I visit the babycenter down syndrome board on a frequent basis.  It's amazing how many 20-year old mothers there are on that board!  Many people think that it's just "older" women that have babies with DS.  NOPE!  You don't have to just be "old" - LOL!!  Just lucky!!  hehe  The first time I visited the geneticist, I was 12 weeks pregnant with Colin.  I was getting ready to have my quad screening done.  My OB sent me to see Dr. Zunich to talk to her about my chances of having another baby with a heart defect.  That was the main focus of our appointment.  I was 34 at the time - I would be 35 at delivery.  I remember the last thing we talked about at that appointment was my age.  She laughed and said my risk of having a baby with DS was not that much higher then a 31/32 year old.  I left that appointment feeling like it was all going to be ok!  Who knew that in a few short weeks we would be back in her office reviewing my amnio reports.  Yep, I was Advanced Materal Age!

• People with Down syndrome have an increased risk for certain medical conditions such as congenital heart defects, respiratory and hearing problems, Alzheimer's disease, childhood leukemia, and thyroid conditions. Many of these conditions are now treatable, so most people with Down syndrome lead healthy lives.

        I believe the percentage of babies with DS that are born with heart defects is around 50% - very high.  Once we had the Dx of down syndrome I had a fetal echo performed around 22 weeks.  Even without the Dx, I still would have had the fetal echo because of Luke and his heart defects.  Between the fetal echo, and monthly ultrasounds with the perinatologist, they were pretty comfortable that he didn't have any heart defects - or at least nothing major.  When he was a day old, they performed an echo in the hospital - ALL CLEAR!  He initially failed his hearing screening, but passed on round 2 before we left the hospital.  At 6 months old, he had another hearing screening and passed it.  He's due for his 12 month hearing screen.  He will have it checked every 6 months until he is 3 (I think!).  He has his thyroid levels monitored every 4 months.  The first time it was checked, he was 6 months old.  It showed some slightly elevated levels so we see a pediatric endocrinologist.  So far, we are just monitoring it - no medication yet.  She laughs that he is destined for thyroid problems though.  Between him having DS, and me having Hashimotos (auto-immune thyroid issue), he's leaning towards it!