Saturday, October 4, 2014

Down Syndrome Awareness Month

October is Down Syndrome Awareness Month, and we in the blog-sphere try to do "31 for 21". I've been posting on Facebook, but I'll try to put them here, also. So, to catch up, here are my first four posts:

October 1

October is Down Syndrome Awareness Month. We were SO ready for Sofia to be born with that extra chromosome! Apparently it is possible to be TOO early for Early Intervention - when I showed up 5 months pregnant, they suggested I come back when I actually had a baby! The social workers in the hospital laughed because they had never sent home a child with DS to such a prepared family.
Nowadays, she still makes us all laugh!

October 2

31 for 21: Down syndrome is a genetic disorder caused when abnormal cell division results in extra genetic material from chromosome pair 21. This extra piece of material is called a Trisomy, in this case Trisomy 21 (an extra piece on the 21st pair). This genetic disorder, which varies in severity, causes lifelong intellectual disability and developmental delays, and in some people it causes health problems. Down syndrome is the most common genetic chromosomal disorder and cause of learning disabilities in children. It was named for Dr. John Langdon Down, the Cornish physician who first described the condition.
Since October is Down Syndrome Awareness Month, and since October has 31 days, and since Down syndrome is also called Trisomy 21, I will be attempting to do 31 posts, one per day, in honor of Down syndrome. 31 for 21. Get it?

October 3

31 for 21: We first knew Sofia might have an extra chromosome when my early blood-work came back with indications. Ultrasound also suggested some factors for DS - specifically a shorter-then-average femur and an echogenic focus, a small bright spot seen in the baby’s heart on an ultrasound exam, which may mean small deposits of minerals or calcium. My brother-in-law, a peri-natologist, saw the same factors on ultrasound, but said that the baby was in perfect position for an amnio. So we went ahead with the amnio, just to be positive. Babies with Down syndrome are at higher risk for being born with heart defects or other health issues, and I wanted to make sure we had the correct care lined up for her.
So we shifted our care into Boston, and had three fetal echocardiograms before she was born. It was clear she had some minor heart issues.
But fortunately, her cardiac issues have indeed been minor. She had an echo just a few hours after she was born, and then we followed up with many others, but she has never needed treatment for her heart. This past summer's checkup was excellent. The doctor wants to do one more echo, in a few years (she's not the most cooperative right now when it comes to the EKG, and the last time she had an echo, she had to be sedated). But we think most of her heart holes have closed up nicely. We are so lucky!

October 4

31 for 21: If you saw me today at shul, you might have noticed that I was more frazzled than usual. Sofia was having "A Day". That extra chromosome often comes with what is sometimes called "Stubbornness" and sometimes called "Determination". She was extra-determined today, to go inside the school wing rather than into the service in the tent (we ahve a giant tent which seats 400 for services, while the sanctuary and social hall seat 900). She was extra-determined to go to the pre-school wing rather than the religious school wing. She was extra-determined to do whatever the hell she felt like in Rav Shira's service (for grades K-1) rather than whatever Rav Shira had planned (although she totally surprised me by quickly calling out the answer when Rav Shira asked "What does 'Sh'ma' mean" - "HEAR!")
That extra stubbornness/determination certainly gets Sofia a long way in life, but sometimes it is just plain exhausting to go up against. Especially on a day when I am fasting (for Yom Kippur) and have not had any coffee.
I took a little break (thank you, Laura Rothkopf for watching her) and took a walk around the parking lot with another Special Needs mom, who has a grown daughter with cognitive issues. It was nice to be with someone who could totally relate to how I felt, and who had some good words about those loosing battles we sometime face with our kids. "Let It Go" - sometimes I need to be reminded of that.
Later, David asked me if Sofia had been bothering other people. I was really not at all aware of how other people were seeing her. I just know she was bothering ME. And not behaving the way I wanted her to behave. And not allowing ME to do what I wanted to do (I never even made it in to adult services this morning). So was it only MY problem? And does it matter?