Interesting article about Down syndrome research from Science Daily:
Mar. 24, 2013 — Researchers have discovered that the extra chromosome inherited in Down syndrome impairs learning and memory because it leads to low levels of SNX27 protein in the brain.
What is it about the extra chromosome inherited in Down syndrome -- chromosome 21 -- that alters brain and body development? Researchers at Sanford-Burnham Medical Research Institute (Sanford-Burnham) have new evidence that points to a protein called sorting nexin 27, or SNX27. SNX27 production is inhibited by a molecule encoded on chromosome 21. The study, published March 24 in Nature Medicine, shows that SNX27 is reduced in human Down syndrome brains. The extra copy of chromosome 21 means a person with Down syndrome produces less SNX27 protein, which in turn disrupts brain function. What's more, the researchers showed that restoring SNX27 in Down syndrome mice improves cognitive function and behavior. Continue Reading...
One year ago today, on 3/21, I remember checking Facebook and seeing various pictures of people with Down syndrome and a reference to 'World Down Syndrome Day.' With the thought of Matthew's sandal gap in my mind, those posts allowed me to learn a little bit about Trisomy 21, even though I didn't know that I would have my own baby with an extra chromosome just a few weeks later! That's the reason why this day was created (on 3/21, for 3 copies of the 21st chromosome)- to bring awareness to Down syndrome and educate those on a cause that has so many misconceptions and generalizations. The kids and I started our homeschooling day by talking about Down syndrome and watching this video, created by the International Down Syndrome Coalition:
They liked seeing all of the faces on the videos and Michael Jr. thought that the little boy in the last frame looked like him (with his 'spiky hair,' the same hairstyle that we give him after baths). After the video I read them We'll Paint the Octopus Red on my iPhone, choking up as I got to the end of the story. Free on iTunes, you should check it out if you haven't already!
This was my favorite image from today:
That little boy, named Michael, is the son of Doug Billings, who speaks about him here:
Through this new little journey of ours, we have been able to meet so many others who are a part of this community, both in person and virtually. In addition to our local group, Facebook has been a great outlet in joining together with other moms who have kids around Matthew's age. We have all experienced similar thoughts through this whole process in a short period of time and I know I can always look to them for advice and encouragement. However, I need to give a huge shout out to all of our family and friends, who have always been supportive during this past year. I'm feeling the Matthew love today! Next up, Easter and his 1st birthday!
Today was an exciting day as we followed the election of Pope Francis! I had been teaching about the papacy during school lately and Maria and Michael have been talking a lot about the black and white smoke. I appreciated how interested they were in the whole process and how two different colors of smoke could get the point across to them so well. They were in naps when I saw the white smoke, so I called them down to see the coverage on EWTN. Habemus Papam!
This may not seem like a big deal to most, but Matthew had a big accomplishment today- going from being on all fours (quadruped) to sitting. We've been working on this a lot during PT and Matthew has always resisted a lot. His therapist encouraged him to get into the sitting position by either starting in a side-lying position or on all fours, he chose the latter. We are proud parents tonight!
We're in the midst of tax season and Michael continues to work long hours throughout the week. Bedtime is a special time for daddy and his kids, especially for Matthew. Lately they've been playing the monster game, where an undressed Matthew goes after his siblings.
We had a night out at the Mid Hudson Children's Museum with the Down Syndrome Association of the Hudson Valley tonight. We were happy to meet some more families, including some that will be in a playgroup for the younger kids (0-3 y/o). The closest in age to Matthew was an adorable little girl, just 1 week older. I wish I had some pics of the kids together but here's a little video of Matthew enjoying himself.
We went to Bear Mountain for a little ice skating today. Coincidentally Matthew was dressed in his warm bear suit, so of course, I had to take some pictures of our little bear at Bear Mountain. We are looking forward to when Matthew can join his siblings ice skating when he's older!
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