Down Syndrome- What I know about it

I spent a lot of time reading about Ds in the past 6 weeks (oh, by the way, Annelies is 6 weeks old today). Here is a synopsis of what I know so far (kind of what we learned in Biology, but for me it has been a while).

Ds is also called Trisomy 21 (Tri = 3). The most common type of Ds is called Nondisjunction, approximately 95 % of people with Down Syndrome have this type and I am pretty sure this is the one Annelies has (we will know for sure once we speak with the Geneticist). Nondisjunction Ds is the failure of one of the reproductive cells (can be the sperm or the egg) to separate during meiosis (this is when the cell divides- normally it would divide into 2 sets of 23 chromosomes. In this case, it divides into one set of 22 (dies off) and one set of 24 chromosomes. When it comes together with the other reproductive cell which carries 23 chromosomes, there is a total of 47 chromosomes instead of 46 (the normal amount). The extra chromosome is an additional 21st chromosome, so instead of 2 21 chromosimes, a person with Ds has 3 of them. Because the 21 chromosome is smaller than the others (it is the smallest one) it carries less genetic material than all the others, and T21/ Ds is survivable as opposed to Trisomy 18 which is much less so.
Approximately 4-5% of people with Ds have "Translocation Trisomey 21". In this case, the extra 21 chromosome attaches itself to anothe chromosome, usually 14, which also results in 3 copies of chromosome #21. As in Nondisjunction T 21, approximately 75 % of cases of Translocation are caused 'spontaneously' during fertilization. 25% of cases of Translocation can be inherited from a parent who has a genetic abnormality, called a 'balanced carrier'. This person has no symptoms and would never know they are a balanced carrier until they have this genetically researched.
A picture of a person's chromosomes is called a "Karyotype", we will have a copy of this for Annelies once we see the Geneticist, and I will post it. Much research is still being done as to specifically which genetic information is located on that 21st chromosome, a lot has been found already and helps in determining what people with Ds should be aware of.
Having this extra chromosome affects individuals in different ways, most significantly health wise. I learned that Ds in itself is the least of your worries. Here is the list of health issues we are grateful we don't have to deal with at the moment:

1. Approximately 50% of people with Ds are born with congenital heart defects, many require surgery in the first 6 months of their lives.


2. Gastrointestinal problems, partial or total block in the part of the duodenum (just beyond the stomach). Occurance approximately 7 %. Higher occurance of Hirschsprung and Celiac desease. Also possible problems are reflux and constipation, caused by decreased muscle tone. Neither of these are problems for Annelies, and with a healthy diet she should not have constipation issues.


3. Decreased muscle tone: Depending on how low the muscle tone is, this affects motor development. Much is done to help with Physical Therapy /Early intervention. Annelies has Low-Normal muscle tone, meaning it is low cpmpared to 'regular' babies, but still in the normal range, and on the high end compated to others with Ds. I am so grateful for this.


4. Higher occurances of Umbilical hernia's, Epilepsy.


5. One to be aware of is Atlantoaxial Instability: Too much movement between the first and second vertebrea in the neck, 15% occurance rate. This may cause spinal cord damage if not detected and fixed. Annelies will be screened for this around her 3rd B day. If this is a problem, the treatment is surgery. I am hopeful that in the next years, advances will be made for this problem.


6. Sight and hearing will have to be screened on a regular basis, probably every 6 months. To me, these are things that can be fixed and I am not afraid of them, but it is so important to catch any possible issues with sight and hearing since they would hamper development.


7. Higher occurance of Leukemia


8. There are more, but these were the hard hitters for me.

I have been told (and I agree) that this is the best possible time to have a disability. So many advances have been made. Open heart surgeries that were not possible even 15 years ago are now routine.

We plan to live out lives on a day to day basis, without getting too freaked out about what the future holds for Annelies. I see her horizons the same as I see them for Marco, with many opportunities to find out what she enjoys, and build on that. Kids with Ds go to college these days, they play sports, they live on their own, get married, etc. She will have the best of the best of early intervention and therapy to help her on her way, but she will also be expected to live a 'normal' life. When I go back to work, she will attend the same day care Marco goes to, they have already welcomed her with open arms.

There is no reason for me not to be positive and hopeful for our future.

Dec 30: One Month Checkup at the Pediatrician

Hard to believe it has been a month already! Annelies has been eating well, and growing. We had a good checkup today. The Pediatrician (Dr. Hopper in Roseville) is AWESOME. I am so glad I found her all these years ago, she has been our family Doctor, Marco's Pediatrician and now also for Annelies. She is about my age, so a lot of her training is pretty current. She has experience with Ds, and has high hopes for Annelies. We had a long talk about how even in the last 10-15 years, many things have changed. Kids with Ds are getting better and better guidance and health care, and are growing/thriving better than ever before. The charts that show the averages are just that, it can be normal to be above or below those average numbers.
Annelies was 21 3/4 inches tall and weighed in at 9 lbs 8 oz. These numbers put her in the 80-90 percentile on the 'regular' charts (Dr Hopper is going to keep her on those for now). Her head measured in the 40th percentile (that is significant because kids with Ds can have smaller heads, from the latest numbers I read they tend to be in the 3rd percentile on average. )
Overall, I am not too worried about those percentiles. I almost drove myself crazy keeping track of the numbers with Marco (first child, you want all indicators to be good...etc etc).
Overall, I think it is good to know where you stand and to keep track of the growth but it is good to know what is normal for the child, what are his/her own trends, and if they deviate from that, then you can figure out why that is.
For Annelies' sake, I am glad she is growing and gaining weight. I think it is normal to feel that way about any child, though. It is just that after reading so much about Ds, there can be so many problems, it is nice to see that so far, she is good.
At one month, Annelies holds her head up at a 45 degree angle for a half a minute, while laying on Aaron's chest. She also holds her head up when she is picked up, most of the time. Her muscle tone is very decent (it was described to me as low-normal).

Some background and some stuff I left out of earlier posts...

Happy New Year, Everyone! I hope this will be a good one for all of us.

It was pointed out to me that I left out some vital info about Annelies, mostly because I was so glad that her health is so good...


At birth she weighed 8 lbs. She was born at 40 5/7 weeks of gestation. She was 19 3/4 inches long.

At 4 weeks (on Dec 30), she weighed 9.6 lbs and was 21 3/4 inches long. These stats put her in the 80-90 percentile for baby girls. The Pediatrician suggested we can keep her on the regular charts until her growth changes, then we can use the ones generated especially for people with Ds. I am good with that, I know that she will not be expected to be as tall as I am, but maybe she will be tall for a person with Ds. Even with my son, I checked him on the charts really closely the first year or so, then I started to relax about it. As long as they eat healthy (Marco likes vegetables and fruit) and are active, I don't want to be too freaked out about their growth & weight.

Since I was 37 when I became pregnant, I did the first trimester triple screen. I was well aware of the stats for Ds, because I went through the testing with Marco. (Marco will be 2 on Jan 21st). The triple screen came back with 1 in 470 odds for Ds, and 1 in 7000 for T18. (With Marco they had been similar). Odds at my age alone would be 1 in 130, so I felt really good about the new numbers (they had been similar for Marco). These numbers gave me no reason to do an amnio (besides, I heard that an amnio carries risks with it in itself). The 20 week echo revealed nothing wrong, all the measurements were normal. I had 2 heart echo's also, this is due to a heart issue my Dad has that I disclosed on my medical information. Annelies had no heart problems (At that time I had no idea that heart problems happen to such a large percentage of kids with Ds).
Back in the fall, I was watching election coverage on TV (there was nothing else on) and I remember seeing Sarah Palin with her little guy. I remember wondering how in the world she could be so upbeat and positive, and thought: "If I had a baby with Ds I would NOT be able to handle it". The next thought was (as I looked at my stomach): "What if you DO have a baby with Ds?" Then: " Nah...the tests came back so well...one never gets dealt more in life than one can handle, so I REALLY don't have to worry about it." Now I look back and think that this was some kind of gut feeling. Really weird and interesting.
I guess no matter how you vote, it was nice to see Ds be brought to the mainstream public vision a little bit more, and I hope to see more of it (and will find ways to work on that).
With the tests the way they were, I just know Annelies is meant to be here. Had the test results been squirrely, we would have had such a difficult time, especially because neither Aaron nor I knew a thing about Ds. If I allow myself to think about it, it freaks me out that I might have let myself be swayed towards a decision I could have regretted for the rest of my life. The way she 'squeeked' under the wire with all the tests just shows that she was not only meant to be here, but determined to be here.