Genetics

When Colton was 4 weeks old, we took him to Children’s Hospital to meet with Genetics. Luckily, they have a campus that is out west, so we didn’t have to travel to the main hospital. That office is so much easier to get in and out of, so I try to go there whenever possible. We were told that we’d discuss the results of the Genetic Test they ordered in the hospital right after he was born. It was pretty much like a normal checkup for Colton. They weighed and measured him and looked at his eyes, ears, mouth, etc. A Genetic Counselor came into our room to talk to us about Down’s Syndrome. She soon realized that we had done plenty of research and were pretty familiar with DS. She did explain the 3 different types of DS: Mosaic, Non-disjunction (Standard), & Translocation. We were really interested as to what type Colton had, not because it would really change anything about how he would grow and develop, but because it would tell us whether or not we’d be likely to have another child with DS, should we choose to have any more kids. Here’s how she described all 3 to me…

1. Mosaic: Some cells in the body have 3 copies of the 21st Chromosome; however, as the cells multiplied, the body realized that there shouldn’t be 3 copies, so some of the cells corrected the error. This means that some cells have 3 copies of it, while others only have 2 copies of it. This type is very rare. Because the levels of mosaicism vary between individuals and within the cells of those individuals, the effects of mosaic DS can have significant variations. The Geneticist told me that this isn’t necessarily a better type to have. She’s seen someone with Standard Trisomy 21 that was more functional than a child with Mosaic DS. You just never know...

2. Non-Disjunction (Standard Trisomy 21 or t21): All cells in the body have 3 copies of the 21st Chromosome. This is the most common type (90% of cases). It is like a spectrum, so not all kids will have the same functionality. Generally, couples who have had one child with DS have a slightly increased risk (about 1 %) of having a second child with DS.

3. Translocation: Part of Chromosome 21 becomes attached to another Chromosome (ex: 13, 14, or 15) before or at conception. The carrier will have 45 chromosomes instead of 46, but they will have all of the genetic material of a person with 46 chromosomes. This is because the extra chromosome 21 material is located on a different chromosome. Confused yet? This one is very rare, as well, but if this happens, there is a higher risk for having another child with DS. (If Dad is the carrier- 3% chance. Mom-12% chance).

The Genetic Counselor said she hadn’t seen our results from the hospital, so she’d go call them and have them fax them to the office. We were a little frustrated because it had already been 4 weeks and we were under the impression they had the results or they wouldn’t have made the appointment to meet with us. She was gone forever and finally came in to tell us that they didn’t have the results. Apparently, the test in the hospital was ordered but never completed. ARE YOU KIDDING ME????? We’ve been waiting for results for 4 weeks of a test that was never done??? I was so mad that I went home and cried. All I wanted was to know what type of DS my son had. They told me in the hospital that he had DS, but no tests were ever done to verify it. It had to be a blood test that was sent off to another lab. So….they told me that I’d have to take him to the main hospital of Children’s the next day in order to have blood drawn. I had to go alone, which made it pretty difficult. We had a HORRIBLE experience. The lady that was drawing blood was by herself. I had to sit in a chair and hold Colton while she drew blood. She started with his left hand. She was able to get some blood out, but not enough for an entire sample. She decided to try his arm. She was able to get blood out; however, she accidentally bumped the needle and it fell out in the middle of the draw. Blood started pooling on his arm and dripped all over my pants. She had to prick him a 3RD time in his right hand. She finally was able to get enough blood for a sample. By the end of this process, I had a screaming baby because he had to be pricked in three different places. I was dripping sweat and trying my best to stay calm. Colton was also so hungry by the time were done that I had to feed him in the office before we could leave. The nurse apologized and said this never happens. She also sat there and tried to get the blood out of my pants for 5 or so minutes. Whew…what an experience. Luckily, when we left there, Colton’s blood was sent off to the right place to be tested. We got the results 2 weeks later. The Genetic Counselor called me over the phone to give us our results. They looked at 6 cells and determined that all 6 cells had 3 copies of the 21st Chromosome. Colton has Non-Disjunction (Standard Trisomy 21). That’s pretty much what we figured he’d have, but we still wanted to make sure. So…if we choose to have another child, our chance of having another baby with DS is about 1%. It still makes me a little nervous to think about it, but why worry when obviously I AM NOT IN CONTROL! Let go and let God!