Mosaic Trisomy 16

While looking for some news about any recent cases of Trisomy 16, I found a very interesting foundation, Disorders of Chromosome 16 (DOC16). On the website, I found some very touching stories of normal people who had children with Mosaic Trisomy 16, and of ways the organization could help.

I found Leyna's story, a girl suffering from Mosaic Trisomy 16. Only 19 weeks into her pregnancy, Leyna's mother, DeAnna, was told by doctors that Leyna was measuring two weeks smaller than what she should have been. He told her that it would be best to have an amnio, as he feared it was a chromosomal disorder. Towards the end of the 22nd week of pregnancy, the amnio showed that Leyna had a rare chromosomal disorder, Mosaic Trisomy 16. He pushed for abortion as he warned the family about potential heart problems, facial deformities, and severe mental delays. In America, it is illegal to abort after 24 weeks, meaning that the couple had only a few days to make a decision. With the hope given to them when they found the foundation, Don and DeAnna decided to go forward with the pregnancy. On August 11, 2010, at 2:12 PM, Leyna came to life. She was puny. Weighing only 2lbs., 4oz. (1.02 kg), and just 14 inches long (35 cm) (see fig1). After 14 months, Leyna had gone through physical theory several times, but she was perfectly fine, a "boring child," as the doctor had said to DeAnna right after birth.

Leyna right after birth, Don's finger to give some sort of scale

I did a little research on Mosaic Trisomy 16, and I ended up looking at the same website. I found that Leyna is one of the few people around the world to have this disorder, and of the fewer to be as physically and as mentally in shape as she is. I found many interesting facts about the chromosomal disorder. Mosaic Trisomy 16 is different from Full Trisomy 16, because an extra chromosome 16 is present in some, but not all cells of the organism. It is extremely rare because children with this disorder usually have Full Trisomy 16, most likely leading to a miscarriage. The affects of Mosaic Trisomy 16 are very large numerically, but the most common ones are, as the doctor told DeAnne, facial deformities, mental delays, problems with the digestive system, heart defects, and slow growth. The fear of many parents is to see their baby come out, but not cry. If a new-born baby does not cry, it isn't alive. Mosaic Trisomy 16 enables the babies to be born alive. Reading through an article about miscarriages, I found that sometimes the chromosomal disorders are mixed up, as it can occur that the chromosomal cells of the placenta can have Full or Mosaic Trisomy 16, but the child is chromosomally fine. The article says that Mosaic is caused by the error in cell division during fertilization being corrected in some, but not all cells of the body.
It is important for us to know about these chromosomal disorders because it gives us a better understanding of the world around us. For all our lives, most of us have been taught that the world is a perfect place for everyone, and that everyone is equal. The truth is that we're not equal. Children suffering from Mosaic Trisomy 16, like Leyna, live different lives than kids without chromosomal disfunctions. They have to go through hours of physical therapy, sometimes every day.  We think we know what it feels like to go through pain, but they go through it every day. Maybe this was Don and DeAnne's mentality before they knew about Leyna's problems. The wider implication of this story, of this foundation, is to show people that the world is a big place, and there are many different people out there. The point of the foundation is to help people in need, and to show other chromosomally normal people that there are people out there who need help. Just like Leyna.