March is Trisomy Awareness Month

The arrival of March brings many things... St.Patrick's Day, Spring, Women's History Month, and, of particular interest to my family, Trisomy Awareness Month.

Three years ago I was not aware of trisomy syndromes. I could not have even told you that Down Syndrome is trisomy 21. However, I am now a trisomy mom. I would like to share with you some general facts about trisomy that I have learned over the last three years.

Trisomy -- three copies of a chromosome instead of the usual two -- can occur at any one of our 23 pairs of chromosomes. As each chromosome contains different specifications for our genetic makeup, having three copies of chromosome 13 (Patau Syndrome) results in a different syndrome than three copies of chromosome 21 (Down Syndrome). A syndrome is defined as "a group of symptoms that consistently occur together or a condition characterized by a set of associated symptoms." Some syndromes are characterized by heart problems and intestinal problems. Others are associated with kidney problems. Most have brain involvement that leads to some degree of intellectual disability. Even within each type of trisomy there are varying levels of severity. Some individuals with trisomy walk, some do not. Some need heart surgery, some do not. Some are verbal, some are not. Some require feeding tubes, some do not. The most common trisomy syndromes are trisomy 21, 18, and 13. There are children with trisomy 1, 2, 9, 14, 16 (and others) but they are much less common. Trisomy is a leading cause of early miscarriage although it may not often be diagnosed. The most common trisomies are the ones that are statistically most likely to go full term although there is still a high rate of miscarriage, stillbirth, and neonatal loss. Individuals with Trisomy 21 have quite a long life expectancy -- 60 years or more compared with a life expectancy in 1980 of 20-30 years. The other trisomies have much lower life expectancies but there are lots of individuals defying the odds.

Regardless of diagnosis, prognosis, and life expectancy, these lives are precious. They teach us about sacrifice, unconditional love, and unexpected joy.

Thank you for taking the time to learn more about trisomy. Check back as I will introduce you to several precious children with trisomy syndromes throughout the month!