Mia’s Life With Mosaic Down Syndrome

Pearse Connell '24, Guest Writer

A five year old girl named Mia Smith was diagnosed with Mosaic Down syndrome when her mother, Leslie Smith, was in her eleventh week of pregnancy. Down syndrome occurs when there is an extra chromosome on chromosome 21. This occurs when there is unusual cell division during the development of the sex cells (sperm and/or egg cells). Mosaic Down syndrome occurs when some cells have an extra chromosome copy on chromosome 21 and the rest of the cells are normal with two copies of chromosome 21. Leslie Smith found out her child had Down syndrome by having a procedure done, called chorionic villus sampling (CVS). The procedure is done by collecting a small sample of cells from the mothers placenta, and it is a quick procedure as it only takes ten minutes. Although Mosaic Down syndrome is the rarest kind of Down syndrome as only two percent of the population of people with down syndrome have it, 1 in 27,000 babies are born with Mosaic Down syndrome (IMDSA). Although it is the rarest form of down syndrome, it is the mildest form. Most of the time, individuals that have Mosaic Down syndrome have fewer symptoms of Down syndrome because some of their cells are normal.

Recently Mia and her family learned that people that have Down syndrome age faster, and Alzheimer’s disease is common among people with Down syndrome. Scientists have begun running studies and trials on the connections between Down syndrome. Scientist Joaquin Espinosa reports ‘“People with Down Syndrome give us a unique opportunity to understand what modulates the severity and the progress of Alzheimer’s disease’” (Hamilton). Mia and her family wonder what will happen when Mia gets older and if she will be affected with Alzheimer’s as well. But with the knowledge Leslie Smith has that they are doing trials on this issue, Leslie Smith feels confident that by the time Mia is older, there could be a procedure done to stop or lessen the chance of her getting Alzheimer’s. Another scientist, Meharena reported that ‘“At the very least, we hope it opens up new avenues for how we look at Down syndrome — that there seems to be this whole other element that plays on a different timeline that we really need to explore more”’ (Molteni). Mia and the rest of her family feel relieved that scientists are working on this issue, and that by the time Mia reaches her 40s and 50s. Mia’s family is thankful that Mia can live a long, happy and fulfilled life.