First, in case you don't know already, Down syndrome, also called Trisomy 21, is a genetic condition that causes delays in physical and intellectual development. It occurs in one in every 691 live births. Individuals with Down syndrome have 47 chromosomes instead of the usual 46. It is the most frequently occurring chromosomal disorder. Down syndrome is not related to race, nationality, religion or socioeconomic status. The most important fact to know about individuals with Down syndrome is that they are more like others than they are different. Down syndrome is usually identified at birth or shortly after. Initially the diagnosis is based on physical characteristics that are commonly seen in babies with Down syndrome. These include low muscle tone, a single crease across the palm of the hand, a slightly flattened facial profile and an upward slant to the eyes. The diagnosis must be confirmed by a chromosomal study (karyotype). A karyotype provides a visual display of the chromosomes grouped by their size, number and shape. Chromosomes may be studied by examining blood or tissue cells.
Genes on an extra copy of chromosome 21 are responsible for all characteristics associated with Down syndrome. Normally, each human cell contains 23 pairs of different chromosomes. Each chromosome carries genes, which are needed for proper development and maintenance of our bodies. At conception, an individual inherits 23 chromosomes from the mother and 23 chromosomes from the father. However, sometimes a person inherits an extra chromosome from one of the parents. In Down syndrome, an indiviual inherits three copies of chromosome 21. About 95% of individuals with Down syndrome inherit an entire extra chromosome 21. Approximately 3% to 4% of individuals with Down syndrome do not inherit an entire extra chromosome 21, but just some extra chromosome 21 genes, which are attached to another chromosome (usually chromosome 14). This is called translocation. About 2% to 4% of people with Down synrome inherit addional genes from chromosome 21, but not in every cell of the body. This is known as mosaic Down syndrome.
Before Sophia was born, I knew basically nothing about Down syndrome. Education is the key to inclusion and acceptance. By me blogging about my experiences, thoughts and feelings and putting a few statistics here and there, I hope to make people understand that Down syndrome is not a death sentence, but one of the biggest blessings that you could ever ask for. Sophia is perfect in every sense of the word. She is amazing and I could never imagine my life without her in it!