Thursday, December 4, 2008

Children's Mercy Genetics Clinic Visit

Today we visited Children's Mercy Hospital's Genetics Clinic (everyone is first evaluated and talked to by the genetics staff before going on to the down syndrome clinic). We met with a genetic counselor and then a great geneticist who discussed what causes down syndrome and answered all of our questions that we had about the genetics part of down syndrome. (If you are still unsure of the cause read on in red, if you already know skip down to the black text again)

What Causes Down Syndrome
The human body is made of cells. All cells contain a center, called a nucleus, in which genes are stored. Genes, which carry the codes responsible for all our inherited characteristics, are grouped along rod-like structures called chromosomes. Normally, the nucleus of each cell contains 23 pairs of chromosomes, half of which are inherited from each parent. Down syndrome occurs when some or all of a person's cells have an extra full or partial copy of chromosome 21.
The most common form of Down syndrome is known as Trisomy 21. Individuals with Trisomy 21 have 47 chromosomes instead of the usual 46 in each of their cells. The condition results from an error in cell division called nondisjunction. Prior to or at conception, a pair of 21st chromosomes in either the sperm or the egg fails to separate. As the embryo develops, the extra chromosome is replicated in every cell of the body. This error in cell division is responsible for 95 percent of all cases of Down syndrome. For more facts about Down syndrome

We were thrilled to learn that Alayna has now caught up to Aidan's birth weight and length. As of today she is 8 weeks old and 7 pounds 14 oz. and 19 3/4 inches long. YAHOO!!! (I knew those newborn diapers were getting snug).

We have an appointment on April 1, 2009 at the Down Syndrome Clinic. This will serve as a consultative service and screening for Alayna yearly through adolescence on top of her routine visits with our family pediatrician. A team of professionals will meet and review Alayna's needs then will problem solve to help improve her quality of life. The team consists of: a pediatric geneticist and nurse practitioner, a genetic counselor, a registered dietitian, an occupational therapist, a behavioral psychologist, a clinic coordinator, an audiologist, and a speech pathologist. This clinic is not something we HAVE to do rather something we are going to try out to see if it is helpful to our family in providing more eyes in which to evaluate Alayna and make suggestions on how we can help her meet her goals. Will let you know more after April 1st.

Alayna is all decked out in her ballet outfit!

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