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Monday, February 23, 2009

I want to include some basic information about DS in case you have any questions:

What is Down syndrome?: It is the most common of chromosomal anomalies, usually resulting in delays in physical and mental development.

What causes it? Down Syndrome is caused by an error in cell division, however it is not known why the error occurs. Most people have 46 chromosomes in each cell with each chromosome grouped into pairs. To form the egg or sperm, the cells divide, with 23 chromosomes to each cell. Then the mother and father each contribute 23 chromosomes to the baby to make a total of 46. In the case of Down Syndrome, the chromosomes do not evenly divide when forming the egg or sperm and the pair of number 21 chromosomes go to one cell and none to the other. The result is that when the egg and sperm combine, the resulting fertilized cell has 47 chromosomes instead of 46, and there are three number 21 chromosomes. This is why Down Syndrome is classified as Trisomy 21.

Did you know?

  • That one in every 800-1000 live births is a child with Down syndrome. This represents 5,000 births per year in the U.S.
  • The proper term is "Down syndrome" not Down's syndrome. In 1866, Dr. John Langdon Down was the first to describe the condition as a distinct set of characteristics. It is important to use people-first language. For example, a person with Down syndrome is not "a Downs child", "a Downs adult", or a "Down syndrome person".
  • Most children with D.S. are born to younger women. 80% of children born with D.S. are born to women younger than 35 years old. However, the incidence of births of children with D.S. increases with the age of the mother.
  • Most people with D.S. have IQs that fall in the mild to moderate range of mental disability, they are definitely educable and researchers are still discovering the full educational potential of people with D.S.
  • While many people with D.S. used to institutionalized, today people with D.S. live at home with their families and are active participants in the community. They are integrated into the regular educational system, and take part in community activities. They date, socialize, form ongoing relationships, and sometimes marry.
  • People with D.S. are not always happy like some people believe. They have feelings just like everyone else in the population. They respond to positive expressions of friendship, and are hurt and upset by inconsiderate behavior..

Sunday, February 22, 2009

Great strides, or should I say strokes (swimming)..

I am amazed by the talents of people with Down syndrome. Compared to decades ago, they are given so many more opportunities to develop their strengths and talents. Karen Gaffey is an accomplished swimmer and professional speaker who happens to have Down syndrome. I am hoping our new little one will enjoy swimming as much as his siblings. The following is a utube video of Karen swimming Lake Tahoe lengthwise and an interview with her on the Today Show.

Saturday, February 21, 2009

The Journey Begins

Would you like me to send positive energy to the baby?" This was asked by a friend who I happened to talk to immediately after I took a (+)pregnancy test last summer. I said that would be fine, who can argue with positive energy? I told her that the test was probably was a fluke, since the test color was very light and we had been trying unsuccessfully to get pregnant for quite a while. The next day I got my period. I happened to see the same friend the following day. I said "oh, disregard what I told you the other day." She said, "I know, but there is something I think I should tell you". My friend is very intuitive and told me how she was given information but did not have my permission to get this information, thus felt uncomfortable revealing it to me. I said "sure, bring it on". She went on to explain to me that the positive pregnancy test was a sign to me to keep trying to get pregnant despite being unsuccessful in the past. She also told me that there was a baby that wanted to come into our family but first we needed to make a decision.For the past year, we had been wavering on whether or not to make a move out of our hometown. We had been trying to get all of the details worked out before we actually commited or shared our plans with everyone. My friend told me that it was likely that this baby would only come to our family if we committed to move. Baby really wanted to be born in this new far away place where the weather is warm and his mom is relaxed. She said the baby would be very unlike Sam and Sophie, in a "relaxed, hang loose" way, similar to what it is like in Hawaii.August 2008: A few weeks after arriving in Hawaii, we were very surprised to find out that I was pregnant again. We were not trying that month due to moving.September-December 2008: Everything looked great with the pregnancy. I was dead tired during my first trimester. I began to notice how often I saw people with Down syndrome. Despite being on a small island, I frequently came into contact with kids and adults with Down syndrome at everyday places such as the pumpkin patch, Cosco, airport, hospital, ect.December 2008: We headed back to our hometown for Christmas and Brett's back surgery. We decided to schedule our 20 week u/s in Honolulu so we could bring the kids with and then hop on the plane for the 8 hour flight. We had decided to find out the sex of the baby, and the entire family could hardly contain their enthusiasm. As we gathered together in the dark u/s room, the kids saw for the first time images of their baby brother. They were in love with this baby, as were we! The u/s technician smiled and printed off a bunch of pictures for us. Then she said, "The doctor will be in shortly and will likely redo some of the u/s." I thought that was a bit unusual.Almost immediately after the technician closed the door, the doctor walked in. He had a serious expression on his face, and shook our hands before sitting down to squeeze more cold gel on my abdomen. The first thing he said was, "So can you tell me why you did not have any prenatal testing done considering your advanced materal age?" As I was getting ready to answer he said, "You know you have an increased risk of chromosomal abnormalities". I felt like I needed to defend myself. I explained how I had never done those tests with my other pregnancies because of the high false positive rates. The doctor did not respond. He continued the u/s and then spoke again, "We are finding markers that indicate a chromosomal abnormality". He went on to point out the multiple markers that were found. He then said "While a few parents choose to keep babies like this, the majority will terminate". Sam, although only seven years old, came over and held my hand. I am guessing he was not familiar with the term "termination" or the situations surrounding it, but he certainly knew his mom needed his sweet hand to hold.After arriving in Minnesota, Brett and I went to the U of MN to have an amniocentesis. A few days before Christmas we were given the results that our baby had an extra 21st chromosome (Trisomy 21/Down syndrome). Relieved that it was not a more severe diagnosis, we quickly came to the conclusion that we were meant to travel a different path than originally thought. We felt blessed that he was extraordinarily healthy without signs of heart or other complications. An unexpected Christmas gift.