In this book that I am reading, Babies with Down Syndrome there are parent statements at the end of each chapter. I find it intriguing that some parents would be so concerned about the appearance of their precious little one when there are these lingering potential health issues. One little extra chromosome...
I said that there would be good days and there would be bad days. This has been a bad week. Ella is 6 weeks today and the emotional load of this reality as well as the hormonal imbalance finally caught up with me. At no fault of Ella’s might I add. I couldn’t ask for a better baby. She sleeps regularly from 9:30pm-6:00am, rarely cries and is ever tolerant of her big brother pawing at here incessantly. I just have to remember that this too shall pass and there is no sense worrying about things that haven’t even happened. God gave us the grace to accept the diagnosis and I am sure will carry us through whatever other health problems Ella might face.
For those that are interested here is the summary report that we received from the Genetics Specialist:
This letter is to summarize the information we reviewed about Down syndrome at the Medical Genetics clinic on June 29th, 2009. As you are aware, Ella’s chromosome studies (karyotype0 demonstrated three copies of chromosome 21, confirming the diagnosis of down syndrome. Her karyotype is 47, XX, +21
Down syndrome is caused by a chromosome number difference. Chromosomes contain the genetic material inherited from our parents. Normally our cells contain 23 pairs of chromosomes, 46 in total. For each pair we receive one from our mother and the other from our father. Chromosomes are numbered from 1-22 and the last pair determines the sex, XX for girls and XY for boys.
Ninety six percent of individuals with Down syndrome have an extra copy of chromosome 21, trisomy 21 (rather than two copies), and have 47 rather than 46 chromosomes. This is what was seen on Ellas chromosome studies.
Individuals with Down syndrome have both features simiar to family members and features they share with other individuals with Down syndrome. Some of the features include eyes that slant slightly upwards, smaller ears, single crease across the palm and decreased muscle tone. About 40-50% has a heart abnormality. Ella has been referred for an echocardiogram to assess her heart.
Ella has features of Down syndrome including slightly decreased muscle tone, upslanting palpebral fissures, an epicanthal fold at the eye, single palmar crease on the left hand, and slightly increased space between the 1st and 2nd toes.
It is not possible to determine how Ella will do based on her chromosome studies. As there is variability in the development of all children, there is variability in individuals with Down syndrome. The majority have mild to moderate mental retardation and learn to walk and talk a little bit later than other children. They benefit greatly from early intervention programs that help them reach their maximum potential. I have referred you to the Down syndrome Clinic at Alberta childrens Hospital, which is a team of multiple health professionals that can help with that.
Individuals with Down syndrome are at slightly higher risk for certain health problems and it is important that Ella be followed by someone who can anticipate and screen for these conditions, such as a Down syndrome Clinic.
As previously mentioned, Ella has three copies of chromosome 21, which is the cause in over 96% of individuals with Down syndrome. This occurred during the development of either the egg or sperm and is known to occur by chance. We know that this is not caused by anything that the parents have or have not done. The incidence of Down syndrome is approximately 1 in 800 live births and is the most common chromosomal abnormality seen at birth. If you decide to have more children, the risk of having another child with Down syndrome is approximately 1%, if Krista you are under the age of 35 or your age-related risk if over the age of 35 (meaning the same risk as other women your age when over the age of 35). You are eligible for prenatal testing including first trimester screening which includes: 1. An ultrasound and blood test or 2. Maternal serum screening in a second trimester, which involves a blood test, and, or amniocentesis. WE would be more than happy to review these options with you early on in any future pregnancy. There is increased risk for other family members.
So there you have it…[gallery]