Monday, October 27, 2008

Down Syndrome Awareness month

October is Down Syndrome Awareness month so I thought I should do my part and educate!!

WHAT IS DS? ...a genetic condition that causes delays in physical and intellectual development. It occurs in approximately one in every 800 live births. Individuals with Down syndrome have 47 chromosomes instead of the usual 46 with extra genetic material on the 21st chromosome... Trisomy 21. 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. Remember that only one chromosome is affected (meaning there is more of it), so all other 46 chromosomes are "normal", that is why Jack has so many of mine and Jeramy's features and has his own unique personality!

DIAGNOSIS...Down syndrome is usually identified at birth or shortly thereafter. 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 chromosome study (karyotype). A karyotype provides a visual display of the chromosomes grouped by their size, number and shape. Jack's karyotype is 47xy-nondisjunction Trisomy 21 which comprises 95% of the diagnoses. Nondisjunction simply means that the 21st chromosome did not divide evenly.

LEARNING & DEVELOPMENT...It is important to remember that while children and adults with Down syndrome experience developmental delays, they also have many talents and gifts and should be given the opportunity and encouragement to develop them.

People with Down syndrome are not severely impaired. Most children with Down syndrome have mild to moderate impairments but it is important to note that they are more like other children than they are different. Early Intervention services should be provided shortly after birth. These services should include physical, speech and developmental therapies. Most children attend their neighborhood schools in regular classes with special attention given where needed.

Jack was enrolled in Early Intervention Services right after birth and started receiving therapy by 3 months of age. He is currently receiving weekly physical therapy and speech therapy with occupational therapy evaluations done monthly, so once there is a delay in that area he can also add OT to the list. Small things like rolling over and sitting up have been HUGE in our house and when he begins to walk (which is usually around 2-3 years of age) I'm sure it will be like he won a gold medal!!

HEALTH ISSUES...Many children with Down syndrome have health complications beyond the usual childhood illnesses. Approximately 50% of the children have congenital heart defects. It is very important that an echocardiogram be performed on all newborns with Down syndrome in order to identify any serious cardiac problems that might be present. Some of the heart conditions require surgery while others only require careful monitoring. Children with Down syndrome have a higher incidence of infection, respiratory, vision and hearing problems as well as thyroid and other medical conditions. However, with appropriate medical care most children and adults with Down syndrome can lead healthy lives. The average life expectancy of individuals with Down syndrome is 55 years, with many living into their sixties and seventies.

Many of you know how healthy Jack has been, so we are truly blessed. Jack is currently following up with ENT every 3 months due to his small ear canals and to check for any wax build up. Jack's hearing is great. He coos, laughs, babbles, hates loud noises and says "da da" ALL the time! We also have his first visit with ophthalmology in November, so we will see how that goes.

AND...People with Down syndrome are not always happy (they have a full range of feelings, like everyone else).

Please don't ever tell a new DS mom "I'm so sorry"...that cuts like a knife.

And if you use the "R" word for slang, which society is REALLY bad about, please stop. You have no idea how bad it hurts to hear you say it. Do it for Jack.


allison said...

Hey girl, thanks for sending your link. I have you on my blog but I forget to get on there very much. It was so good to catch up on your family--by your blog. I would love to get together with you sometime. Plese call next time you come to town and maybe yall can come by.
love allison