31 For 21: Day 19...Questions & Answers

FAQ's


What is Down syndrome?
Down syndrome is the most common genetic condition. One in every 733 babies is born with Down syndrome. The most common form of Down syndrome is called Trisomy 21, because it involves an extra copy of the 21st chromosome.

What impact does Down syndrome have on society?
Individuals with Down syndrome are becoming increasingly integrated into society and community organizations, such as school, health care systems, work forces, and social and recreational activities. Individuals with Down syndrome possess varying degrees of intellectual disabilities, from very mild to severe. Most people with Down syndrome have IQs in the mild to moderate range of intellectual disability.

Due to advances in medical technology, individuals with Down syndrome are living longer than ever before. In 1910, children with Down syndrome were expected to survive to age nine. With the discovery of antibiotics, the average survival age increased to 19 or 20. Now, with recent advancements in clinical treatment, most particularly corrective heart surgeries, as many as 80% of adults with Down syndrome reach age 60, and many live even longer.

In the United States, approximately 400,000 families have a child with Down syndrome, and about 5,000 babies with Down syndrome are born each year. More and more Americans will interact with individuals with this genetic condition, increasing the need for widespread public education and acceptance.

What is the cause of Down syndrome?
The additional copy of the 21st chromosome which causes Down syndrome can originate from either the father or the mother. Approximately 5% of the cases have been traced to the father.

Who has the highest risk of having a child with Down syndrome?
Down syndrome can occur in people of all races and economic levels. Older women have an increased chance of having a child with Down syndrome. A 35-year-old woman has about a one in 350 chance of conceiving a child with Down syndrome, and this chance increases gradually to one in 100 by age 40. At age 45 the incidence becomes approximately one in 30.

Since many couples are postponing parenting until later in life, the incidence of Down syndrome conceptions is expected to increase. Therefore, genetic counseling for parents is becoming increasingly important. Still, many physicians are not fully informed about advising their patients about the incidences of Down syndrome, advancements in diagnosis, and the protocols for care and treatment of babies born with Down syndrome.

Why are medical researchers today so keenly interested in Down syndrome?
Down syndrome is a developmental condition. As researchers learn more about the molecular genetics and other aspects of Down syndrome, they also obtain valuable information about human development and can advance the study of many biological processes.

In addition, individuals with Down syndrome have a higher incidence of certain medical conditions, and the study of Down syndrome may yield important breakthroughs in those areas. Research in Down syndrome provides a way for looking at many important problems:

• Heart disease: Up to 50% of individuals with Down syndrome are born with congenital heart conditions. The majority of heart conditions in children with Down syndrome can now be surgically corrected with resulting long-term health improvements. However, scientists continue to search for the cause of these heart conditions and look for means of prevention.
• Alzheimer's disease: Estimates vary, but it is reasonable to conclude that 25% or more of individuals with Down syndrome over the age of 35 will develop the clinical signs and symptoms of Alzheimer's-type dementia.
• Leukemia: Approximately one in every 100 individuals with Down syndrome will develop leukemia; or, to put it another way, 99% of people with Down syndrome will not develop leukemia. The majority of cases are categorized as acute megakaryoblastic leukemia, which tends to occur in the first three years of life, and for which there is a high cure rate. A transient form of leukemia is also seen in newborns with Down syndrome, disappearing spontaneously during the first two to three months of life.

Re-printed from www.ndss.org



31 For 21: Day 8...Welcome to Holland

Fridays are long days for me right now.  My mother and I are busy preparing for our weekend farmers' markets.  So instead of a long post today, I am sharing a poem written by Emily Perl Kingsley.  For those of you who don't recognize her name, Emily Perl Kingsley is a writer for Sesame Street.  She also has a son who has Down syndrome.  His name is Jason Kingsley and she wrote this poem after learning that Jason has Down syndrome.  Tomorrow I will reflect on this poem and my thoughts about it and about the first moment in the hospital after Andrew was born when the doctors suspected that he had Down syndrome.  Until then...Welcome to Holland!

Welcome To Holland

by

Emily Perl Kingsley

I am often asked to describe the experience of raising a child with a disability - to try to help people who have not shared that unique experience to understand it, to imagine how it would feel. It's like this......

When you're going to have a baby, it's like planning a fabulous vacation trip - to Italy. You buy a bunch of guide books and make your wonderful plans. The Coliseum. The Michelangelo David. The gondolas in Venice. You may learn some handy phrases in Italian. It's all very exciting.

After months of eager anticipation, the day finally arrives. You pack your bags and off you go. Several hours later, the plane lands. The stewardess comes in and says, "Welcome to Holland."

"Holland?!?" you say. "What do you mean Holland?? I signed up for Italy! I'm supposed to be in Italy. All my life I've dreamed of going to Italy."

But there's been a change in the flight plan. They've landed in Holland and there you must stay.

The important thing is that they haven't taken you to a horrible, disgusting, filthy place, full of pestilence, famine and disease. It's just a different place.

So you must go out and buy new guide books. And you must learn a whole new language. And you will meet a whole new group of people you would never have met.

It’s just a different place. It's slower-paced than Italy, less flashy than Italy. But after you've been there for a while and you catch your breath, you look around.... and you begin to notice that Holland has windmills....and Holland has tulips. Holland even has Rembrandts.

But everyone you know is busy coming and going from Italy... and they're all bragging about what a wonderful time they had there. And for the rest of your life, you will say "Yes, that's where I was supposed to go. That's what I had planned."

And the pain of that will never, ever, ever, ever go away... because the loss of that dream is a very very significant loss.

But... if you spend your life mourning the fact that you didn't get to Italy, you may never be free to enjoy the very special, the very lovely things ... about Holland.

In Honor of Andrew on World Down Syndrome Day

My life would be very different if Andrew wasn't born with Down Syndrome. That day, December 12, 2006, changed my life forever. I have made connections with people whom I never would have met if it wasn't for the extra chromosome that Andrew was blessed to have. Three copies of his 21st chromosome...funny how something as small as that could change your life. My goals, now that he and his sister are a bit older and more independent, are to increase awareness and garner more acceptance for people with Down syndrome. It is not an illness and it is not contagious. People with Down syndrome deserve the same acceptance and respect that everyone else deserves. Leave me a comment if your life has been touched with someone with Down syndrome.

So, here is my 21 for 21...21 things about Andrew that makes him who he is...

1. Andrew has Down syndrome, which was diagnosed after he was born. It occurs in approximately one in every 800 live births.

2. If he knows you well, Andrew will always have a big smile and a hug for you.

3. If he doesn't know you well, Andrew will put his head down when we sees you, but will peek out to look at you to get to know you better.

4. Andrew loves to play outside. Whether it's running up and down the driveway or kicking a ball, he'd rather be out in the fresh air than inside.

5. Andrew's favorite breakfast is french toast made with cinnamon bread.

6. Andrew's favorite television shows are iCarly and Spongebob Squarepants. He could watch them all night if I let him.

7. Andrew loves going to school. He currently attends the special education preschool at Burr Hill Elementary School in Higganum, Connecticut, which is part of Regional School District #17.

8. Andrew's favorite activity on the playground is climbing up the slide and then sliding down.

9. Andrew can run, jump and play, just like other kid's his age. It has just taken him longer to learn how to do some of these things.

10. Andrew loves for me to read "How Does a Dinosaur Say Good-Night?" to him every night before bed.

11. Andrew loves playing with the water in the bathtub during his bath, but he hates when I pour water over his head when I wash his hair.

12. Andrew loves his John Deere tractor. He rides it in a circle in the driveway.

13. Delayed speech is a common issue in children with Down syndrome, due to low oral muscle tone. Andrew has learned some words that we can understand including mama, dada, help, pineapple, hi, bye, yeah, i do. He learns more words everyday, including some of the colors. Most of the time, only his family can understand what he is saying, but with more practice and development of his oral muscles, everyone should be able to understand him.

14. Andrew has also learned some sign language to help him communicate with others. He knows the signs for many common words that he needs to use in school, including more, play, thank you, yes and no.

15. Andrew usually gets along well with his younger sister, Hailey. They do play nicely with each other most of the time, but they do push each other occasionally. Sibling rivalry is still the same as with any siblings.

16. Andrew hates getting hair cut, the same as many other 3 year olds.

17. Andrew has taught all of us to enjoy the simple things in life...the fascination of a ladybug crawling across the table, the delight in watching water flow down the driveway. It's the memories that we are making together, the moments that we enjoy each other that are more important than getting the chores done.

18. During Andrew's first three years when he was in the Birth to Three early intervention program, he tried so hard to learn the basic skills that typical children seem to learn so easily. Crawling, walking, and climbing stairs were always so hard for him and the tears that we cried during therapy sessions were heart-wrenching. But, when it was over, he would look up at us and smile, and we would smother him with kisses--his reward for trying so hard. We still do the same today when he works and learning a new skill that is difficult for him.

19. Andrew loves his "Rizzie"...my mother.. He likes to work with her in the kitchen and she has been teaching him how to roll out dough to make pot pies and cardamon bread. And, he loves playing in her big bin of flour!

20. Andrew also loves his "Grammy"...my mother-in-law. She buys him most of his clothes and books. He loves for her to read to him and she enjoys all of his creations in his play kitchen, including his specialty...coffee!

21. Andrew is more alike his typical peers than different!

Some of Andrew's pictures appear in this video that my FaceBook friend, Lisa Smith, put together to celebrate the specialness of our children:
http://www.onetruemedia.com/shared?p=a8d2c4b8b1b4fc329a0ecc&skin_id=0

Also, for my first Wordless Wednesday post on Wednesday, March 24th, I will post pictures of Andrew doing "typical" preschool activities! Looking forward to talking with all of you soon!