Learning a little about Down syndrome

OK, let’s be honest (you can always count on me for that.)  What do you really know about Down syndrome?  I didn’t know much before Charlie was born.  I knew that it was genetic (somehow).  People with Down syndrome had a unique “look”.  However I never really knew anyone with Down syndrome or anything about it.  I obviously had a lot to learn.

I’m going to assume that since you are reading this, you have some connection to Charlie or interest in his story and would like to know a little bit more about what makes him so unique.  I also feel that as his mom I’m also an advocate, someone who can share information with others to help them learn more about Charlie and others like him.  Basically this blog is a form of advocacy.

Since there is plenty of information to share and I don’t want to overload you with a new record-long post, I think I may have to break this into a series of posts.  We’ll go ahead and call this Part One…

Starting with our science lesson (and I promise not to go into too much detail – heck, I barely understand it, and I’m not pretending to be a doctor, so this description is in the most simplest of terms – they way I understand it).

Down syndrome is the most common chromosomal anomaly.  It occurs in approximately every one in 733 births in the United States – about 5,500 – 6,000 babies a year.  Common you ask, if it is so common why aren’t there more babies with Down syndrome born each year?  Well, approximately 92 percent of women who receive a prenatal diagnosis of Down syndrome terminate.   So using my trusty math skills (and they are weak, so please correct me if I’m way off here…) that would mean that approximately 65,000 + more babies with Down syndrome could potentially be born a year…but I digress… However, that is certainly a topic I will cover, but will save it for another time…let’s get back to our science lesson…

First a few facts; boys and girls are equally likely to have Down syndrome.  It is one of the most common birth defects.  Down syndrome occurs in all races, ethnic groups, social classes and nationalities.  It could happen to anyone.  It happened to us.

From the very first cell division (when the cells grow, dividing and duplicating repeatedly) there is some extra genetic material located in the twenty-first chromosome.  This is called trisomy 21, or Down syndrome.  Instead of having 46 chromosomes, Charlie has 47.  All of his other chromosomes are “normal” and his twenty-first chromosomes aren’t defective, there is just “extra” information.

Charlie is much more like us than he is different.  All of his other chromosomes contain genetic information that makes him part of our family.  His blue eyes (like mom, dad and big brother), his strawberry blonde hair (like his mom when she was little) and his big feet (again, from both sides.)  Having that “extra” information in his twenty-first chromosomes does set him apart in some ways – his smaller and lower placed ears, the gap between his big and little toes, and lower muscle tone to name a few.

Another piece of information I learned in my research; there are three types of Down syndrome.  Charlie has nondisjunction trisomy 21.  When he was conceived – when his first cell divided – his cell didn’t divide evenly, and the twenty-first chromosome copied this error for every cell in his body.  I don’t claim to get it, but I trust that the $2,000 karyotype blood test that they ran after he was born was accurate.

We would like to have more kids in the future and have learned that Charlie’s diagnosis won’t increase our odds of having another baby with Down syndrome.  (I do want to note that we would welcome any baby, I’m just stating what my research has uncovered).  We will go back into the gene pool of “chance” just as any other couple.  However, while some older research puts our odds at 1/100 for having another baby with Down syndrome, a majority of current research states that our only odds that will increase will be as a result of my age.  Yes, I will be a few years older, and as the mother ages, her risk if giving birth to a baby with Down syndrome increases.  For instance, when I had Henry my odds were 1/942.  When I had Charlie my odds were 1/755.  And no, we don’t play the lottery.

The second type is called translocation trisomy 21.  In this type, the twenty-first chromosome breaks off and attaches to another chromosome.  This one is actually genetic and either the mom or dad can be a carrier, which increases couples’ chances of having another baby with Down syndrome.

The third type is called mosaicism.  This form is very rare, and often isn’t caught until the child is older, because the “effects” aren’t as obvious or severe.  Mosaicism occurs later in the cell division process, so not all of the cells contain trisomy 21.

I fully believe that Charlie is a baby first and foremost.  His diagnosis falls way down the line on his list of attributes.  It is interesting to me how quick we are to label things.  Because really, when you break things down in a very scientific manner (not my cliff’s notes version) people with Down syndrome are much more like us “normal” people than they are different.  Sure there are some obvious physical characteristics, and some common health issues, but really they are just people with a few differences or “extras”.

I also thought it was worth noting why Down syndrome is called a “syndrome”.  This is because each individual that has Down syndrome is unique, thus it is a syndrome.  For example, approximately 50% of babies with Down syndrome are born with a major heart defect.  Charlie did not.  Thus the “syndrome” factor – each individual with Down syndrome has their own characteristics and health related issues that make them unique, just like each one of us.

So, before your eyes really start to glaze over, I’m going wrap up this science lesson.  Thanks for sticking with me on this one…


8 thoughts on “Learning a little about Down syndrome

  1. Wow Libby – what a beautiful, honest, and gift you are sharing. As a friend and neighbor i worried about you and wondered how you were feeling but didn’t really know how to bring it up ….. but i do believe that things happen for a REASON maybe not a reason we understand but it’s there. You have so eloquently shared the story of charlie and i look forward to learning more. Love Patty

  2. Libby,
    THANK YOU THANK YOU THANK YOU. It has been such a blessing to me to be able to read your words your thoughts your truths. You are this mom that I wish that Icould be to my boys. you inspire me!

  3. Hi that was great to read because im 21 have a hubby and a little girl 2 1/2 and a boy bot thats 15 months old and im having my third and i was told the i have 1 in 28 chance of having a down sydrome boy i have the test thrusday and im so scard because i have 2 very small kids and i dont know what to do!!!!!!

  4. Pingback: Charlie’s Going National « Blessings and Glory

  5. Thank you for your pictures and story. I am just starting to write a blog about my experiences as a grandmother to be of a baby girl with Down syndrome. I am also just starting to research other blogs to see how other families have dealt with it.

  6. I am the grandmother of a 4 year-old beautiful little girl who happens to have Down Syndrome.
    She is the light of my life. Raising her has been no different than raising her brothers, actually she may be a little easier. Relax and enjoy, you will be rewarded with the best hugs and kisses ever.

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