Hi, honey. I'm taking Sue to the pediatrician to see if we can get some answers to our questions about her slow start. I'll let you know what I find out.
Dr. Pepper, Sue seems to be developing much slower than all of the other children. She can't talk yet and she's about to turn 3. She has a difficult time learning as well. It's like she can't focus or understand. Sue looks different than the other children too, but she's just unique. She has trouble making friends, but she's probably just got her father's awkwardness.
I will run a blood test to look at Sue's DNA and get you some answers.
The test results came back and Sue has a genetic disorder called Down Syndrome. This is the cause of her delayed development, learning disability, impaired social interaction, and different appearance. She is a special and unique girl, but the over-expression of certain genes is causing these differences.
How did this happen? Was it something I did wrong? I knew I shouldn't have had that cup of coffee when I was pregnant.
DNA 23 pairs
It was nothing you did wrong, Mrs. Butterworth. Every person has their own DNA which is packaged into storage bins called chromosomes. We each have 46 chromosomes, 23 from our mom and 23 from our dad. Sue got an extra copy of chromosome 21 from one of her parents so she has 47 total chromosomes instead of 46. This is why Down Syndrome is also called trisomy 21, meaning 3 copies of chromosome 21. Does this make sense?
I understand. The more the merrier, right? But what do I do now?
Sue may benefit from certain targeted therapies since she develops and learns differently from other children. Otherwise, she is healthy as can be. Bring Sue in for check-ups to make sure she stays this way! Here is a brochure with information about Down Syndrome and connections to support groups.
Thank you, Dr. Pepper. You have been a huge help! I learned so much about DNA. I always knew Sue was unique.
You're a special girl, Sue. You did so good today let's go get some ice cream!