This post is part of a monthly blog feature sponsored by S-O-S Research. Lisa Quinones-Fontanez from Autism Wonderland suggested this month's topic of Family, Life-Fun, Loving, and Special.  In honor of National Down Syndrome Awareness Month I'm sharing a little about my delightful daughter, who has a dual diagnosis of Down Syndrome and Autism Spectrum Disorder.


I knew the diagnosis as soon as the early morning call from the Genetic Counselor woke us up. I considered not answering the phone.  She had left a voicemail the day before, but I didn't get it in time time to call her back.  Now she was calling again!  Something about an 8:01 a.m. call from someone who started her workday at 8:00 felt urgent and ominous.  She asked that we immediately come to the office to discuss the amnio results.  No discussion needed.  We knew our first baby had Down Syndrome.

There were tears and prayers.  Stupid things were said by people trying to be helpful and by people who were (let's be honest here) just flat out stupid when it came to our emotional struggle.  We thought we needed to  reshape our image of our daughter and our vision of family life.  In retrospect, the raw emotions and struggle surrounding our daughter were unnecessary.  The major source of our emotional upheaval was not our daughter.  It was ignorance of her diagnosis.


As a NICU nurse, my biggest fear was for my daughter's health.  I had seen some really sick babies. In my ignorance I thought that all babies with T21 couldn't eat and needed open heart surgery.  The delightful truth is that while certain medical conditions are associated with Trisomy 21, they are the same conditions that can affect babies and children throughout the world without warning.  We have warning, thanks to Down Syndrome research.  Clara-Bear will have the blessing of targeted preventative care and health maintenance throughout her life.

My husband had a fear that our daughter would look like Down Syndrome instead of like us.  In his ignorance, he saw facial features and body types instead of people. The delightful truth is that our daughter is just as beautiful as we envisioned - except she inherited my fine, super straight hair instead of her Aunt Meredith's beautiful thick curls.  Mommy bonus - I always wanted a daughter with blue eyes and strawberry blonde hair, and her hair color was the first thing I saw when she was born.  She also has my mother-in-law's laugh.  More ignorance - we didn't know a laugh could be inherited!

15 month old Clara-Bear

Down Syndrome is a syndrome.  Individuals have a variety of the features and traits associated with T21.  Some have more of the documented features, some have less, all look like their biological families.  There is no such thing as a cookie cutter for people.  Good looks and the not-so-good are inherited from parents and ancestors. Clara-Bear will curse me for that Marcia Brady hair some day!

Uncle Kevin, Aunt Driana, and Mommy.  This hair was cool back in 1973!

The grands on both sides had a fear that Clara-Bear would be "low functioning." They hopefully looked for the tiniest sign that she was "high functioning." The delightful truth is DS research has found that independent functioning as an adult is not related to delays earlier in life or to appearance.

Clara-Bear can be challenged by things that come easily to her Typically Developing younger brother.  But there are things that come easier to her.  Don't tell my son, but she is better than he is at figuring out how to make things work within her abilities.  Probably because she doesn't quit at the first sign of a challenge like he does. (Insert Mommy guilt for comparing children here.)

The new generation with T21 is blessed beyond words by the results of  developmental, medical, and educational research.  Assistive Technology is already removing barriers and creating opportunities that were never an option for past generations. As family and friends we have the thrill of witnessing our loved ones rising above preconceived notions of  potential.  We can delight in the knowledge that, with the proper support, our children have more life choices than parents of past generations with Down Syndrome could have ever imagined.   

This is not your grandmother's Down Syndrome. Times have changed. Society no longer defines ability for individuals with Trisomy 21. Our children are setting new limits and breaking through the genetic ceiling that used to trap individuals with Down Syndrome and their families.  I am so proud of my delightful, beautiful, and clever daughter.  I celebrate that she has been born at such an exciting time for individuals with Down Syndrome.


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Twitter hashtags #downsyndrome #buddywalk