Remembering Adam and Amy: October Down and Rett Syndrome Awareness Month

When my oldest son went to kindergarten I held my breath, he was not great at social skills and did not make friends well.  I was thrilled when he started coming home from school with stories of Adam, the coolest friend ever.  I couldn’t wait until open house and meeting Adam’s parents.  At open house I ask Aaron’s teacher about Adam and she asked me to sit down.  Oh great I though, Adam does not know Aaron is alive, here we go again, but that was not the case.

 “I hope I have not over stepped my bounds here as a teacher, but Adam is my son, and he is not in this class, Adam is in special ed, he has Down Syndrome. I didn’t mean for it to happen, but he and Aaron bonded so quickly, that I let Aaron walk Adam to his class at 8:30 and then go back and get him at 2:30, special ed hours are shorter than regular, so Adam spends that hour in my class. I am sorry; I should have asked you for permission.” She spoke low and softly with a strained look of apology on her face. 

Are you kidding me, Aaron has a friend, Aaron has a real friend that he is excited to see each day, I am so happy for our boys, I hope Adam likes Aaron as much as Aaron likes him!” I was thrilled, I ask her if Adam could come play sometime or could we set up a play date in the park. Mrs. Smiths face filled with joy, “You bet we can!” she said as she squeezed my hand, “Thank you for understanding; I worry about society accepting Adam and treating him as well, a normal boy. Aaron does that, he just sees a friend, someone to play with, it gives me hope.

I got to know Mrs. Smith rather well that year and learned how she felt so much shock when Adam was born.  We spoke about what happens where you are part of a circle of expectant Mom’s and then your child is born disabled. How you slowly loose friends and find yourself in uncharted territory.  Little did I know she was helping me understand what the road of having a disabled child is like, a road I too would soon be walking.

When the school year ended sadly the Smiths moved away and we lost contact, but not before I learned more about Down Syndrome than I ever had. Some of the facts are:

  • This is a genetic condition where the individual has 47 chromosomes rather than 46.
  • Downs occurs in one in every 691 live births. While it is fact that parental age at conception does play a roll in DS for older Mom’s 80% of all children are born to Mothers under age 35.
  • Physical characteristics that are seen in babies with Down Syndrome include a single crease across the palm of the hand, a slightly flattened facial profile, with an upward slant to the eyes, and low muscle tone.
  • Children with Down’s benefit from therapies, such as speech, physical and occupational.  Intelligence issues have always been known, but today we know with early intervention many children go on to attend class in normal classroom setting, some even go on to college.  More and more we are seeing adults with Down’s integrate into everyday life and the work place.  While nobody can predict a child’s outcome for adulthood in infancy, these children today more than ever are breaking barriers and achieving goals as they main stream into society.

Where did Adam end up?  While I am not sure, I did see him as a young adult at a wedding a few years ago.  He was a real heart throb in his tux, and humored me with a dance at the reception.  At that time he had completed school in special ed classes, and was in a job training program. I am sure his future remained bright.  For a day to day look into the life of a normal everyday all American family that just happens to have a daughter with Down’s read the following blog. www.kellehampton.com

Amy taught me the life lesson in being born normal does not mean you really are. While Amy came into this world a beautiful baby girl with all the hope and promise of normalcy, what her parents did not know was that lurking in her genetic code was a disability known as Rett Syndrome.  I met Amy and her Mother just after my son John had lost all his physical skills and regressed.  Amy’s Mom was frank with me about accepting what you cannot change and changing what you can.  From her I learned all about Rett’s and like others, I want to see a cure and prevention for this devastating life changing disorder. 

This disorder strikes girls, and is an X chromosome disorder. A mutation MECP2 can be found in a blood test. Because the MECP2 mutation can be found in other disorders, this mutation alone is not enough to diagnose a girl with Rett syndrome. Physical issues need to be studied as well. They are:

  • Normal Development for the first six to eighteen months of life.
  • Loss of purposeful use of hands, replaced with hand wringing or washing movement, rubbing tapping or mouthing of hands.
  • Loss of speech or apraxia
  • Chewing or swallowing issues
  • Seizures
  • Sleep disorders
  • Teeth grinding
  • Gastrointestinal issues, reflux or constipation
  • Irregular heart beat
  • Small cold hands and feet
  • Small head or microcephaly
  • Tremors

In recent years girls with Rett syndrome have been frequently misdiagnosed as autistic, and placed into therapy programs for autism, such as applied behavioral therapy. Rett is not a form of autism it is a chromosomal issue. Treating a child as if they have autism will not help, and will only delay getting a child the proper services. In years past before the gene was identified, Rett was commonly confused with Cerebral Palsy. Now with a gene test and careful observation a correct diagnoses of Rett syndrome can be made.

What is the prognosis for these girls? Some live long lives into adult years. Much depends on the development they achieved before the loss set in. Most will end up in a wheelchair and possibly require a feeding tube. Adaptive equipment will need to be acquired for the child and home, schools should provide special education for these girls.

These girls have bright eyes, and as far as anyone can test, normal cognitive understanding. They laugh, smile and light up with joy just as any child will in the presence of those they love or an activity they enjoy. Lack of speech does not mean lack of understanding or desire.

Down Syndrome & Rett Syndrome AwarenessTo learn more about Rett syndrome I suggest the following website. www.rettsyndrome.org.  Please consider making a donation to the society to end this disorder and make Rett syndrome something you only read about in past medical journals.

This month many organizations are having awareness. Whether you were pink, purple, black, yellow and blue or whatever color ribbon I have missed, remember that being aware is only half the battle. Keep an open mind all year long, and be aware of disabilities, illnesses, and issues that effect families in a very personal way. Speak kind words of encouragement, and remember everyone walks a unique journey, sometimes they cross your path to help you. Sometimes you cross their path to help them.

Cheryl.

Cheryl Bailey
Cheryl Bailey is a freelance/ghost writer who lives North Mississippi. She is the mom of two grown sons the youngest was disabled after a vaccine injury left him without any physical skills or speech. Cheryl now works to advocate for all persons of disability, and frequently writes about life with John, subject of A View in the Mirror. Her other passions include sewing, gardening, and spending time her dog Cindy and any stray cats that choose to call her back porch home. When not working as an advocate for persons with disabilities, she can be found working for Soldiers Angels in support of our troops. You may contact her via Facebook or Twitter.
Cheryl Bailey
Cheryl Bailey

Leave a Reply

  1. I have a 12 yr old son who has autism, and he is in a special ed classroom at his middle school with other kids with disabilities some with Down’s syndrome. They are all so sweet and get along together so great. We also play Buddy Baseball and Tops soccer with other kids with disabilities and it’s always so nice to meet the other parents. Even though our kids have different diagnosis, we all understand how life can be hard but fulfilling. Thanks for a great article!

  2. I have an uncle with downs and this is a wonderful article. God bless you for writing about such a personal topic and bringing awareness to this subject!