Down syndrome is named after the doctor who first discovered the similarities among a group of children. Doctor John Langdon Down was observing a group of mentally retarded children when he noticed they had something in common. He began to journal the physical features of these children and in 1866 his findings were published in a medical journal. Down syndrome is also referred to as Downs. Down syndrome was previously called mongolism because Dr. Down tried to find a connection between intelligence and race. The facial features in the people he studied were like that of the Asian people known as Mongols. People with Downs were classified by Dr. Down as “idiots” and “mongoloid idiot”. The term mongoloid is still used today, but carries a derogatory connotation and should not be used. When a child was born with Downs, its’ life expectancy was not long. The enlarged organs and defective heart valve could not be seen or repaired when this diagnosis was discovered. Then a child might live until the age of two and now they live well into adulthood. Very often the internal complications match the external features. The more severe a person looks the more severe the problems are on the inside. When a child has mild physical features, it is usually higher functioning and has fewer medical conditions.
According to my child’s geneticist, she will function 50% behind her chronological age. In other words, when she was one year old she should start to rollover like a typical six month old baby. When she was three years old, she should be doing things typical of an eighteenth month old toddler. When she turns ten years old, she should be functioning like a typical kindergarten student. Since she is able to do many things before her Downs age, she is considered high functioning. She was born premature and had an intestinal surgery at the age of two weeks.
At six months old, I held her in my arms and cried. I looked down at her little body, which could still wear preemie clothes, and asked my best friend, “Is she ever going to grow?” There were so many myths that scared me. Reality is my child is my child and deserves the same opportunities as any other child. She may do things a little different, but she can do it in her own way and in her own time. My friend is offended when we are approached by someone who notices her Downs. I am offended by someone who notices her Downs and doesn’t approach. I get very defensive when someone doesn’t want her around. I can see it in their face. I can feel it in their body language. I can hear it in their voice. And I get furious. “Downs is not contagious!” I spout. There are things about her that I haven’t read before. This is why I am including some of our experience in my report. She is sensitive to the point of crying if another child cries. When I drop something, she tells me she is sorry. She will be ten years old this Christmas Eve and she is still not potty trained. We still get for 2 o’clock feedings. She must have Pediasure warmed to a certain temperature before she will drink it. It must also be thickened just right to prevent her strangling on it. Her wrist will not flex like the average person, so she circumvents opening a door by placing one hand over the other on the door knob and thrusting her body weight to turn it. She thinks her guts are busting open when she feels the need to poop and she says her brain hurts when she has a fever or headache. Her memory is extraordinary, but she can’t say her alphabet. She drags her foot when she gets tired, but she can climb like crazy. Her geneticist says she is very well proportioned and her muscle tone is not text book.
Last appointment he joked that he was sending all his patients to our farm for therapy. She learned to brush her hair, first by brushing an angora rabbit, then her miniature horse, and finally her own. I have to alter pants and long sleeve shirts because with most Downs people their extremities are shorter than the average person. I have found capris fit like pants on her. This is great because I can buy them on clearance in the fall, she wears them through the winter, and by spring if she hasn’t gained weight they fit her like capris are supposed to. My dad calls her “good medicine” because he can be having a rough day and come over to see her and she brightens his world. She is a “runner” and escapes every chance she gets. She does not know her phone number and address. The things she would be able to tell someone, might not be understandable to them. Downs people have characteristics of enlarged tongue, drooped mouth, and flattened face. This makes speech difficult. We taught her to sign at an early age and she does take speech therapy. When she doesn’t want to do speech therapy, she refuses to talk, covers her mouth with her hands, or whispers. This behavior has nothing to do with Downs and everything to do with circumventing a situation. Her speech pathologist has discovered that she will cooperate more if they use animals during therapy. People have underestimated her because of her appearance and delayed speech. In preschool I told them she was a runner and they underestimated her to the point it almost cost her life. One day I went to pick her up and arrived a little early. I sat on the sidewalk waiting for time pass. She came out the door and down the sidewalk to me. I thought the teachers had seen me and let her go. I walked her back in to sign her out and realized by their faces they had no idea she was gone. She had made it out two doors and passed three adults along the way. God has done a super job watching over her and placing me where I needed to be at the right time. Her current school misplaced her as well and she has a full-time aid. She waits for the opportunity and makes her move. Distract and attack is what I call it. Diversionary tactics is what my dad calls it. She tires easily and any change in her routine can cause diarrhea, constipation, and/or vomiting. She may bite her lip, her nails, her hair, or even her shirt when she is nervous. Strangers and strange environments may cause her to drool and shut down. She loves being outdoors, playing in water, and being around animals. She likes to play with Barbie dolls and dinosaurs. She likes to look at books and she likes to be read to. Her favorite Popsicle is grape, but she calls it black. I have to agree with her due to its’ dark shade.
According to A.D.A.M Medical Encyclopedia 2011, Down syndrome is the most common single cause of human birth defects. The symptoms can range from mild to severe. Downs syndrome is a genetic condition in which a baby is born with 47 chromosomes instead of the usual 46. Trisomy 21, which is what my daughter has, is a form of Down syndrome in which an extra copy of chromosome 21 has occurred. This may result in problems in the way the body and brain develop. Common physical signs include: decreased muscle tone at birth, excess skin at the nape of the neck, flattened nose, separated joints between the bones of the skull, single crease in the palm of the hand, small ears, small mouth, upward slanting eyes, wide short hands with short fingers, white spots on the colored part of the eye. These spots are called Brushfield spots. Most children with Down syndrome do not reach their average adult height. They may also have delayed physical, mental and social development. Common problems may include impulsive behavior, poor judgment, short attention span, and slow learning. Some feel frustration and anger when they become aware of their limitations. Some medical conditions include birth defects involving the heart, dementia, eye problems, early and massive vomiting, gastrointestinal blockage, hearing problems, ear infections, hip problems including risk of dislocation, long-term constipation, sleep apnea, narrowed airway, teeth that appear later than normal, and underactive thyroid. A blood test can be done to check for the extra chromosome and confirm the diagnosis. Another common health problem in people with Downs is obesity. Before beginning sports the neck and hips should be examined. It is important to encourage independence. Physical therapy may improve movement and occupational therapy may help with performing tasks.
The media is helping inform the public that Downs is “more like you than different.” Currently the television show Glee has an actress, Lauren Potter, who has Downs and her public platform is to stop the “R” word. She doesn’t want to be called retarded. Unfortunately, in order for a student with Downs to receive special education services they must be labeled “mentally retarded” because Downs is not a recognized category. I knew my child had Downs, but no one prepared me for the IEP conference when I was to be informed for the first time ever that my child would be labeled mentally retarded in order to receive her therapies. I burst into tears and anger flooded my emotions. It seems I am apprehensive with each meeting and appointment that someone is going to step on my over sensitive toes.
I see my daughter being able to do anything she wants in her life goals. Currently she is focused on marrying handsome, which is any guy in a suit. She wants to be a doctor. I see a zoologist. I hope by the time she gets her driver’s license she will be making her own Pediasure. She hasn’t participated in Special Olympics yet, but she has finally reached the age requirement. Some children never made it to the required age to participate. With future research this can change. Currently the Arkansas Down Syndrome Association is asking voters to contact their representative to vote on a proposal that will allow equal funding to go toward Downs research as other research for disabilities are entitled. The next time you meet a person with Downs, please remember “we are more alike than different.”