Parham.org

by Amy Parham — of Brighthouse for Children

It was a beautiful day in May 2004, when my husband and I arrived at the hospital for the birth of our second child. We found out the sex this time and knew we were having a girl, but hadn’t a clue what her name should be. With several baby-name books in hand, we headed into the labor and delivery room at the hospital and about three hours later, she was born. A natural, un-medicated birth that we thought could only indicate a strong, healthy baby. Almost immediately, my ob-gyn gently told us, “There are some signs of Down syndrome.”

At 20 weeks pregnant, I received a routine sonogram to measure fetal growth, to discover the sex of our child if we desired, and to check for any developmental problems. It was at this sonogram that a few measurements of our baby were slightly out of normal range. After reviewing the results with my ob, we had a second, more-detailed sonogram performed by a perinatologist on the same day. The results of this sonogram were completely normal.

Aware of the rate of false positives with some prenatal tests, and knowing we would avoid an amniocentesis at all cost, we declined nearly all routine prenatal testing. My pregnancy continued along normally, yet the information from the first sonogram was always in the back of our minds. Hopeful and scared at the same time, the possibility of Down syndrome was rarely discussed among us as our baby girl grew—all would be well.

We were thrilled with her birth and at the same time we were stunned by the news. “Look at that gorgeous frock of red hair” was quickly followed by “Down syndrome? It can’t be.” Yet when we looked at her, we both knew. We knew all along—the first sonogram was right. All of the unspoken thoughts and fears we had during my pregnancy were now staring up at us with big, blue eyes. Here we were, at the hospital, our beautiful baby girl nursing away, completely unaware of the attention she was about to receive from what seemed like hordes of professionals just waiting to get their hands on her. Exhausted and perplexed, we relented and off she went with her Daddy by her side to be examined. And thus, the new road on which we now drive started to be paved.

Down syndrome (DS), named after Dr. Langdon Down, an English physician who first documented its unique characteristics in 1866, occurs in approximately 1 in 800 births and is the most commonly occurring genetic abnormality. Down syndrome affects all races, ethnicities, genders and socio-economic groups equally. Approximately 6,000 babies with DS are born each year in the US; 350,000 people have Down syndrome in the United States today.

In Down syndrome, also known as Trisomy 21, there is an extra copy of chromosome 21, resulting in a total of 47 chromosomes in a person’s cells rather than the usual 46. There are three types of Down syndrome: Nondisjucntion Trisomy 21, Translocation Trisomy and Mosaicism. Nondisjunction Trisomy 21 is the most common form of Down syndrome. It occurs in approximately 95% of all cases of DS, and results from the failure of the chromosome 21 pair to disjoin from one another or divide properly in the egg or sperm cells.

The cause of Down syndrome is unknown. The only firm link is the age of the mother—the chance of having a child with DS increases with maternal age, though the majority of babies with DS are born to mothers under the age of 35. Some researchers describe the presence of “sticky genes,” which can originate from either the mother or father, as a factor, yet the actual cause of DS remains unknown and benefits from continued research.

My husband took the first drive down our new road as our daughter received a thorough physical examination during her first few moments of life. In between baths and cries, flashes from the camera and many gentle touches on her forehead from Dad, the neonatologist on-staff at the hospital was able to identify some telltale physical characteristics of Down syndrome.

Physical characteristics of Down syndrome can, but don’t always, include almond-shaped eyes; epicanthal creases, or folds, on the inside of the eyelids; a single palmar crease on one or both hands; low muscle tone or hypotonia; straight, thin hair; a larger than usual space between the first and second toes; a shortened nasal bridge; smaller than average head and ears; a pear-shaped abdomen. All individuals with Down syndrome display developmental delays, though the range and severity of delay vary widely among the DS population. Cognitive impairment also accompanies Down syndrome; most individuals with DS exhibit a mild to moderate range of metal retardation.

Our daughter was also examined for commonly occurring medical problems for individuals with Down syndrome. These can include congenital heart defects (about 45%); gastrointestinal and digestive concerns; respiratory problems; vision, thyroid and orthopedic problems; dental concerns; hearing loss (40-60%); and leukemia (individuals with DS are at a 15 to 20 times higher risk than the general population of developing the disease). If severe enough, some medical issues require surgery within the first hours, days or months of life. Some children have many medical issues at birth and throughout life; others have very few. All individuals with DS should receive more frequent than usual routine medical care that is attentive to these concerns.

I knew that something major was going on when my husband and new baby were gone for what seemed like an eternal three hours after her birth. Waiting alone in the post-partum room at the hospital, I thought positively and tried to distract myself with television and a less-than-satisfying banana muffin provided by a concerned nurse. Alone with my thoughts and the buzz from the fluorescent light in the room, I started bargaining with myself: “I bet it’s not Down syndrome. I’m sure she’s fine—the pregnancy was fine, her birth was amazing.” I didn’t want to admit it, but deep down I knew she had Down syndrome. I knew it before we even left home for the hospital. But actually hearing it, seeing it in the eyes of my own daughter was completely different. I was angry. “This can’t be happening. This wasn’t supposed to happen!” Each time I heard chatter in the hallway, I popped up in my bed, only to lie down again and continue crying. Finally, the door opened and in came my husband, my baby and the neonatologist. My husband’s eyes were red, too.

The doctor was certain that she had Down syndrome. We wouldn’t officially know until we received results from a blood test in about a week (a confirmed Down syndrome diagnosis can only be made after blood is drawn from a child and screened to produce what is known as a karyotype, or a picture of an individual’s genes). Until then, all doctors and nurses that attended to us would work on the assumption that our little girl had Down syndrome and would perform tests and examinations accordingly.

My husband nearly collapsed after the neonatologist left our room. It was my turn to be strong—he had just endured his own bargaining while our girl was having her bath and numerous tests. It was the first time in our lives where we truly didn’t know what to do or how to feel; we just held each other and cried.

During her hospital stay, our daughter made acquaintance with a gastroenterologist, a cardiologist, a geneticist, an urologist, and several others “-ists” to rule-out any potential health problems. She had a renal ultrasound, a chest x-ray, an echocardiogram on her heart, several hearing tests and blood tests. The cardiologist detected a small heart defect (which resolved itself by her first birthday) and she had jaundice due to poor eating. Our daughter failed her hearing tests and has mild hearing loss, which is improving over time as her small (or stenotic) ear canals open up as she grows.

In between the umpteen medical tests and examinations at the hospital, the idea of having a child with a disability started to sink in. I said to my husband “I don’t know if I can do this.” He lovingly said, “We have to.” After her birth, we experienced all stages of grief. We talked to a lot of people. We did a tremendous amount of research. Our emotions went back and forth in opposition, it seemed—when one of us was feeling low, the other was there to prop them up. We started to see a small glimpse into how our lives were forever changed—already.

Slowly, but very surely, a transformation began and we found that we were becoming very attached to our little girl. She cooed, she cried, she made those gaseous smiles so typical of a newborn—“Did you see that!? She smiled at me!” We cuddled, cried, sang, slept and talked to each other. She was our baby and had all the same needs as any other baby. It was then that we began to see what the future might hold. She was our little girl—and she still didn’t have a name.

A social worker also visited with us at the hospital and we were quickly connected with the local Down syndrome association and our Early Childhood Intervention, or ECI, provider. ECI, a government program, plays a critical role in the development of any child with challenges, whether it be a disability, prematurity, or a medical condition. It was in the hospital that we were hooked-up with the system and shortly thereafter started receiving home-based services (occupational, physical and speech therapies and nutrition counseling). In addition to home-based services, ECI provides resources for anything from adaptive home equipment to community outreach, from support groups to social gatherings of families in similar situations.

Because of specialized services and a dramatic shift in our culture, individuals with Down syndrome are more fully included in schools, the community and workforce today than ever before. Individuals with DS can and do achieve great things. Like Emma Corrigan who was reading before she entered kindergarten, or Ryan Teed who recently gave the commencement address at his high school. A college degree is now attainable by many, career pursuits are satisfied (take Patricia Moody who was the first individual with a disability to be hired as a teacher’s aide in her local school district), athletic dreams are captured (Karen Gaffney swam a relay of the English Channel), and meaningful, life-long personal relationships are fulfilled.

Despite these advances, however, individuals with Down syndrome still are often victim to ignorant comments, outdated stereotypes and public mockery. The efforts of thousands of parents and self-advocates are behind each of today’s advancements for individuals with Down syndrome. Tomorrow’s achievements by individuals with DS rely on ongoing advocacy, public education and a continued shift in our culture toward individuals with developmental disabilities and cognitive impairment. The potential of every child is unknown, including those with Down syndrome.

Fifteen months have now passed since the birth of our daughter. She is vivacious, stubborn, and sensitive to others. She pesters her big brother, gets into things, feeds her lunch to our dog, and whines when things aren’t going her way. She loves books and musical instruments and beads—oh, the beads! She greets us in the morning with some of the best hugs we’ve ever received and after our normally busy days, goes to bed with a brief fight and then, often, a smile.

We can’t help but notice and find awe in the aura she seems to have around her. People are drawn to her everywhere we go and she seems to touch them on the inside. Her wisdom seems to be beyond us and, sometimes, otherworldly. It’s almost like she has a deeper understanding of our world and enjoys and relishes in life’s vibrancy and joy on a level we’re only beginning to understand.

Becoming a parent has a transformative effect for everyone. And since the birth of our daughter, we’ve been transformed to the core. It’s really not an overstatement to say that we are different people today than we were before her birth. We’ve learned that certain things really don’t matter and that other things now matter more than ever. We think about the things we used to complain about and now see them as trivial. Our priorities are much more clear and we put the needs of our family first and foremost on a daily basis.

Our lives as parents of a child with Down syndrome have just begun. Our initial fears and grief have been replaced by hope, joy and determination. We have learned more in the past year and a half than we ever thought possible. We’ve read and researched about Down syndrome, about our daughter’s legal rights, and about her medical care, nutrition and therapies. We look forward to her first steps, her first words, her first day of school, her first date, to high school graduation and other schooling, and to living independently. These things will come for her, albeit more slowly. She will do things in her own time and we know that she will do and be whatever it is she wants to do and be—all within her own abilities, dreams and desires.

Her name is Ava Grace. We read in one of our baby name books that Ava means bird. We think it’s perfect—what better person to take flight than our little girl! And soar she does.

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For more information:
National Down Syndrome Society — www.ndss.org
National Association for Down Syndrome — www.nads.org
National Down Syndrome Congress — www.ndsccenter.org
Down Syndrome Association of Central Texas — www.dsact.com
Early Childhood Intervention — www.dars.state.tx.us/ecis/index.shtml
Brighthouse for Children — www.brighthouseforchildren.org

Ava Parham is the 2005-2006 ECI Child Representative for Easter Seals of Central Texas.
Amy Parham works with the Down Syndrome Association of Central Texas to educate the public about the abilities of children – and adults – with Down syndrome. Ms. Parham is also starting Brighthouse for Children, a non-profit recreational, support, and advocacy center for children with special needs. She, her two children, and her husband live in Austin.