Loving Sarah
David Parsons

After we dropped Sarah off, I sat in the car and I cried. Actually I sobbed. All of the frustration, anxiety, fear and love went through my body in one spasm after another; I remember all the sleepless nights, doctors, hospitals, special diets, vomit and diarrhea. Then there were all the words I could hardly spell -- hyperammonemia, urea cycle deficiency, ornithine transcarbamylase.

But I also remember all the tender moments with Sarah -- her giggles and laughs, her teasing, her love and her courage.

After 20 years of living at home, Sarah was now enrolled in a residential school. I missed her already, and as tears poured down my face and old emotions swirled around me, a whole new set of fears jumped in -- who would watch and protect her, check her diet, hold her hand, help her dress in the morning, and kiss her goodnight?

On the familiar drive to pick Sarah up for a weekend visit home, I turn off the radio and roll down the windows on a beautiful September afternoon. I want to write about my life with Sarah, but how do I write about something that is as much a part of me as breathing? I’m still reflecting on our life together as I pull into the same parking lot where I say crying five years earlier. I turn off the engine, settle back and let the memories wash over me. I don’t have to go looking for Sarah -- I know I will hear her long before I see her...

Life with Sarah

Sarah has a deficiency of a liver enzyme called ornithine transcarbamylase (OTC) which is critical to protein metabolism. The condition is classified as a urea cycle disorder. By the time Sarah’s condition was diagnosed, she had suffered irreparable brain damage.

Life with Sarah is much what it must be like to be a Siamese twin. She is all consuming; her moods affect my own. If Sarah tugs to the right, I have to follow; if I want to go the left, I have to pull her along. Small trips to the store can become major events. Sarah may get scared and scream hysterically, or she may decide she wants a piece of candy and have a full blown tantrum -- sitting in the middle of an aisle and screaming at the top of her lungs. Because Sarah is hyperactive, playtime usually becomes a constant state of turmoil. In trying to relate to other kids, she pokes, hits and aggravates others. Her friendly personality, however, must somehow pull her through because most kids develop a real affection for her.

Sarah is one of the most loving people I know. She thrives on people, and plays hostess at most parties, introducing herself to everyone. In fact, she has a dynamite personality. You always know when Sarah is around. Life with Sarah is full of emotions, often all mixed together at the same time -- from love to hate, panic to calm, and everything in between. This dichotomy of emotion is symbolized by my two greatest fears -- the first that Sarah will die, and the second, that she will outlive Pam and me.

A joint effort

No part of my life escapes the effects of Sarah -- family, social life, business life, marriage, and sex life. It has been a joint effort, with my wife, Pam, taking the brunt of it, and the rest of us pitching in. For the family, it has been a shared sacrifice. Vacations were nonexistent when Sarah lived with us; even little things like movies were few and far between. But I have watched my other kids grow up with a strong sense of moral and emotional strength. Living through crisis after crisis teaches priorities.

Our marriage has come close to the breaking point more than once. It was hard enough when Pam gave birth to twins -- Sarah and her brother. But Sarah’s disease was truly traumatic. She had lapsed into comas twice by the time she was eighteen months old. She couldn’t sleep and would thrash and cry all night long.

The doctors were brutal on Pam, telling us that Sarah’s problems were the result of some sort of psychological mother-daughter syndrome (funny how they never thought it was a father-daughter syndrome). They ignored the fact that Sarah’s twin brother was a happy, healthy baby. The doctors put Sarah in the hospital, told us to stay away and force fed her until she was comatose and paralyzed on her right side. Only then did the doctors decide maybe it wasn’t psychological. The end result -- besides an irreparable assault to Sarah’s brain -- was an emotional cauldron of guilt, betrayal, bitterness, and hatred that Pam and I must dance around.

Constant stress

Romance and sex were something I saw only on soap operas. Pam and I had no time to be alone. In 18 years, we had only one vacation as a couple. A night at the movies or dinner alone was a major event. Baby sitters were hard to find and Sarah’s grandparents couldn’t handle her any better than the baby sitters.

The stress was constant. When Sarah was healthy, she was in constant search of food. We had to watch her like hawks or she would sneak food and end up sick. When Sarah was sick, it required constant vigilance to make her healthy again. In her early years, she was a guinea pig for researchers. At the time of her diagnosis, she was only the fifth known case of OTC in the country, and the other four were dead. Needless to say there was no romance, no sanctuary for retreat, no quiet from the storm.

Sarah has made great strides. She has slowly grown out of her hyperactivity, and her social skills have greatly improved. Still, it has been a roller coaster ride for all of us. Many of our fears in sending Sarah away to school have been realized. Two years ago she developed serious behavioral problems, and she has been with a one-on-one aide ever since. But she has gradually improved, and for the last six months has done very well. There is great hope for the future.

Back at school

..... "Daddy! Daddy! Daddy!"

I look up to see Sarah running toward me, both arms straight out in front of her, trying to hug me from a block away. She is running, laughing, giggling, and screaming with delight, all at the same time. She keeps her arms outstretched the whole way across the courtyard. I climb out of the car and try to keep from crying so she won’t ask me, "Daddy, are you sad?"

She reaches me with a big hug. I pick her up and swing her around in the air, then set her down and give her a kiss. She puts her hands on the sides of my face and whispers in my ear, "It’s not easy being the best, is it Dad?" That’s her favorite question and a routine with us.

"No, Sarah, it’s not," I say.

"You’re my friend, aren’t you Dad?"

"Yes, I’m your best friend."

"I love you Daddy."

"I love you too, Sarah."

And we get in the car and head for home.

February 17, 1995 follow-up:

One thing you can say about Sarah, there is never a dull moment. Last week we received notice from St. Coletta’s that after six years they are discharging Sarah in 30 days. Although her health has been exceptional the last three years since she has been on Sodium Phenylbuterate, her behavior continues to present challenges. All of my worst fears when we first enrolled Sarah at St. Coletta’s have come true. Through a combination of mismanagement, abuse, and internal organizational problems while at St. Coletta’s, Sarah has become traumatized. The painful lesson in all of this is that nobody cares about these kids except their parents, and it is a battle every step of the way. And we are back to square on in trying to help Sarah find a life for herself.

David Parsons
Barrington, Illinois 

David Parsons graduated from Yale University with a BA in English in 1968 and Yale and an MFES in environmental studies in 1971. He lives in Barrington, Illinois with his wife, Pamela, and children, daughter Sarah and Michael, 26, Melissa, 22, and Sean, 13, in Barrington, Illinois. Active in the real estate profession for 22 years, he is president of a land development company and a construction company.

This piece originally appeared in the Urea Cycle Disorders Association Newsletter.
This article was published in "Fathers Voices," Exceptional Parent magazine, June, 1995.

A urea cycle disorder is one of six genetic disorders causing an enzyme deficiency in the urea cycle. The urea cycle is the body’s way of breaking down excess protein into urea, which is eliminated from the body with urine. The urea cycle requires different enzymes, but when one of these enzymes is missing, it creates a blockage in the cycle that results in the build-up of ammonia in the blood. The highly toxic excess ammonia (known as hyperammonia) reaches the brain through the blood where it may cause irreversible brain damage and/or death.

One in every 25,000 children is affected by a urea cycle disorder. Many physician believe there are many more cases, but they are not properly diagnosed. The effects of a urea cycle disorder usually do not appear until the first 24 hours of life. At that point, the infant becomes lethargic and begins vomiting. Soon after, seizures, decreased muscle tone, respiratory distress and coma may occur. Death generally occurs if no immediate intervention is take to decrease the ammonia level. Cases where symptoms appear at later ages may be caused by a partial (rather than total) enzyme deficiency.

Treatment, individualized for each child, generally consists of a low-protein diet, and the use of medications which provide ammonia removal. Prompt treatment may prevent brain damage and/or death.

This information was provided by the National Urea Cycle Disorder Foundation, P.O. Box 32, Sayreville, NJ 08872 (800) 386-8233.