The Little Boy With The Mystery Disease
Countless doctors could not save my son from the ravages of his rare and incurable illness. But I was determined that something good would come out of the tragedy.
By Vicki Modell as told to Phyllis Battelle
When Jeffrey was born, my husband, Fred, and I were surely the happiest couple in New York. Our baby boy was very healthy, although he weighed only five and a half pounds and had an enlarged spleen, a condition the doctor said might be a sign of infection.
But Jeffrey quickly put on weight and became pink cheeked and chubby, with sparkling blue eyes. When he was nine months old, though, we got our first clue that all was not well. We were visiting friends when suddenly Jeffrey stopped gurgling in his crib. His face turned a jaundiced color, and when I took his temperature, it was 105. We thought of rushing him to the nearest hospital, but his pediatrician had been my childhood doctor and I had total faith in him, so we raced the 60 miles back to the city. Our doctor met us in his office, and he was not only concerned but baffled. The symptoms indicated hepatitis- almost unheard of in a child so young. Within minutes we were checking our baby into Mount Sinai Medical Center.
I was so frightened I refused to leave. A cot was brought into Jeffrey's room so I could spend the night. By morning his fever had subsided, but the doctors kept him at the hospital for nearly a week of tests. Finally, the chief hematologist gave us his devastating verdict: Jeffrey was suffering from a severe defect of the immune system called hypogammaglobulinemia- a disease that mystified even doctors. Gamma globulin is a component of the blood that helps the body fight off life-threatening infections. Jeffrey wasn't producing enough of it, perhaps because of a genetic flaw, and his immune system couldn't ward off infections. Possibly this was the reason his liver didn't seem to function normally.
With that diagnosis, our world was shattered. At any time our son could contract a potentially deadly disease. My husband and I were desperate to know how we could protect him.
There was no cure, but Jeffrey would be given massive injections of gamma globulin to help strengthen his immune system. "There's even a chance he'll outgrow it,"' our pediatrician said. "In the meantime keep him away from situations where he might be exposed to infection." That meant avoiding crowds and playmates who might be sick. Despite these limitations, Fred and I resolved to make our son's life as normal as possible.
Jeffrey was so outgoing and cheerful it was easy to forget that a time bomb was ticking inside him. Every month a doctor gave him two shots of gamma globulin, using a hug needle.
Each injection lasted three minutes, and Jeffrey would scream in pain. But the shots kept his illness under control. He had an occasional cold or ear infection with a fever but always bounced right back. By the time he was five, we began to feel we were safe and sent him to kindergarten with the doctors' blessing.
Jeffrey was such a delight that Fred and I longed for a second child, but we were worried about the genetic risk. We traced our families' medical histories back to our great-grandparents and found nothing unusual. Besides, at that time doctors weren't sure Jeffrey's problem was genetic. We were told that because I was healthy and young we should go for it.
In 1973, after a smooth pregnancy, we were overjoyed when our daughter, Lori, was born. She was tiny, only four pounds, but appeared perfectly healthy. Soon after we came home, though, we noticed she didn't respond to sound. I was terrified, sure she was deaf, but when we brought her to the doctor the diagnosis was far worse: Lori was so severely mentally disabled she'd never be able to walk. Between caring for her and Jeffrey, I was nearing a breakdown.
When Lori was 18 months old, we made the wrenching decision to put her in a special school in Pennsylvania, where she flourished. With an IQ of 55, she would never be able to read or write, but over time she did learn to walk and became very verbal. Jeffrey and Lori adored each other. After our monthly visits I'd hear him tell his friends, "I've been to see my little sister, who's not well."
Of course, Jeffrey wasn't well either. Every year his condition got worse, with more sudden infections, and hospital visits lasting ten days or more. I always stayed with him-there were months when I spent more nights in the hospital than at home. As Jeffrey's constant companion through the worst times, I bore the brunt of his fear and frustration. Sometimes he'd shout, "I'm sick of this! You and Dad went to college- you're smart. Why can't you do something?"
His desperate pleas brought tears to my eyes, but I didn't want Jeffrey to know how scared I was for him. One day when he was about ten he said wistfully, "I wish I had leukemia." Stunned, I asked him why. "At least leukemia has a name," he said. "And they know how to treat it.'
Suddenly we understood how he must feel having such an obscure disease. I remember Fred saying to the doctors, "Jeffrey can't be the only person with this disease. There must be other families we can call." But the doctors couldn't or wouldn't help, so Fred began to contact research hospitals all over the world in search for treatment. As Jeffrey's condition worsened, our lives became a blur of visits to hematologists, liver specialists, immunologists, rheumatologists, and every other "ologist" we could think of. No one had answers or could put us in touch with other victims. "If you have a kid with cancer, there are twenty institutions you can contact", Fred said in frustration. "But if you have a kid who just gets sick all the time, you have nowhere to turn."
By the time Jeffrey was 13, we'd given up hope that he might outgrow the disease. Between illnesses he was like any other kid. He was a good student, played tennis, went to rock concerts, and had a girlfriend. He dreamed of someday enrolling in Fred's alma mater, Columbia University, and becoming a humor writer. But he could never plan ahead. I can't count the times he was to perform in a school play or go to a dance, only to wind up in the hospital with sinusitis, bronchitis, or some other infection.
His constant disappointments broke our hearts, so one day when he came home from school with a permission slip to join his eighth grade class on a whaling expedition on Cape Cod, Fred and I reluctantly said yes. We knew how cold, damp, and tiring the trip would be, but we also knew how desperately Jeffrey needed to feel normal. Sure enough, other kids on the trip came home with colds, but Jeffrey ended up in the hospital with pneumonia. He recovered, but this time our pediatrician shook his head and told me, "Jeffrey is like a cat with nine lives. And he's already used up seven or eight."
We always knew that someday we could lose our son. Yet nothing prepares you for it. One Saturday in 1985, when Jeffrey was 15, we drove to New Jersey to watch a football game between Princeton and Columbia. It was a beautiful fall weekend, and I don't think the three of us ever had more fun. But two days later Jeffrey's eyes were glazed over with fever, and he was having trouble breathing. We raced him to the hospital and into intensive care. Even with an oxygen tent, he couldn't breathe and was put on a respirator. The diagnosis was Pneumocystis carinii pneumonia, a lung infection that is often fatal to patients with immunodeficiency diseases.
With the help of antibiotics, Jeffrey made yet another come back. He was still too weak to go home and was rapidly losing weight, but we clung to the hope that this was just one more episode, that he would soon be on his feet gain.
For seven weeks, from Thanksgiving until mid-January, he hung on, but his lungs filled with fluid and his condition was critical. One day a pulmonologist took me aside and said, "Even if your son makes it through this and can breath on his own, scar tissue is forming in his lungs. I doubt he'll ever be the same." I felt numb. I thought how unfair it was for Jeffrey to fight so hard to survive, only to face more torture.
But Jeffrey didn't have the strength to win this last battle. Fred and I were together at his side the day he died. As we watched him lying in bed, hooked up to the respirator, we saw the wonderful spark in his eyes go out. We knew his suffering was over, but that gave us no comfort. Saying good-bye to our little boy was more painful than we could ever have imagined.
WITHOUT JEFFREY, OUR WORLD FELT profoundly empty. Fred threw himself into his wholesale jewelry business, and I took a volunteer job working with children and elderly patients at Mount Sinai. But our apartment felt like a prison of loneliness. We would have loved to bring Lori home to help fill the terrible void, but that would have been selfish. She was happy and thriving in her special school. The first time we visited her after Jeffrey died, her first words were, "Where's Jeffrey?" I struggled not to cry as I told her what the housemother had suggested: "The Lord wanted Jeffrey to come to Heaven and live with him." Lori smiled. That was good enough for her.
But no explanation was good enough for us. For more then a year we went through very rough times, fighting to hold ourselves together. Our families tried to help. A cousin of Fred's, Shelby Modell, suggested we start a foundation in Jeffrey's name to help other children with immunodeficiency disease. I was too submerged in grief to even consider the idea, but she didn't give up. About a year and a half after Jeffrey's death, she invited us for dinner to meet a couple who had lost their 16-year-old daughter to leukemia. They had started a foundation in her memory.
That night changed our lives. After seeing how content this couple were, Fred and I thought that maybe we could be like them. Maybe we could bring back some joy in our lives by helping others.
That's when we started the Jeffrey Modell Foundation, to raise awareness as well as money for research. We've learned that what Jeffrey had, hypogammaglobulinemia, is only one of 70 separate immunologic disease known collectively as primary immunodeficiency. Its victims are born with lowered resistance to illnesses of all kinds. And it's not rare, as doctors once thought. At least 500,000 Americans, many of them children and young adults, suffer from it- more than from leukemia and lymphoma combined. Victims may suffer from repeated illnesses or infections, such as sinusitis, bronchitis, earaches, or pneumonia, that are treated but keep coming back. a simple blood test can turn up an antibody deficiency and alert doctors to the disease.
Jeffrey might still be alive if primary immunodeficiency had been as well understood then at it is today. New antibiotics, intravenous immunoglobulin preparation, perhaps gene therapy in some of these diseases, and antiviral medication lower mortality rate, especially when treatment begins early. Still, there is much more to be learned. Sometimes it all seems overwhelming, but then we remember all the times Jeffrey cried out in frustration, "Why can't you do something?" and know we must keep trying.
The pain of losing our son never goes away. I'll be walking down the street when suddenly it hits me and I'll stop in my tracks, holding back tears.
Then I'll carry on, because I learned from an expert named Jeffrey Modell how to be a fighter.
Editor's note: if you suspect that your child or someone in your family may have primary immunodeficiency, call the Jeffrey Modell Foundation's 24-hour hotline
(1-800-JEFF-844) for more information and, if necessary, referral to a leading medical center. The foundation has also started a patient registry so that families living with the disease can contact one another. All these services are free. In November Senator Joseph Lieberman of Connecticut introduced a Senate Joint Resolution to declare Primary Immunodeficiency Awareness Week to help bring national attention to the disease.