The Story of Zack: The Benefits of Early Treatment and Compliance

The following is the story of a child with Type 1 Gaucher disease. All names and other identifying information have been changed to protect privacy.

Zack is a teenager who holds a black belt in judo. He weighs 100 pounds and stands five feet, five inches tall. He leads an active life, does well in school, enjoys reading, hiking, rock climbing, and listening to rock music. Zack also suffers from Type 1 Gaucher disease. Zack’s story is one of hope, highlighting the potential benefits of early treatment and compliance with therapy for patients with Type 1 Gaucher disease.

From outward appearances, one would never guess the difficult road that Zack, his mother, and caregivers have traveled over the past six years. However, he did suffer many hardships and setbacks in the early days before being diagnosed and beginning treatment.

Symptoms came gradually

Zack’s health problems surfaced slowly. His mom’s pregnancy and delivery were typical. “Zack was born weighing slightly less than seven pounds, and passed all of his newborn tests,” his mother Jill recalls. “As a child, however, Zack lacked energy and always had a slightly swollen stomach. Although he played hard and ate very little, he had a big belly. He was slightly smaller than other boys and girls his age. He also slept often, taking long naps during the day.”

Jill began to get concerned about her son’s health on his fifth birthday. “Zack slept through his birthday party and complained of a pain in his neck, which turned out to be swollen glands,” says Jill. “It seemed that from this point on, Zack grew steadily sicker and became lethargic. His only love was television, and he would watch constantly.”

Diagnostic challenges

When Zack was about to enter kindergarten, his mother took him for a required wellness checkup. The primary care physician who examined Zack was concerned about his enlarged liver and spleen and referred him to the local hospital. After blood tests, Jill was told that Zack had a type of mononucleosis. She was also told that it would take a year for his health to improve. After ten months with no improvement, Jill began to question everything, including the diagnosis. “It didn’t make sense to me that a six-year-old boy could have mono. We knew that Zack had a degenerative disease, but we didn’t know the cause.”

Gaucher identified

In August of 1996, Zack was referred to a leading children’s hospital in his area and met with Dr. William Jacobs, a pediatric infectious disease specialist. “Zack presented with an enlarged spleen and liver,” states Dr. Jacobs. “I felt strongly that Zack was not suffering from an infection (which is why he was referred to me), but had some type of a [lysosomal] storage disease. I immediately had a liver biopsy done and when the test came back, the results had confirmed the presence of Gaucher cells.”

Getting the facts

Dr. Jacobs admits that at the time he didn’t know much about Gaucher disease and the implications of the illness. “I had never seen a case before. My first step was trying to figure out what Gaucher disease was and what it meant for Zack,” says Dr. Jacobs.

Zack’s mother also did not know what to expect from this disease. “I learned about Gaucher disease through some excellent caregivers, including Dr. Jacobs and an expert on Gaucher disease,” Jill recalls. “When I took Zack home to begin the process of fighting this disease, both doctors were there for me, answering my questions and offering support.”

Jill learned that there were three kinds of Gaucher disease: Types 1, 2, and 3. Zack was diagnosed with Type 1 disease. “I learned that Type 2 and Type 3 were thought to involve eventual neurological symptoms,” she says. “When I found out that Zack had Type 1, I was fairly relieved that there was no neurologic damage but I understood that there was a long fight ahead with this illness.”

And it proved to be a tough fight for Jill and Zack. “Over time, I watched as Zack’s health continually declined. His spleen became enlarged and his fatigue level worsened considerably. His platelet count dropped to an alarming level,” says Jill. “I was getting desperate. I watched my child getting sicker with each passing day. I felt especially isolated because friends and family had never heard of the disease.” Eventually Jill learned more about Gaucher disease and various treatment options. She and her son’s physician arranged to have Zack begin Cerezyme therapy as soon as possible.

At last, a helpful treatment

“Zack’s infusion therapy started in March 1997 and within three to six months of regular treatments, he became healthier and more active,” states Dr. Jacobs. “As his visceral (organ) and hematological (blood) parameters improved, he had more energy, a better appetite, and was more alert.”

As Dr. Jacobs points out, “Over the long term, many patients on Cerezyme therapy do well; they show a shrinking in the liver and spleen once they start treatment. As Zack continued therapy, his signs and symptoms improved and both he and his mother are pleased.”

Results for Cerezyme therapy may vary. Please see important safety information below and full product information (PDF)

Important Safety Information

Approximately 15% of patients have developed immune responses (antibodies). These patients have a higher risk of an allergic reaction (hypersensitivity). Use Cerezyme® (imiglucerase for injection) carefully if you have had an allergic reaction to the product in the past. Symptoms suggestive of allergic reaction happened in 6.6% of patients, and include anaphylactoid reaction (a serious allergic reaction), itching, flushing, hives, an accumulation of fluid under the skin, chest discomfort, shortness of breath, coughing, cyanosis (a bluish discoloration of the skin due to diminished oxygen), and low blood pressure. Side effects related to Cerezyme administration have been reported in less than 15% of patients. Each of the following events occurred in less than 2% of the total patient population. Reported side effects include nausea, vomiting, abdominal pain, diarrhea, rash, fatigue, headache, fever, dizziness, chills, backache, and rapid heart rate. Because Cerezyme therapy is administered by intravenous infusion, reactions at the site of injection may occur: discomfort, itching, burning, swelling or uninfected abscess. Cerezyme is available by prescription only. For more information, consult your physician. To learn more, please see the full product information (PDF) or contact Genzyme at 1-800-745-4447.