The Nicola's Story

-by Garry Ann and Edward Nicola, Whittier, California

DOCTORS, NURSES, HOSPITALS, CLINICS, INSURANCE COMPANIES, EMPLOYEE BENEFITS, LABORATORIES, PHLEBOTOMISTS, RADIOLOGISTS, JUDGES, ATTORNEYS, AND THE IRS, we've dealt with them all.

Our three daughters, D'Arcy, Diane and Danielle, and their father, all have Severe Chronic Neutropenia (SCN). Participating in Amgen's G-CSF study through the University of Washington Hospital has improved our quality of life and drastically reduced our dealings with these various agencies.

Diane nearly died in 1972 when she was eight months old. It was at this time that we learned about our family's hereditary condition called cyclic-neutropenia. To date, we have identified nineteen family members, four generations, with cyclic-neutropenia.

Our first daughter (D'Arcy) was born in July of 1970. Looking back, symptoms of her neutropenia began immediately. Even as a baby, she saw the doctor several times each month. When I said this isn't normal he would say "D'Arcy is prone to viral infections," and prescribed more antibiotics. The neutropenia could have shown up in a blood test during one of the many illnesses.

Diane was born in December 1971 and began the same pattern of sickness and doctor visits. When one was ill the other was well. They took turns at the doctor's but now he said, "both your children are very prone to viral infections." Again, no blood tests were ever done.

Diane was due for her eighth month "well-baby" checkup. She was sick again. "Bring her in anyway - it's OK," they said. She was at the doctor's each of the next four days, with new symptoms and new medication prescribed each time. He said, "I've never seen anything like this before." At her last visit she was given thorazine to stop projectile vomiting, and aspirin for her 104° fever.

When her doctor wasn't available the next evening, in desperation we went to the Emergency Room. The doctors there were alarmed and we were sent to the USC Medical Center Contagious Disease Ward. Once there, we were accused of abuse and threatened with police action. And the blood tests finally began. After many tests, and three days later, it was determined that Diane had a bacterial infection in her blood stream (pseudomonas), caused by over medication.

The infection had spread throughout her body and she had sores all over. The worst was what looked like a giant bruise, as a result of the infection spreading to the damaged tissue caused by the injection of thorazine she had gotten from the pediatrician the day before.

Once the problem had been diagnosed, and the proper treatment given, she recovered quickly, except for the damaged tissue from the injection. The treatment, at the USC Burn Clinic, to heal this sore was difficult and took over four months. Diane has had plastic surgery twice to reduce the scarring.

During the seven weeks Diane was being treated, her blood was tested daily, and in detail (CBC with manual diff.). one of the doctors noticed that her neutrophils cycled (cyclic-neutropenia). She was diagnosed with cyclic-neutropenia. At that time what little information there was on cyclic-neutropenia indicated that it could be hereditary.

At the time, there were only forty or so cases recorded in the world. With Dr. Wilkinson we began checking our family for the condition. First he checked the parents (GarryAnn and Ed), and found that Ed has it. Then Ed's parents were tested, and found that it came from his mother. His sister and brother both were found to have it. Every member of the family that could be, was tested. To date nineteen family members with cyclic-neutropenia have been identified.

When our third daughter, Danielle, was born in August of 1974, she was tested for a year for the condition. She would have been the youngest cyclic-neutropenia patient ever discovered. She did not have it. However, at three and one half years she was diagnosed with Acute Lymphocytic Leukemia (ALL).

The family began another ordeal. Diane began chemotherapy, and remission was achieved. After two and a half years chemotherapy had to be stopped because of a severe case of Chicken Pox. Remission only lasted six months. She relapsed and chemotherapy was restarted and remission again achieved.

The option of a bone marrow transplant was presented as her best chance to live. Again we faced a life or death decision. A bone marrow transplant was done in July 9f 1981.

Daughter D'Arcy was the first donor for the transplant. Before the transplant we were told that a diseased marrow was not usually transplanted. Since Danielle and D'Arcy's marrows were a very close match, the transplant was recommended. We decided that cyclic-neutropenia would be better than Leukemia and went ahead with the transplant.

This was a very emotional time for all of us. Diane wished she could be the donor. D'Arcy worried about whether her marrow would work. We wondered how long we would be making these life and death decisions for our children. Danielle was in isolation for thirty-two days after the transplant. I spent nights and her mother spent days with Danielle in her hospital room. During one of those long nights I captured some of the emotions I was feeling in a poem.

As it turned out, the neutropenia was transplanted from D'Arcy to Danielle. This was published in the medical journals since it showed that cyclic-neutropenia is a condition associated with the stem cells.

Dr. Dale and Dr. Hammond at the University of Washington hospital had been doing neutropenia research. When they learned about our family from the journals they contacted us about possibly participating in their study and testing of G-CSF.

D'Arcy was one of the first patients to join Dr. Dale's study, later Diane and I joined. Danielle also began taking G-CSF on a compassionate basis. We all began enjoying the benefits of the drug immediately, including fewer dealings with the many agencies associated with medical services.

This short version of our twenty plus years of dealing with our condition has been difficult, trying, and occasionally traumatic, but thanks to G-CSF the last few and hopefully the future years will be happy and healthy.