“It was so long ago, I can hardly remember what we went through,” says Jolene Bratcher about her son Zachary who is alive and well today after receiving two bone marrow transplants before he was three years old for a rare condition called Wiskott-Aldrich Syndrome (WAS).
WAS is named after Dr. Alfred Wiskott, a German pediatrician who first noticed the syndrome in 1937. Dr. Robert Anderson Aldrich was an American pediatrician who described the disease in 1954 after three brothers in one family became ill with a disease that did not affect the sisters.
According to the Immune Deficiency Foundation, WAS is caused by a gene mutation that is passed from mothers to boys that causes low platelets in the blood (bleeding), multiple infections, and eczema. Almost every family has a mutation of this gene but in very rare cases, when the mutation is severe enough, it interferes with the gene’s ability to produce a specific protein. Sometimes, a milder form of the disease may occur, but in others, the disease is very serious and life threatening.
Zachary was about two months old when he came down with his first bad cold.
“He was just too young to have a cold,” Jolene says. “I decided to take him to Seattle Children’s because we live so close, and they diagnosed him with Cytomegalovirus (CMV) pneumonia, [a lung infection that can occur in people who have a suppressed immune system]. They immediately thought that he had leukemia.”
After many tests, the Bratchers recall the doctors saying, “We have one more test we can do, but it’s highly unlikely that this is what he has…” The test was for WAS.
Thinking back, Jolene feels there were earlier signs that something wasn’t right with Zach when he was born. “His poor little head was bruised all over,” she says, “which was because of his low platelet count, but we just thought he was born too fast. A little while later, he started developing eczema.”
Rough road to healing
The only cure for Wiskott-Aldrich Syndrome is a hematopoietic stem cell transplant to replace the failing immune system.
The Bratcher’s were told that Zachary was too young for a transplant at the time and would need to wait until he was a year old. That year of waiting was not an easy one for Zach and his family. Another case of CMV pneumonia nearly took his life—he was in the intensive care unit for a month—and the Bratchers prepared themselves for the worst. But Zach struggled through and made it to his first birthday.
“Our results (for infant transplantation) are the best in the world,” says Dr. Jean Sanders, director of the pediatric clinical bone-marrow transplantation service at SCCA and Seattle Children’s, which puts SCCA ahead of the curve when it comes to confidence about working with infants.
A search for a donor revealed 200 perfect matches—nearly unheard of according to Dr. Ann Woolfrey, pediatric oncologist at SCCA and Seattle Children’s.
“We found many donors who were perfect matches—not a common situation,” Woolfrey says. “We always are happy to have more than one perfect match to choose from, first because we can use additional selection criteria and secondly, because if one donor backs out or cannot give marrow due to a medical problem, we have backup donors to choose from.”
Zachary’s donor was a woman from Germany. But, Zach was too sick for a full transplant, so his pediatric oncologist, Dr. Lauri Burroughs, performed a mini transplant – the first ever performed to treat WAS.
The transplant process starts with an intensive regimen of chemotherapy and often radiation to kill off the patient’s bone marrow. This process is called “conditioning.” The next day, the patient receives the donor’s cells (the transplant) that will hopefully engraft and begin producing healthy blood cells. Standard conditioning regimens can cause many side effects, some quite serious, especially for a young boy with pneumonia.
“Until recently, patients have not had other options, except for a standard transplant,” says Woolfrey. But since the late 1990s, doctors have used “mini transplants,” properly called non-myeloablative transplants, for some patients that use a less intensive conditioning regimen.
“We pioneered the use of the non-myeloablative transplant in these [nonmalignant] diseases,” says Woolfrey. “We have shown that this procedure is very successful in reducing the risks of the transplant.”
“We hoped this would work for Zach,” Jolene says, “and it did for a while, but a year later, he had to have another transplant.”
Transplant number two
Zachary received his second bone-marrow transplant, with the full conditioning regimen, one year later, on February 28, 2002. He was just two and a half years old.
For each of the transplants, the Bratchers stayed at the Pete Gross House, a 70-unit apartment building just a half-mile from the clinic. The Bratcher’s daughter was able to live with her family, attend school at the Hutch School with other siblings of patients, and see her grandparents, who lived nearby, on weekends.
“The sibling support is so great,” Jolene says. “There are a lot of things that you don’t know as a new patient,” Jolene says. “Parents need to know that they can say no to their doctors if they’re worried about some treatment, or wait, or ask if there are options. We were comfortable with our doctors at Seattle Children’s and they listened to us. The nurses and doctors were just incredible.”
Graft versus host disease
For several years after his transplant, Zach experienced graft-versus-host disease (GVHD) which is common for bone-marrow transplant patients. His GVHD affected his skin and his stomach mildly. He also has some higher frequency hearing loss, due to the medications he took as a child. But, by age eight, Zachary no longer takes any medications and is considered cured.
There is concern that Zach may face lymphoma later in his life, a side effect of the transplant. He gets blood draws on occasion and his immune system is being tested to see how it will react to vaccinations, as Zachary has never received inoculations for measles, mumps, polio, or even chicken pox like other children typically do.
Life after transplant
Today, Zach is one hundred percent healthy. He has a few small issues from the chemotherapy he had as a baby. “The list of drugs he was on was amazing…at least 12 at any one time plus infusions at night,” Tobby says.
“He was learning how to walk at the time, too,” says Jolene, “and there are pictures of Tobby chasing after him with the pump in one hand and hoses between them.”
Despite all that he endured, Zach has always been a happy boy.
“I never thought we’d be where we are today,” Jolene says. “We take it for granted living here, but we met people there from all over the world. It’s nice to have Children’s and SCCA in our backyard.”
“Do you remember when we came home from the hospital and Zach had a PIC line in his head?” Jolene says. Memories of the past… Zach is now an active school boy without any limitations.
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