Doug and Lori Anderson are the parents of four children: Justin, Joey, Krysta, and Austin. When they started their family, they had no idea that a lurking X chromosome would wreak havoc on their lives.
Justin was born in May 1989. He spent the first two years of his life fighting off infections with an immune system that didn’t work very well. Through ear infections, mouth sores, and pneumonia, Justin’s doctors worked to keep him healthy.
The Andersons lived in Fort Carson, Colorado back then and their pediatrician sent them to Fitzsimmons Army Medical Center in Denver. “We didn’t know what was wrong exactly with Justin. They did many tests to figure it out,” Lori says, “one being a bone marrow aspiration because they thought he had leukemia. That was one of the worst days in my life.”
That test came back negative, however, something serious was going on. His blood lacked neutrophils – the cells that fight off infections. Additional tests revealed Justin’s immune globulin levels were not normal, which could be controlled with monthly gamma globulin treatments. In 1993, Justin’s illness finally got a name: X-linked hyper IgM, a very rare genetic condition that is passed on from the mother.
Inherited gene mutation
“For some reason, I was born with the defective gene,” Lori says. “One of my X chromosomes was bad, but because I have two, and the other was OK, I didn’t get sick. Unfortunately, I passed on my bad X to Justin. Boys are born with one X and one Y chromosome. His Y couldn’t make up for the defect in the X, so he did get sick.”
The Anderson’s doctor told them that there were only 200 known cases in the world of this disease, so there wasn’t a lot of information about it. But, by the time the Andersons finally learned what their son Justin had, baby number two had already arrived and baby number three was on the way.
Joey was born in 1991, a very healthy baby boy. Number three was Krysta, a daughter.
“I specifically remember our doctor telling me that he was glad I was having a girl because she would not get sick, but she could still be a carrier of this defective gene. We decided to wait until she was older to do a blood test to find out.”
In August 2006, they found out that Krysta is a carrier of the defective gene. If she gets pregnant with a boy, he will have a fifty-fifty chance of having the immune deficiency. Meanwhile, Justin’s health improved as he grew older.
“He grew up to be a very loving, caring, young man,” Lori says, “the kind of kid that would put anyone else before himself.”
The Andersons had a fourth child, Austin, in July 1996. Cord blood tests were inconclusive for the defective X chromosome.
Fifty-fifty chance for mutation in boys
“When Austin was five months old, he got very sick,” Lori says. “Tests later confirmed that he, too, had the same immune deficiency.”
For many years the Anderson children thrived with few illnesses. They would move to Germany and return to Ft. Lewis in Washington State with the military, doing well overall. Doug was sent to Iraq in 2004 and the next year, Justin, who was now 16 years old, began to experience health troubles again. But this time, the trouble turned out to be cancer in his liver and throughout his abdomen. It took just two days for Doug to be home with his family again.
After a rigorous five months of treatment at Madigan Army Hospital, the Andersons met with doctors at Seattle Cancer Care Alliance. The goal was to get Justin well enough for a bone marrow transplant to cure his immune deficiency. They hoped Austin could receive a transplant as well, possibly at the same time.
“Not once throughout his cancer treatments did Justin ever complain about being sick and he never considered that he might die from this,” Lori says.
However, on November 15, 2006, Justin did pass away. He was 17.
“After that, our family took some time off from the medical world to grieve and try to be a family again,” Lori says. “One thing about our family is that we always try to focus on the good in everything and we try to stay positive in all situations, good or bad. I believe that’s how Justin made it 14 months with his cancer.”
Preparing for transplant
In 2007, after school was out in June, the Andersons returned to Seattle Cancer Care Alliance to start Austin’s bone marrow transplant process.
Dr. Thomas J. Manley, a pediatric oncologist at SCCA and Seattle Children’s, took care of Austin. After two weeks of processing, he decided to do a colonoscopy on Austin, just in case.
“It was a good thing, too,” Lori says, “because our nightmare hit us all over again.”
Austin had dysplasia – precancerous cells – throughout his entire colon. In one area, higher grade dysplasia meant that cancer had probably already started.
In August, Austin had surgery to remove his colon and by October he began the transplant process. His older brother Joey was the bone marrow donor and the transplant took place Nov. 1, 2007.
With a few ups and downs, by July 2008 Austin’s donor cells were at 62 percent and making headway.
“We understood that Austin’s immune deficiency was considered cured when the donor cells were at 10 percent,” Lori says. “But until his body kicks in and does what it is supposed to, and he’s at 100 percent with the new cells, then I will consider him cured.”
Austin is looking forward to being completely healthy. “He has many plans, one being to get his ileostomy reversed so he will not have to wear an ostomy bag anymore,” Lori says. “He would like to start swim lessons and he wants a chick and a duck, but he can’t have them right now because he still has a compromised immune system.”