Family and child face rare, terminal illness

DOTHAN, Ala. (AP) — When Dianne Whaley’s son Jeremy called to say his oldest child Jeremiah had been diagnosed with Fanconi anemia, she had no idea how serious it was.

“We didn’t have a clue what they were talking about,” she said. “We just figured his blood was low … We thought that medication would work, and then Jeremy said, ‘No, mother, this is bad.'”

If you haven’t heard of Fanconi anemia, you’re not alone. It is a rare bone marrow disorder, affecting about 1 in 131,000 babies born in the U.S. Approximately 31 are born with FA each year.

The inherited disease prevents bone marrow from making enough blood cells. Low levels of blood cells can harm many of the body’s tissues, organs and systems.

The disease is unpredictable. The damage is often cumulative and irreversible.

The National Institutes of Health says the average lifespan for people who have FA is between 20 and 30 years, but some patients live into their 30s, 40s and 50s. The most common causes of death are bone marrow failure, leukemia and solid tumors.

It’s not the news a grandparent wants to hear, especially when the 3-year-old lives nearly 300 miles away.

According to the NIH, FA is a type of aplastic anemia. The bone marrow stops making or doesn’t make enough of all three types of blood cells.

White blood cells live less than one day, platelets live about six days and red blood cells live about 120 days, so bone marrow must constantly make new ones.

“With too few red blood cells, your body’s tissues won’t get enough oxygen to work well,” the article says. “With too few white blood cells, your body may have problems fighting infections. This can make you sick more often and make infections worse. With too few platelets, your blood can’t clot normally. As a result, you may have bleeding problems.”

The disease affects the body’s development. Symptoms can include an abnormal heart, lungs and digestive tract, along with bone and kidney problems.

There is no cure for FA, but bone marrow transplants can help treat it.

Signs of the disease became more noticeable when Jeremiah was about two.

“The bruising is the biggest thing that would happen,” his father said. “The lower his platelets were, the more bruising you would see.”

The child got sick easily. “He would run a high fever fast,” Jeremy said.

Those signs didn’t necessarily mean the child had FA, because other medical conditions have similar symptoms. Only after more testing was the genetic disease identified as the cause.

Jeremiah went to St. Jude Children’s Research Hospital in Memphis, Tenn., at the end of last week for testing and evaluation. Once doctors determine the exact type of FA he has, they can set a course of treatment.

Both Jeremy and his wife, Jennifer, are in the medical profession. He is a registered nurse at Huntsville Hospital working on a nurse practitioner degree, and Jennifer is a medical assistant at a dermatology office.

Because of their background, it’s easier for them to grasp the information they’ve gathered about FA. “Being in the medical field has helped us understand those disease processes more clearly,” Jeremy said.

For people unfamiliar with medical terminology, the material obtained through websites and publications can be overwhelming.

Laura E. Hays, executive director of the Fanconi Anemia Research Fund in Eugene, Ore., said her organization’s website provides not only education and support services to families affected by FA, but also information to doctors who might know little to nothing about the disease.

Hays said the more information you can give to someone with a rare disease, the more it empowers them to talk to their doctors.

She said more than a dozen genes can cause FA.

“Depending on which gene mutation you have, that can affect the course of the illness,” she said.

Some people are diagnosed as children and others as adults, and “that can affect the course of treatment,” she said.

Her organization has compiled guidelines for clinical treatment.

“We get all the experts together, they come up with what’s the agreed upon course of treatment, and then it’s in our guidelines,” she said.

“Usually people that have any kind of bone marrow failure, they get a transplant. The success rate is much higher if you do it when you are younger.”

The earlier FA is detected, the sooner the patient can begin receiving treatment. Jeremiah was diagnosed when he was about 3-and-a-half years old.

FSU football coach Jimbo Fisher announced in April 2011 that his youngest son, Ethan, was diagnosed with FA. At its season opener on Sept. 2, the FSU team honored the boy, now 8, by wearing a helmet decal promoting the Kidz 1st Fund, a nonprofit organization Fisher and his wife, Candi, formed in August 2011 to help raise awareness and funds for FA research.

“With Jimbo Fisher’s son having this disease, there’s more awareness of it,” Dianne said.

For Dianne and her husband Zack, who run Zack’s Family Restaurant locations in Slocomb, Dothan and Enterprise, “the first week was just more or less that you dreamed this and you would wake up,” she said. When reality finally sank in, “it was hard, hard the first few weeks.”

Dianne started asking people she knows to pray, not just for Jeremiah but for all members of the family.

“We knew that we had to go to a higher source with this,” she said.

The boy’s parents are also relying on prayer and hope. They just found out the results of bloodwork on their 6-month-old daughter, Jenna. She does not have FA.

They do have a plan for Jeremiah.

“Life expectancy is from 25 to 30, and that’s reality,” Jeremy said. “But the thing is, if you have a child that’s diagnosed with a terminal illness like this, it usually gets worse before it gets better. Live life to the fullest.”

He plans to make sure his son experiences great things and has the happiest life possible. He doesn’t want his son to suffer.

Doctors might find a cure for the genetic disorder, “but as for now they’re more on the treatment side than the curing side” for FA, he said.

“My hope in medicine is slim for now compared to my hope in God,” Jeremy said.

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