A month ago Penny Lopez of Lakewood, Wash., faced some of the worst news doctors could give. Two of her three young children have Sanfilippo syndrome, a rare genetic disorder found in 1 in 70,000 people that will slowly lead to mental decline, spasms, wheelchairs and, ultimately, an early death.
Lopez says she fought to get 5-year-old Hannah and 1-year-old Aiden diagnosed, and so she'll fight to get treatment too. Although Hannah started showing symptoms in infancy -- she only started crawling at 12 months -- it took until Thanksgiving of last year to confirm her diagnosis. Aiden tested positive for the same syndrome later, on March 3.
Lopez said that although each child now has a confirmed diagnosis, doctors offered little else.
"They said there is no treatment, no cure for it. They gave us no hope," said Lopez. "I did research on my own, and I found doctors at Duke University who were studying this."
One of those doctors is Paul Szabolcs. Because of the nature of Sanfilippo, he says there's more hope for Aiden than there is for Hannah.
"Children can never be normal with Sanfilippo," said Szabolcs. "What we are hoping is that further deterioration can be halted and to some degree some new milestones can be reached."
Szabolcs said children with Sanfilippo lack an enzyme that helps the body clear old sugar molecules from cells. Year by year, the molecules build up, causing irrevocable damage to the brain and other organs.
"Typically what happens in Sanfilippo is they keep learning until they are 2 years old, and then they stop learning, and they are stuck and in some cases start declining," said Szabolcs, who is an associate professor of pediatrics and assistant professor of immunology at Duke.
Children lose words, their livers swell, eventually they start seizuring and, Szabolcs says, "the majority may die within the teen years with seizures and complete mental retardation."
"The hope is here that we are providing the enzyme to Aiden at not too late of a stage," said Szabolcs.
Facing A Diagnosis, Fighting Insurance Denials
The Lopez family gets health care through TriWest HeathCare Alliance, which is management contractor for TRICARE -- the government-sponsored health plan for military families. For now, Szabolcs is waiting to hear the final word from TRICARE, located near Washington D.C.
Scott Celley, vice president of external affairs for TriWest HeathCare Alliance, said the decision to deny the Lopez family's treatment claims had nothing to do with cost.
"It will not matter at the end of the year, plus or minus a penny, whether we cover this or not," said Celley. "We deliver care for the military, but it is the military who sets the guidelines. When there are exceptions, the final decision on this thing rests with the military."
The TRICARE coverage policy will automatically cover stem cell transplants for cancer treatments. But the policy states that "benefits for rare diseases are reviewed on a case-by-case basis by the Director…"
Austin Camacho, spokesperson for TRICARE management activity, said the Lopez case "is in the appeals process right now" and will likely be resolved soon.
A team of both doctors and lawyers will have to decide the Lopez case since some TRICARE coverage is legislated by Congress.
Celley said appeals decisions will also have to factor in the risks of the treatment.
"Sometimes these treatments do more harm than good," he said.
Weighing Risky Treatment Against Terminal Case
Szabolcs said he has written several letters and spoken with senior management at TRICARE on behalf of the Lopez case.
"A patient of mine's mother indicated to me that she's going to write a letter in support," said Szabolcs.
Yet Szabolcs would be the first to confirm there are risks involved with the stem cell transplant treatment modeled after care used for leukemia patients.
First the child receives chemotherapy to wipe out the diseased blood cells. In the case of leukemia, the disease is cancer but in the case of Aiden, it's his genetically dysfunctional blood cells.
Szabolcs said doctors then inject blood stem cells from a donor. In the case of Aiden, it will be cord blood (from afterbirth) stem cells.
Hope in a Stem Cell Treatment
"By these new healthy cord blood cells being everywhere, they would be able to generate the enzyme he's missing," said Szabolcs.
But Szabolcs said it's not just Aiden's blood cells that are dysfunctional.
"This is never a cure," he said. "None of the cells in [his] body can produce this enzyme. We cannot replace every organ in the body, however, the white blood cells are little carriers to the whole body."
Szabolcs said with all chemotherapy and stem cell treatments, the risks are high.
"It is dangerous," said Szabolcs, who estimated the long-term survival rate for the procedure is more than 70 percent.
"Some children, from any age, die from undergoing the high dose of chemotherapy and having the period of low immunity."
The Lopez family is willing to relocate for the seven months necessary to complete the treatment process.
Szabolcs said aside from a local community charity that could help with meals or transportation, the Lopez family or their health care plan would have to pay for the treatment and hospital visits.
"We know what is going on with Hannah right now. We know how frustrated she gets because she can't communicate," said Lopez. "If we can prevent that for Aiden, we're going to fight."
Lopez said if they are denied once more, they will not be covered.
Thus far, some of those who have learned of the Lopez's struggle to get the treatment for Aiden have offered donations. One woman has even set up a fund. But Lopez said that their goal is not to get donations from the public.
"We just want TRICARE to change their mind.... What if other families are going through the same thing and don't know what to do?" asked Lopez. "As a parent, you know what's best for your child. So push. Keep on pushing. If you don't like what one doctor is saying, move on to another."