Linda Burke recalls exactly when her family’s idyllic life came to a screeching halt: Sept. 30, 2003.
Burke and her husband, Brad, were parents to 10-month-old Hunter and were enjoying life with their new son.
That fateful day, the Cape Elizabeth couple brought Hunter to Maine Medical Center in Portland only to learn that what seemed like a viral illness was instead a rare disease known as Atypical Hemolytic Uremic Syndrome (aHUS).
“We were stunned to hear such a devastating diagnosis,” Burke said. Hunter became one of about 300 American children and 1,000 children across the world with aHUS.
“Left untreated, some genetic forms of aHUS are unpredictable and life-threatening. The condition can progressively damage vital organs, leading to stroke, kidney failure, and death,” said Dr. Carrie Gordon, pediatric nephrologist at MMC.
“The premature mortality in aHUS is caused by the formation of blood clots in small blood vessels throughout the body, known as thrombotic microangiopathy,” Dr. Gordon said, pointing out that “aHUS is a very uncommon condition; many doctors see less than a handful of cases in their careers.”
Benefitting from MMC’s collaborative approach to care, Hunter was hospitalized at MMC’s Barbara Bush Children’s Hospital from Sept. 30 until Dec. 23, 2003. A central line was surgically implanted so he could undergo plasmapheresis, a blood plasma exchange that utilized two units of packed red-blood cells and two units of plasma.
“Prior to the use of Soliris, the only effective treatment for many patients with aHUS was plasmapheresis. Over time, even when [the treatment was] initially effective, patients can become resistant to pheresis,” Dr. Gordon noted.
Dr. Matthew Hand, a pediatric nephrologist familiar with aHUS from his work at Boston’s Children’s Hospital, and Dr. Gordon treated Hunter right at MMC.
“Having knowledgeable specialists is essential for successfully treating aHUS. Families usually commute long distances to receive experienced care for these ultra-rare diseases,” Burke said.
Shortly after Hunter’s first birthday, the functions of his heart, lungs, and kidneys weakened, requiring him to be treated in the MMC intensive care unit. Now stabilized, Hunter took medications to keep his blood pressure in check. He returned to the hospital several times a week for plasmapheresis.
Seven months later, the Burkes back in the hospital: Linda, in the maternity ward, delivering baby Skyler; Hunter, on the sixth floor with a full-blown aHUS episode; and Brad, the busy go between.
While the Burkes kept a positive attitude and their boys’ lives as normal as possible, Hunter’s frequent hospital stays impacted family life for more than four years.
The Burkes learned of a kidney/liver transplant option that brought good results to one aHUS patient by eliminating the need for long plasmapheresis sessions. Hunter Burke, now 5½, underwent a similar double transplant operation at New York’s Mount Sinai Hospital in May 2008.
“Unfortunately, everything that could go wrong, did” Linda Burke sadly said. “Hunter died from complications from the operation.”
Ten months after Hunter’s death, brother Skyler was diagnosed with an active case of aHUS. After trying plasmapheresis, the Burkes opted for Soliris, produced by Alexion Pharmaceuticals. Soliris, a drug previously approved for patients with paroxysmal nocturnal hemoglobinuria (a life-threatening blood disorder) was FDA approved in September 2011 for use with aHUS patients.
“Soliris is proving to be a magic bullet for some aHUS sufferers. It directly targets uncontrolled complement activation, the underlying cause of progressive organ failure in aHUS patients,” Dr. Gordon said.
“This is the first time I have seen a therapy with such a dramatic benefit, including restored kidney function. This drug can make a remarkable difference for aHUS patients,” said Craig Langman, M.D. and aHUS expert at Northwestern University.
“Within 48 hours of Skyler’s first IV dose, lab tests indicated that his red blood cell destruction was halted, and he continued to improve,” said Linda Burke.
“Soliris allows physicians to consider kidney transplants for patients who had previously lost their kidney to aHUS before the medication was available, as a possible way to prevent the disease from recurring in the new kidney,” Dr. Gordon said.
Volunteering to support rare disease issues, the Burkes became involved with Bill and Cheryl Biermann’s Foundation for Children with Atypical HUS in Barnhart, Mo.
With Linda’s brother, Steve Greene, the family created an aHUS interactive Web site for outreach and information: www.atypicalhus.org. “We felt it vital to not let other families feel as helpless and isolated as we did when Hunter was first diagnosed,” Linda Burke said.
Her recommendation to others with rare diseases? “Join www.rarediseasecommunities.org to benefit from a disease-specific community created for your rare disorder.”