Julie Purschke was determined to stop her son’s deadly genetic disease before it started.
When Nicholas was born, Julie had him screened for adrenoleukodystrophy (ALD), a rare and often fatal genetic disease that claimed the life of her father years ago.
ALD destroys myelin, a protective coating on the brain’s neurons, which reduces brain function over time. As it progresses, the disease can cause blindness, deafness, movement impairments, seizures and death. It most severely affects boys and men, and is passed along the genes on the mother’s side of the family. Julie was just 15 when she found out she was a carrier for ALD.
Nicholas’ newborn screening revealed that he, too, had the genetic abnormality that causes ALD. The first symptoms of the disease typically appear during childhood, and Julie knew early treatment is crucial. Immediately after Nicholas’ birth, Julie and her husband Dave sought out specialists and began a yearly testing regimen to search for any signs of the disease developing.
Two years ago, Julie’s fears came true: Doctors found a lesion caused by ALD spreading in Nicholas’ brain. They opted for an umbilical cord blood transplant to halt it.
In August 2016, the Purschkes moved to Minnesota from Missouri so that Nicholas could receive a blood stem cell transplant at University of Minnesota Masonic Children’s Hospital.
An umbilical cord blood transplant is one type of blood stem cell transplantation, which is the current standard treatment for boys with ALD who have developed brain disease. To prepare for the transplant, doctors use heavy doses of chemotherapy to wipe out a patient’s immune system, which reduces the risk of transplant rejection. Then, doctors implant a donor’s healthy stem cells in the patient. These stem cells provide the patient with a non-defective version of the ALD protein, which spreads throughout the body and halts progressive brain damage. The Purschkes used stem cells from an unrelated, anonymous umbilical cord blood donor.
“A blood stem cell transplant is the ultimate ‘control-alt-delete’ on the body’s blood and immune system,” said Pediatric Blood and Marrow Transplant Physician Weston Miller, MD, who specializes in treating ALD patients. “The transplant resets the body.”
For a month, Nicholas was confined to his hospital room while his immune system recovered from the chemo. That’s not easy for a kid who loves staying active and going outside. He said he looked forward to the times a physical therapist would come in and play sports with him.
“I really just wanted to see my friends again,” he said. “I wanted to play basketball and soccer and go running.”
After the transplant, Nicholas and his family moved to the Ronald McDonald House, located near University of Minnesota Masonic Children’s Hospital. Eventually, the family returned to Missouri, where Nicholas was able to get outside but still had to wear a protective mask. As Nicholas continued to heal and grow stronger, he began running again and even playing soccer.
Thanks to his parents’ vigilance and the care he received, Nicholas is now an active, happy 12-year-old. He plans to participate in his first triathlon this September and hopes to one day complete an Iron Man competition.
Because Nicholas received early and regular testing, doctors found the brain lesion before he began showing any outward signs or symptoms related to ALD. His umbilical cord blood transplant stopped the spread of the disease in its tracks.
Often, ALD is caught much later—after symptoms have already begun to show—when it can lead to death or permanent disability. Fortunately for Nicholas, neuropsychology exams found he only had a slightly diminished processing speed, which Julie said is not noticeable.
“Nicholas is doing fantastically well. He’s doing as well as we hoped he would,” said Miller, who helped care for Nicholas.
Nicholas will need to be tested for years to come so that the disease does not return undetected, but his story is a testament to the power of education and awareness of the disease—and the importance of newborn screening.
Both Julie and Miller are adamant that mandatory newborn screening could provide far better outcomes for ALD patients. If families know early on that their child carries the disease, they can begin regular testing.
“Nicholas’ case doesn’t have to be the exception,” Miller said. “If we screen early, then the odds of a positive outcome are much higher.”
Nicholas and his family returned to Minneapolis this summer to mark the one-year anniversary of his transplant and receive his annual checkup. Though Nicholas has made great progress, it wasn’t until this spring, Julie said, that she and Dave finally felt their son was back to his old self.
“We were watching Nicholas play soccer and at one point, he just took off down the field — running full throttle,” Julie said. “We just looked at each other and knew. We said, ‘He’s back. It took a while, but he’s really back.’”