NEWMANSTOWN, Pa. — Fourth-grader Shane Musser likes to be on the move, says his mom, Rose Musser.
“He’s very determined,” she said. “He falls down a lot, but keeps trying and trying. He doesn’t give up.”
Rose is talking about Shane’s persistent desire to walk better, bicycle, swim and do many other activities. He attends a local elementary school with the help of a mobility chair and a personal caregiver, but copes with some brain damage caused by a rare genetic condition. The condition, called Crigler-Najjar Syndrome, or CNS, affected him as a baby up until 4 years old when he had liver transplant surgery at the Children’s Hospital of Pittsburgh.
It was at the Clinic for Special Children in Strasburg in his first weeks of life that Shane was first diagnosed with CNS. Having the genetic mutation means that his liver did not produce any of the enzyme responsible for breaking down bilirubin in the blood.
After Shane was born, his parents said, he became jaundiced due to high bilirubin levels — not an uncommon occurence for a newborn. The local hospital in Ephrata put him under bright phototherapy lights for five days, which brought his bilirubin levels to normal.
However, a few days later, his bilirubin was very high again. Realizing there might be a deeper issue, the hospital suggested the Mussers have Shane tested at the Clinic for Special Children, and they did. With a blood draw, the clinic was able to test for the syndrome, caused by a genetic mutation of the UGT1A1 gene. The problematic gene meant that Shane’s liver was not breaking down bilirubin into the water-soluble state that renders it harmless. Too-high bilirubin circulating in the blood affects the brain and nerves. In Shane’s case, the damage caused primarily physical disabilities.
None of the Mussers’ other three children have CNS. Shane’s two older sisters, Andrea, 18, and Kara, 16, dote on him and play lots of games with him. His older brother, Devin, 13, loves to play with Shane, wrestling, tussling, playing ball and other outdoor activities.
The treatment for CNS is 10-12 hours of light therapy per day under a 2-foot-by-4-foot specially designed light. When the skin is exposed to the therapeutic light, the bilirubin breaks down and is passed naturally. A Pennsylvania dairy farmer in Mifflinburg, who has two children of his own affected by CNS, built Shane the special phototherapy light for his crib and bed.
The light treatment helped Shane, but had secondary effects like making it hard to sleep. As a result, Shane and his family members were usually very tired from being up at night. They adjusted their lifestyle to a new routine, staying home much of the time to accommodate the need for the light therapy, while trying to keep as active as a family as they could.
“It was stressful at first,” Rose said. But, she added, “Our faith in God, and knowing that He was walking beside us in this journey was comforting. ... And, having the clinic know about how to handle the disease was comforting, too.
“We learned a lot about ourselves,” Wes said. “And, we could call (the clinic) anytime, day or night.”
Dr. Rider made home visits when they needed him at a time when Shane was sick. He would meet them at the hospital if Shane was admitted.
“It stood out that he cared enough to come out even on a holiday,” Wes said.
There is a cure for CNS — a liver transplant. The new liver produces the missing enzyme and the bilirubin is no longer a problem.
Fortunately, Shane was able to get a new liver and he no longer has CNS. But after a transplant, patients must take drugs to keep the body from rejecting the new organ. And, he still needs help with eating and personal care.
Early on, the clinic had recommended that the Mussers do a lot of early intervention to help Shane improve his motor and brain functions. So, since he was an infant, Shane has had physical, occupational, swimming and speech therapy, which have helped him a lot.
Even though Shane is allergic to horses, Rose had read about the results from horse therapy at places like Triangle Therapy Riding. The Mussers feel grateful to Laura Rutledge, the therapist there, because Shane had a breakthrough experience from her sessions with him. Before horseback riding, he wasn’t walking much, or talking, even at 5-1/2 years old. The clinic’s doctors told the Mussers that the motions of riding on a horse stimulated a part of the brain to think Shane was walking. Since most children start speaking only after they start walking, that movement is critical in learning speech. And it was only after riding the horse that Shane began to speak.
“Our biggest prayer was that he could talk — especially because we knew he wanted so badly to talk,” Wes said. “Now, he’s verbal enough. He gets his point across!”
And, after the transplant, Shane had lots more energy, said the couple. Their stress level also went down because they didn’t have to watch and worry constantly about bilirubin levels causing damage.
“We lived under mental stress constantly up to the transplant,” Rose said. “We didn’t realize how stressed we had been before the transplant.”
After the transplant, “he slept better, which made everything better,” said Wes.
“Academically, Shane is fine,” Rose said. “Physically, we can’t know.”
As for getting a job someday, Wes said it would probably be in technology, because Shane can use technology easily and loves to play computer games.
“It’s something he can do,” Wes said. “He loves that stuff. He plays Wii, Mario.”
“He also loves to read,” Rose said. “Lots of books about sports, history and mysteries.”
These days the family is very active, participating in church, family activities and vacations. They find joy in life, in church and in children. Shane gets around with either a posterior walker, a wheelchair or mobile chair.
“He’s a very happy boy,” said Wes.
“He’s not easily flustered,” Rose added. He smiles big and his eyes sparkle easily, she said, and that’s what people notice first about him.
For those interested in knowing more about the Clinic for Special Children or attending their auction, go to www.ClinicAuctions.org or call 717-687-9407. The auction is open to the public and will be held next Saturday, June 15, at the Leola Produce Auction, 135 Brethren Church Rd., Leola, PA. There will be a 7 a.m. breakfast followed by the auction at 8:30 a.m. and the quilt sale after 11 a.m. For auction questions, contact Mark Martin at 717-733-3070.