A Life Made Normal

A Life Made Normal

Fairfax boy recovers from successful liver transplant.

For children with maple syrup urine disease (MSUD), a liver transplant is not a common course of treatment. But for Fairfax 4-year-old Jakob Jasin, it was.

"The liver transplant is only one option. It was the right option for us, but it's not for everyone," said Susan Jasin, Jakob's mother. "I wanted him to grow up to be self-sufficient, and this was this only way."

MSUD is a metabolic disorder that causes amino acids from proteins to accumulate in the body, which can have a toxic effect and lead to brain swelling, neurological damage and death.

"Between the ages of 4 and 8, brain swelling is really bad," Susan Jasin said. "His body was on a clock. The platelets could swell at any time, and the reaction would be devastating. But I had to weigh the options about what was best for his life.”

On May 30, at 12:30 a.m., the Jasins got the call that they had been waiting for. A liver was waiting for Jakob at Children’s Hospital in Pittsburgh, Pa. The family took the next flight available and arrived at 5:30 a.m. Jakob had the transplant that day.

ONE OF Jakob’s doctors, George V. Mazariegos, said that Jakob represents only the sixth successful liver transplant in the world for a patient with MSUD.

“Without this transplant, Jakob would have followed a strict diet for the rest of his life, and even then, he was still at risk for going into metabolic crisis and suffering irreparable brain damage. Our results show that liver transplantation may be a cure for this disease, and Jakob can now be a normal 4-year-old.”

Up to now, Jakob's life has been anything but normal. Until the transplant, he had to adhere to a strict diet and drink a medical formula that gave him the nutrients he needed to grow, since he couldn’t eat protein-rich foods.

“Dietary Therapy is the common course of treatment for MSUD, but the quality of life is not good. He needed a liver transplant,” Susan Jasin said.

The liver transplant was not something that happened overnight. The Jasins worked for 2 1/2 years to get their son the transplant.

“When we found out Jakob had MSUD, I researched all the treatments. I read an article in Life magazine on liver transplants and gene repair therapy,” Susan Jasin said. “There hasn’t been enough medical advancement for gene repair therapy to work yet, but the liver transplant will help him now.”

Susan Jasin visited several hospitals, asking if they would work with her family on getting Jakob a liver transplant.

“I went on my quest. Johns Hopkins said no because it was an ethical reason. It is a quality-of-life issue,” Susan Jasin said. “His liver wasn’t damaged, but his brain will be."

Susan Jasin finally met Dr. George Mazariegos, the director of pediatric transplantation at Children’s.

“He’s the guru of MSUD,” Susan Jasin said. “Even though Dr. Mazariegos agreed to do the transplant, I had to fight the insurance company.”

Friends from Susan Jasin’s Bunko group put on a fund-raiser for Jakob. They had a yard sale and car wash to raise money for the transplant.

Georgia Clark, one of Susan’s friends and a bunko member, said that the yard sale and car wash had “totally evolved into this humongous thing.

“People weren’t buying anything, they were just coming and giving money because they had gone through similar experiences,” Clark said. “It was very emotional for Susan. Everyone in the community went out of their way to support them.”

Businesses, churches and other groups such as the Veterans of Foreign Wars and Don Pablo’s restaurant made contributions.

“You’d think everyone is already involved in their own lives, but the support was really amazing,” Clark said. “I hope they realize what a great thing they did and helped out this family.”

Clark said that Susan Jasin never stopped working at getting the transplant, even when all seemed lost.

“I think for her, it’s never been an issue. That’s how important he is to her,” Clark said. “She’s just trying her best. Parenting is so much more difficult because everything must be watched.”

ABOUT A YEAR AGO, the Jasins had a doctor, a hospital, and funds, but more work still needed to be done.

“It took eight months for Pittsburgh to develop the MSUD protocol," Susan Jasin said. "Because if the liver fails, then Jakob’s an MSUD patient again, and he will go into automatic metabolic crisis. They had drugs on hand ahead of time in case that happened. They also trained the nurses about what to look for in case the liver failed. They revamped the lab so that test results would come back quickly, so we could see if his levels were wrong. The yearlong wait was them setting up protocol.”

No other hospital in the country has set up a protocol with these protective guidelines and safety precautions.

“We set up this protocol knowing there was a strong possibility the transplant would go flawlessly and Jakob would have a great outcome,” Mazariegos said.

Jakob is now recovering from the transplant and will be home in a few weeks.

“He can eat and drink anything," Susan Jasin said. "He doesn’t have to finish medical formula, he doesn’t have to eat when he doesn’t want to. He can do more things like kids his age do.”