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Liver Transplant Fundraiser Gains Momentum

As the helicopter flew over the Florida Keys, Susan Jasin wasn't paying attention to the emerald waters and coral reefs below. Her newborn son was being med-evac’d to a hospital in Miami for an undiagnosed emergency, which turned out to be a rare liver condition known as "maple syrup urine disease (MSUD)."

"I went with him while my husband and mother drove. Before we left [the Lower Key Health Center], the pediatrician said, 'I don't know what's wrong with him, but he's very sick,'" Jasin, who now lives in Burke, said.

The disease, MSUD, occurs when the liver is not producing a certain enzyme, and it can lead to mental retardation, physical disabilities and death, according to MSUD Family Support Group information. It occurs in one out of every 225,000 births, making it very rare, according to Sandy Bulcher of the 300-member MSUD Family Support group.

"It's a very rare disease," Bulcher said.

After researching the disease, talking to experts and exploring every option, Jasin concluded that a childhood liver transplant would save her son. At age 3, Jasin's skull can still handle a little brain swelling, but at 4, the skull solidifies more and will not be flexible. Swelling could be fatal.

"I've done a lot of research on transplants," Jasin said. "In my mind, it's essential for us to do this soon. The mental deterioration will stop if he has a liver that will break down the enzyme."

Though it's a new treatment for MSUD, Dr. George V. Mazariegos, liver and intestine transplant surgeon at the Children's Hospital of Pittsburgh, believes the liver transplant gives Jakob a possibility for a normal life.

"It is a new approach to this disease. We know the successful transplant can cure the disease, that's been reported and documented. The children in good clinical condition should do very well," Mazariegos said.

Jasin has been in contact with Dr. Jorge Reyes at Pittsburgh, who works with Mazariegos. Mazariegos has reviewed the case and is familiar with Jasin's case.

"A transplant will cure him and hopefully improve his quality of life," Mazariegos said.

According to Bulcher, the liver transplant is a new treatment and not an option for everyone with MSUD. Bulcher's son is 13 now and has had the disease since he was days old. His treatment relies on a protein diet and special drink, which is the traditional way of treating the disease. It doesn't cure him though.

"He's doing great," Bulcher said. "It's much easier now than when he was younger. They never lose that risk of a life-threatening episode."

That's one part of the traditional treatment that steers Jasin toward the transplant.

"Some people believe the diet is the way to go, she's [Bulcher] done really well with her son," Jasin said, but the 50-percent chance of failure rate for the diet doesn't sit well with her.

"I don't care what it takes, I want to give him [Jakob] a chance at a normal life," she said.

Mazariegos knows about the dietary treatment as well.

"Despite this, the neurological problems can continue," he said.

IN KEY WEST, Jasin’s husband was in the Navy, and the military doctors referred her to Johns Hopkins Hospital in Baltimore, who do not do child organ transplants.

"They turned me down," she said.

Jasin has brought up the issue to specialists at Inova Fairfax also, but with no success. Kathleen Thomas, Inova Fairfax spokesperson, had heard of MSUD but noted that transplantation among children is not an area they specialize in.

"Only certain pediatric transplants," Thomas said.

Johns Hopkins needed more research to be done on the issue, so Jasin bounced around from doctor to doctor until she found a Pennsylvania connection via an article in Life magazine. One girl was cured of the disease with a transplant. Gene therapy is another area they are looking at for a cure, according to Bulcher.

The disease is a rare inherited metabolic disorder which is also found in the Mennonite population, which has a large community in Pennsylvania.

That led Jasin to Dr. Jorge Reyes and Pittsburgh Children's Hospital and a price tag of $300,000, which her husband’s insurance, Blue Cross-Blue Shield for Government Workers, wouldn't cover at first until her third appeal. Approval came Monday, July 21.

"One more fight, one more battle done," Jasin said.

She's put Jakob on the waiting list for a transplant and established an account with the National Transplant Assistance Fund. Although the operation is covered, there are other costs that aren't covered, including their stay in hotels during the operation and recovery period.

Jasin is thankful for the community support and her Bunko group, 12 local women who know all about Jakob and MSUD.

Georgia Clark started the Bunko group and is behind the effort. "We're there for her emotionally. We'll do whatever we can do to help," Clark said.

BUNKO is a dice game that's sweeping neighborhood women’s groups. Similar to a poker game for the men, it's a chance for the women to get together on a regular basis, discuss issues and enjoy camaraderie. Through the months, all the Springfield, Burke and Fairfax Station women in this particular group have gotten to know about Jakob and MSUD.

"We get support," Jasin said. "We tell our problems and what's going on. We help each other out."

"Every time we get together, we want to know what's going on," Clark added.

On Aug. 9, Jasin is hosting an activity at the Clark home as a fund-raiser for Jakob. It will be a combination yard sale, car wash, crafts and bake sale. Boy Scout Troop 688 is helping out. People will have an opportunity to make contributions as well.

In the meantime, Jasin has the future in mind for Jakob.

"I want him to grow up," she said. "I want him to go to college. To watch him deteriorate would kill me."