The Norman Burkholder family, from near Kutztown, Pennsylvania, recently had a very stressful experience. It all began when the Burkholders, in consultation with a local homeopathic doctor, gave their 8 year old daughter, Kathryn, large doses of vitamin A in a sincere effort to boost her immune system. Her formula also contained vitamin A. Norman and Mabel didn't realize that giving her mega-doses of the vitamin for several years would ultimately destroy Kathryn's liver.

When the cause of liver failure was determined, the vitamin was stopped. They hoped Kathryn's liver would heal. . . . It didn't. On the way to the Clinic for Special Children at Strasburg, PA on Jan. 2, 1997, Kathryn brought up blood - a sign of end-stage liver failure. She was admitted to the Lancaster General Hospital under the care of Dr. Holmes Morton. The family had to make a decision - she would die without a liver transplant. They decided to try the transplant.

Metabolic control was maintained at the Lancaster hospital until she was ready for the transplant. It took place at the Children's Hospital in Philadelphia on Feb. 12. Kathryn was the first person with MSUD in America and the second MSUD in the world to have a liver transplant. It was successful according to Dr. Paige Kaplan, a geneticist at Children's Hospital.

Kathryn came home from the hospital on March 21. By the middle of April she had grown an inch and gained 5 pounds. She is growing strong and robust. Why wouldn't she? SHE IS NOW EATING MEAT AND CHEESE SANDWICHES AND TOLERATING A NORMAL DIET. The new liver evidently provides some enzyme activity. Whether the cure is complete remains to be seen. After a 12 hour fast, Kathryn's blood test showed a small amount of alloisoleucine (only seen in MSUD). However, she seems to be tolerating a normal diet and is the envy of her younger sister with MSUD, Ella Mae, 4.

Before we even think of a transplant as a solution to MSUD, there is much to consider. Most patients with MSUD have healthy livers. The operation is risky and astronomical in cost. Transplant patients need to be on very costly anti-rejection medication the rest of their lives. Kathryn's medications are more expensive than the MSUD formula. Relieved of one set of problems, she faces others.

Doctors have learned much from Kathryn's experience. The liver may even prove to be a target organ for gene transplant, although there are still many difficulties to overcome. We parents can also learn from this. A nutritionist is a critical part in the care of MSUD and needs to know exactly what individuals with MSUD are consuming in their daily diet.

The Burkholder family does not carry medical insurance for religious reasons. Neighbors and friends held a charity auction and raised $27,635 toward paying the $500,000 bill. Local churches also gave generously, but a huge bill remains. If anyone wishes to help, contact the Burkholders or send donations to the Kathryn Burkholder Liver Transplant Fund, 224 Dotterer Rd., Lenhartsville, PA 19534-9584

Melvin Carruth

This letter is a tribute to my brother Melvin Carruth! We believe he is one of the oldest living African Americans with Maple Syrup Urine Disease.

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