Paul and Erich Lauffs: Tyrosinemia
At first glance, Paul and
Erich Lauffs, ages 10 and 6, of San Diego, CA, seem like typical boys.
They run, play, climb trees, fight with each other, and do all the other
things boys do. But they are far from typical. Both children were born
with hereditary tyrosinemia, a genetic inborn error of metabolism
associated with severe, and frequently fatal, liver disease in infancy.
Their mother, Colleen, calls them "miracle children," because their
survival is indeed a miracle.
The family's long ordeal began in July, 1986, when Paul was born. He was slightly jaundiced, but this did not concern his mother so much as his general mood.
"Paul was always cranky and irritable," she recalled. "I was a first-time mother and didn't know a lot about babies. But I knew that something must be terribly wrong with this child for him to be so miserable."
In addition to Paul's general crankiness were many disturbing physical symptoms. His stools were occasionally bloody, and tests showed his blood wasn't clotting properly. To make matters worse, he had frequent bouts of projectile vomiting. Paul's parents, Hubert and Colleen, took the baby to numerous specialists in California and around the country. Numerous tests were done, but nobody was able to determine what the problem was.
When Paul was three months old, the family went to Johns Hopkins University Medical Center. "Finally, after two more months of tests and examinations, a consulting pediatrician suggested that it might be tyrosinemia, a rare liver disease that affects large numbers of French Canadians and northern Europeans. It is only diagnosed in Quebec and Holland," Colleen said. "Dr. Dave Valley ordered the tests, and they came back positive. Even though this was not good news, at least we now knew what was wrong with Paul."
The family returned home, and Paul was placed on a special non-protein formula, which he tolerated well. For two years, she fed Paul every two hours, around the clock, and he thrived. "For awhile he looked like a little epitome of health," she said, "but then things started to go downhill again."
Paul's name was placed on the transplant list, and in March, 1988, he received a new liver. Unfortunately, it was not a match for his own blood type. "The next year was like a roller coaster," Colleen said. "Paul continued to get sick. He suffered from raging fevers. Finally doctors operated on him to place stents, or drains, in his bile ducts. Since then, he has done extremely well."
Despite all the anguish they suffered over Paul's illness, the Lauffs wanted to have more children. Counselors told them there was a one in four risk of passing the disease to other offspring, and that amniocentesis, a procedure in which a mother's amniotic fluid is drawn with a needle and tested for potential health problems, could tell them if their unborn child was affected. They decided to go ahead, and Colleen had amniocentesis. When the results of tests were negative for tyrosinemia, the ecstatic family celebrated.
Erich was born in December, 1989, and he seemed to be a perfectly healthy child. "But when he was about three weeks old, I began to feel that something wasn't right," Colleen said. "Something about his eyes reminded me of Paul's eyes. There was a similarity to the skin at the inner corner of the eyes. Maybe it was intuition. Even though the amniocentesis had been negative, I decided to have another test done, for my own peace of mind."
When the test came back positive, the Lauffs' pain was almost unbearable. "I cried, I screamed, I yelled," Colleen recalled. "I just couldn't believe it. We repeated the test twice more--and it was positive both times. It was unbelievable."
Apparently, the amniocentesis had not detected certain substances in the amniotic fluid that would indicate tyrosenimia. "We were told the levels had been too low to detect," said Colleen.
As Erich grew older, he had many of the same health problems as his brother--as well as a few new ones. He went on the same special formula with the same feeding regimen, and did fairly well. When the manufacturer discontinued the formula, Colleen called hospitals and health care facililties all over the world, to ask if she could purchase existing stocks of the formula. Before too long, she had a large supply stockpiled in her house.
Unfortunately, Erich's health deteriorated, just as his brother's did. By the time he was two years old, he was so sick that his name was placed on the transplant list. "His neurological system was seriously affected, a common symptom of this disease, and he had terrible pains in his legs and all over his body," Colleen said.
Erich's condition became so serious that doctors admitted him to UCLA Medical Center to wait for a liver. On April 11, 1992, Colleen's birthday, he received his first liver transplant. Unfortunately, problems arose with the hepatic artery, making the liver unusable. A few days later, he received a second liver, and suffered further complications. Fortunately, his third transplant was a success. "After 113 days in intensive care and three liver transplants, Erich finally got to go home," said Colleen. "We are so grateful to Dr. Busuttil, his surgeon. He says Erich is a real miracle. Both my boys are miracles. "
Today, Erich and Paul are healthy and active. They play baseball and soccer, swim, and do other things boys do. "Both children know they have a rare disease, and that they are special. Their belief in God and the will to live is why they have survived and beat the odds," said Colleen. "Without the benefit of the gift of life from transplant donors our children would not be with us today."
At first glance, Paul and
Erich Lauffs, ages 10 and 6, of San Diego, CA, seem like typical boys.
They run, play, climb trees, fight with each other, and do all the other
things boys do. But they are far from typical. Both children were born
with hereditary tyrosinemia, a genetic inborn error of metabolism
associated with severe, and frequently fatal, liver disease in infancy.
Their mother, Colleen, calls them "miracle children," because their
survival is indeed a miracle.The family's long ordeal began in July, 1986, when Paul was born. He was slightly jaundiced, but this did not concern his mother so much as his general mood.
"Paul was always cranky and irritable," she recalled. "I was a first-time mother and didn't know a lot about babies. But I knew that something must be terribly wrong with this child for him to be so miserable."
In addition to Paul's general crankiness were many disturbing physical symptoms. His stools were occasionally bloody, and tests showed his blood wasn't clotting properly. To make matters worse, he had frequent bouts of projectile vomiting. Paul's parents, Hubert and Colleen, took the baby to numerous specialists in California and around the country. Numerous tests were done, but nobody was able to determine what the problem was.
When Paul was three months old, the family went to Johns Hopkins University Medical Center. "Finally, after two more months of tests and examinations, a consulting pediatrician suggested that it might be tyrosinemia, a rare liver disease that affects large numbers of French Canadians and northern Europeans. It is only diagnosed in Quebec and Holland," Colleen said. "Dr. Dave Valley ordered the tests, and they came back positive. Even though this was not good news, at least we now knew what was wrong with Paul."
The family returned home, and Paul was placed on a special non-protein formula, which he tolerated well. For two years, she fed Paul every two hours, around the clock, and he thrived. "For awhile he looked like a little epitome of health," she said, "but then things started to go downhill again."
Paul's name was placed on the transplant list, and in March, 1988, he received a new liver. Unfortunately, it was not a match for his own blood type. "The next year was like a roller coaster," Colleen said. "Paul continued to get sick. He suffered from raging fevers. Finally doctors operated on him to place stents, or drains, in his bile ducts. Since then, he has done extremely well."
Despite all the anguish they suffered over Paul's illness, the Lauffs wanted to have more children. Counselors told them there was a one in four risk of passing the disease to other offspring, and that amniocentesis, a procedure in which a mother's amniotic fluid is drawn with a needle and tested for potential health problems, could tell them if their unborn child was affected. They decided to go ahead, and Colleen had amniocentesis. When the results of tests were negative for tyrosinemia, the ecstatic family celebrated.
Erich was born in December, 1989, and he seemed to be a perfectly healthy child. "But when he was about three weeks old, I began to feel that something wasn't right," Colleen said. "Something about his eyes reminded me of Paul's eyes. There was a similarity to the skin at the inner corner of the eyes. Maybe it was intuition. Even though the amniocentesis had been negative, I decided to have another test done, for my own peace of mind."
When the test came back positive, the Lauffs' pain was almost unbearable. "I cried, I screamed, I yelled," Colleen recalled. "I just couldn't believe it. We repeated the test twice more--and it was positive both times. It was unbelievable."
Apparently, the amniocentesis had not detected certain substances in the amniotic fluid that would indicate tyrosenimia. "We were told the levels had been too low to detect," said Colleen.
As Erich grew older, he had many of the same health problems as his brother--as well as a few new ones. He went on the same special formula with the same feeding regimen, and did fairly well. When the manufacturer discontinued the formula, Colleen called hospitals and health care facililties all over the world, to ask if she could purchase existing stocks of the formula. Before too long, she had a large supply stockpiled in her house.
Unfortunately, Erich's health deteriorated, just as his brother's did. By the time he was two years old, he was so sick that his name was placed on the transplant list. "His neurological system was seriously affected, a common symptom of this disease, and he had terrible pains in his legs and all over his body," Colleen said.
Erich's condition became so serious that doctors admitted him to UCLA Medical Center to wait for a liver. On April 11, 1992, Colleen's birthday, he received his first liver transplant. Unfortunately, problems arose with the hepatic artery, making the liver unusable. A few days later, he received a second liver, and suffered further complications. Fortunately, his third transplant was a success. "After 113 days in intensive care and three liver transplants, Erich finally got to go home," said Colleen. "We are so grateful to Dr. Busuttil, his surgeon. He says Erich is a real miracle. Both my boys are miracles. "
Today, Erich and Paul are healthy and active. They play baseball and soccer, swim, and do other things boys do. "Both children know they have a rare disease, and that they are special. Their belief in God and the will to live is why they have survived and beat the odds," said Colleen. "Without the benefit of the gift of life from transplant donors our children would not be with us today."
