When Jeffrey Wachter of Beech Creek was 3 1/2, he was the size of an 18-month-old. His kidneys were badly damaged from cystinosis.
“Cystinosis is a very rare enzyme defect where the body is unable to get rid of one particular small protein which then builds up in the cells in the body and eventually causes kidney failure,” said Dianne Muchant, M.D., pediatric nephrologist. “This disease can cause kidney failure and can require either dialysis or a kidney transplant in the child’s early years.”
When Jeffrey was a year old, his mother, Michelle, noticed he was not growing or doing a lot of things that he was supposed to be doing. He was excessively thirsty and weighed only 20 pounds
Michelle took him to the local doctor who tested him for diabetes.
“The doctor determined he was hyperglycemic and said it was because I didn’t feed him the right breakfast,” she said.
At two-year and three-year check ups, Jeffrey remained the same size. Doctors did more tests and again blamed Michelle for not feeding him the right foods. They gave her a list of foods to feed him that were high in calories.
“After a few months of that, I decided that I can’t be that bad of a mom, so I took him to another pediatrician,” Michelle said. “He said he didn’t know what was wrong, but said he wanted to send us to Geisinger to figure things out.”
After seeing doctors in several different specialties, the Wachters received a call from a pediatric nephrologist at Janet Weis Children’s Hospital, who said Jeffrey may have cystinosis.
“I thought he had some cysts on his kidneys. We’ll get them removed and everything will be better,” Michelle said.
Doctors explained that the condition causes the body to accumulate the amino acid cystine within cells. The excessive cystine forms into crystals that build up and damage cells and tissues, especially in the kidneys and eyes.
“We had a lot of people offer to donate,” Michelle said. “My younger sister, Amy, who is just this tiny little thing and weighs about 100 pounds, insisted on being the donor.”
The doctors agreed to test Amy, and she was as close a match as if she was
Jeffrey’s own mom.
“She didn’t have kids at the time. She wasn’t married,” Michelle said. “She said, ‘Just let me do it.’ I was the next logical person in line but I needed to be healthy to help him recover. Amy was determined. I think if anyone else would have tried to step in, she would have wrestled them to the ground.”
“We can get kidneys for patients two ways, either through a living donor or through a deceased donor,” Dr. Muchant said. “If we can do a living donor, generally the outcome is a little better than if we use a deceased donor. Jeffrey was able to get a kidney from his aunt.”
On Dec. 11, 2003, Jeffrey received one of Amy’s kidneys. After a brief 10-day stay in the hospital, Jeffrey was home.
Following the transplant, Jeffrey began to grow, playing and participating in normal activity. Before the transplant Jeffrey walked with a severe limp because of pain in his joints and sometimes needed assistance to get up the steps. After the surgery that soon changed.
“I can remember one day he said he had to go to the bathroom and I said hold on a minute while I finished doing something,” Michelle said. “A few minutes later, I said are you ready to go the bathroom and he said, ‘I was already up and back.’ It was mind boggling that he was up and back in the kitchen and he didn’t need my help.”
Jeffrey is doing very well and enjoys playing some tunes on his guitar.
“I remember praying to God and saying, ‘Please, I don’t want this kidney transplant. Can’t you do something?’” said his mother, Michelle.
Because a kidney transplant sounded so horrible, Michelle prayed for what she thought was the best solution to the problem. She found, however, that her prayers were misguided.
“It seemed so scary and so above and beyond what you would ever have to deal with,” she said. “Afterward, I said,” ‘Oh my gosh, I wish we would have done this sooner.’ I was praying for the wrong thing.”
When Jeffrey was diagnosed at age three, Michelle was told there was a 25 percent chance of Jeffrey’s siblings to have the disease as well. That was when Michelle told them she was pregnant.
“Because cystinosis is a genetic disease, when Jeffrey’s sister, Alicia, was born there was a possibility that she had the disease as well,” said Barbara Leauber, Physician Assistant in Pediatric Nephrology. “Alicia was tested at an earlier age and started treatments at about age 2.”
There are less than 1,000 children in the U.S. with cystinosis. Alicia for several years maintained 100 percent kidney function. However; around 6 years of age, she got pneumonia.
“We hoped to get her farther in life before a transplant but she got pneumonia and every time she got sick, her kidney function kept going lower and lower and lower,” Michelle said.
In one year’s time she went from 100 percent kidney function to needing a transplant. Testing began for Michelle be the donor and a surgery date was scheduled for Jan. 17. However, two days after Christmas they received a call that another donor became available.
“At that point I knew I was a match, but they can always tell you no if something comes back in one of the tests. So I called all the doctors and asked what should I do,” Michelle said. “They all said anything could happen between now and our scheduled surgery. It’s a really good match so take it.”
Alicia, who just turned nine years old in November, had her transplant in December 2008.
“Because there is the possibility that Jeffrey and Alicia will need kidneys in the future, if their current transplants fail, we wanted to preserve mom as a donor in case she needed to give her kidney at another time,” Dr. Muchant said.
Overall Alicia did very well post surgery although she experienced complications that required her to stay in the PICU a little longer than expected.
“When she received her transplant she weighed 40 pounds,” Michelle said. “That was only three years ago and she weighs 108 pounds now. It’s amazing to see her.”
Before the transplant Alicia would sleep 18 to 20 hours a day, but that changed significantly following the transplant, Michelle said.
“Alicia goes to school all day and she does cheerleading, dance, anything she can get her hands into,” Michelle said. “We didn’t even pull out of the parking lot during the last day of school last year and she was crying, ‘I’m going to miss my friends. I’m going to be so bored.’ I think she is trying to make up for lost time, because she slept the first eight years of her life. She is just always into something.”
There have been tremendous advances in kidney transplants over the past 20 years and particularly in rejection medications. Currently a living donor transplant will last an average of 15 years or more and a deceased donor transplant can last as much as 12 years or more, according to Dr. Muchant.
“The longest kidney recipient is 40 years out from their transplant,” she added. “Every year we get better and better at what it is we are doing and get smarter in our medications. I think Alicia and Jeffrey are both good examples of excellent outcomes.”
Michelle could not agree more and thanks Janet Weis Children’s Hospital for her her children’s recovery.
“It is just amazing to see the difference in both of them,” she said. “We have been going there for almost 13 years now and it’s like a home away from home.
“We love them all. They are so good to the kids there. Alicia loves to go so much, that she gets mad if Jeffrey has an appointment and she doesn’t,” she added. “You walk in and everyone knows you.”
The Wachters have developed a strong relationship with Janet Weis Children’s Hopsital’s nephrology department.
“Barbara Leauber is my go to person,” Michelle said. “I feel like I bother her all the time by calling down there to ask questions. She is always happy to help and never seems to mind my dozens of phone calls.”
Note: Michelle and Jim Wachter have a third child J.C., who does not have cystinosis.