BRATTLEBORO — Nancy Systo grew up next door to Tom Smith in Guilford.
Both homes had lots of children. Both Nancy and Tom are graduates of Brattleboro Union High School. Several years later, when Nancy went to college in the Burlington area, she reconnected with Tom, by then an engineer with IBM.
They fell in love and, in 1986, they married. The pair has six children, and they all live on a small farm in Charlotte, where they home-school their kids.
When Mary Ellen Copeland, Tom's mother, received a call from Nancy about one of her grandsons, she could not possibly have guessed that three of her grandchildren would become seriously ill with a rare hereditary disease, or that four years later, the Smith family would participate in a record-breaking chain of kidney transplants in Texas.
In that first phone call, Copeland recalls, Nancy Smith reported that their son, Samuel, then 13, had been sitting by the wood stove all day with cramps all over his body.
After a trip to the emergency room, the Smiths learned that their son was in kidney failure. When a kidney is functioning at only 20 percent capacity, the patient often begins dialysis. Samuel started right away.
“We were totally shocked,” Copeland says.
Very soon, the Smith family received more bad news. Sam and two of their other children were diagnosed with the same disease, called Familial Juvenile Nephronophthisis.
Nephronophthisis, which often results in renal failure around the age of 13, is a rare, genetically recessive disease. Both parents must be carriers. This means that the chances of having this disease are about one in 8.3 million.
“Although, in our case, we've been told it's possible that the national statistics might change just because of our family,” says Nancy Smith, with a wry laugh.
“Statistically, any children that Tom and I had would have a 25 percent chance of having the disease. As it turned out, in our family, 50 percent of our children had it - three children out of six,” Smith says.
“As my husband the engineer commented, 'We overachieved,'” she adds.
“This is such an unusual disease and a rare gene as well,” Copeland says.
“So few people in the entire United States have it, and what happens?” she adds. “Two people who lived next door to each other their entire lives happen to have it, and they happen to get married, and happen to have three children who have it.”
“What are the statistical chances of that happening?” Copeland asks, further pointing out that “neither side of the family has any evidence that we can find of kidney disease.”
Diary of a disease
The story gets more complicated from here, but one thing is clear - during all of what followed, Smith and her husband never lost their senses of humor.
“I started by filling a notebook full of all the information I could gather on the disease because three of my children have it,” Smith says. “Before I filled that notebook, I began calling it, 'The Smith Family Kidney Adventure.' From there, I filled many more notebooks as the years went by. It was just so unreal; we had to have a sense of humor about it.
“We are Christians. We knew that God hadn't lost control of the universe. He knew what He was doing, and we just had to trust, and walk through it, and see where it led. It wasn't easy, it wasn't fun, but we've all grown, and I think it's really going to shape who all of my children will become. Our daughter Grace is currently in college studying nursing.”
Although Familial Juvenile Nephronophthisis is a pediatric kidney disease, the Smiths' oldest daughter, Katie, made it all the way to 20 before she got sick. Their other daughter, Esther, was in need of a kidney by 2009, when she was 13.
Tom, Samuel's father, donated one of his kidneys in October 2007, but there were complications. Samuel had to go back to dialysis right away.
“It is very hard to do dialysis,” says Copeland. “It is five hours a day, three days a week. Samuel would get severe migraines; his blood pressure would get very high. He would barely recover during the three days' break, and then he would go back for another session of dialysis. We saw him often, but he was too sick to even be himself. He barely ate, and he became horribly thin.”
Copeland remembers the difficulty of scheduling the treatments.
“Every morning at 7 a.m., Samuel had to be at the hospital on dialysis days. He also spent quite a bit of time as an inpatient in the hospital, one time for over 2½ months. Almost half that time, he was in the Intensive Care Unit.
“Hannah, who was 17 at the time, did a lot of mothering, because her parents had their hands full. My son's family is really close. They always home-schooled, and that turned out to be a good idea, because I don't think they could have done all this otherwise.”
Meanwhile, Samuel's sisters were also becoming ill.
Katie received a donated kidney from a woman she didn't even know. Brattleboro resident Kelly Sweeney decided to give her kidney when she heard Katie's story from Copeland.
Esther received her new kidney from her grandmother's niece (her first cousin, once removed), Katherine Copeland-Blume, who flew in from California. Both became healthy and continued to recover from their illnesses.
Samuel did not. A new kidney could not be found.
The reasons for that had to do with Samuel's antibodies. He had become what is referred to as “highly sensitized.” When a patient has blood transfusions, he or she receives other people's proteins. When an immune system comes in contact with these foreign proteins, it develops antibodies to them, since the body views them as invaders.
“Samuel had a lot of transfusions,” Smith says. “He's young, and so his body had created plenty of antibodies, but mostly because he'd already received a kidney, he was highly sensitized. This combination made finding a compatible kidney that much more difficult.”
A second chance
While Samuel was waiting for a second transplant kidney, much was evolving in the field of kidney donation.
“The new thing that is happening in the kidney world is called 'paired exchange,'” Smith says. “Kidneys are one of the few organ donations you can give while you are still living. Most people are born with two kidneys, and if you have no other health issues, you can live a perfectly healthy, happy life without two kidneys.”
Under ordinary circumstances, if a kidney recipient finds a willing donor with a incompatible blood type, the recipient must undergo treatment before receiving the kidney. However, in a paired exchange, two recipient-donor pairs “swap” kidneys. That is, when the donor in each pair is a compatible match for each recipient in the other pair, each donor's kidney goes to the compatible recipient.
The Vermont Legislature will be designing legislation during its upcoming session to create a living donor registry, one of a very few so far in the nation. The Vermont Kidney Foundation is making that proposal.
“It's in its infant stages, but it's really exciting that our state will be one of the first to achieve a living donor registry,” says Mike Scollins, the coordinator of that effort.
This is an important breakthrough for people who need transplants.
“More and more transplant centers are doing these paired exchanges,” says Smith. “All across America, the National Kidney Registry works on finding matches for people who have incompatible donors. Most people can find someone in their circle of friends [and] family, or loved ones, can find a donor, but the chances of that one person being a match or being compatible with them doesn't always happen.
“It used to be that was the end of the story,” Smith continues. “You'd then have to wait until your name went to the top of the list for an organ donor to die and hope that the next available kidney was a match for you.”
That wait might take three to five years or more. Many people die every day waiting for the right kidney, and Samuel had become incompatible with 99.9 percent of the population of kidney donors.
“I think of it this way,” says Smith. “I was told by a surgeon in Texas that the world of kidney donation is like waiting for a train. If you miss the first train, there is always another train coming. If you miss the kidney because it isn't a match, for most people, there will always be another train.
“For Samuel, it was more like a comet,” Smith says. “If he didn't get this one, he might not see another one in his lifetime.”
Hil reaches out
At this point in the story, the first of several miracles takes place.
A man that the Smith family had never met, Garet Hil, had a daughter with the disease. He is the founder and director of the National Kidney Registry.
“The kidney world is pretty small,” Smith says with a laugh, “but I'm so grateful he took an interest in us.”
The Texas Transplant Institute in San Antonio provides the largest and most experienced living donor program in the country.
“It isn't a large hospital,” says Smith, “but they have a great team, and they are wonderful at what they do. They were setting up this chain of kidney paired donations, and wanted to make the record books as a way to raise awareness about paired exchanges, and to share information about the program. Because they are in this business, and because they know what it means to be as highly sensitized as Samuel is, we knew this was going to be a once in a lifetime opportunity.
“Lo and behold,” says Smith, her voice now cracking with emotion, “there was a match for Samuel.”
In order to participate in the program, the Smith family had to now find a person willing to donate a kidney so that Samuel arrived at the program with a donor for the pool of patients and donors.
As it turned out, Samuel's sister Hannah had been ready to donate for some time. She was simply waiting for a match to be found for her brother. When it was first recognized that Samuel would need a donor, Nancy wanted to donate hers, but it turned out that their daughter was a better candidate.
“This all happened very quickly, and the surgeries had been all set and complete to go,” says Smith. “They shuffled things around in order to fit Samuel and Hannah into the chain of paired donations.”
On very short notice, four members of the Smith family flew to Texas. Samuel was the only kidney recipient who wasn't already a patient and was invited into the chain. He was the youngest at age 17, and he was the patient who was the farthest from the hospital.
The historic surgeries, covered by all the major news organizations, took place from Nov. 11 through Nov. 13. “It took place over three days with five surgeons, 32 surgeries, 16 people donating, and 16 people receiving kidneys,” Smith says.
“Samuel gave an interview to CBS News,” Copeland notes.
The chain was started by one woman who decided she wanted to donate one of her kidneys. This type of donor is called a “non-directed altruistic donor,” meaning that she didn't have a loved one for whom she wanted to donate, but instead simply decided on her own to give a kidney to a person who needed one.
Because this chain was started by an altruistic donor, the cycle of donation from this original donor continues to this day. Because each person participating in a paired exchange has to provide both a donor and a patient, the circle comes up with one additional kidney to start the next cycle. The donor is called a “bridge donor.”
The chain that Samuel Smith participated in stopped at 32 surgeries.
The second round of donations from the original chain began again last week with seven more people receiving kidneys with seven more donors, for a total of 14 surgeries. Once again, there was one kidney left at the end of the cycle, whose donor is now the bridge donor to begin the third set of surgeries that begin in January. This round may involve as many as 10 more pairs.
“Talk about a gift that keeps on giving!” says Smith.
“This feels like such a big miracle,” she says. “Samuel could have waited a very long time with difficult consequences. It was mind boggling to think about the probability of his getting a kidney, and he was so very sick when the news came. When they discovered there was a match for him in Texas, the professionals all recognized this was his chance.
“He was so very fortunate,” Smith notes. “We all recognized that he simply couldn't have gone on much longer. He wasn't able to eat in between his dialysis. He was slowly starving to death.”
Since the surgery, both Samuel, who received a kidney, and Hannah, who gave a kidney, are recovering nicely.
Nothing is known about the donor from whom Samuel's kidney came or the recipient to whom Hannah's kidney was donated.
“The hospital is very careful about maintaining confidentiality for all concerned,” says Smith, “but we are hoping to be able to meet Samuel's donor one day so that we could thank them in person.
“Two more people are alive in the world today - Samuel, because he received a kidney, and another person because his sister donated one. And, of course, all told, 16 people have a chance because of this circle.”
The screening process for a kidney donation is stringent. Only 25 percent of those who would like to donate are able to make it through the screening process and go on to donate. Hospitals are clear that they don't want to put the patient or the donor at risk.
“This is an amazing story about amazing parents,” says Copeland. “I know that it is important to all of us to get the word out about live kidney donation. Think how many more people won't have to die of kidney disease because of this breakthrough.”
“This is how kidney disease affected us,” says Smith. “In our immediate family, there are eight members. Two members became donors, three were recipients, two were rejected as donors, and one was too young to donate. I can't possibly count the number of surgeries we've all had,” said Smith.
“To celebrate Christmas this year, where no one is in the hospital and no one is on dialysis, is amazing,” says Smith. “We are no longer chained to the hospital. We are so very grateful.”