A Family's Milestone: Kidney Transplant

If wishes were horses, Joyce and Damon G. would own a herd to ride down the leafy streets of Brookline, beating a swift retreat from words like tumor, metastasize and malignant.

Instead, on Wednesday, July 25, this mother and son capped a milestone in their 15-year struggle to educate themselves and the medical community about von Hippel-Lindau (VHL). In a three-hour operation at Beth Israel Deaconess Medical Center in Boston, doctors removed Joyce’s left kidney and successfully transplanted it into her son, ending his two and a half years on dialysis.

It was a mother’s sacrifice, accomplished after a year of dieting, soul searching, meditation and prayer.

VHL has plagued their family the past three decades. A bout of nausea and vomiting once raised the question: "Is it the flu, or is it a brain tumor?" Fortunately an MRI assured them it was the flu, but questions like this are not unusual in families grappling with VHL.

In 1977, Joyce’s husband, Frank, 35, died after a 20-year battle with Von Hippel-Lindau syndrome, an often misdiagnosed and overlooked multi-system disorder that had claimed his own father’s life as well. VHL is a genetic tendency toward formation of vascular tumors of the retina, brain, spinal cord, kidney, pancreas, or adrenal gland. Some of these, especially in the kidney or pancreas, can progress to cancer if not treated appropriately.

Then, little more than a year after her husband’s death, doctors discovered a cancerous lump in Joyce’s right breast.

With her 6-year-old son, Damon, having just lost his father, Joyce opted for a mastectomy to spare him the sight of her exhaustion and uncertainty under chemotherapy.

"I needed a clean answer," remembers Joyce, fighting back tears for the first time in a series of interviews on her family’s health. "I needed to hear ‘OK, you’re fine. We got it all.’"

The operation saved Joyce’s life, but her troubles weren’t over. In 1986, Damon, then 15, was diagnosed with Von Hippel-Lindau syndrome. In Damon’s case, the disease attacked his kidneys.

Doctors urged Joyce to allow them to remove both of Damon’s kidneys and put him on dialysis while awaiting a kidney donor. She resisted, even when doctors emphasized she might be playing roulette with her son’s life. He was a healthy, teenager with no symptoms, and she did not want to put him on such an arduous course at such a young age. She needed more information, from doctors who had seen more than one or two cases, and who knew more about the growth and development of kidney tumors.

Determined to know her enemy, Joyce began urgent research into Von Hippel-Lindau. It was a decision resulting in the establishment in 1993 of the Von Hippel-Lindau Family Alliance, a network of more than 10,000 people afflicted with the illness in 67 countries. The VHLFA has established a toll-free help line, a website, and an international support group.

But in those early days, little was known about the growth and natural history of kidney tumors. An article was written about her son’s case, noting that he was the youngest person in which they had ever seen kidney tumors. But Joyce found that at that time he was one of the youngest they had ever screened for VHL in the kidney. She found doctors in Kansas, England, and Germany who were able to assure her that a more conservative course of action was not stupid, it was in fact the right thing to do. Nonetheless, Damon underwent multiple surgeries to forestall the cancer’s advance. He lost one kidney at age 19. Two and a half years ago, another operation failed to save his second kidney, forcing him into a regimen of dialysis that didn’t end until last week.

"He’s had four kidney surgeries. The organ can only take so much before it fails," Joyce explained. With better surgical techniques, it is possible now for a kidney to survive as many as 3-4 surgeries, but the trick to staying on your own kidney power is to minimize the surgical assault on the kidney – delay surgery until the largest tumor is approaching a dangerous size, and/or treat tumors with less invasive techniques like Radio Frequency Ablation (which uses a heat probe inserted through the skin, much like a needle biopsy). In Damon’s case, early efforts to minimize the requirement for blood transfusion caused extensive scarring to the blood vessels feeding the kidney, and this scarring complicated the future surgeries

After his second kidney failed, Damon went on dialysis three nights a week, five hours at a stretch, while his name lingered on a waiting list for a kidney donor that in New England was nearly five years long.

Dialysis was clearly impacting his health. Tumors on his retinas had already cost Damon his left eye, and laser surgery to remove a tumor from his right eye left a permanent blind spot Damon likens to having just stared at the sun. His best chance for long-term transplant success was a living related kidney donor.

Joyce offered to donate, but at first was rejected. Joyce, who had long struggled with obesity and high blood pressure, was in her late 50s and, at a shade over 5 feet-tall, weighed well over 200 pounds. Even a trip up a flight of stairs left her winded. Damon’s Aunt Susan Leonard from California volunteered. A DNA test confirmed she did not have VHL, and she was accepted as a kidney donor, but at the last minute, literally on the day of the scheduled transplant, with suitcases in hand, they were told that the doctors wanted to postpone for six months to watch a cyst on his spleen, to be certain that it was not metastatic cancer. The disappointment was devastating to all. Six months later when the cyst had disappeared and Damon had medical clearance, Susan’s husband was facing heart surgery and three joint replacement surgeries, and she was unable to proceed.

Joyce went to two other transplant teams, trying to understand what it would take for her to qualify as a donor. Dr. Martha Pavlakis and the transplant team at Beth Israel Deaconess Hospital in Boston helped her set realistic goals to ensure that donating a kidney would not be harmful to her own health. They told her she would have to lose 70 pounds and get her blood pressure under 150/90 on one blood pressure medication, not two.

In the meantime, dialysis was claiming a large section of Damon’s time and energy. Waste unable to be cleaned out through the procedure would seep into his skin, causing him constant itchiness that resulted in welts as he scratched in the night. The treatments forced him to limit his liquid intake, causing constant thirst.

The dialysis also became a scheduling nightmare for Damon, who traveled frequently in his position as an advertising salesman for high-tech magazines. He would contact hospitals around the country weeks in advance of his arrival, only to hear that they would not be able to confirm a dialysis treatment until a few days before the appointment. Nonetheless he continued to work and travel in the U.S. and Europe.

Joyce, meanwhile, set to work on herself. "I had to face the fact that I was using food to manage stress. I had to find other healthier ways to deal with it."

Under the advice of nutritionists and personal trainers, Joyce avoided starvation diets, water-loss diets, diets that promised instant miracles and lifelong dreams achieved overnight. She knew that sudden, drastic weight loss could damage her kidney, weaken her and make her useless to her son. Doctors warned that losing more than two pounds per week could be dangerous, or result in her regaining the weight.

Joyce went through the Cardiac Wellness program at Beth Israel, a combination of exercise, nutrition, and meditation, under the direction of Dr. Herbert Benson, designed to control blood pressure and other cardiac risk factors without medication. This program was funded in part by her health insurance. She also began a progressive program of weights, low-impact aerobics, and a host of exercises prescribed by trainers at the Fitness Connection in Coolidge Corner, a fitness site that became one of her regular haunts. She met with a personal trainer an hour every 6-8 weeks to adjust her program as she progressed.

"I’m exercising muscles I never knew I had," said Joyce, who now benches 60 pounds regularly.

Last week, on the day before the kidney transfer, she was ready.

"When the doctors set those goals," Damon chuckles, "I don’t think they thought she would do it, but I knew from the first that she would. They didn’t know who they were dealing with." Nonetheless, Damon was almost afraid to be excited at the prospect of the transplant. He knew all too well that there are many things that can go wrong. A cousin who volunteered and went through six months of testing was disqualified due to factors that might put him at risk in the future with only one kidney. "In October 1999 before I met Aunt Susan at the hospital I had taken flowers to the dialysis nurses to thank them, and made a big deal of ending dialysis, only to wind up back there the following week. This time I don’t want to do anything to jinx myself. I’ll believe it when it happens."

Joyce looked almost cheerily at the surgery ahead.

"People ask me if I’m afraid of the surgery. I’m actually very excited. It’s almost like having a baby," she said, sitting in the living room of her Brookline home hours before going under the knife. "You don’t look forward to labor and delivery, but you do look forward to a great outcome … There’s a purpose to this, there’s a mission."

On the day of the operation, Damon walked the mile from his apartment to the hospital. Joyce wanted to walk the two miles from her home as well, to enjoy the fresh air. Her sister Margaret Smith insisted otherwise and drove her to the hospital.

Three hours after the first incision, it was over.

"They had us in beds that were next to each other in the recovery room," Joyce said afterward. "My sister was standing between our beds, holding one of each of our hands, and I said, ‘Tell him I’m sending a hug his way.’"

For the first time in two-and-a-half years, Damon could eat the foods he and his doctors have long since relegated to his list of "forbidden fruits" — gourmet coffee with cream, pizza, bananas, oranges and ice cream, hot chocolate with breakfast, macaroni and cheese and more…

It had been more than two years since he had peed on his own.

"But the best thing of all," Damon says, "is that I no longer itch. I have been itching like crazy for years now, and I am now much more comfortable in my own skin."

Today, Joyce and her son are back home in Brookline, stitched up and healing — both literally and figuratively.

"The new kidney wasted no time in getting down to business," says Damon. "It’s rather like when my mother comes over to my apartment and immediately starts cleaning up. One of the big measures they use to determine your kidney function is to test your creatinine level. A normal person’s creatinine scores between 0.5 and 1.2. Just after surgery, mine was about an 11. The next day it was down to 6, then 4, then 1.7, then 1.4. The creatinine reflects that the kidney is working great."

Now Damon has between 20 and 30 years ahead of him living on his mother’s organ, and he’s successfully chipped away at his core symptom of VHL. Hopefully by then there will be an ever better answer – maybe using stem cell technology to grow him a new kidney of his own cell structure!

"The VHL is not out of my system. I still have to deal with it in other areas — it’s still in my eyes, and there are other areas I have to keep checking — but the biggest problem is out of the way. It feels like I can finally get on with my life," Damon said.

After the death of his father, if there was anything VHL robbed of him in addition to his eyesight and physical comfort, it was time. With his lengthy dialysis treatments hopefully in the past for good, Damon has enrolled in a part-time graduate business program to further his career. Shortly before the operation, Damon took his graduate school entrance exams and scored 770 out a possible score of 800, or among the top 1% of those taking the exam.

"It’s still going to be a lot of hard work for him," says Joyce. "He still has to take a number of medications, and learn when to take what in order to avoid kidney rejection. But he’ll do it. He has always taken responsibility for doing what it takes to maintain his health."

"It’s my life," says Damon. "Overall I am feeling great, ready to begin my new life."

And so far? They both smile. "His new, slightly used, kidney is serving him well."

mystory

As printed in the VHL Family Forum  9:3, September 2001.  For permission to reprint, please contact VHL Family Alliance, editor@vhl.org. Further information is available from the VHL Family Alliance, info@vhl.org.

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