A Family’s Milestone:

Mother donates kidney to son, latest skirmish in a lifelong struggle against rare form of cancer

By Frederick Melo, Staff Writer, the Brookline Tab, August 1, 2001*

Donates kidney
founds international support group
celebrating the miracle

If wishes were horses, Joyce 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, Joyce, of Brookline, capped a milestone in her 15-year struggle to educate herself and the medical community about the unusual form of cancer afflicting her only child. In a three-hour operation at Beth Israel Deaconess Medical Center in Boston, doctors removed her left kidney and successfully transplanted it into her son, curtailing a lengthy wait for a donor and possibly saving his life.

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

Cancer has plagued her family the past three decades, according to Joyce. A bout with the flu was enough to send her son for MRI testing — and a series of headaches in her late husband into reason enough for exploratory surgery.

In 1977, Joyce’s husband, Frank, 35, died after a 20-year battle with Von Hippel-Lindau syndrome, an often misdiagnosed and overlooked form of hereditary cancer that had claimed his own father. Unlike most cancers, Von Hippel-Lindau (VHL) is a form of vascular cancer and can strike anywhere in the body. 

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, D., 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; doctors discovered the family plague had befallen her son. In 1986, D., then 15, was diagnosed with Von Hippel-Lindau syndrome. In D.’s case, the cancer attacked his kidneys.

Doctors urged Joyce to allow them to remove both of D.’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.

Determined to know her enemy, Joyce began urgent research into Von Hippel-Lindau. It was a decision resulting in the establishment of the Von Hippel-Lindau Family Alliance, a network of some 10,000 people afflicted with the illness. She’s established a toll-free help line, a website, and an international support group. 

Joyce did all that even as her son continued to struggle. Four years after first being diagnosed, doctors removed one of D.’s kidneys to forestall the cancer’s advance.  Three years ago, an 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.

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

Dialysis was clearly impacting his health. Tumors on his retinas had already cost D. his left eye, and laser surgery to remove a tumor from his right eye left a permanent blind spot D. likens to having just stared at the sun. A kidney donor was needed to be found in a hurry.

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 wheezing and winded. Doctors told her she would have to lose 70 pounds to be accepted as a donor for her son, a mission she adopted wholeheartedly.

In the meantime, dialysis was claiming a large section of D.’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 D., 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.

Joyce, meanwhile, set to work on herself. 

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 sudden, drastic weight loss could damage her kidney, weaken her and make her useless to her son, and doctors warned that losing more than two pounds per week could be dangerous, or result in her regaining the weight.

Joyce took to a combination of weightlifting and heart conditioning through aerobics, meditation, daily four-mile walks 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.

"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 told her to lost that much weight, I don’t think they expected that she would do that, " said David Salovitz, a close family relative." But she was regimented, and by a week before the operation, she had lost exactly 70." 

At her reduced weight, the 57-year-old woman received accolades from friends and family for undergoing the risky procedure, and looked almost cheerily at the surgery ahead.

"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, Joyce wanted to walk the two or three miles to Beth Israel Hospital 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, " said Joyce 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, D. could eat the foods he and his doctors have long since regulated to his list of " forbidden fruits " — Dunkin’ Donuts coffee, pizza, bananas, oranges and ice cream, hot chocolate with breakfast, macaroni and cheese …

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

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

"The kidney perked up right away and did right what it was supposed to do, " Joyce said. "It just kicked in and started cleaning house. It’s doing great." 

Now D. has between 20 and 30 years ahead of him living on his mother’s organ, and he’s successfully chipped away at the core symptom of the VHL curse.

"It’s not out of my system. I still have to deal with it in other areas — it’s still in my eyes, and there’s 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, " D. 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, D. hopes to take part-time business classes to further his career.

Shortly before the operation, D. took his graduate school entrance exams and scored 770 out a possible score of 800, high enough, he’s sure, to place in any M.B.A program.

"It’s still going to be a lot of hard work for him. He still has to take a number of medications, and learn when to take what to avoid kidney rejection," says Joyce. 

But so far?

"It’s serving him well, " she said.

Brookline mom founds international support group

by Frederick Melo, as published in the Brookline Tab, August 1, 2001

Joyce G.’s husband fought a losing battle against Von Hippel-Lindau syndrome at a time when doctors could do little more than throw up their hands at the disease. The often misdiagnosed form of cancer results in knotty tumors along the capillaries and blood vessels, causing a host of symptoms.

"We went from crisis to crisis. You’d think you were doing fine, and then you’d wind up in the emergency room," remembered Joyce, 57, of Brookline.

Joyce watched her husband undergo back-to-back surgeries throughout his 20-year struggle with VHL.

Part of the challenge of catching VHL in its early stages, Joyce discovered, is that few medical tests outline the vascular structure. The tiny, cancerous knots can be seen by modern high-powered imaging equipment, but not standard X-ray.

The cancer is also one of the trickier of the more than 7,000 known inherited diseases. It rarely occurs exclusively in any one organ of the body, and symptoms are so common and varied they often lead doctors on a wild goose chase.

It was a reoccurring concern for Joyce’s husband, Frank, who died in 1977 at the age of 35. In one incident, he passed a series of medical tests with flying colors, but still complained of severe headaches. 

"They cut him open and removed a cyst the size of a potato, " remembered Joyce. " The tumor itself was about the size of your fingernail, but the cyst associated with it was monstrous. " 

Today, CAT scans and MRI exams take the place of exploratory surgery. Even so, VHL is rare enough that few doctors know to check for it when patients complain of physical discomfort.

In 1986, when her 15-year-old son was diagnosed with VHL, Joyce decided to put off doctors’ recommendations to remove both his kidneys. Instead, she hit the books and connected with doctors in other parts of the country and world who led her to more conservative treatments.

Faced with a dearth of medical research on the syndrome, Joyce did her own. While flipping through medical texts at the Harvard Medical Library in 1986, she realized she had already set out on a mission.

"All of a sudden, I said to myself, I am doing what a doctor would have to do to find out about this disease, " she said. "And the chances that a doctor would have the time or the library to do this research are slim to none, and that’s true now more than ever because of the pressures of the HMOs. " 

Over the years, her own travels brought her to the National Institutes of Health in Bethesda, Md., a medical expert on the disease in Freiburg, Germany, and any number of other countries to conduct her research. Along the way, she met with families afflicted by VHL, founding an international support group, the VHL Family Alliance, and publishing a handbook on the disease.

With research in hand, Joyce also started a toll-free hotline — 1-800-767-4VHL — that links to a dedicated committee of volunteers in Louisiana, Minnesota, Mississippi and New York.  The website at www.vhl.org is a treasury of information about VHL for families and for physicians.

Today, she said, her hotline and support group connects 10,000 people in 57 countries.

"It’s especially amazing to me because we were told that there were only nine other families in the whole world with VHL. It made us feel like we were from Mars, the only people on Earth with this disease," Joyce said, "which is just a bunch of hogwash." 

Last week, Joyce came home from an operation that successfully transplanted her healthy kidney into her son. With that obstacle tackled, she hopes to be even more of a resource to families who live with VHL.

"When you talk with another person from a VHL family, they ask the meaty, pointed questions that really get at the source of your fear, and get you to open up, " she said. "Going through this by myself for 30 years was horrible. It was an isolating experience.  Having a support system is like lancing a wound and allowing it to heal." 

The VHL Family Alliance is dedicated to improving diagnosis, treatment, and quality of life for individuals and families affected by von Hippel-Lindau syndrome. In addition to education and support, it funds research on VHL seeking better management and ultimately a cure for VHL. Your donations help!  VHL Family Alliance, 2001 Beacon St, Suite 208, Boston, MA 02135-7787 USA, 1-800-767-4VHL, http://www.vhl.org, or e-mail to info@vhl.org

See Joyce's Healing Garden Quilt - Celebrating the miracle

Donates kidney -- Founds international support group -- Celebrating the miracle