Julie D. relaxes with her daughters (from left) Samantha, Trinity and Katarina. She wants to increase awareness about a rare condition called von Hippel-Lindau, with which she was diagnosed in 2005. Photo: John Van Putten

Julie D., British Columbia, is cuddling her four-month-old daughter – her third-born child – when she coughs.

The otherwise-normal action sends searing pain through her head. Julie has been having progressively worse headaches since her daughter’s birth, but now the pain is so intense that she almost drops her baby.

It’s time to have her symptoms checked out. What she doesn’t expect to hear, after the appropriate medical tests are conducted, is that she is suffering from the hereditary condition that, years before, she was ruled out as having.

Julie is told she has a benign tumour on her brain and that a fist-sized cyst has grown around it.

The symptoms are all-too-familiar. Her grandmother, mother and an uncle had all experienced tumour growth – the result of a rare genetic illness called Von Hippel-Lindau (VHL) syndrome. In their case, the condition was fatal, as malignant tumours developed on their kidneys.

It is soon confirmed that Julie has inherited the condition. The news couldn’t come as more of a shock.

Her family never talked much about the disease that had ravaged them, but Julie grew up knowing its devastation. She had been told that her mom, Darlene, first displayed symptoms at the age of 12, when she developed eye tumours.

By the age of 38, Darlene developed malignant tumours in her kidneys and had both of them removed. About 10 months later, she required brain surgery.

Julie was 16 at the time of her mom’s kidney surgery, and she became pregnant with her first daughter, Samantha, who turns 11 next week. Julie had never displayed any symptoms of VHL but her parents were worried that she might have it or that she would pass it on to any children she might have.

Her teen pregnancy meant they had to face the situation earlier than they had expected. A test, called “linkage analysis,” was conducted, and Julie was told she did not have the condition nor was she a carrier. In a horrible twist of events, she later discovered that the test is unreliable.

Darlene endured nine years of dialysis before dying on Sept. 11, 2004, at the age of 46. At the time of her death, the kidney cancer had spread to her lungs.

Darlene’s mother had died at 49 and a brother perished at 29.

It is 2005 when Julie is told she could face the same fate, except that things are different with her.

Her years of watching her mother suffer means Julie has learned much about the condition. One thing she has learned is that immediate and ongoing treatment is crucial. Her family had difficulty dealing with the issues surrounding their illness, and treatment was not sought as readily as it could have been.

Julie decides she will take a pro-active approach, backed by the support of her husband Chris, whom she has been with for eight years. He is adamant that VHL “is not a death sentence.”

But the diagnosis brings a heavy burden for the couple. “The first thing that came to my mind was, ‘Oh my God, I’ve given it to my girls,’ ” Julie says.

Believing that Julie did not have the condition, the couple had two children together – Katarina, now 6, and Trinity, 22 months. (Samantha was born before Julie met Chris.)

But before tests can be conducted, Julie must undergo brain surgery to remove the tumour. This takes place on Jan. 5, 2006, and it takes about four months for her to recover from the procedure and the complications that follow.

At this time, testing is more precise than it was when Julie was told she did not have VHL. All three daughters test positive for the condition.

The couple are devastated by the news, but vow to stay positive and do everything they can to educate their daughters and ensure they live long happy lives.

“You hope things change,” Julie says of medical advancements that could lead to a cure.

Chris reassures her: “Don’t hope. It will change.”

Julie has just now recovered from her last procedure – the removal four months ago of a portion of her left kidney, which had developed a cancerous tumour.

She is currently being monitored for tumours on her brain – she had two that seem to have disappeared – and one on her spine, but she doesn’t dwell on the repercussions.

“Pretty much now, when something pops up, it gets taken out,” she laughs.

Julie wants to break the code of silence surrounding the condition and dispense of myths – such as that VHL is a “rage disease,” as suggested in recent media reports.

“This disease does not make you rage. People make themselves rage,” she says.

Her own family’s silence about VHL has already been broken. Samantha recently competed in a French immersion speech contest in which she talked about the condition.

She reached the semi-finals.

Editor’s Note: Anyone who was tested using linkage analysis, especially before 2000, may wish to consider having the test done again. There is about a 15% room for error in such tests, and a few cases have been reported each way -- both false negatives, like Julie’s, and false positives.

Samantha's speech is online -- click here for French and English

As printed in the VHL Family Forum 15:2, May 2007. For permission to reprint, please contact VHL Family Alliance, editor@vhl.org. mystory