Father, daughter face rare genetic condition together

Ava Roberts, 8, and her mom and dad, Emily and Mark, speak with a reporter Tuesday at Belair Elementary School about the rare condition the father and daughter have, which causes tumors to grow on organs.
Ava Roberts, 8, and her mom and dad, Emily and Mark, speak with a reporter Tuesday at Belair Elementary School about the rare condition the father and daughter have, which causes tumors to grow on organs.

A rare genetic condition runs in Mark Roberts' family.

In Von Hippel-Lindau (VHL) syndrome, the gene which normally suppresses tumors contains a mutation that causes tumors to grow in several organs.

"It runs rampant in my family," he said. "We're pretty much batting a thousand."

That's unusual when considering only one in 36,000 people (about 200,000 worldwide) have been diagnosed with the syndrome, according to the VHL Alliance.

The condition was responsible for his maternal grandmother's death. Of her five children, only one does not have the mutation. All the other siblings' children have it, Mark's wife, Emily Roberts, said.

VHL patients' children have a 50/50 chance of having the syndrome, Emily said.

Although she has not developed any tumors, their 8-year-old daughter, Ava, has tested positive for the genetic condition.

Now, like her father, she undergoes batteries of tests every year.

About three years ago, Mark had been asymptomatic, but Emily insisted he go in for a checkup. Doctors found his liver was not functioning well and thought it was failing, but realized he had tumors on his adrenal glands. The tumor on one of the glands was cutting off blood flow to the liver.

The National Institutes of Health in Bethesda, Maryland, accepted Mark into several national studies. Doctors there removed most of that adrenal gland, and the Roberts began using a holistic approach to their health - focusing on diet and exercise. Mark eliminated processed foods and alcohol from his diet.

After more than two years, cysts on his other adrenal gland, pancreas and kidneys have not changed.

"From there, we did this genetic testing," Emily said. "We knew the family was prone to the condition, but no one had ever tested for it."

Other family members somewhat took an ostrich approach - by putting their heads in the sand and pretending it didn't exist, she said. Once the condition was found in Mark's DNA strand, others were able to identify the condition in themselves.

The condition can affect any place where blood vessels congregate in a person's body, Mark said.

"You need to educate yourself on everything that's wrong with you," Mark said. "You need to educate your doctors."

There's a wealth of information available online, he said.

The VHL Alliance, a nonprofit organization dedicated to research, education and support for people affected by VHL, provides resources for physicians and VHL patients on its website, vhl.org.

Alliance Director of Engagement and Outreach Josh Mann said everyone has the VHL gene - which normally suppresses tumors. It's there to help regulate cell growth.

However, in patients who battle VHL syndrome, blood vessel tumors can grow on specific organs - brain, spine, pancreas, adrenal glands, kidneys, reproductive organs, lungs, liver, retinas and inner ears.

The average age of onset for VHL symptoms is 23, according to the site. The average age of diagnosis is 32.

Because it's considered a rare genetic disease, VHL can be misdiagnosed, Mann said. Someone who has a tumor may not receive the correct diagnosis for years.

"Twenty percent of cases are de novo - random genetics," Mann said. "The other 80 percent are passed down from parent to child."

Even within families, there can be dramatic differences in which organs are affected, Mann said.

In Mark's family, women's eyes have been most often affected.

"It's really tough to predict - just based on the mutations - where it can affect you," Mann added.

A key to surviving with VHL, according to the alliance site, is to continually monitor organs and tumors from the earliest diagnosis of the condition, Mann said.

"It's so important to be vigilant when it comes to surveillance. People may have gotten MRIs and feel fine. That's when they get into trouble. Things pop up overnight," Mann said. "A small problem can turn into a big problem pretty quickly."

VHL patients' doctors will set up surveillance schedules for organs, whether previously affected by the condition or not.

The alliance website suggests people who are at risk for VHL receive DNA tests to determine if they have the mutated gene causing the condition.

Expectant mothers should inform their obstetrician if their family has a history of VHL. People with a family history should inform pediatricians of the history. Children may be checked for retinal disease, white pupil, abnormal blood pressure and other conditions. Older children may be checked for changes to eyes, blood pressure, hearing impairment, neurological disturbances and other conditions. Adults with family histories should have regular audiology and vision checks, MRIs, and other health checks.

Research on the condition has been promising, Mann said.

"Over the past 10 years," he said, "advances in technology have dramatically brought down the age of diagnosis. Also, advances have increased life expectancy."

To stay aware of their medical conditions, every year Ava and Mark undergo batteries of tests, many of which aren't covered by insurance.

To help with some costs, Emily's obstetrician, Dr. Jennifer Su, has organized a Zumbathon fundraiser. The event is scheduled for 6 p.m. Friday at the Capital Ritz Banquet and Dance Center, 2716 Plaza Drive. Dancing should last about an hour and a half.