Family stays positive in face of challenges
Manalapan residents want others to know about rare disease
BY AMY ROSEN
Staff Writer

Lisa Reinish embraces her daughter, Shelby, during a recent parents' day visit to the performing arts camp Shelby was attending. The Manalapan mother and daughter are both battling the effects of von Hippel-Landau disease.

MANALAPAN - The Reinish family is much like any other family in Manalapan. Jim works as a manager of business and financial services for the Port Authority of New York and New Jersey during the day and tutors students for the SAT test on weekends and most evenings.

Lisa, a former art instructor, now stays at home and takes care of everything else. Their son, Daniel, 22, attends graduate school at the University of Virginia; daughter Ariel, 18, just completed her first year at Columbia University; and daughter Shelby, who will be 15 in August, just completed her freshman year at Manalapan High School.

All families have their ups and downs. Such is the roller coaster of life. Sometimes, though, the down times can overshadow the highs, as the Reinish family found out five years ago when Shelby and Lisa were both diagnosed with von Hippel-Landau disease (VHL), a rare, genetic multisystem disorder characterized by the abnormal growth of tumors in certain parts of the body.

Shelby presented five years ago with a retinal tumor that was hemorrhaging.

"We went to Wills Eye Institute in Philadelphia and the tumor oncologist there diagnosed it," Lisa said. "After that, the whole family went to Children's Hospital in Philadelphia for genetic testing. It came back that I was a mutation [had a mutation in a dominant gene] and I had passed it to Shelby."

Lisa explained that VHL is a systemic disease in which a person's body produces multiple cysts and tumors, most often on the brain, spine, retinas, adrenal glands, pancreas and kidneys. Tumors can also form on the bone behind the ears.

According to the National Institute of Neurological Disorders and Stroke's Internet Web site, the tumors of the central nervous system (CNS) are benign and comprised of a nest of blood vessels called hemangioblastomas (or angiomas in the eye). Hemangioblastomas may develop in the brain, the retina of the eyes and other areas of the nervous system. Other types of tumors develop in the adrenal glands, the kidneys or the pancreas.

Symptoms of VHL vary among patients and depend on the size and location of the tumors. Symptoms may include headaches, problems with balance and walking, dizziness, weakness of the limbs, vision problems and high blood pressure. Cysts (fluid-filled sacs) and/or tumors (benign or cancerous) may develop around the hemangioblastomas and cause the symptoms listed above. Individuals with VHL are also at a higher risk than normal for certain types of cancer, especially kidney cancer.

"You can just imagine the horror of what they were telling me. I couldn't believe what I was reading," Lisa said of the information she found while further researching the disease. "When the [VHL] tumors appear in the kidneys, they are cancerous. Although they are not malignant when found in other parts of the body, the growing tumors can still affect other organs and cause problems such as diabetes, high blood pressure and hormonal abnormalities."

Lisa and Shelby had further testing after the diagnosis of VHL was made. The testing determined that Lisa had multiple cysts on her kidneys, but one was "complex" and therefore malignant.

"It turned out that Shelby saved my life because I had kidney cancer that I didn't know about," she said.

The Reinish family turned to the VHL Family Alliance, a voluntary health membership organization dedicated to improving diagnosis, treatment and quality of life for individuals and families affected by von Hippel-Lindau syndrome. Founded in 1993 by three families with VHL, the organization works to empower people to manage their health through information, education and research and is now in touch with an estimated 14,000 people in 72 countries.

"Through the VHL Family Alliance, thank God for them, I found out about the National Institutes of Health (NIH) in Bethedsa (Md.). The volunteers at the family alliance have been so supportive. I have made friends with a woman in Texas whose family has been affected by VHL and she has helped me through this whole experience," Lisa said.

"Shelby and I were both accepted into the NIH's clinical trials for brain, spine and eyes. Now I'm being seen for my kidneys and we go there every six months for each. They have been doing research on this disease for the past 15 years and they are more familiar with the disease than most doctors. When other doctors may advise patients to remove the kidneys, NIH says to watch it and remove the tumor when it reaches three centimeters," she explained.

Lisa underwent successful surgery to remove the tumor last year when it grew to 3 centimeters. The doctors are now watching a tumor on her other kidney.

"[The tumor] was removed through laparoscopic surgery," Lisa said. "My recovery was quick and I was able to watch my daughters dance together at a recital and attend my daughter's graduation."

Lisa and Shelby each have two tumors on their brain and Shelby also has one in her spinal cord.

Over the years, Shelby has had nine eye surgeries. She is now blind in her left eye, and it is a matter of time before she loses her eye and needs a prosthetic one.

Each time she has had surgery, scar tissue developed and caused more complications. Doctors have told Shelby they cannot risk any further surgery because that may speed up the process of her losing her eye.

Lisa and Jim made it clear the family is not looking for sympathy. They want people to know about this disease because it is not commonly diagnosed and because people need to be aware of its existence.

According to Ariel, who has done extensive research and is always trying to raise awareness and funds for VHL research, it is estimated that 1 in 32,000 people worldwide have VHL. Ariel recently raised $250 for the VHL Family Alliance through a sale of bracelets and has set up Web sites and awareness groups on the Internet site Facebook for people to share their thoughts on the disease and to let people who have VHL know they are not alone. She and Shelby hope to do more for the organization in the future.

The Reinish family wants to spread the word that with early detection, VHL can be better monitored and its progression can be controlled before it gets out of hand.

According to the VHL Family Alliance handbook, while there is no cure as of yet, there are a number of very effective treatments and more are being discovered. It is clear that the best way to manage VHL is to identify issues early, monitor and treat them appropriately with minimal invasion and damage, and focus on long-term health.

Because VHL varies so widely, there is no consistent set of symptoms in each person. It is important for those with a family history of VHL to tell their doctor or their child's pediatrician and begin screening early, before any symptoms occur. VHL Family Alliance recommends regular screening of children at risk by age 1 to 3, especially for eye examinations, and to inform the pediatrician of the family's history of VHL.

Lisa implores everyone, regardless of their family history, to have an annual eye examination with dilation of the pupils. She believes that Shelby would not be in her present position if she had been given a complete examination by an eye doctor before she turned 1.

According to the American Optometric Association's Internet Web site, all infants should receive an evaluation for vision problems and eye disease by a doctor of optometry by 6 months.

Lisa said it is also important to be aware of family history, and if a relative had a history of tumors on the brain, kidney or eyes, to mention it to a doctor and to not be afraid to question the physician. She also mentioned that some people fear DNA testing, but it is just a simple blood test.

"Going to NIH and seeing the other people there who have other diseases, it's so humbling," Lisa said. "We walk out of there and you just thank God there are places like that out there that help these people. The doctors, nurses and technicians are so warm and helpful and they answer all of your questions. It's not like going to a regular hospital."

She stressed the importance of continued support and funding for clinical trials at the NIH so they never stop doing research and offering advice and guidance to people who are accepted into their programs.

"Seeing Shelby and my mother going through it is upsetting, because although I'm very grateful that it didn't happen to me, I love my family and we all bear the consequences," Ariel said. "Going to the NIH has helped my perspective on life. This all started when I was in high school, and suddenly, the normal problems like having the bottom locker don't seem so important any more. Everyone has their own problems and some have it worse than we do and some people have it not as bad, but as time goes on you learn how to deal with it."

The disease has affected the entire family and things have to be put on hold, such as driving lessons for Ariel, but she doesn't complain, she understands. She says that in the past five years the family has become closer.

Lisa says that a strong family support system is the key to positive results. Ariel goes to most doctor visits and Daniel left pre-graduation celebrations at school to surprise Shelby before she had to go through a procedure recently. They admire Shelby's strength and patience, especially while waiting for hours at doctors' offices, and try to make the long days as pleasant as possible with dinner at Shelby's favorite restaurant. Shelby is included in all conversations with doctors about her condition and prognosis, and no news is kept from her.

The family members say they have learned to appreciate the small things in life.

"We are all entitled to fall apart a little every so often, and that's OK," Lisa commented. "But we have to remain positive, and we know that no matter what happens, we are there for each other and we will deal with it. Aside from having my kids, the best thing I've ever done was marry Jim. He holds the family together, calms me down and says, 'We'll figure it out, what else can we do?' "

Jim is a survivor of both terrorist attacks at the World Trade Center and he lost many friends, including a best friend. He admires Shelby's strength.

"I went to have my eyes examined and found it hard to keep still during the examination," Jim said. "Shelby sat down and didn't flinch."

Despite his trepidation around low-flying planes, Jim and Lisa encourage Shelby to do and see everything she wants to. At the time of the interview Shelby was away at performing arts camp, having a great time. She loves singing, dancing and performing. A member of the Manalapan High School choir, Shelby was recently presented with a trophy for Outstanding Soloist during a performance in Washington, D.C. She was overwhelmed with joy as her fellow students cheered for her and hugged her.

"Shelby is probably the kindest and sweetest person I know, not just because she's my sister," Ariel said. "She's like my best friend. She's an inspiration to me and she just lights up the world. She gets sad if you kill an ant on the ground."

"That's typical Shelby," her father added. "Everybody loves her, even the doctors at the NIH."

When reached at camp for a comment, Shelby said, "I have learned a lot from VHL. I don't take life for granted anymore. I realize I can't control what happens. I take life as it is, smooth or bumpy, but one day at a time. I enjoy the small things."

For more information about VHL call (800) 767-4VHL, e-mail info@vhl.org or visit the Web site www.vhl.org.