Living a ‘Normal’ Life with ARPKD

During the interview for this article, Jean-Paul Fisch, a smart, sweet and gregarious 10-year-old boy from Burke, VA, said, “Tell me when the boring part is over.”

That boring part was the discussion with Evelyn, his mother, about the family’s history with Autosomal Recessive Polycystic Kidney Disease (ARPKD).

Jean-Paul has ARPKD, but to him, it IS a boring topic. Having ARPKD does not severely impact his life right now, and he’s much more interested in talking about other things. He doesn’t think about ARPKD every day and is, for the most part, living the same, normal kind of life as other 10-year-old boys. He loves being with his friends, building things, playing computer games, riding his bicycle, swimming and having fun on the trampoline.

In addition to Evelyn, Jean-Paul’s family includes his father, Fred, a 14-year-old brother, Matthew, and a 12-year-old brother, Kevin.

The Fisch family first learned about ARPKD in a very different way than most parents. Jean-Paul was 6 years old when he was diagnosed.

Evelyn, originally from Colombia, has a brother who is a retired pediatrician. On a visit to Colombia, her brother noticed that Jean-Paul was anemic. Several years later, Jean-Paul again showed signs of anemia. At that point, doctors did an ultrasound, found polycystic kidneys and made the official diagnosis.

Looking back, Evelyn can now understand some things that seemed unusual before birth and during those first years of Jean-Paul’s life the fact that she had no amniotic fluid, had to be induced and delivered him three weeks early, Jean-Paul’s swollen belly and his insatiable thirst.

After hearing the ARPKD diagnosis, Fred and Evelyn felt guilty and extremely sad for months and months. They were angry and worried that it had taken so long to make the diagnosis. They wondered if something could have been done much earlier to help Jean-Paul if only they had known about the PKD. They didn’t talk about it with friends or family much, because it was too painful.

After some time had passed, it became easier to cope. Evelyn and Fred began to conduct Internet research and learned a lot. They began to share the news with family and friends, who offered tremendous support. But learning too much about ARPKD became a great burden. They realized that, although it was necessary to know enough to determine the best care for Jean-Paul, it was also paralyzing to hear all of the negative stories out there. They needed to just focus on Jean-Paul and ignore the pessimistic things that did not specifically pertain to his case.

It has helped that from the time of Jean-Paul’s diagnosis, the Fisches have been fortunate to have good medical care and health insurance. They have felt very lucky to work with such a knowledgeable and forthright pediatric nephrologist, a doctor careful to be realistic and objective about Jean-Paul’s condition. Evelyn feels strongly that having the right nephrologist one with whom you feel comfortable and can work with is essential. Having excellent insurance has also brought peace of mind from knowing that health-care expenses will not drain the family resources and lead to undue hardship.

Even though Jean-Paul is doing well, that doesn’t mean that he and his family have not been impacted by the disease. Jean-Paul takes five different medications every day, including those for blood pressure, acidosis and anemia. He is also on a low-protein, low-salt diet and does not participate in contact sports. Iron is hard on his system, and he sometimes experiences pain and constipation from too much. Jean-Paul visits the nephrologist every three months, has regular blood work and an annual ultrasound to watch for disease progression.

At this point, Jean-Paul’s health looks good, and there is a lot to be grateful for. At Jean-Paul’s last exam, the nephrologist was very optimistic. There is no current talk of transplant, and his kidneys are functioning at about 65 percent.

While maintaining Jean-Paul’s diet is a challenge, the family as a whole is actually eating much better. They all eat more fruit and vegetables and restrict salt intake, and Jean-Paul never complains about taking medicine or eating differently.

Jean-Paul is not defined by the fact that he has ARPKD, and the Fisches remain optimistic. They have gotten involved in their local (National Capital) PKD Foundation Chapter. In fact, it was at a PKD Foundation Annual Conference on PKD, through talking to other families of children with ARPKD, that Evelyn first learned the best method for giving Jean-Paul his growth-hormone shots.

At that same Conference on PKD, they also learned about a National Institutes of Health (NIH) study for children with the disease. Once each year, Jean-Paul and one of his parents stay at the NIH for a week (an easy trip since the NIH is located in Bethesda, MD only about a half-hour from their home), where he undergoes tests that may help improve the care he and other children with ARPKD receive.

If you would like to contact Evelyn or Fred Fisch, please e-mail them at FFisch@fdic.gov.