For Whippany Business Owners, Balancing Rare Disease with Work Demands Is Part of Life

For Whippany Business Owners, Balancing Rare Disease with Work Demands Is Part of Life

By Anya Bochman

Madeline Rybkin pre- and post-transplant/photos courtesy Karen Rodas

For Paul Rybkin and Karen Rodas of Rockaway, the path to a sense of familial tranquility has been fraught with health scares and loss, cleared two years ago when a lifesaving transplant gave their infant daughter, Madeline, a new chance at life. Even now, the five-year-old girl who loves her special education classes still struggles with bouts of infection and reactions to her anti-rejection medications.

Still, according to Rodas, the child that emerged post-operation was almost unrecognizable with her newfound energy and playfulness; she was, the mother noted, acting like a “real kid” for the first time.

Madeline’s story stems from a rare set of circumstances in which both of her parents were genetic carriers for autosomal recessive polycystic kidney disease (ARPKD). The disorder, which results in the deterioration of kidney and liver function, can be fatal. According to the Polycystic Kidney Disease foundation (PKD), the disease occurs in 1 in 20,000 individuals. While carriers like Rybkin and Rodas do not have the disorder themselves, the fact that they both have the gene vastly increased the chances of their children inheriting it. Tragically, their son Nathaniel died from the condition in 2012, only 36 hours after his birth.

Nathaniel’s enlarged kidneys left him with decreased lung tissue, and there was little the doctors could do to intervene medically. During this difficult time, the couple made the decision to donate Nathaniel’s healthy tissue and organs to other children in need.

When Rodas became unexpectedly pregnant with Madeline, doctors suggested the couple terminate the pregnancy due to the risk of inherited ARPKD.

Ultimately, Rodas decided she didn’t want to go down that route, and looked elsewhere for care during the high-risk pregnancy.

“We found a doctor who was more optimistic. He had treated many ARPKD patients. He told us there was hope and that she could have a full, meaningful life,” she said at the time.

Rodas attributes Madeline’s survival to a less intense form of the condition than Nathaniel had, which gave her time to gain enough weight to be eligible for the lifesaving kidney transplant – with dad Paul being the happy donor.

“There was always some sense of guilt, as though we gave [the condition] to Madeline. When we found out that Paul was an excellent donor match, he couldn’t be happier,” Rodas said. “He would have donated immediately if he could, but she needed to be a certain weight before they could operate.”

Waiting for the day of the transplant was a challenge; Madeline was born prematurely at the Children’s Hospital of Philadelphia on Nov. 7, 2013, and was immediately hooked to a ventilator to help her lung tissue development. Madeline’s kidneys were full of cysts common with ARPKD and she spent seven weeks in the NICU, nourished by a feeding tube.

Because her kidney function was heavily compromised, with the organs swelling to nearly triple the size of a healthy adult kidney, Madeline struggled with eating and keeping her food down. Her abdomen was extremely distended from accumulation of fluid that her kidneys struggled to filter; her swollen belly led to a number of distasteful tabloid articles advertising the infant who looked “pregnant.” Even the child’s breathing was affected, and Rodas described the first two years of her life as a revolving door of hospital stays.

“She was always tired, and she had trouble walking and talking,” Rodas said.

Watching their daughter’s declining health with alarm, the couple decided to get a second opinion from Ron Shapiro, surgical director of the Kidney and Pancreas Transplant Program at Mount Sinai’s Recanati/Miller Transplantation Institute in 2015. After a number of tests, Shapiro scheduled Madeline’s transplant for January of 2016.

The operation couldn’t have come earlier, as by that time Madeline’s kidney function had deteriorated to the point that she needed to be on emergency dialysis. Performed by Shapiro and Dr. Scott Ames, the surgery was a success, and as both Madeline and Paul recovered, Rodas watched in amazement as her daughter transformed.

“It’s like she was a totally different child than before. I had never seen her in so much motion,” Rodas said. “I used to just sit her down on the examination table at the doctor’s office; [after the surgery] I couldn’t keep her still. She was curious and eager to touch everything, and do everything she wasn’t able to do before.”

Madeline still has low muscle tone from her pre-surgery years of low mobility, though she is catching up to her peers. In school, she takes special education classes where her teachers help address the educational gaps resulting from her numerous hospitalizations. And although according to Rodas, Madeline loves school, the girl struggles with anxiety following her ordeal.

During the phone interview, after Rodas used the word “doctor,” Madeline’s small worried voice could be heard in the background – “Are we going to the doctor, mommy?”

“Since we go to the doctor so often, she never knows what will just be a routine check up and what will result in her having to go back to the hospital,” Rodas explained. “So she has her moments of anxiety. She also lost a lot of time in the hospital while the other children were playing, so there is social anxiety as well.”

Rodas and Rybkin have tried to be as straightforward as possible with Madeline; as a result, she knows that she had a transplant, that she has “daddy’s kidney,” and that she must take her immunosuppressant meds.

“She’s little, so it’s hard to explain it to her fully,” Rodas says tearfully. “But at home, she does what a normal five year old does – except that she takes her medication every night.”

The medication suppresses Madeline’s immune system to keep it from rejecting her transplant; she will have to take it for the rest of her life. As a result of her compromised immune system, she suffers from frequent UTIs and other infections, some of which require hospitalization. The latest bout came after a minor illness affected the way her medication worked, throwing off her kidney function.

Rodas and Rybkin, who own and run Mimi’s Delicatessen in Whippany (and Mimi Too in Madison) struggle to balance their business with Madeline’s health concerns. Mimi’s is a multigenerational business that strives to “treat customers like family.” Rybkin created the deli’s breakfast and lunch menu, and works there fulltime.

The couple are also raising Jackson, a 12-year-old son from Rodas’ previous marriage, and their four-year-old daughter, Penelope – who is a carrier of ARPKD but does not have the condition.

The couple was understandably fearful that their youngest daughter would have the disease as well; for this reason, Rodas’ pregnancy was closely monitored and at 20 weeks, Penelope was shown to be ARPKD-free.

Despite the relief of giving birth to a “completely healthy” child, the parents continue to struggle with Madeline’s health concerns. The child’s latest hospitalization, in particular, was “tough” according to Rodas.

“You just have to deal with it. My parents will sometimes take Penelope, but this time, she wanted to stay with her father while he was at work and I was with Madeline at the hospital,” Rodas explained. “My husband tried to be home earlier to be there for our kids, and you just have to manage – but it’s still tough.”

Compounding the couple’s troubles is the fact that transplant rejection is always a possibility, although their surgeon could not tell them with certainty how long the organ can be expected to function. In addition, Madeline’s disease also affects her liver, which is already showing signs of cirrhosis. The progressive nature of ARPKD means that Madeline will eventually need a liver lobe transplant, with Rybkin again being the donor.

Madeline gets regular check ups with a GI specialist to monitor the deterioration of liver function; while the progression of the disease has been slow thus far, the need for a transplant is inevitable in a few years.

In the meantime, Rybkin continues to manage the delicatessen while Rodas has taken on childcare full-time.

“I do as much as I can to care for the kids now that I’m on a ‘working break,’” Rodas explained. “My parents help, but they live in Saddle Brook, so it’s not always an option. I try to schedule Madeline’s doctor appointments when business is slower at the deli. It’s tough but we deal with it.”

Rodas, who is a native of Guatemala, didn’t have too many plans for this year’s Mother’s Day; she stated that she marked the occasion the way she usually does, with a special “Guatemalan Mother’s Day” with her own mom.

Rodas also hopes to spread awareness for ARPKD.

“We want to highlight Madeline’s condition; we had never heard of it before,” she said. “But the more you speak to people, the more you realize how many are affected by it despite it being rare.”

To help raise awareness, the family participates annually in the New Jersey Walk for Polycystic Kidney Disease.

“Right now there is no cure or treatment for PKD and that absolutely needs to change,” Rodas said in a recent Facebook post. “To make that happen we need your help. 100 percent of the donations collected go right to research to help patients like Madeline and to hopefully make stories like that of our Nathaniel a thing of the past.”

Information on PKD and ways to combat it is available at www.walkforpkd.org

 

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