How 4 New Jersey Families Cope with Rare Disease

On forging ahead when there’s no cure in sight.

Asher Smith, soon to turn four, has adjusted to the demands of his rare, congenital disease. He’ll start preschool next year. “Even though there are bad days, there are good days too,” says his mom, Kiersten. Photo by Joe Polillio

After a smooth pregnancy and delivery, first-time parents Kiersten and Robert Smith of Williamstown were shocked when nurses whisked their baby boy, Asher, into the NICU because of his abnormally low blood-sugar levels. Even after doctors pumped Asher with a high rate of dextrose for eight hours, his sugar levels barely registered. 

Following three days of working tirelessly to stabilize Asher, doctors delivered the Smiths gut-wrenching news: They didn’t know what was wrong with their baby.

Asher was transferred to Children’s Hospital of Philadelphia, where he was diagnosed with a rare disease called congenital hyperinsulinism, an incurable disorder in which the body makes too much insulin. It’s not surprising doctors at the Smiths’ hometown hospital weren’t able to make a diagnosis. The disease is found in only 1 in 25,000-50,000 births worldwide.

“It shattered our world,” Kiersten says. “This is nothing we were prepared for. We just felt blindsided. We were very naïve [to think that nothing] would be wrong with our baby, much less something like a rare disease.” 

Asher, who turns four in December, is one of hundreds of thousands of individuals in New Jersey who are living with some kind of rare disease, defined as an illness that affects fewer than 200,000 patients in the United States. It’s estimated that almost 1 in 10 Americans have one of approximately 7,000 rare diseases, according to the National Organization for Rare Disorders (NORD). In New Jersey, that translates to about 900,000 people.

Many living with rare diseases face an uphill battle. And while some work is taking place in New Jersey and elsewhere to develop new treatments for rare diseases, researchers often don’t pursue such illnesses because there are not enough patients to make it cost-effective. As a result, more than 90 percent of these diseases don’t have an FDA-approved treatment, according to NORD.

The stories of those living with a rare disease reveal a slew of challenges: soaring medical bills, battles with health insurance companies, and countless trips to specialists. But for some families, like Asher’s, a devastating diagnosis becomes the inspiration to help others and fight for greater attention for these little-known diseases. Their fight takes place at a grassroots level, nationally, even globally. 

Many caregivers start support groups via social media for their specific disease, a critical lifeline for sufferers. In the Garden State, the New Jersey Rare Action Network raises awareness, offers education and support, and lobbies for state legislation that impacts the rare disease community.

“This quest to connect with others with the same disease is very strong,” says Glen Ridge resident Julie Raskin, the network’s ambassador, who started a global advocacy organization for congenital hyperinsulinism. (Her son Ben, now 22, was diagnosed with the disease shortly after birth.) “The intensity with which we have had to search for the correct diagnosis and care for a loved one often ignites a very strong passion.” 

Here’s a look at four New Jersey families who live with a rare disease and how the struggle has shaped them.

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HELPING OTHERS COPE

Looking back, the Smiths realize how lucky they are that Asher was diagnosed relatively quickly. If the diagnosis had been made even a day or two later, Asher could have suffered brain damage, as almost half of infants with congenital hyperinsulinism do. In fact, the average time it takes for rare-disease patients overall to receive an accurate diagnosis is eight years, according to Global Genes, a rare-disease advocacy group. 

Many doctors are unable to diagnose rare conditions because they are seen so infrequently. What’s more, for diseases that don’t have known causes, it’s challenging to test for them diagnostically, says Dr. Diva D. De Leon-Crutchlow, chief of the division of endocrinology and diabetes at the Children’s Hospital of Philadelphia. She also treats rare-disease patients in CHOP’s South Jersey offices. “Physicians may learn or hear about rare diseases in medical school, but don’t ever actually see a patient because the diseases are so uncommon,” says De Leon-Crutchlow. “The lack of familiarity presents a big challenge.”

Once diagnosed, Asher’s fight had just begun. Genetic testing revealed that he had a “super rare” form of the disease, so it had to be treated differently, Kiersten says. At 21 days old, he had surgery to remove most of his pancreas. While other new parents would be learning about diapering and swaddling, the Smiths faced a crash course in endocrinology. They felt scared, disappointed and even guilty once they learned the disease was genetic. 

Two months after his birth, they brought Asher home. To keep his sugar levels stable, he requires medication and a dextrose feed 12 hours a day. For Asher, plugging a tube into the port in his belly is part of his nighttime routine, like taking a bath and reading books. “He’s found a love interest in his g-tube,” Kiersten says. “It’s normal for him.”

He’s even eager to help check his blood sugar three times a day. Whether he’s pushing monster trucks or watching Paw Patrol on TV, when he hears his mom’s phone alarm beep, Asher jumps to help prick the needle in his fingers.

While adjusting to Asher’s care at home, the Smiths can’t forget how they felt when he was born. To help other families, they self-published a book based on the journals they kept in the hospital. “We want parents to know that it’s okay to be sad, to feel overwhelmed, disappointed,” Kiersten says of the book, titled Getting (HI)gh: A History of Rare Disease and Getting Through the First Year.

Kiersten also felt isolated, not having friends who understood what she was going through. Soon after Asher was diagnosed, she joined Congenital Hyperinsulinism International, the group that Raskin of the Rare Disease Network started with a three-family e-mail list and built into a nonprofit with more than 1,300 members from 66 countries. Kiersten also uses Instagram to connect with parents all over the world, recently offering support to a mom from Spain whose 20-month-old son has a similar diagnosis to Asher’s.  

“There are things doctors can’t help with,” De Leon-Crutchlow says. “Meeting other families provides a glimpse of what’s possible for their child; it gives them a sense of their child’s future.”

Asher recently reached a major milestone—he’ll be able to start preschool next year—but he still has a long road ahead. What’s left of his pancreas won’t make enough insulin for his growing body, so he will eventually become diabetic. As the Smiths navigate the new terrain of school, they’re writing a second book about raising a child with a rare disease. 

“Even though there are a lot of bad days, there are a lot of good days too,” says Kiersten, who works two jobs while pursuing a business degree with the goal of opening a daycare center for medically fragile children. “I think having people immersed into our experience will really help them.”

Cooper Grossman, 18, at a fundraiser for Kleine-Levin Syndrome in Short Hills. Photo courtesy of Jenny Grossman

ROBBED OF TIME

Imagine going to bed and waking up more than a week later—over and over again. You’ve missed 50 days of work or school, Thanksgiving and a planned trip to Florida. What sounds like a disturbing dream actually happened to Livingston teen Cooper Grossman. 

Cooper, 18, suffers from a rare disease called Kleine-Levin Syndrome, a neurological disorder characterized by prolonged episodes of sleep, often 18-20 hours a day for weeks at a time. Those with KLS—which has no known cause or cure—wake up in a zombie-like state, only to use the bathroom and eat. When the episode ends, they have no memory of it and appear to be in perfect health. 

“It’s a nightmare,” says Cooper’s mom, Jenny Grossman. “It’s an awful disease. It comes when it wants, it leaves when it wants. It robs people of weeks and weeks of time…. The only silver lining is that he doesn’t have a memory of it. I say it’s God’s way of protecting him from reliving the nightmare.”

For Cooper, it all began during a winter 2017 trip to Florida with his family. Cooper, who usually can’t wait to hit the pool, went straight to bed. After a long nap, he drowsily made it to a lounge chair at the pool, then fell back asleep. When the athletic teen attempted to shoot hoops, he could barely aim for the basket. He went back to sleep, his slumber stretching longer, up to 20 hours a day. 

After a difficult trip back to New Jersey, Cooper’s parents took him to Saint Barnabas Medical Center in Livingston, where pediatricians, infectious-disease specialists and psychologists performed a battery of tests. No one could figure out what was wrong. 

When Grossman tried to wake her son, he was angry and defiant. Pale, his pupils dilated, he held the walls for support as he crept downstairs to eat. When he spoke, Cooper’s voice was soft, childlike. “It’s scary, it’s almost like he was a shell of himself,” Grossman says. Cooper fully woke up 17 days later, unaware of what had happened.  

It was Cooper’s aunt, scouring the Internet, who found a disease that matched her nephew’s mysterious symptoms. Three weeks later, a neurologist in Manhattan diagnosed him with KLS, which afflicts only one in a million people worldwide. On average, it takes KLS patients four years to be diagnosed, their bizarre symptoms often mistaken for psychiatric or other sleep disorders. 

Jenny Grossman serves on the board of a foundation that raises money to support research into KLS, the disease that affects her son, Cooper. Photo by Joe Polillio

Cooper has had five subsequent episodes. While he’s asleep, his mother stays home. Grossman has sunk her energy into raising awareness and funding for KLS. 

“When Cooper was diagnosed, my husband and I said, ‘We have a choice. We can play this hand we’ve been dealt or we can fold,’” she says. “We’ve never given in to it. I’m trying my best, with every ounce of my being, to help find a cause and a cure.” 

She attends rare-disease conferences, networks with rare-disease experts and serves on the board of the Kleine-Levin Syndrome Foundation. She and the board have raised almost $300,000. Every penny goes to the Center for Narcolepsy at Stanford University, which has been trying to hire a KLS researcher for almost a year. “Nobody wants to work on it,” Grossman says. “Being so rare, it doesn’t get the notoriety.”

Meanwhile, when Cooper isn’t having an episode, he endeavors to lead a normal life. He plays soccer, goes to concerts with his friends and drives. With his doctor’s permission, he’s gone to sleepaway camp and taken a trip to Europe. There’s a 48-hour window when he experiences signs of an impending episode. He has learned to speak up when he feels one coming on.

It’s been more than a year since Cooper’s last episode, but given the statistics, he’ll most likely have another. It takes an average of 10 years to outgrow KLS—if at all. “Living with the fear that it’s going to happen is torture, but Cooper lives his life to the fullest, even though everything is an unknown,” Grossman says. “I want to find a cure, not just for Cooper, but for everyone afflicted with this disease.” 

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LOBBYING TO SAVE LIVES

Kristen Smith is in a lifelong battle with SMA, a genetic disorder that destroys the control of muscle movement. Despite her affliction, she works as a portrait artist and lobbies on behalf of a local patient-advocacy group. Photo by Joe Polillio

As Kristen Smith, 34, maneuvered her wheelchair to the podium to testify before New Jersey legislators in Trenton earlier this year, her heart raced and her hands shook. But she forged ahead with her mission to improve the lives of those living with her rare disease. 

Since childhood, Smith has lived with spinal muscular atrophy (SMA), a degenerative genetic disorder that destroys the control of muscle movement. Diagnosed at age 3 (after two years of doctor visits), she fell a lot as a toddler, lacked coordination and tired easily. Until recently, treatment didn’t exist for SMA, so Smith’s condition rapidly worsened. At 13, she had spinal-fusion surgery after atrophying muscles caused severe scoliosis. Since then, Smith hasn’t been able to stand or lift her arms over her head. Swallowing has become a challenge, and weakened pulmonary muscles have led to months-long hospital stays for pneumonia. Around-the-clock caregivers help Smith with everything from getting out of bed to cooking meals.

“SMA destroys motor neurons, so the nerves can’t tell the muscles what to do and muscles atrophy away,” says Smith, a former teacher, who despite weakened hand muscles, works as a portrait artist in her Green Brook home. “You regress so rapidly without treatment, and I’ve had a lifetime of regression.”

But under a bill already passed by the state Assembly and awaiting action in the Senate, newborns could be screened for the most common type of SMA, allowing for earlier treatment and slower progression of the disease, which affects approximately 1 in 10,000 babies. 

Smith has a milder type of SMA, but about 60 percent of patients have a more severe type that often results in premature death if not treated. The pending legislation would add SMA to the newborn panel, which screens all babies for various genetic disorders. Each state health department decides which disorders to include on its panel. New Jersey tests for 57 conditions.

“This is a degenerative disease, so time is of the essence,” says Smith, who lobbies on behalf of the Northern New Jersey chapter of CureSMA, a patient-advocacy group. 

Identifying SMA early—even prenatally—can mean the difference between walking or not, even life or death, says Dr. Punita Gupta, chief of genetics at St. Joseph’s Children’s Hospital in Paterson. In fact, a gene therapy for SMA, recently approved by the FDA, can cure the condition if given to patients within days or a few weeks after birth. “An accurate and timely diagnosis can change the entire life of a patient,” says Gupta.

Smith’s story illustrates the obstacles rare-disease patients face in pursuing health-insurance coverage for their treatments. She spent two years pursuing coverage for Spinraza, an FDA-approved SMA treatment that costs $125,000 per injection and is administered every four months through a complicated spinal procedure. She began receiving treatments in January and has since regained use of her triceps; for the first time in five years, she can extend her arm. But a new hurdle has forced her to stop treatment. She can’t afford the $160 a day to rent a handicapped-accessible van to transport her to the hospital for her treatments.

Controlling out-of-pocket treatment costs is a constant struggle for rare-disease patients. Some relief in New Jersey could come from proposed legislation known as the cap-the-copay bill. The measure would require health plans governed by the state to limit per-month prescription costs to $100–$200, depending on the plan. The cap kicks in before the deductible is met, allowing patients to spread out payments rather than spending so much up front, says Steve Butterfield of the Leukemia and Lymphoma Society, which lobbies on behalf of rare-disease patients.

For Smith, passing the newborn-screening bill is top priority. She calls legislators, speaks at rare-disease conferences, and posts on social media to promote the legislation. “I’m advocating for those in my community who don’t have a voice,” she says. 

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WHEN FOOD IS THE ENEMY

Isabella Valeo, 17, is hungry all the time. She can’t help it. 

The Toms River teen suffers from Prader-Willi Syndrome, a rare, incurable genetic disorder in which chronic feelings of insatiable hunger—plus a slowed metabolism and low muscle tone—can lead to excessive eating and life-threatening obesity. Many PWS sufferers seek out food in extreme ways, such as digging through the garbage, lying and stealing.

“Her brain is missing the shut-off valve that tells her she’s full,” says Isabella’s mother, Heather Valeo. “She can eat a full plate of food, and she understands that she ate it, but she physically feels hungry.”

Isabella must stick to a diet of up to 1,100 calories a day to maintain a healthy weight of 133 pounds. Valeo and her husband, Rich, track everything Isabella eats, lock the pantry, and have installed cameras in their kitchen. Those with PWS require a carefully designed diet because their bodies have less muscle and burn fewer calories. PWS is also characterized by cognitive and behavioral problems. 

“Gaining 2 pounds for her is like gaining 10 pounds for us, and it’s much harder for her to lose weight,” Valeo says of the disease, which affects 1 in 12,000–15,000 people in the United States. 

Isabella eats a cup of cereal for breakfast, a salad for lunch, and a protein, vegetable and salad for dinner. If the family eats dinner at a restaurant, Isabella gives up her two small snacks. Some parents can’t manage such a strict regimen, and as a result, many who have the disease are severely obese. PWS is the most common genetic cause of obesity, according to the Prader-Willi Syndrome Association.

For Isabella, grabbing lunch at Panera or baking cookies with her sisters deteriorates into a yelling match. “When you feel hungry and you can’t eat and everybody else is eating, it’s got to be horrible,” Valeo says.

Isabella’s diet is just one piece of the puzzle. She attends a special-needs school and requires a long list of services, including occupational and speech therapy and social-skills training. A former mortgage underwriter, Valeo left her job to care for her three daughters and learn to navigate the resources Isabella requires, including visits to the geneticist, pediatric endocrinologist, social worker and so on. While shuttling from specialist to specialist is a way of life for some, Isabella sees all of her doctors on one day at the Prader-Willi Center at St. Joseph’s Children’s Hospital, one of the hospital’s five such multispecialty clinics, each focusing on a different rare disease.

“A lot of rare diseases are very complicated; parents are learning how to care for their child and searching for answers, going from doctor to doctor,” says Gupta, at St. Joseph’s. “These clinics allow for myself and the other doctors to examine and discuss patients at the same time, instead of reports between specialists going back and forth over a long period of time.”

Patients of similar ages are scheduled on the same day and have lunch together so they can connect. Valeo now helps mentor families there and serves on her school district’s special-education PTA and on the Statewide Parent Advocacy Network. She returned to work in 2008, now at an autism behavioral-services company, helping connect children with services. 

“I learned how to become a really good advocate for my daughter, and I want to give back,” she says. “It all goes back to Isabella. She’s a pretty amazing girl. Her disability overshadows her a lot and doesn’t allow her to be her best self. There are many people along the way who have helped her be her best self. We’re so thankful for that.”

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