Chicago Parents Speak Out on Raising Children with Rare Disease

September 19, 2014

Imagine hearing that your child has a disease – and not only a disease, but something you’ve never heard of in your life. What would already be terrible news immediately gets complicated with confusion, fear and ignorance.

That’s the case for nearly 30 million Americans – individuals who have been diagnosed with rare disorders. While not all of these disorders are fatal, they usually impact health and long-term development. Plus, rare diseases – anything that affects fewer than 200,000 Americans – often touch children.

Fortunately, in the age of Facebook and other technological advancements, rare disease families have been able to find each other and share their experiences, something Mary Dunkle, the vice president of communications for the National Organization for Rare Disorders, calls “a total game-changer.”

It can be difficult to understand the exact challenges these families face. So we talked to three Chicagoland families to get a glimpse into their everyday lives.

Never Give Up

On the day that her older brother Noah was diagnosed with a rare and terminal disease, Laine VanHoutan came marching into the dining room, chanting the words she had just heard from Dora the Explorer.

“Never give up! Never give in!”

Little did Laine know that those words would become her parents’ mantra as they have grappled with seeing not one, but two, of their children fall victim to Late Infantile Neuronal Ceroid Lipfuscinosis – also known as Batten disease.

Laine, eight-and-a-half, doesn’t march or chant anymore. In fact, she is totally nonverbal and immobile, although her parents say they can tell when she’s trying to smile or laugh. Her brother, Noah, 10, is the same, although he’s also lost his vision. Both of them were once happy, healthy kids, and now they aren’t expected to live past 12.

“That’s honestly the hardest part of this disease,” says mom Jen VanHoutan, “knowing that once upon a time, they were regular kids.”

Noah was about 3 when his parents noticed that their “early talker” started to mix up words or drop them out of sentences. Then there was the clumsiness, which Jen and her husband Tracy attributed to being a kid (and those pesky rubber-soled shoes). That is, until Noah took a “strange fall” one December when the family was decorating for Christmas. By the time Tracy got to him, Noah had stopped breathing. He went to the hospital by ambulance, but was released soon after. Exactly two weeks later, the same thing happened again, and this time, the doctors decided that both incidents had been seizures, although they weren’t sure why they had happened.

“To that point, there had never been a scarier moment in our lives,” Tracy says. “That didn’t last too long.”

For the next 16 months, the VanHoutans met with three neurologists and tried six different medications, but Noah’s seizures kept getting worse. Eventually they went to Duke University Hospital. After two weeks, they returned to their home in Downers Grove and put Noah on the ketogenic diet, which is often recommended for people who have seizures. And suddenly, Noah was a little better, bright-eyed, talking.

“We were ecstatic,” Tracy says.

But two weeks later, on St. Patrick’s Day 2009, they received the phone call that would change their lives forever.

“[The doctor] keeps telling us he’s sorry and to let him know what he can do,” Tracy says. “We go and look it up, and that’s when it hits you.”

Noah, just weeks shy of his fifth birthday at the time, had Batten disease, a progressive, neurological condition that causes mental impairment, seizures, and loss of sight and motor skills. It occurs in an estimated 2 to 4 of every 100,000 births in the United States. It is also genetic.

The genetic link is why Tracy and Jen decided to have their other two children, twins Laine and Emily, tested for the disease. But since the girls had shown none of Noah’s symptoms and were on-target developmentally, they never thought the test would come back positive.

On Aug. 17, five months to the day of Noah’s diagnosis, the VanHoutans found out that Laine, just 3, also had the disease.

“Going through it with Noah was hard,” Tracy says. “But then building up and being sure everything was OK, and then going through that with Laine again? That was a huge punch to the gut.”

But they remembered their determined little girl marching around the table and decided they would not give in.

“For every problem, there’s a solution, and we don’t ever feel like there isn’t one,” Tracy says.

That belief led to Tracy and his father-in-law getting on a plane to Germany to attend an international research conference on Batten disease. It allowed him to meet with doctors and researchers, to speak to advocacy groups, and to testify before the Food and Drug Administration on the need for clinical trials. And after a neighborhood garage sale brought in $9,000 in a single weekend, it brought about the formation of Noah’s Hope, an organization that helps raise awareness and funds for Batten disease.

“We felt that without hope, we could just spiral into this pit of despair,” Tracy says.

Noah’s Hope also works to tell Noah and Laine’s stories, since they can no longer speak for themselves, and encourages parents to tell their children’s stories to neighbors and friends, as well as legislators.

“Somebody’s got to be a voice,” Jen says. “Everyone has a story.”

Some recent setbacks in the clinical trial process mean that there still is not a cure for Batten disease. But the VanHoutans are absolutely confident there will be one soon–albeit too late for Noah or Laine.

A pillow that reads “hope,” sold as a fundraiser for their organization, sits in the VanHoutans’ dining room, near the table Laine once marched around. It speaks not only to their organization’s name, but to Tracy and Jen’s hopes for their children.

“I hope they’re not in pain,” Tracy says, a single tear running down his cheek. “I hope they still have dreams when they sleep. I hope in those dreams, they’re able to do all the things they used to be able to do. And I hope they know how much they mean to us and how hard we tried to save them.”

Read more at the source. 

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