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.
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.”
Welcome to Holland
When Bailey Nelson thinks about the future for her daughter, Brinkley, she has an unusual goal: Driving a car.
“It's a hard balance to be realistic about it, but I also don't want to hold her back from anything,” Bailey says. “We try and let her do whatever she's interested in, and just see where that takes her.”
When Brinkley, now 3, was born, she showed no evidence of anything abnormal, although her parents thought she looked “like an old man.” But when she wasn't meeting developmental milestones at around six months, Bailey and Andrew took her to a geneticist. And just a few weeks shy of Brinkley's first birthday, they finally received a diagnosis.
“It was scary,” Bailey says. “It's shocking to know that it really could happen to you.”
Brinkley has Williams syndrome, a chromosomal deletion that affects 20,000-30,000 people in the United States. The Nelsons were handed a brochure (“it looked like it was from the 1990s,” Bailey says) and a few technical printouts about a disease they had never heard of. When they got home and started browsing the internet, they realized that Brinkley's “old man” features were actually a sign of the disorder–those with Williams syndrome tend to have “elfin” facial features.
In addition to developmental challenges, people with Williams syndrome often have heart problems that require surgery, and they're frequently described as having “highly social personalities.” The Nelsons say that in Brinkley's case, it more often manifests as being a “child of extremes.” They worry that her sweet personality could be a target as she grows, so they're teaching her about appropriate social interactions now.
Since Williams syndrome is so rare, there's not a lot of information about what they can expect as Brinkley grows. It also means that the smallest accomplishment – whether riding a bike, playing soccer, or even crawling – is that much of a bigger deal to her parents.
Bailey likens their life with Brinkley to a poem she read after her daughter's diagnosis. The poem tells the story of a family that plans an amazing trip to France and gets on the airplane, only to hear the announcement upon landing, “Welcome to Holland.” And although it's not at all what was planned for, they come to realize that Holland has great things to offer, too.
“The biggest thing I can say is stay positive,” Andrew says.
“It's easier said than done, but go with the attitude of `it could be worse, and it's going to get better.' That's basically our attitude toward the whole thing.”
Although Williams syndrome is a genetic condition and there is a chance that their second child, a boy due in August, could have it, the Nelsons decided not to test for it. After all, they've become used to their “new normal” in the years since Brinkley was diagnosed.
“For us, it would be like testing if he has brown eyes or green eyes,” Bailey says. “It doesn't really matter until he's here anyway.”
For the past two years, the Nelsons have organized the Rockford Walk for Williams as a way to raise awareness and funding, and also to bring together the families who are affected by the condition. But Bailey and Andrew have another reason behind setting up such an event, and it's much more personal.
“I want her to know that she's special,” Bailey says. “It makes her different, and I think being different is awesome.”
Katie Thorstenson's happiest moments are when all four members of her family are under the same roof. That's because not so long ago, she wasn't sure if that would ever be the case again, as her younger son, Drew, struggled for his life at Lurie Children's Hospital.
Drew, now 2, has Noonan syndrome, a genetic disorder that affects 1 in 1,000-2,500 births and impacts multiple body systems, including the heart. When he was just two months old, he went in for a routine echocardiogram and the radiologist saw fluid surrounding his lungs. Drew was admitted to the hospital and spent the next 93 days there–including seven days on ECMO, a heart and lung machine.
“The doctors had pulled me into a room and told me it might be time to accept this,” Katie says. “He wasn't going to make it.”
But remarkably, Drew pulled through and was able to return to their Wauconda home when he was nearly five months old.
Katie was 12 weeks pregnant with Drew when she and her husband, Scott, found out something was “drastically wrong” with the baby. It took seven more weeks to find out exactly what that was.
Their older son, Jake, 6, was born perfectly healthy, and at first it seemed like Drew had missed the worst of Noonan syndrome. He was born at a healthy 8 pounds, 11 ounces, but once he got home he had failure to thrive – common with the syndrome – and eventually had to have a feeding tube.
Individuals with Noonan syndrome tend to have certain facial features, such as wide-set eyes and low-set ears, but the largest indication in Drew's case still is his small stature. He's not on any height charts, and strangers rarely realize that he's already 2.
Once you see his wicked golf swing (his parents think he's the next Tiger) or watch him wrestle with his big brother, it's clear that he's a pretty typical toddler. And Katie hopes that continues to be the case as he gets older.
“My big fear with this whole thing is that I don't want it to define him,” she says. “Maybe he just wants to be like every other kid.”
But although things now look positive for Drew, his parents don't want to forget that dark time when they thought they might lose their son.
“We made the choice of having kids, and this was something out of our control that we were dealt,” Scott says. “Whatever happens, happens. You really have to lean on each other in those instances when the outcome may not be in your favor.”
They're supporting other families with Noonan syndrome, both through the 5K race they started and Katie's work on the board of the Noonan Syndrome Foundation. Their message? Fight for your child. You never know what you can accomplish until you're forced to do it.
“I have the good story,” Katie says. “He might have challenges down the road, so I don't want to be naïve to that, but at the end of the day, we live in the now.”
Elizabeth Diffin is the senior editor at Chicago Parent. She lives in Wheaton.
See more of Elizabeth's stories here.
Let us plan your weekend with the best family events and activities in Chicagoland.
Start the week right with deals, prizes, parent life hacks and more delivered straight to your inbox.
Need last-minute ideas for a weekend of family fun? No worries. We've got you.
Get the inside scoop on the people, places and things we are loving right now.
Resources, tips, inspiration and more for parents of children with special needs.
Score exclusive offers from our fabulous advertisers.