If a single disease affected 30 million people in the U.S., or nearly one in 10 Americans, there would surely be vast research, pharmaceutical trials and public awareness on the subject. But families affected by nearly 7,000 rare diseases and disorders – which, individually affect fewer than 200,000 Americans each, but together approach the 30 million mark – often feel isolated and ignored.
“These families often struggle to even get a diagnosis because the information on rare diseases just isn’t there, and pharmaceutical companies aren’t really interested in using their money to discover and research drugs for these disorders because the profits just aren’t there,” says Barb Calhoun, nurse practitioner and outreach coordinator for the Boler-Parseghian Center for Rare and Neglected Diseases at the University of Notre Dame.
To mark Rare Disease Day 2017, observed February 28 worldwide, Indy’s Child asked local parents what they want you to understand about raising a child with an uncommon illness.
We have to be the experts on our child’s condition
Because so little is known about some rare conditions, parents often find themselves thrust into the role of being the preeminent authority on every aspect of their child’s disorder.
“I think what frustrates me most about having a child with a rare condition is that we, as parents, are the experts,” says Indianapolis mom Meredith Howell, whose daughter Lola, 6, is one of only about 40 people worldwide diagnosed with the rare genetic condition Bosch Boonstra Schaaf optic atrophy syndrome. “We rely on the experts for each ‘symptom’ of Lola’s condition – visual impairment, epilepsy and global delays – but we really are the ones putting the puzzle of her condition together.”
This may mean that when you hear updates about their child’s progress it may sound more like a medical seminar than simple coffee talk, but please keep asking, these parents say. Ask them to explain things you don’t understand and celebrate even the smallest milestones along with them.
Don’t be afraid to ask us questions
Although these parents may have to explain their child’s condition to multiple people a day, they’d rather be talked to than simply talked about.
“It is okay to ask questions, and we prefer it to just staring,” says Myriam Serrano, an Indianapolis mom whose daughter, Annalise, 1, has lissencephaly, a disorder marked by an absence of brain folds and grooves, which affects neural and mental development. “I appreciate when people ask about her condition or her G-tube, and I love to share her story. It is frustrating to have people stare or whisper rather than just come talk to us and meet Annalise.”
Social media is our community
When you’re the parent of a child with a rare disorder, you don’t exactly find other families dealing with the same condition down the street or even in the same state. Facebook is a crucial connection for these parents.
“About three months after Emmett got his diagnosis, I received an email from another parent of a child with Xia-Gibbs Syndrome, and it was like a weight had been lifted,” recalls Arika E., of Anderson, whose son, age 4, is one of only 35 people in the world known to have the genetic mutation. “We decided to start a private group on Facebook, and we have around 30 families from all around the world. We share the good times and the bad. We ask each other questions and give advice. It is nice to know that we are not alone in this journey.”
It’s important to respect that these online connections are important, parents say, but also know that your in-person friendship is important to them, too.
Our kids are still just kids
Between meeting with doctors, specialists and multiple therapists who often aren’t local, parents of children with rare disorders may not have a lot of free time, but that doesn’t mean they want to be left out of birthday parties and playdates.
“We’re still out here! That’s probably the biggest thing I want people to know,” says Natalie Brenneman, a Plainfield mom whose son, Evan, 1, has Prader-Willi syndrome, a complex genetic condition that causes weak muscle tone in infancy and, later, constant hunger. “I tell people, ‘Please still invite us to playdates,’ because having a child with a rare disorder can be kind of isolating.”
Indianapolis mom Sierra Watson, whose son, Owen, 2, has a rare chromosomal anomaly called trisomy 9 mosaic, adds, “My child is a child first. We want to be treated normally and we want our children to be treated as such. We may not be able to go out for coffee or dinner every time you ask, but we still want to be asked.”
Despite the many unknowns, we just want our child to be happy
It’s difficult not to have a roadmap of how your child’s condition will shape their future, but these parents want to live in the present, too, and they need friends to support them where they are.
“The most challenging part is the unknown. Everyone asks about life expectancy, and I just don’t know,” says Laura Fuquay, of Fishers, whose 7-year-old son Austin is missing a large piece of his fourth chromosome, causing him to be deaf, nearly blind and nonverbal. The family has yet to find anyone with the exact same deletion. “As we don’t know anything about his potential, our goal is to make him the best Austin he can be and let him define what that is. We just want to give him the best life we can afford, and we feel blessed to have him in our lives.”
For more information on Rare Disease Day and to see events near you, visit www.rarediseaseday.org.