Having a child diagnosed with cancer or a life-threatening disorder is devastating. I’d always believed that if something happened to my child, I would have a team of doctors and experts, multiple treatment options and enough information at my disposal to feel equipped for the terrifying journey ahead. But what if that condition is so rare that only a handful of families have received the same diagnosis? Families in that position have to do most of the heavy lifting on their own.
“I wish I had a one-pager. There are so many things I wish I would have known day one. If another family received the same diagnosis as our daughter, I will share everything I know,” said Zack Mertz. Mertz and his wife Lindsay’s 7-year-old daughter, Maddison, was diagnosed in November with a tumor inside her spinal cord and Stage IV Glioblastoma Multiforme, or GBM, after experiencing headaches, a stiff neck and tingling in her right arm that they assumed was a pinched nerve from gymnastics.
Gwen and Scott Hartley’s daughters Claire and Lola were born, separately, with a host of conditions and the Hartleys were told the girls would not live a year. After recent genetic testing, the family was finally given an official diagnosis, which they had waited 15 years to receive. The girls have Asparagine Synthetase Deficiency, an extremely rare neuro-metabolic spectrum disorder that causes symptoms including cerebral palsy, epilepsy, seizures, dwarfism and microcephaly. The Hartley girls have them all.
Within hours of receiving the news, both families realized that if they wanted support, they would need to build networks themselves.
“You have to be your own advocate,” Zack Mertz said. “Doctors do a terrible job of delivering news. They give you the diagnosis, mortality rates and offer standard treatment options. That’s it.”
The Hartleys’ experience was similar. “We immediately went to meet a neurologist who basically told us to put Claire on medication to help control her seizures until she died,” Gwen Hartley said. “His focus was on helping me find a way to have a healthy baby and I was holding her and looking at him like, ‘But what about the baby I have right now? I need you to help her.’”
Instead of retreating into the darkness, these families and thousands like them are doing their part to create networks to help others.
“I was told by another special needs mom, ‘If you build it, they will come,’ and so I did,” Hartley said of her blog, thehartleyhooligans.com. It is where she shares treatment options, informational websites and links to studies and articles that helped them along the way. She has documented years of work so another family will have somewhere to start.
More than that, Hartley says, “we offer hope at a time when you can feel completely hopeless,” something none of these families felt they’d initially received.
“I know there are people out there working on finding cures for rare conditions. But as a parent of a sick child, you have to find these people on your own,” Mertz said.
Darren Scott’s 5-year-old daughter, Sophia, was born with Sanfilippo syndrome — nicknamed childhood Alzheimer’s. “When Sophia was diagnosed, we were told there was no hope, no treatment options, and that we should just take lots of photos,” he said.
Instead of taking their doctors’ advice, though, these families decided to fight. They took their stories public to raise awareness and get answers. They joined Yahoo groups, created Facebook pages, held fundraisers and started Go Fund Me pages to garner media attention. They found online communities and forums full of people in similar situations from across the world.
“It is like a spider web,” Mertz said.
Hartley agreed, saying, “It was these veteran special needs mommies that I met early on who, quite simply, kept me afloat. My online community was my lifeline.”
These groups provide valuable information and options for those who believe theirs are limited. They include families and patients sharing their experiences with potential treatments and therapies.
“When I left that first appointment, I said to myself, ‘I am going to do exact opposite of what this guy is telling me,’” Gwen Hartley said. “We’ve tried alternative medicine, supplements, organic diets, applied kinesiology, goats’ milk formula. That baby he said wouldn’t live a year? She’s 15 now. Doctors are amazing and share with you what they know. But they don’t know everything.”
The Mertz family is spending the next six weeks in Canada trying a treatment they learned about through connecting with a family online. The treatments have proven successful with certain types of cancer.
In addition to the emotional and physical toll of caring for a sick child, these families spend hours each week on the phone fighting insurance companies. They plan meals, often for highly specialized diets, care for other children, work, attend doctors’ appointments and manage the minutiae of raising children. After all that, they research treatment options and build their online networks.
“All of this comes at a great cost of time, pain and dedication to research,” Darren Scott said. “You want to spend as much time with your child as possible but on the other hand you also want to spend as much time creating awareness, fighting the condition and fundraising so your child and others have hope of a life that was written off.”
The Hartleys’ advice to parents in similar situations?
“Deal in ‘inch-stones’ not milestones. This changes the dynamic. When I was gloom and doom in the beginning, Claire was sick a lot,” Gwen Hartley said. “When I shifted, so did she. My best advice would be to love the baby you have been given and fight for them.”
Zack Mertz agrees.
“There is hope,” he said. “Don’t give up. Trust your instincts and do your research. No one knows your kid better than you.”
Although it can feel isolating, they all say do not get discouraged.
“After diagnosis, don’t try to find a child who is exactly like yours so that you can figure out what the future holds for your child,” Hartley said. “That child/reality doesn’t exist. Your child won’t fit into any box. They won’t be exactly like someone else’s child.”
Julie Scagell is a freelance writer and mom based in Minnesota. Find her on Twitter @74AMB.
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