Imagine your child is diagnosed with a rare neurological condition. So rare that there are only a handful of reported cases, and those are from halfway around the world.
This was the case for Chris and Kasey Edwards of Massachusetts and Kevin and Angela Duffy of Pennsylvania. Their daughters’, Robbie and Molly, are among only 11 children in the world to be diagnosed with an extremely rare genetic disorder, called spastic parapalegia-47 (SPG47).
“When they told us how rare this was, our minds were going in a thousand directions,” says Kasey, Robbie’s mom. “We didn’t know what to think.”
The two families thought they were all alone, until they found each other. And on a recent warm fall afternoon, these two adorable girls and their parents met in person for the first time at Boston Children’s Hospital, where they both receive care.
Although the girls’ parents had been anticipating the meeting for weeks, Robbie and Molly seemed oblivious to the fanfare surrounding them, as they played at a playroom kitchen set, busily side-by-side in matching jean jackets and pink sneakers.
“It’s great to finally meet. I still get chills thinking about it,” says Angela, Molly’s mom. “That we found Robbie’s family is just unbelievable to me.”
A chance online meeting
It’s been a long road for both families. They each received the SPG47 diagnosis after many months of searching for the cause of their daughters’ low muscle tone and developmental delays. Molly was diagnosed in January and Robbie in May.
As their parents struggled to come to terms with this difficult diagnosis, they attempted to learn all they could about this rare disorder. But because the condition is so new and the other nine patients live in the Middle East, they felt alone and frustrated by the lack of information.
Then, in August, a small miracle occurred on an online support group.
“I was reading through all of the posts for a related condition and saw one that said, ‘My daughter has SPG47,’” recalls Kasey. “I just stared at the screen. I thought it must be a typo.”
It wasn’t. When Kasey and her husband Chris reached out to Angela and Kevin Duffy, they learned that the Duffy’s daughter Molly had also been recently diagnosed. Their initial contact sparked a flurry of excited emails.
“The more we shared, the more striking we found the similarities between the girls,” says Kasey. “It was as if we were raising the same child. They were just about the same age, and despite their setbacks, both had the same easygoing, friendly personality. Molly even had the same little gold walker that Robbie used to use. It was uncanny.”
The emails led to phone calls and FaceTime sessions. It wasn’t long before they decided to all meet in person at Molly’s next appointment at Boston Children’s. They looked forward to meeting and getting to know each other better.
Keeping a positive outlook
Since her diagnosis, Robbie has been treated by Basil Darras, MD, a neurologist at Boston Children’s.
“Dr. Darras has been encouraging,” says Robbie’s mom, Kasey Edwards. “He’s given us hope for Robbie and that’s what we try to focus on.”
Darras says it’s important to remember that with a rare condition like SPG47 every case is different. “I try to reassure the parents because we actually don’t have enough information to say what will happen in individual patients. I think this might be a milder version than what we’ve read in the literature.”
He adds that the standard of care available in this country may also make a difference on how the girls do over time. “We don’t have a cure for this disease, but we do have many interventions, such as speech therapy, physical therapy and Botox injections to help relax the muscles. Because some of these treatments may not be available in other parts of the world, it’s possible that these interventions may help these girls have a much better developmental outcome.”
Hope for the future
Both families are determined to focus on the positive progress their girls have made and take each day as it comes.
“Therapy is absolutely helping Molly,” says Angela. “And since she started preschool in September her speech has exploded. Despite everything she’s been through, she’s just the happiest kid. She’s made us stay as positive as possible.”
Robbie also has a full therapy schedule, which has improved her gross motor skills. While she doesn’t have as many words as Molly, she has grown strong enough to walk on her own.
“She loves sports and walks around house with her older brother’s hockey stick,” says Kasey. “It’s been so interesting to meet Molly and compare their similarities and differences.”
The families still have their ups and downs, but now, when they have a concern or need support, they know where to turn.
“If I’m having a really hard day, I just want to reach out to Angela, because I know she understands,” says Kasey. “It’s so great to have that support. We’re building a friendship.”
Learn more about the Boston Children’s Department of Neurology.