In early 2017, Ashly’s son Connor was diagnosed with a rare genetic disorder called Hunter syndrome that affects only 500 people in the U.S. Almost all are young boys like Connor, who was four when he was diagnosed.
Children with Hunter syndrome are missing an enzyme that prevents harmful molecules from building up in the body. It causes developmental delays and, even with treatment, it’s fatal. Life expectancy for patients with Hunter syndrome is 10 to 20 years old.
Ashly is active in pushing for new treatments in any way she can, including contributing Connor’s de-identified medical records to AllStripes to accelerate research on the condition. Accessing data from patients of rare diseases like Hunter syndrome is critical to help researchers learn about the condition, and design faster and more effective trials for treatments.
“Anything like AllStripes that can help shed light and bring more treatment options for others I’ll do,” Ashly said. “I need to fight for my son in every way I can.”
She admits she was intimidated at first to contribute his medical records. “But then you start thinking, ‘It’s my son’s life.’ My daughter could be a carrier so we might be protecting my future grandson too.”
A long road to diagnosis
When Connor was three, he began experiencing some hearing loss. He had been a late walker and talker, but his pediatrician wasn’t concerned yet since toddlers often have variation in when they hit milestones.
At four, potty training was a huge challenge. Connor’s stomach was often irritated so his family began taking him to a gastroenterologist.
“The doctors weren’t seeing it as a whole,” said Ashly. “They were looking at their specialty, no one was putting it all together.”
The GI doctor ultimately suggested an X-ray and saw Connor had an enlarged liver and spleen. After putting those symptoms into Google, Hunter syndrome came up, but the doctor tried to downplay the possibility given how rare the condition is.
“We went home and started looking up this diagnosis ourselves ... the kids look just like my son, he hit every single symptom,” Ashly said.
“We broke down, we said this is what he has. My son is going to die.”
Finding a path forward
The family had to become medical experts on Hunter fast, and be organized to get all the medical care needed. Ashly had to cut back her hours, to take on what she calls her third job.
“I have my work job, I’m a mom and then taking care of a special needs child is a third job,” she said.
The family was able to start Connor on a treatment designed to replace the missing enzyme in Connor’s body. A clinical study has shown it significantly increase patients’ ability to walk. Hunter syndrome patients on the drug typically receive weekly infusions.
For Connor, the infusions have helped stabilize his development, meaning it has plateaued but not regressed further. Within the first month they saw inflammation in his stomach went down and his attention was better.
Connor is able to attend school, and like many seven-year-olds, he loves cars, watching TV and doing cannonballs into the pool on summer days.
The family has found a rhythm, but the threat to Connor’s health is still very real and they want to see more progress toward a cure and better treatments now.
As for Ashly, she’s found a network of support among other families with children who have Hunter syndrome and by taking care of her own health.
“I do see a counselor, I’m on medication ... I have another child to think about so you can’t just curl up and live under a rock,” she said. She and her husband have moved out of the stage of not being able to eat or sleep, and she was graced with a moment of peace that she holds on to.
“I’m not super religious, but some peace came over me,” Ashly said. “Something came over me that we are going to be ok.”