Finding Beauty: A Family’s Journey with MPS II

So, they got to work making the house their own – installing flooring and carpeting, refinishing the basement, and updating kitchen appliances. They created the ideal place for their two sons, Sawyer and Daxton, to live and grow together. 

The acreage provided plenty of space for the boys to do what they like best. Cory describes Sawyer as her “wanderlust boy,” moving freely and going with the flow. Daxton is her “very active boy,” with lots of energy and a desire to climb and explore. 

Amazingly, Sawyer, now 6, and Daxton, now 4, were born on the same date in January, exactly two years apart. But their parents recognize and love their differences and what makes each unique. What Cory and Jason didn’t realize at that time was that the boys had another similarity, and the realization would change their entire world.

 Sawyer and Daxton are both living with a rare genetic disorder called MPS II, or Hunter syndrome, which causes progressive damage to multiple organs and the brain. Cory and Jason would learn that children with the severe type of the disease typically only live for 10 to 20 years.  

A Devastating Blow

 What can make Hunter syndrome challenging to diagnose is how difficult it is to detect early, particularly in states that don’t currently test for it through newborn screening. Babies born with Hunter syndrome show few – if any – signs of the disease initially. 

 As Sawyer grew from an infant to a toddler, Cory noticed characteristics that concerned her. His head seemed larger than normal, which doctors assured her would likely correct itself over time. But still, her “mama’s instinct” kept her on high alert. 

 One night, when Sawyer was 2, Cory was lying in bed with him, and running her fingers through his hair as he fell asleep. She had done this countless times but, on this occasion, she felt a protruding ridge down the center of Sawyer’s forehead that she hadn’t noticed before. She and Jason discussed her concern and quickly made a doctor’s appointment with the boys’ new pediatrician. 

“The doctor shared with me that she thought that he had a lysosomal storage disorder, and she explained all of the features that she was seeing in his face,” Cory explains. Sawyer’s eyes and nose were wider set, he had plumper lips and cheeks, and a larger head, hallmark signs of MPS II. “And because I had Daxton with us,” Cory recalls, “(the doctor) looked at him and said, ‘I kind of see it in him, too.’” This prompted the doctor to refer them to a geneticist. 

“It felt like eons for the official diagnosis to come,” says Cory. “One thing that really got me was that the boys had had their newborn screenings. And so, I thought at the time, ‘Well, they had their newborn screenings, and everything came back clean slate. This must be a mistake or something. But that's not the case, because not everything's on newborn screening.’" 

At the geneticist, the boys underwent blood and urine tests. When the results came back, the pediatrician’s suspicion was confirmed. Both boys were diagnosed with Hunter syndrome.

 Generally, there are two types of MPS II: Attenuated MPS II, in which the disease progresses slowly, with minimal or no impact on the brain or on intellectual development; and neuronopathic MPS II, the more severe form of the disease, which has a faster rate of progression and a significant impact on the brain and intellectual development. 

 “They have the severe type,” Cory explains of her two boys. “And now more time tells us they actually have the more severe of the severe type.” 

While Cory and Jason now had answers, the diagnosis was devastating. Neuronopathic MPS II is a progressive, life-threatening rare disease with no cure. There was a good deal to learn and process about their new reality.  

Jason remembers receiving the news at the doctor’s office. As the people in the room introduced themselves, he was curious about why a counselor was in attendance. One gut-wrenching question stuck in his mind. “What is the life expectancy for boys with MPS II?” Jason recalls asking more than once. The reply was frustrating: “It is hard to say exactly.”  

Not long after receiving the diagnosis, Jason woke up in the middle of the night and got on his phone to do his own research. “At that time, I remember thinking to myself, it’s going to be okay,” he shares, “but I broke down and just bawled my eyes out that night.” 

The Cycle of Joy and Grief

 Boys with neuronopathic MPS II not only have delays in speech and motor skills, but over time they can lose the skills they’ve gained. Sawyer used to sing and laugh and call out for his “Mom,” but now does not speak. 

 “He probably had a vocabulary of about 130 words, and he’s lost them all,” Cory explains. The words and abilities slipped away quickly for Sawyer, with a significant regression occurring when he was about 4 and a half years old. 

 “Within months he stopped speaking completely,” Jason recalls. “He stopped being able to move and his fine motor skills weren’t as good.” 

 As the family has adjusted to life with Hunter syndrome, they’ve made additional home modifications to keep the boys safe. Cory and Jason have installed gates and child-proofed doorknobs. Sawyer has a bed that zips closed to keep him inside. Jason has taken a job that allows him to work from home, while Cory has stopped working to be full-time caregiver for both boys.  

The ability to have more time together as a family is something for which Cory and Jason are immensely grateful. But the difficult moments also bring on intense emotion. Cory is explicit about how those moments can feel when they surface: “To grieve somebody who is still present is the most unreal thing,” she says. “I picture him (Sawyer) gone. He’s not gone. But that’s what you think about.” 

 Daxton has been on a different journey than his brother. He was a baby at the time of the MPS II diagnosis. Both boys currently undergo treatment with enzyme replacement therapy, which is meant to slow the progression of the disease. While Daxton is delayed compared to an unaffected child, he has benefitted from earlier intervention. 

 Cory shares that Daxton “has pretty good dexterity in his hands, can color, and can stack blocks well,” skills that Sawyer once had but has since lost. Daxton’s most significant delays are in his speech, as he’s only able to say a few words. The difference between the brothers demonstrates how important early diagnosis and treatment are. But the continued struggles of both demonstrate that better options are needed for Hunter families. 

Gratitude, Hope, and Beauty 

Cory and Jason are committed to living each day with gratitude and maintain hope that better treatments will one day be available, so that improved outcomes are possible for children born with MPS II. They see the challenges, but they also see the possibilities, just like they did

when they first set foot in their new home. 

 “It’s really great to have a partner in this and remind ourselves of that initial goal: that we're trying to be in the present moment, give our kids the best life they can possibly have, and maintain a positive mindset while doing that,” comments Jason. 

 Cory and Jason have also become involved in advocacy and support groups for MPS families and caregivers, which has given them the opportunity to connect with others who have similar experiences.

 Cory notes how important those connections are and wants newly diagnosed families to know they are not alone. “While this life looks completely different than what you originally imagined, there really is truly beauty in it as well,” she explains with a smile. “You just have to be open-minded to seeing it.”