Enzyme Replacement Therapy Gives Joe a Lifetime of Opportunity
As one of only a few kids in Minnesota with Morquio A syndrome, Joe is already a unique 12 year old. But what makes Joe such a special boy goes far beyond his medical diagnosis – as a great student and inventor, he has big plans for his future that can come to fruition thanks to his weekly enzyme replacement therapy from PHS.
Treatment comes home
When doctors discovered significant bone abnormalities and diagnosed Joe with Morquio A just before his 5th birthday, he started flying to Chicago with his family almost immediately to see a specialist with a more extensive knowledge of the diagnosis.
“Once Joe got into a study with the drug company providing enzyme replacement medication, we were travelling to Chicago every week,” remembers his mom Karin. “Looking back, I don’t know how we did it. Because we had to, I suppose.”
After completing the study, Joe began receiving infusion therapy from PHS in 2013 to replace the enzyme his body didn’t produce naturally – meaning he would no longer need to miss an entire day of school each week or forego involvement in activities due to his travelling.
A student, inventor, artist
With more time at home and school, Joe keeps busy with a few hobbies… to put it lightly.
“I’m in a Lego robotics league, where you program robots and do a presentation about how to solve a problem,” he explains. “They come over every Thursday to work on it. I’ve also already invented something – spatula tongs.”
Although he can’t participate in contact sports due to spinal restrictions, Joe finds plenty of things he can do, from painting and drawing to playing games like Dungeons & Dragons with his infusion nurse Kate who has been coming out every week for over two years. But don’t ask him to choose a favorite subject in school – they’re all the best to him.
“He just has such a great attitude,” says Karin. “I get a lot of comments about what an incredible boy he is, asking how I pulled that off — but I don’t think I can take responsibility for the boy he’s become. Certainly there are things he can’t do, but there are an infinite number of things he can do and opportunities to pursue – and that’s just how we roll.”
Lifelong goals
Enzyme replacement therapy is an infusion patients will receive their entire life, requiring long-term goal setting and considerations for care from both the family and the infusion provider.
“Because he’ll need this for the rest of his life, I want to make it as seamless for him and make it work into his schedule as easily as possible,” says Kate. “Having the continuity of one nurse is really important for us and for the family, because it takes time for Joe to develop that trust. And I‘m so fortunate to be his nurse because I get to follow his journey as he gets older. He’s so smart, so I’m really curious to see how his future unfolds.”
Enzyme replacement therapy is a relatively new medication, so the long term impact on Joe isn’t yet known – but for right now, the results are nothing but positive.
“I wrote our Christmas card in October and said he’d grown over an inch since starting treatment, and I had to go back and edit it because he had grown another inch by December,” said Karin. “His goal for a long time was to be tall enough to go on rides, and he finally is.”
A future full of potential
Looking far into the future, Kate considers the potential for Joe to administer the enzyme replacement therapy himself if he’s interested – an option that will give him even more control over his care.
When Joe looks far into the future, it’s hard for him to pinpoint what he wants to be when he grows up. This boy with so many interests and talents wants to be “a lot of things” – and we’re certain he’ll excel in anything he pursues.
But for right now, Joe is just looking forward to sledding this winter after having had his sixth surgery in December.
Originally published: January 24, 2017