Brianna and CJ’s house is full of activity, something one might expect in a house with three young boys – Silas who is 9, JJ who is 6, and Gabriel who is 1 year old. The family has a busy schedule. Both CJ and Brianna coach high school sports – football, wrestling, and lacrosse. When JJ and Gabriel are not tagging along to the practices, they attend kindergarten and daycare, respectively. An outside observer might never notice that both JJ and Gabriel, who are exactly five years apart to the day, have the same genetic disease – hyperphenylalaninemia, which is a variant of phenylketonuria, or PKU.
Learning JJ had PKU
All of their children, including Silas, had a newborn screen. Because the oldest – Silas – did not screen positive for any of the conditions on the newborn screening panel, the family did not hear anything more about his screen. They knew JJ also had a newborn screen, but they assumed that, like Silas, they would hear nothing or that everything was fine, but that was not the case. “I was like, why are the pediatric people calling me?” When Brianna heard that JJ’s newborn screen suggested he might have PKU “I freaked out. I was very sad and crying a lot.”
When they first heard about JJ potentially having PKU, they dove into “Dr. Google” where they read about “the rapid decline in cognitive abilities.” Thanks to JJ being caught within his first weeks of life due to his newborn screen, JJ did not have any decline in cognitive abilities. “I can’t image if that [the newborn screen] would have been something that was done months or years later, and figure out … he’s cognitively delayed … he’s not hitting these milestones and then to figure out he’s been dealing with a genetic disease for that long.” Instead, as a result of the newborn screen, JJ was quickly connected to care and prescribed medication to manage his PKU. CJ said, “Thank you for whoever put PKU on the newborn screen.”
Getting Connected to Care Early
CJ shared “I can remember being up at two o’clock in the morning, just on my computer, sitting out here in the living room, trying to figure out the best way that we’re gonna live with this and make it the best for our son that we possibly can.” However, once Brianna, CJ, and JJ were connected with Dr. Thomas, the metabolic specialist at Children’s Hospital Colorado, things got better. “She was awesome, she put our hearts at ease, held our hand, and wiped our tears. And she let us know things were gonna be just fine and manageable.”
JJ started his medication by the time he was two months old. When JJ was about two years old “his numbers plateaued on the medicine and stayed pretty constant, I think that’s when our hearts were like, okay, this is gonna work … If I’m completely honest, being PE and health teachers, and coaching three sports, my big concern was ‘how is my son going to gain weight? How is he gonna hold on to muscle mass?’ But, you know, following some of these groups out there on Facebook, you know blogs and what not … and people are posting their pictures of their high-school aged kids being normal athletes and it was, like, ‘okay, they can live a perfectly normal life. This is fine … we’re gonna be okay.’” JJ plays flag football, he wrestles, he plays lacrosse … “he’s a busy, busy bee.”
Cognitively, JJ is also excelling. “We were hoping to hold JJ back to be the older kid, but he tested too well” so now he is a younger kid in his classroom. “I’m convinced that this medicine makes their brains work better. Educationally, he’s ahead so we couldn’t keep him back.”
JJ’s younger brother, Gabriel, was also found to have PKU after an out-of-range newborn screen and was able to start his medication when he was just a week old. Starting treatment early “it helps your heart, it puts your heart at ease knowing you are doing what you need to do to give your child the best opportunities to succeed in life.” At one year old, Gabriel is crawling around and he pulls himself up onto things. “He’s trying to keep up with his brothers as best he can. … He says a lot of words. His favorite phrase is ‘no, no, no, no’.”
JJ likes knowing that he and Gabriel have each other as they navigate their PKU journeys together; as their parents put it, they are “teammate in this for their whole lives”.
The Importance of Newborn Screening
When asked what they wanted Wyoming families and community members to understand about newborn screening, Brianna said “that it doesn’t affect you until it does. If it doesn’t affect you then it doesn’t matter that you got it done because it is just a poke. The birthing process is probably more painful than a poke. You are not putting anything into your child. You’re just getting that poke out to make sure that they are going to be developmentally okay for the rest of their lives. To refuse [the newborn screen] seems kind of silly just for the fact that it could affect them for the rest of their life if you don’t get it done.” CJ added “Time is knowledge. This is an avenue to protect your child. You don’t want to learn it at six months that you could have been doing something for the last six months to protect your child.” Brianna went on to say “I didn’t even know what PKU was. We didn’t know we were carriers.”
CJ and Brianna ended with “Everything will be okay. Keep a smile on your face. God gave you the children for a reason. He didn’t pick anybody else.” As a result of the newborn screen, JJ and Gabriel will “live a normal life. They’re gonna be able to play sports, they’re gonna be able to hang out with friends, and at 16 they’re gonna back their car into the garage. It’ll be okay.”
If it weren’t for newborn screening, Brianna explained, “That’s the scary thing about PKU … when we were born, they didn’t have medication for it. People didn’t get diagnosed with it. They just slowly regressed over time, and people didn’t know what was wrong with them. They were normal, and then they had more protein build up in their brain, and then they went backwards and people didn’t understand why. So, if you were not aware of it, because it would be years that you wouldn’t notice anything until it was too late, and then your child would be a different type of person. Knowing we can avoid that for them is a huge blessing.”