Last spring, Carson Cook had the chance to live out a lifelong dream, getting an up-close view of March Madness as a student volunteer with the San Diego State University men’s basketball team on its run to the national championship game.

The experience carried even greater significance for Carson as someone living with a rare genetic condition. As a child, he was diagnosed with mucopolysaccharidosis I (MPS I), a genetic condition that inhibits one’s ability to break down certain complex carbohydrates and can lead to a number of physical and mental complications. While Carson played sports, living with MPS I limited his ability to fully pursue his passion on the court.

“A big part of why I want to work in sports is to inspire other people with genetic conditions and show that, even if you’re not on the court, there are other ways to be involved in the game,” says Carson, who is pursuing a journalism degree, with minors in marketing and history. “This is something I might not have been able to do if it wasn’t for the RARE Scholars program enabling me to focus on school and build the connections I’ll need to succeed in this industry.”

BioMarin’s RARE Scholars program was created to provide financial support to U.S. college students living with one of four rare genetic conditions – MPS, phenylketonuria (PKU), Batten disease or achondroplasia. Since its inception in 2017, the program has awarded more than $100,000 to 22 students like Carson who have demonstrated exceptional leadership and engagement in school and community activities.

Carson, a four-time recipient, is one of five students to receive the scholarship for the 2023-24 school year.

“At BioMarin, we believe it’s important to find ways to make an impact beyond medicine in our support of people living with genetic conditions,” says Marni Kottle, senior vice president and chief communications officer. “We’re inspired by the young individuals who apply for and receive funding through RARE Scholars and are hopeful this program can play a role in helping them achieve their future aspirations.”

Students with PKU Manage Time of Transition

The transition to college can be a particularly important time for young people living with PKU, a genetic condition characterized by an enzyme deficiency that inhibits the body’s ability to break down an amino acid found in all foods with protein. People living with PKU limit and closely monitor their protein intake and can face cognitive issues related to the condition.

The changes in routine that come with a transition such as going to college can present new challenges. RARE Scholars recipient Alexa Breske recalls having a conversation with her genetic counselor when she moved away from her home in Wisconsin to attend the University of Minnesota Duluth (UMD).

“Right before I went to college, I met with my genetic counselor because they get concerned 1when you go off on your own about following your diet, living in the dorms, having all these options,” says Alexa, who is now a Doctor of Pharmacy student at UMD. “I’ve seen firsthand the challenges people living with PKU can face when they get off track and I knew I wanted to pursue something that would require me to be at the top of my game 100% of the time.”

Alexa says growing up with a rare genetic condition played a role in inspiring her to work toward a career in healthcare. In addition to studying to become a pharmacist, she connects with parents of newly diagnosed infants to share her experience living with PKU.

“Just the fact that a program like this exists is added motivation to continue pursuing a career in the medical field and supporting my community,” Alexa says.

Natalie Dees, a freshman at Eastern Washington University, is also planning for a career in healthcare as a biology major who hopes to one day become a surgeon. She recalls becoming interested in life sciences during a biomedical science class as a freshman in high school. One of her projects was to research and present to the class on a medical condition – she chose PKU – and from there her ambition to become a physician became clear.

“I’ve been reading a lot of medical books,” says Natalie, who has already been taking college courses through a dual credit program. “The hands-on aspect of surgery – physically fixing a problem someone is having – is really cool to me.”

On the other side of the state, Will McClintock is starting his college journey at the University of Washington. Will is undeclared, but interested in computer science and business. A competitive swimmer throughout high school who is considering going out for the Washington crew team, Will knows this is an important time in his PKU journey and looking forward to enjoying all that college has to offer.

“It’s definitely been a big responsibility to juggle sports nutrition and PKU eating habits on top of other changes,” says Will. “This scholarship is another helpful tool in allowing me to focus on school and launching my career while managing my PKU.”

‘Makes Me Feel Seen’

This fall, Carson’s younger sister Sarah, who is also living with MPS I, joined him as a RARE Scholars recipient and student at San Diego State University.

“My sister and I are really close so it will be great to have her down here for my last year,” says Carson. “We’ve definitely leaned on each other a lot over the years.”

Sarah, who plans to double major in communications and hospitality tourism management, hopes to one day work to create more awareness about MPS and help inspire children and families affected by rare diseases. As a child, she had the opportunity to spend a day with the U.S. women’s national soccer team through the Children’s Wish Foundation. The feeling of that experience stuck with her and made her want to pay it forward.

She says being a RARE Scholars recipient leaves her with similar feelings of gratitude and motivation.

“In a way, a program like this makes me feel seen,” says Sarah. “There still isn’t that much awareness of genetic conditions like MPS, so for BioMarin to support our community in other ways beyond providing treatment is awesome and inspires me to do more.”