BELLA

Pursuing a career in pediatric medicine

XLH doesn’t define me, but it defines a lot of the best parts of me.

Bella, age 22,
living with XLH

Diagnosis of X-linked
hypophosphatemia (XLH) at age 2

“I was diagnosed with XLH by a team of doctors when I was 24 months old. I have one younger sister who does not have XLH; we found out my case was spontaneous. I can’t imagine my life not having XLH. I’m more empathetic toward others, and I know that I want to go into pediatric medicine because of it.”

Finding her path forward

“Growing up, school was always a big part of my life. I’m very curious, and I love asking tons of questions in class. I’m really passionate about science in particular. I’m now a neuroscience major at Boston University and work as a research intern at a neurology clinic. Pushing through a premed curriculum isn’t fun at times, but I know it’s worth it. If I can spend the rest of my life doing the work that my doctors have done for me, that’s all I can ask for.”

One of the most meaningful things I can do to leave my mark on the world is to help people.

A friendship that defies the odds

“I’ll never forget when Leah first came into my life. I was 7, and she was 2. At the time, her mom had no answers for what was causing Leah’s legs to bow. Her mom had heard about my diagnosis, so she connected with my mom, and they agreed to meet up since we lived so close. When they showed up to our house, my mom took one look at Leah and cried: ‘It’s Bella!’ She gave them my doctor’s information, and Leah was then formally diagnosed with XLH.

“Leah and I have been bonded like family ever since. I’m so lucky that I have her; one of the most instrumental parts of managing my XLH has been relying on Leah and being there for her. Leah has made me grow up and learn what it means to set an example for someone. I know she looks up to me just because I’m older, but she’ll never understand how much I look up to her.”

Bella and Leah

No one understands what it’s like to have XLH more than someone else with it.

Bella’s experience with CRYSVITA® (burosumab-twza)

“I swam competitively growing up and was always pretty active, but when I began taking CRYSVITA at age 18, my joint stiffness started to go away. It’s no surprise that I feel better because my phosphorus levels are consistent. For the first time with CRYSVITA, my levels look normal in comparison to how they’ve been my whole life. While on CRYSVITA, I’ve experienced one side effect—a little bit of a raised bump where I receive my injections that goes away after a day.”
Some common side effects of CRYSVITA include headache, injection site and hypersensitivity reactions, restless legs syndrome, and dizziness. Other common side effects are covered in the Important Safety Information on this page.

Connecting with the community

“One of my goals this year is to start a young adult XLH group so I can connect with others my age. It’s important for people, especially at this stage in life, to talk to each other and be able to rely on those who understand what it’s like having a rare disorder.”

I love talking to people and hearing their stories.