Man with X-Linked Hypophosphatemia Writes Song for his Community

According to a story from The Charlotte Observer, Chris Younger was 18 when he first was diagnosed with X-linked hypophosphatemia, a rare disease that affects the bones. However, he had been impacted by the genetic disorder since birth. As a child, he had not explanation for why he was a slow runner, had constant teeth problems, and had bowed legs. However, finding an online community in his 40s helped change his perspective.

About X-Linked Hypophosphatemia

X-linked hypophosphatemia (XLH) is a genetic disorder. It is considered a type of rickets that is distinguished from other types because vitamin D cannot cure it. Rickets is characterized by the abnormal softening of bones which can result in a bow-legged appearance and stance. The disorder is linked to mutations affecting the PHEX gene sequence found on the X chromosome. Symptoms of X-linked hypophosphatemia include soft bones, bone pain, osteoarthritis, teeth problems, and hearing loss. Treatment may include burosumab (as of 2018), calcitriol, phosphate, human growth hormone (HGH), and surgery to correct bowed legs or other bone deformities. The prevalence of this disease is about one in every 20,000 people. Inheritance of the condition is X-linked dominant, which means that men are more likely to express symptoms. To learn more about X-linked hypophosphatemia, click here.

A Musician’s Story

Chris found it exceptionally validating to communicate with other people who shared his diagnosis. Before, Chris found it was easy to feel different and isolated from others who simply had no way to really understand the challenges that the disorder caused him in daily life.

For Rare Disease Day 2020, which was the last day of February, Chris and his wife Liz decided to write a song called “XLH Strong” as a way to rally their rare disease community and help everyone feel more connected to one another. Chris has always enjoyed making music and felt like making a song that could uplift patients living with X-linked hypophosphatemia.

Chris is far from the first rare disease patient to make music about the experience. He first started playing guitar when it was clear that he wouldn’t be able to perform in sports. It was a huge boost to his self-esteem:

“You’re a kid, short, bowlegged, bad teeth just as your self-image is developing. It’s terribly devastating in terms of self-esteems.”

At 58, Chris is getting the best treatment possible and hopes that other patients will be able to get access to the treatment that he has.

Check out the original song here.

 


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