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PTC Therapeutics (United States): PTC Therapeutics: Pioneering Rare Disease Treatments
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April is a California mom and Nana of three who was diagnosed with Huntington’s disease (HD) after learning her father carried the gene. For April, it was difficult to find, and afford, genetic testing, and receiving a positive result felt abrupt and isolating. After her diagnosis, she had to step away from the fast-paced Emergency…
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Kailey, who lives in Louisiana with her boyfriend and two dogs, was diagnosed with Friedreich’s ataxia (FA) after years of concerning symptoms and multiple kinds of testing. She describes FA as feeling like your brain and body aren’t communicating. Despite the challenges of living with FA, she finds strength in the FA community and admires…
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Amanda, who lives with phenylketonuria (PKU), and her mom, Jill, share what it’s like to manage the condition every day. From navigating meals to preparing for situations that aren’t always PKU-friendly, Amanda describes the planning, resilience and determination it takes to stay on track – supported by family, friends and the PKU community. She also…
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