Philip Jönsson’s Journey to Gold
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Philip Jönsson’s Journey to Gold
Philip Jönsson is the reigning Paralympic gold medalist in the mixed 10m air rifle standing event and the first person ever with Duchenne to win a gold medal in any event at the Paralympics. We asked him how he prepared for Tokyo 2020, and about his plans to defend his title. How and when did…
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Lizanne Schreur: Aspiring screen writer living with Duchenne
Lizanne Schreur is a 22-year-old Digital Television Production student based in London. She was born and raised in Netherlands where she grew up in a big family with three older brothers. At three years old, Lizanne was diagnosed with Duchenne. The occurrence of Duchenne is very rare among females and often manifests differently than it…
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Laura CAN honor her sibling through her work
Laura D’Annunzio is part of our PTC patient engagement team in Argentina who knows first-hand what it is like to be affected by Duchenne. Born in Posadas, a city located in north-east of Argentina, Laura and her twin brother are the eldest of four children. Her younger brother, Alejandro, was born when Laura was 8…
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Gabriela CAN inspire children to embrace their differences
Meet Gabriela, young and talented author of a children’s book called Timothy’s Magic Wheelchair. The book is all about a young man by the name of Timothy who never really liked his wheelchair and what it stood for. So much so, that he wasn’t sad or upset when it broke down. However, this all changed…
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Hulda’s Dancing for Duchenne CAN bring joy and happiness
Hulda Svansdóttir is a mother of three, caregiver and Duchenne advocate from Iceland. Hulda’s life was transformed when her youngest son, Ægir, was diagnosed with Duchenne when he was four and a half years old. However, despite knowing little about the disease, when Hulda found out her son may be eligible for treatment, she was…
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Finding Light in the Dark – Advice from a Rare Disease Caregiver
Jessica Fein is the mom to Dalia, who has myoclonus epilepsy with ragged-red fibers (MERRF) syndrome, an extremely rare disease and type of mitochondrial disorder. The following article was shared by Jessica and contributed to the PTC Newsroom to help spread awareness about MERRF syndrome and to help others who are affected by rare diseases.…
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Introducing Insightful Moments™, a Rare Disease Patient Education Series
En español haz clic aquí Living with a rare disease or caring for someone with a rare disease comes with many challenges. In addition to processing new and complicated information and making countless decisions, it can be tough to know where to turn to for help, or where to even begin. To help support patients…
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Webinar: Rare Paediatric Neurological Diseases: A Focus on Europe
Wednesday, 23 March 2022 – 14:00 – 15:00 (CET) PTC Therapeutics invites you to participate in a multi-stakeholder webinar to present the findings of the Economist Impact* report ‘Rare paediatric neurological diseases: A focus on Europe’ and discuss how policymakers, industry, healthcare providers and patients can collaborate to improve care and outcomes. Rare paediatric neurological…
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Transition to Adult Care in DMD, the Social Perspective
As more and more boys and young men with DMD are transitioning into adulthood, there is an increasing emphasis on quality of life and psychosocial management. In this episode, we are joined by Sarah Stoney, licensed social worker from Children’s Hospital of Philadelphia for a discussion about considerations and strategies for social aspects of care.…
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#DuchenneCan live every day like the best day ever
Laura McLinn is a mother, caregiver and advocate from Indianapolis, IN, USA. When her son was diagnosed with Duchenne at 3-years-old their lives shattered; they had never heard of Duchenne and suddenly could no longer see their son’s future. However, the McLinn family no longer mourns the life that Jordan could’ve had but now embrace…