Meet Tim. Tim is Tom’s little brother. From birth he had some health complications, but quickly recovered. However, like Tom he had trouble with his speech at the age of 2. The explanation? “He’s just like Tom.” Read more about brothers Tim and Tom on our blog and follow the patient journey and lengthy diagnosis for a child living with a rare disease.
Duchenne muscular dystrophy is a devastating disease that we still don’t fully understand, and currently there is no cure. This article describes current and new treatment therapies as well as the many challenges scientists still face. https://lnkd.in/gYkEcuHread more >>
Cystic fibrosis is a rare disease that causes damage to the respiratory, digestive and reproductive systems. Our recent article presents what is currently known about this disease as well as existing and future therapies. https://lnkd.in/gkMERE4read more >>
Tom and Tim finally reach a diagnosis after finding genetic faults known as AGU. The doctor couldn’t tell them much more, so they were sent to a rare disease specialist for further consultations. For Tom and Tim, and their families, it’s been a long process to reach a clear diagnosis. Sadly, like many other rare diseases, there is no therapy or treatment available. Rare diseases affect more than 350 million people worldwide. We need to support people like Tom and Tim to raise awareness of the long and stressful journey through to diagnosis, to understand the reality of living with a rare condition and to support those families affected by a rare disease.read more >>