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.
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Today is Rare Disease Day 2018. Creating more awareness can help people receive the treatment they need. Read more on what is classed as a rare disease and the common problems faced here: http://bit.ly/2Fa3897read more >>