Meet Sailaja, from Prurigo Nodularis!

Meet Sailaja, from Prurigo Nodularis!

by | 22 Nov 2024 | Case study

Sailaja’s journey began when she developed a debilitating and distressing, rare neuro-immunological condition called Prurigo Nodularis almost twenty years ago. Sailaja faced a diagnosis odyssey that lasted for nine years, learning the hard way that as a rare disease...
Meet Mel, Founder of Cure DHDDS!

Meet Mel, Founder of Cure DHDDS!

by | 22 Nov 2024 | Case study

Mel Dixon is the Founder of the charity Cure DHDDS. Her rare disease journey began when two of her three children were diagnosed with an ultra rare DHDDS gene variant in November 2022. The DHDDS gene variant is ultra rare, newly discovered and appears to be...
Meet Lee, Co-Founder of NCBRS Worldwide Foundation

Meet Lee, Co-Founder of NCBRS Worldwide Foundation

by | 22 Nov 2024 | Case study

Lee Reavy’s rare disease journey began in 2006 when his son, Callum, was born. Right from the start, Lee and his wife noticed something wasn’t quite right – Callum was small and had distinctive facial features. Later the next year, after a visit to...
Meet Kristie, CEO of Global DARE Foundation

Meet Kristie, CEO of Global DARE Foundation

by | 21 Aug 2023 | Case study

Defeat Adult Refsum Everywhere Kristie was catapulted into the world of rare diseases in April 2019 when she was diagnosed with Refsum disease. It took the gradual loss of her peripheral vision for her to seek help from a retinal specialist in Maine and Boston, MA....
Meet Amanda, Trustee and Chair of The EOS Network

Meet Amanda, Trustee and Chair of The EOS Network

by | 25 May 2023 | Case study

Amanda has double the inspiration for establishing The EOS Network. Amanda’s two children, Samuel and Heather, were born with eosinophilic gastrointestinal disease (EGID) which makes eating incredibly painful. When Amanda’s son was diagnosed with the disease at 7...
Meet Bhavna, CEO of Stargardt’s Connected

Meet Bhavna, CEO of Stargardt’s Connected

by | 24 May 2023 | Case study

Bhavna’s world changed forever in September 2015 when her seven-year-old son, Ethan, was diagnosed with Stargardt’s: an inherited, degenerative retinal condition that slowly leads to sight loss. Ethan was struggling with his distance vision, so Bhavna went to the...
Meet Wendy, Chair of the Norrie Disease Foundation

Meet Wendy, Chair of the Norrie Disease Foundation

by | 31 Jan 2023 | Case study

When Wendy’s son was born with Norrie disease, a rare genetic condition that causes blindness, hearing loss and developmental delays, there was no UK organisation for her to turn to for support, and very little information available. Determined to support the Norrie...
Meet Russell, Trustee of the LHON Society

Meet Russell, Trustee of the LHON Society

by | 31 Jan 2023 | Case study

Russell’s son lost his sight over a matter of weeks at the age of 24 due to LHON, a rare hereditary condition. There was very little advice about what was going on and why it was happening, and what was there was often conflicting. After struggling to set up a patient...