EIP Institute is honoured to be working with the Cystinosis Foundation for the Spot the Early Signs of Metabolic Disorders Program targeting to make Pediatricians ‘Think Rare’ and look for the signs and symptoms of rare disease in all their consultations.
In addition, EIP and the Cystinosis Foundation have developed a number of support videos for families with a child diagnosed with Cystinosis.
About Cystinosis Foundation
Our story begins in 1982, when Joshua, grandson of Jean Hobbs-Hotz, was diagnosed with this ultra-rare metabolic condition. There was no treatment available. The first treatment for Cystinosis would not arrive until 1994.
Unwilling to do nothing and at the suggestion of Jerry A. Schneider, M.D., with support from family and friends Jean established the Cystinosis Foundation for the purpose of serving all individuals living with Cystinosis. From the start we have collaborated with scientists, clinicians, families and industry to improve the care of individuals and families coping with this condition. Making a difference since 1983 for the child born today, our mission focuses on educating patients, parents and medical professionals about this ultra-rare condition, mentoring the establishment of patient support groups across the globe and serving the needs of patients and their families. The Cystinosis Foundation works beyond borders, empowering parents and mentoring the establishment of support groups in 16 different nations, helping to remove painful feelings of isolation that accompany this ultra rare metabolic condition. We believe that nothing is too small to know and nothing too big to attempt.