Hope Should Never Be Rare

This article starts with a story about a child who was diagnosed with spinal muscular atrophy with respiratory distress (SMARD) and follows the idea that there is no single country where the health care system would be able to respond to the needs of 100% of patients. Today the SMARD diagnosed in about 80 patients in the world and there is a hope that the experimental therapy will become cheaper in the foreseeable future due to more advanced technologies and due to more studies.

The story of the boy from the article has impressed me. At the age of 12, he is popularizing information about SMARD and he even was one of the guest speakers at the event dedicated to the Rare Disease Day, which was held in Connecticut. “A Disease May Be Rare, Hope Should Never Be”.

The blog where Hunter describes his life: https://www.facebook.com/HOPEforHunterPageau/

You can read more about this disease here: https://ghr.nlm.nih.gov/condition/spinal-muscular-atrophy-with-respiratory-distress-type-1#genes

An article about SMARD gene therapy in mice and in a human cell culture with interesting results: http://advances.sciencemag.org/content/1/2/e1500078.full

Source: ‘A Disease May Be Rare, Hope Should Never Be,’ Says Boy with SMARD at Connecticut Rare Disease Day Event

Oleksandr Petrenko
Oleksandr Petrenko
M.D., PhD student

A medical doctor and researher, studying rare diseases.