Rare and orphan diseases: Is society listening?

September 14, 2015 by Martin Guilbert
Born in March 2012, Simon experienced a difficult first few months of life. After many respiratory complications, constant screening, and suspicions of hearing, metabolic, and neurological disorders, he was finally diagnosed with Sotos syndrome.

No one in the family had ever heard of it before. Only one in 14,000 is born with the disease, and fate had picked him. Simon has a chance of leading some semblance of a normal life, but there’ll be many hurdles along the way.

Patients with rare diseases often face multiple challenges. First, practically nothing is known about their disease and few health professionals have the experience to treat it. Lengthy periods of misdiagnosis are not uncommon, and once the correct diagnosis is in, there’s often little that can be done. Patients and their families are left searching for answers, desperate for information that simply doesn’t exist.

Le petit Simon Guilbert, atteint du syndrome de Sotos.

Little Simon, born with Sotos syndrome.

Hardly any research has been conducted on these diseases, largely because the funding just isn’t there, but also because research and development of new drugs is less appealing to pharmaceutical companies.

Therapeutic options for improving quality of life or life expectancy are practically non-existent for people with rare diseases. As a result, the disease’s influence is felt in every facet of their lives, from school, work, and hobbies to personal life and more. Affected individuals can experience isolation, stigmatization, social exclusion, and discrimination.

Diseases are said to be rare when they affect fewer than one person in 2,000. More than 7,000 such diseases are known.

Orphan diseases and hearing

Many rare diseases affect hearing health. Patients suffering from one of these diseases often seek assistance from hearing health professionals. The multidisciplinary teams of providers that emerge around these children become a vital source of hope and help.

To learn more about Simon, his story, and the role of the zebra, visit simonlezebre.ca.

References :
www.rqmo.org. Organisme québécois de référence et de soutien sur les maladies orphelines.