Covering Rare Diseases

Sometimes it’s good to wear your heart on your sleeve.

By Kevin RR Williams

HEALTH The longest word in the English language is Pneumonoultramicroscopicsilicovolcanoconiosis, which of course, would make it the longest (factitious) word for a medical disease. It surpasses Mary Poppins' supercalifragilisticexpialidocious. Invented in 1935 by Everett M. Smith, the long word beginning with the "P" means "a lung disease caused by the inhalation of very fine silica dust, causing inflammation in the lungs." Hopefully, you or your young ones aren't suffering from this condition, which is more commonly referred to as silicosis.

GVM plaque type

If having a rare disease is frustrating for adults, imagine the suffering little children endure. Seven-month old Casen Buswell is one of only 14 known people in the world with a disease called Glomuvenous Malformations Plaque Type. Casen has visible lesions, spreading from his collarbone, over his shoulders, down his arms and torso. Plaque hardening in his vessels, muscles and skin could lead to heart failure. So is family is raising money by collecting donations and selling T-shirts in order to relocate to Belgium for treatment.

In some cases, children's anxieties are lessened with genetic disorders. This is because they have no comparable frame of reference. It is unlike losing a body function with which we have become accustomed. "Normal" for them, is their atypical health condition. Often, however, when they begin attending public school, peers may be quick to point out their differences. Even some well-meaning older ones may allow unkind words to pass their lips before considering the impact.

ClinicalPosters.com offers e-Patient apparel for little tykes to set gawkers straight. "Be patient. When I grow up I'll be able to spell my illness" is just one. Choose from T‑shirts, hoodies, baby body suits and infant bibs. Check them out in our CafePress portal. Apparel and other products there for adult e-Patients is also available.

Support Groups for e-Patients

To cope with the anxiety of rare diseases, many patients seek online support groups. The Society for Participatory Medicine is a resource of articles and a social network to link caregivers and e‑Patients sharing illnesses in common together. The 'participatory' concept may also be applied to fitness, nutrition, mental health, end-of-life care, and all issues broadly related to an individual’s health. @s4pm

The National Organization for Rare Disorders (NORD) is another great resource. The site provides a database "on behalf of the 30 million Americans who live with one or more of the 7,000 rare diseases." The database doesn't have them all but it does currently share definitions and list support organizations for about 1,200. @rarediseases

Some patients go years without a correct diagnosis, and most live day to day with concern about what the future may hold. Improving the services and effectiveness of rare disease patient organizations is an important way to begin alleviating the unique problems faced by these families.

Clinical trials are often the only alternative for some patients with pre-existing conditions who have exhausted insurance benefits. You may discover links to organizations involved with clinical trial research in our useful resources section.

Exclusive e-Patient posters are also available at Store.ClinicalPosters.com for physicians, organizations and patients that wish to communicate their support of this vast community.

Well Wishes

My personal wish is for everyone facing chronic diseases to have the strength to reflect upon a pleasant memory, even if in the distant past. May you find future support through the tireless efforts of many selfless organizations providing assistance.

The phrase, "Don't wear your heart on your sleeve" suggests not openly displaying one's emotions. Those who live every breath with discomfort show their emotions and, in frustration, occasionally share choice words with others. For the benefit of caregivers and loved ones, be careful that such words don't needlessly offend. Hopefully the resources in this article will bring a bit of cheer and remain A Bit More Healthy.