Today is National Rare Disease Day [Jane Logan]

There are about 6,800 types of rare diseases

My desease isn't just rare, it's an orphan desease

There are about 6,800 types of rare diseases. In the United States to be considered rare, the disease must affect less than 200,000 people.  Although each individual disease is rare, collectively 30 million Americans (one in ten) are affected by a rare disease.

An Orphan disease is a disease which the pharmaceutical industry hasn’t “adopted” because they won’t make enough money from developing medications to treat or prevent the disease.

In a capitalistic health care system abandoning orphan diseases makes perfect sense.  Researching and developing medications for a potential 200,000 consumers just doesn’t justify the expense of bringing a drug to market.

In a State or Country which mandates individual health insurance coverage, it makes sense to require Health Insurance companies to cover “experimental” treatment for rare diseases.  After all, without “experiments” there would be no medical treatments to prevent or cure any disease since all medical treatment at one point was experimental until proven effective.

I discovered the National Organization for Rare Disorders (NORD) after being diagnosed with Narcolepsy (sleep disorder) in 2002.  I was researching Narcolepsy, found out it is an “orphan” disease and decided I needed to learn more about orphan diseases and I found the National Organization for Rare Disorders (NORD) website. 

NORD advocates for the millions and millions of people with rare diseases who without NORD wouldn’t have a voice in the health care debate in this country. 

Becka Alves didn't think she had a voice in the health care discussion, but Becka found her voice in 2011.

Becka Alves has a disease which affects only 1,000 people

Becka Alves and her daughter
Becka Alves has Devic’s Disease or Neuromyelitis – an autoimmune disorder in which her own immune system attacks her optic nerves and spinal cord.  There are less than 1,000 people in the world with Devic’s  Disease.  

A facebook friend recommended the Save Becka page to me and after reading her story and since I have an extensive insurance background, I contacted her to offer to help her negotiate with her health insurance company to get her “experimental” treatment covered.

Becka Alves lives in Massachusetts, is required to have health insurance, is a public employee and her health insurance continues to make her fight for medical treatment. In other words, Becka is paying for health insurance but it won't pay for the medical treatment she needs.  While doing research for Becka, I learned Massachusetts has a dizzying number of State Agencies and “non-profits” involved in the health care system.  Many of the “non-profits” are organizations created and managed by State employees such as Delores Mitchell, Executive Director Group Insurance Commission:

Group Insurance Commission
The Partnership for Healthcare Excellence
Massachusetts HealthData Consortium
Massachusetts Health Council, Inc.
Massachusetts Healthcare Purchaser Group,Inc.
Health Care Quality and Cost Council
Massachusetts eHealth Collaborative
Division of Health Care Finance & Policy
Health Care Quality and Cost Council

None of these organizations are helping Becka Alves - she continues to battle her insurance company while living with a rare and disabling disease, working, raising a family and now advocating for herself and others with rare diseases.

Becka Alves is amazing, she is my hero - Delores Mitchell, Executive Director Group Insurance Commission not so much... welcomes thoughtful comments and the varied opinions of our readers. We are in no way obligated to post or allow comments that our moderators deem inappropriate. We reserve the right to delete comments we perceive as profane, vulgar, threatening, offensive, racially-biased, homophobic, slanderous, hateful or just plain rude. Commenters may not attack or insult other commenters, readers or writers. Commenters who persist in posting inappropriate comments will be banned from commenting on