Rare diseases deserve more than just one day a year.

by Joanne Bastante-Howard

slide1   As we approach Rare Disease Day, February 28, 2014, we must not only acknowledge these struggling families, we need to help build awareness and offer our support to help the children.

Did you know that a disease is considered rare if it is believed to affect fewer than 200,000 Americans? Perhaps that is why they are often called “orphaned.” The attempt to find treatments for these illnesses is often abandoned because some deem that they do not affect “a large enough segment of the population.” (Hence, they do not merit the costs associated with R&D and marketing).

Did you also know that according to the National Institute of Health (NIH), there are over 7,000 rare diseases affecting between 25 and 30 million Americans? That’s nearly 1 in 10 Americans!

The reality is that rare diseases are present across a wide spectrum of medical conditions. All but a few forms of cancer are rare. Many, but not all, of these diseases are genetic. Some are discovered at birth, while others do not become apparent until much later in life.

Each disease may be rare, but when they are combined, they affect millions in our country. Rare diseases are an important public health concern. Many families find themselves in an alarming state of emergency.

More than half who have rare diseases are children!

glomuvenous_malformations_plaque_type  Perhaps you are wondering what types of rare diseases are present in the United States. Here’s a sampling: There are rare neurological and neuromuscular diseases, metabolic diseases, chromosomal disorders, skin diseases, bone and skeletal disorders, those that affect the blood, heart, lungs, kidneys and other body organs and systems.

To get an even better idea, feel free to check out National Organization for Rare Disorders (NORD)’s database of more than 1,200 reports on diseases posted online at www.rarediseases.org. The most comprehensive listing on rare diseases can be found in the National Institute of Health (NIH) Office of Rare Diseases Research (ORDR) at www.rarediseases.info.hih.gov.

Many still need effective treatment!

Unfortunately, many rare diseases still do not have approved treatments and are not even being evaluated by medical researchers. As a result, individuals are forced to seek treatments that are not approved by the FDA for their particular disease.

As if what I’ve mentioned isn’t tragic enough, families are having problems obtaining reimbursement from insurance companies for these expensive treatments.

How would you feel if it was your child?

Humor me for a minute, and put yourself in the shoes of many parents in America. What would you do if you were just informed that your beautiful baby appears to have a rare disease?

• You are struggling trying to obtain an accurate diagnosis.

• You learn that there are limited treatment options and many of the treatments are unapproved.

• There is little, or possibly no research, being done on this condition.

• Treatments are more expensive than common diseases.

• You are experiencing reimbursement problems with your private insurance or Medicaid.

• You have difficulty working with medical professionals, social workers, educators, and financial professionals in the care of your child because these individuals do not have an understanding about the disease.

• You feel abandoned and isolated by our healthcare system, not to mention others who do not have any idea how to help.

These are just some of the painful experiences families face in caring for their sons and daughters. All these parents want the same thing you do: That their child has a long, healthy and bright future.

Rare Disease Day is celebrated all over the world for one day. Please help us get the word out for all America’s Special Kidz with rare diseases. Would you kindly help by sharing this post with all of your friends, family and colleagues?

I have one more request. Please go out of your way to offer your encouragement and support to the families in your community all year long. I can assure you that when you get to know these little heroes, it will be a rewarding and life-changing experience.

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