Wednesday, February 12, 2014

Rare Diseases - February 28th

What makes a disease rare...according to the site  it is

A disease or disorder which affects fewer than 200,000 Americans at any given time.
  • 80% of rare diseases have identified genetic origins whilst others are the result of infections (bacterial or viral), allergies and environmental causes, or are degenerative and proliferative.
  • 50% of rare diseases touch children.
There are many challenges faced when diagnosed with a rare disease (just as there are many when undiagnosed; some of them are the same, some different) which go past diagnosis. Treatment options, research opportunities, services and support as just a some of them. As we found in getting a diagnosis for Ian, it can be extremely difficult for the medical profession to diagnosis a rare disease because there is little information or testing available. 

Having knowledge - what a wonderful way to have understanding leading to research leading back to understanding. February 28, 2013 RARE DISEASE DAY...a day to raise awareness. This year the Rare Disease Day is focusing on better care for rare diseases. This focus intends to "join together for better care," and bring family, friends, patients, and the community together in an effort to seek care for a better quality of life. Rare diseases can be very different from each other, however, there are some commonalities that can lead to better care. These may include using medical equipment, participating in therapy, improving mobility, and improving access to physicians and care providers. Together, with millions of people joining throughout the world, better care can be achieved. Many of you have seen first hand or read thru our blog how all of the above has been a challenge for us....I hope you will help in raising awareness. Please remember Rare Disease Day, February 28th. It may not affect you or a loved one, but it does affect 1 in 10 Americans, over 60 million people in America and Europe, and millions more worldwide. Share, and bring awareness of an otherwise rare and unknown world....the rare disease community. 

As anyone dealing with a disease, rare or not, you want to become an expert on the disease. How do you do that when there is so little information out there regarding the disease...well you become the expert on the disease, your loved one and  especially the way the disease and your loved one affect each other. Find a way to find others who are experts in your disease, other physicians, other parents, other patients...even if it is just one...this is what anyone dealing with rare diseases strives for. Being EMPOWERED by a rare disease diagnosis...with the knowledge of the name, knowing what is happening to Ian's body, and how his body "stopped" has empowered us to spread the word about rare diseases and VRK1 mutation (PCH1A).

What's in a name can be life-altering.

Wear That You Care; please join us in raising rare and genetic disease awareness ....February 28th, I have gene ribbons, please let me know if you would like one to wear...I will get it to you...

Marci Weinberg Scher

1 comment:

Anonymous said...

Julie Berman Katz Marci, is it a fundraiser too? I would love to wear a ribbon. Let me know if there is a cost and I will inbox you our address. Hope you guys are handling the snow! It's crazy

Amy Eisenberg Samay I'd love to!

Marci Weinberg Scher Julie Katz it is not a fundraiser but if you would like to you can donate to rare diseases. Send me your address so I can get a ribbon in the mail.

Sheri Knauth How does one get a ribbon?

Sheri Knauth Duh, read the comments.

Marci Weinberg Scher Sheri Knauth I give you one