I actually Emailed the woman on the card to tell her they had made a mistake.
She assured me they hadn’t. She even forwarded me the nomination form that had been sent in on behalf of Meghan and I. Touched. Stunned. Honored. Flattered.
I talk to Meghan all the time about the blog, about the internet, and about forfeiting privacy in the interest of reaching others and raising awareness. She is all in. She is a preteen. This is the time to address internet issues all the time. I told her the other day she would only want things on the internet about her she would be proud if her family or a future boss saw. She agreed. She is proud of this, and so am I.
We are big supporters of the Global Genes Project. We wear the denim ribbon on our necks every day. (And we hope beyond hope that one day, they will sell them as an awareness raising fund-raiser!)
The winners have been chosen. I wish them all the best.
I have no idea how many people across the world received this glass block that we received. It doesn’t matter, because it won’t make it any less special.
We haven’t done much – just openly told our story. But, apparently to some, that is all they needed.
I am so grateful for the “Rare Disease” friends I have met along the way – those with Cowden’s and other PTEN mutations, and those with diseases I myself am first learning about. Separate we are weak. Together we are strong.
And to the very strong lady, my friend who I have never met, who had the love in her heart to think of us, to nominate us… well, BIG HUGS to you. You continue to make a difference every day.
2013 “Tribute To Champions of Hope” Gala
They will celebrate in California on September 21st. We will celebrate right here, and with them in spirit.
There are people making a difference for our “Rare” community at large. I am eternally grateful. One day, all this will change… (source) http://globalgenes.org/rarefacts/
RARE Facts and Statistics
Statistics and Figures on Prevalence of Rare and Genetic Diseases
Although rare and genetic diseases, and many times the symptoms, are uncommon to most doctors, rare diseases as a whole represent a large medical challenge. Combine this with the lack of financial or market incentives to treat or cure rare diseases, and you have a serious public health problem.
Here are a few statistics and facts to illustrate the breadth of the rare disease problem worldwide.
- There are approximately 7,000 different types of rare diseases and disorders, with more being discovered each day
- 30 million people in the United States are living with rare diseases. This equates to 1 in 10 Americans or 10% of the U.S. population
- Similar to the United States, Europe has approximately 30 million people living with rare diseases. It is estimated that 350 million people worldwide suffer from rare diseases
- If all of the people with rare diseases lived in one country, it would be the world’s 3rd most populous country
- In the United States, a condition is considered “rare” it affects fewer than 200,000 persons combined in a particular rare disease group. International definitions on rare diseases vary. For example in the UK, a disease is considered rare if it affects fewer than 50,000 citizens per disease
- 80% of rare diseases are genetic in origin, and thus are present throughout a person’s life, even if symptoms do not immediately appear
- Approximately 50% of the people affected by rare diseases are children
- 30% of children with rare disease will not live to see their 5th birthday
- Rare diseases are responsible for 35% of deaths in the first year of life
- The prevalence distribution of rare diseases is skewed – 80% of all rare disease patients are affected by approximately 350 rare diseases
- According to the Kakkis EveryLife Foundation, 95% of rare diseases have not one single FDA approved drug treatment
- During the first 25 years of the Orphan Drug Act (passed in 1983), only 326 new drugs were approved by the FDA and brought to market for all rare disease patients combined
- According to the National Institutes of Health Office of Rare Disease Research, approximately 6% of the inquiries made to the Genetic and Rare Disease Information Center (GARD) are in reference to an undiagnosed disease
- Approximately 50% of rare diseases do not have a disease specific foundation supporting or researching their rare disease
And one day this list will be a lot shorter. http://globalgenes.org/rarelist/ (Click to see the more than 7,000 Rare Diseases)
For tonight – I will rest knowing we have helped a few people as best we can, and that we have raised awareness of a few others. I will rest knowing that while I endure the agonizing wait for the wrist MRI there are people working so that one day these Rare Diseases will be a distant memory.
I will rest thinking of my daughter – the future geneticist. One who WILL make a difference!