Today is Rare Disease Day

The last day of February has been designated as World “Rare Disease Day” to call attention to the public health issues associated with rare diseases. The Project Charity — The Children’s Rare Disease Network has compiled some facts and figures about rare disease that we thought would be of interest. If you have other facts and figures not on our list, please send them to us. We are particularly interested in international facts on rare disease that do not seem to be available.

Please visit the Official Gallery page to see victims of rare disease.

DID YOU KNOW…

* Approximately 7,000 rare disorders are known to exist and new ones are discovered each year

* Rare disease affects between 25-30 million people in the United States and approximately 30 million people in the European Union

* One in 10 Americans is living with a rare disease

* Children represent the vast majority of those afflicted with rare disease

* Approximately 80 percent of rare diseases are not acquired; they are inherited. They are caused by mutations or defects in genes

* In the United States, rare diseases are defined as those affecting 200,000 or fewer people or about 1 per 1,000

* Rare disease is often referred to as an “orphan” disease

* Orphan or rare diseases are often not pursued by the pharmaceutical industry because they provide little financial incentive for the private sector to make and market new medications to treat or prevent them and because there are not enough patients to make research cost-effective

* Research on rare diseases can often lead to advances in our understanding of common diseases such as cancer, heart disease, diabetes, stroke and other major health problems

* As a whole, rare diseases represent a large medical challenge. Combine this with the lack of financial incentives to treat or cure rare diseases, and a serious public health issue is created

* The US Orphan Drug Act (ODA) of 1983 has been one of the most successful pieces of health related legislation ever enacted in the United States. Through a system of tax credits, government grants, assistance for clinical research, as well as seven years marketing exclusivity, the Orphan Drug Act has resulted in hundreds of approved orphan medicines, treating over millions of patients worldwide. Similar legislation has been adopted in Japan, Australia and the UK

* The US Orphan Drug Act has also been a detriment to healthcare. Many drug companies have accepted the challenge to be primary providers of rare disease drugs. Because they have no regulation and control over cost of medicines or competition (they are allowed to sell it without competition for 7 years), they can charge astronomical amounts of money for yearly treatments resulting in an extremly profitable business. Insurance companies often do not help pay for many of these drugs for victims of rare diseases who are dependant on the drugs for survival.

So, as we can see, rare disease are not that rare and need just as much support as well known diseases, like Breast Cancer.

Take a small moment to to pray for victims and research advancements. Make a small donation, put names on a prayer roll or write words of encouragement to a family who is struggling. Here are a couple of children that could use some love:



Hannah was born in July 2008. After birth, she had an enlarged spleen, very low platelets, and an enlarged liver. After many months of tests to try and find a diagnosis, a skin biopsy has diagnosed her with Gaucher's Disease, Type 2 or 3, a very rare genetic metabolic lysosomal storage disease with neurological and physical involvement and a life-expectancy of 2 (type 2) 15 to 20 (type 3) years or so. Hannah's mother is trying to spread the word about Gaucher's Type 2/3 Disease and any support you can give would be much appreciated. Visit her blog to find out about her story.



Baby Mia was diagnosed while still in her mother's womb with a rare heart disease called Critical Aortic Stenosis. She has had multiple surgeries, a heart transplant and many other complications. The McDonalds have insurance but after heart operations, a heart transplant, plus all the doctor visits and a lifetime of medicine... it would financially destroy the best of us, so any donations would be so helpful (they also accept giveaway donations to help raise funds). Visit HERE to find out about this special family and how you can help.



Cora Paige was a beautiful 10 month old girl that shortly passed away after being diagnosed with stage 4 cancer for only 3 weeks. Her parents are working to build a playground in her honor, to leave a legacy that will spread joy to other children. 100% of the proceeds of the sale of my Sugar Garland Necklace (shown below) will go directly to that fund, many other Etsy sellers have similar donations, search "Cora Paige" to find them. Read about it HERE. So far, $15,667.93 has been raised for this fund.



I know that there are SOOO many others out there, but these are the few I know of. Please take a moment to embrace your loved ones right now and enjoy them today in appreciation for the blessings we have in our families.

Missing my Dad on Father's Day

Well, Father's Day was yesterday, but I didn't get on the computer AT ALL as part of my "gift" to my wonderful hubster, he heh.

my dad as a toddler in the 50's

(my dad's dad, Grandpa James Alton Smith, who also died of leukemia before I was born).

But I did want to write a little about my Dad. He was diagnosed with Chronic Lymphacitic Leukemia when I was 6 months old. He underwent 2 bone marrow transplants, complete sterilized isolation, various rounds of chemo and radiation, a spleenectomy... He then developed squamous cell carcenoma in the face from his radiation poisoning throughout the years. He had almost all of his teeth removed, bones in his face removed as well as his upper palate in his mouth. He had exposed bone in his cheek that he covered with a thin gauze until he was healthy enough to receive a skin graft to patch the hole up that his skull peeked through.

He was fed through a feeding tube in his stomach for a couple of years and I still remember hearing him scream from the hospital waiting room the day he had it removed. So many memories. 14 different times, we were told as a family to go home and prepare funeral arrangements. 14 times.

His body was his worst enemy, a total wreck. He went almost completely blind, couldn't hardly speak, he couldn't go in the sunlight, walk, read... which was so sad because he loved outdoor sports like hiking and he was an avid reader and talker/jokester. He endured vigorous and painful excersizes to restretch his mouth with a large rubber mouth block, so he could speak a little. His frail frame wasted away. His eyes were uneven, food sprang from them like tears when he attempted to eat. He considered having one of them removed. Some people stared, even adults who knew better laughed at his Frankenstein like face, for it was horribly disfigured from all the bone removal and skin grafts over much of it. Wretched people, he didn't choose this!

But he kept on. He caught when doctors misdiagnosed him several times because he did his own studying (before the days of easy internet research.) He broke isolation by leaving his sterilized room (which can be fatal for a zero immune system patient after a bone marrow transplant) because the nurses wouldn't check him that his lungs were filling up with fluid... had he not taken that step, he would have drowned and died within minutes. He could barely lift his head or finger, he was so weak, but he knew he had to somehow get out of the bed, walk across the room and open the door to save his life. He did, then collapsed on the tile floor.

southern boy superhero... this pic was made into a sculpture by midnight orange here

He continued writing poems and songs, he told jokes and was a master storyteller, even volunteering at children's camps. He dressed up in clown costumes and did cartwheels to make THEM feel better. He loved God and trusted in his plan, never cursed him or asked "Why me?". He accepted his challenge with fate and learned from him, perfected himself because of it throguh Christ's example. He continued on his spiritual journey and inspired so many through his struggles and sunny outlook. He was a total refined and perfected being.

Perfected as in complete, whole.

 my dad, who was a Ranger, sharp shooter and 2nd lieutenant, in this ROTC at BYU pic around 1976

His last email to the family he wrote was, "I am going to have this thing beat in June." He died June 1st 2002, and so, he DID beat it in June. His beautiful spirit was no longer confined by a broken and agonizing painfully weakened body. A nurse injected him with a dirty needle and he got MRSA in the blood. It happened at the VA... many many many horrible things happen at the VA, news and lawsuit worthy things, but you can't sue the government. His end came in the same hospital that I later delivered my two children in. I was in Utah at the time of his death. My mother called me with the news and I was in denial. I flew home to say goodbye and never looked back. His death changed me for the better, as I strive to live up to his example if I can.

he was always so cute, with such a happy grin and bright eyes

I love you and miss you, you would love my husband, you would be the best father in law and grandfather. But I know that you escorted my children's spirits here, I know you were there on my wedding day and I know you watch out for us. I love you and will see you again Daddy!

my sis, homecoming queen, my dad, and me, 1998