World "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.

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

SA Living

Today we got some great news! Thanks to Delaine Mathieu, who did our piece on WOAI 4, we will now be guests on SA Living sometime next week. That's huge! I'll let you know when we find out more details.

Please keep emailing Grey's committee members. What I wouldn't have given to see the tidal wave of emails they received this morning when they checked their mail!

I know we're making Grey so proud. For that, I can't thank you guys enough.

Greyson's Law, HB 1795

Greyson's Law, HB 1795

Below is the link to the committee members that need to support Grey's bill. Please email as many as possible, as soon as possible. Make sure to include Grey's House Bill number HB 1795.
http://www.house.state.tx.us/committees/list81/034.htm

The following link is the actual bill:
http://www.legis.state.tx.us/BillLookup/History.aspx?LegSess=81R&Bill=HB1795

Please feel free to forward this on to anyone and everyone.

In Less Than A Year

I keep up with a lot of other Krabbes families, through their blogs. I find a lot of reflection. "A year ago today . . .", "Last Christmas we were . . .". All day, no matter what I did, I just could not help put myself in those places. There I was.

A year ago today, we were a happy, oblivious family with our new colorful baby boy, not yet 3 months old. He was sleeping through the night. We were feeding him cereal. We were having family outings, no longer really afraid of the RSV season. We were bringing him up to school to show off. We were taking him to his Nana's and his Aunt Larissa's. We were entranced by his personality. He had a milk allergy, but which of our kids didn't?

Eight months ago, we were a little concerned that he wasn't holding his bottle. He was rolling over and cooing. He was laughing and kicking. He was shaking his head no. He was just "a lazy baby".

Six months ago, we moved up his 9 month check-up. Now 8 months old, he had stopped rolling over but he was still giving five. He still laughed hysterically and slept through the night. He was feeding himself and sitting up in his highchair. But his head control was getting worse, and it tilted to one side. We were told to go have some tests run, right away.

A week later, blood test results indicated maybe CP. A week later, we were at a neurologist. "I see babies like Grey grow to walk in and out of my office all the time." "He's so personable." "I'm not sure what he has, but I know he doesn't have CP." He was saying Dada.

Five months ago he had his first MRI. It was clear. He had a muscle and nerve biopsy. They looked fine. He had a nerve conduction test. His nerves didn't work. But, he was still an extremely happy baby.

Four months ago another visit to the neurologist turned into a night's stay at the hospital due to a "failure to thrive". He had his second MRI, a spinal tap, a swallow test. We have picture of him at the hospital, smiling with an IV in his arm. We took him home the next day, October 31st, and took him trick-or-treating that evening. He was a giraffe and loved every minute of it.

"He has deterioration in the white matter in the brain." "In hindsight," said the tech, "had we'd been looking for it, we would have seen it in the first MRI." We went to our November appointment with our neurologist, not yet having all our results back from the spinal tap. We made our December appointment. We were told that we had to make some tough decisions.

The day before Thanksgiving we were told that we were no longer looking for something treatable. We were looking what to call "it".

We went to our December appointment, December the fourth. We were told, "I'm so sorry. It progressed quicker than I have ever seen. I never thought we couldn't fix him." We were told that he may not see his first birthday, only two weeks away. We were told to call Hospice. They arrived at our house later that day. Our neighbor witnessed as we signed his DNR order.

Six days later he took his last bath, laughed at his daddy and gave him kisses.

Two days later, Grey died.

A week later we had his memorial, December 20th.

On December 31st, his autopsy revealed Krabbes.

It was that quick. Too quick to even diagnose.

It feels like forever ago, but it has only been two months, one week and five days.

All in less than a year.

Take Me Out To The Ball Game

Today marked the first day of Little League, with Seth having his first practice. When I got the call at 3:00 to let us know that practice was today at 5:00, I could have been irritated. But I wasn't. I was relieved. It would get me out of the house, and the mood, I was in.

Pulling into the fields I couldn't help but think about the miserable season we had last year. Seth hardly ever played. Practices were a chore. Parents on the team were strangers. I often chose to stay home during the games, with a yet undiagnosed Grey, who never seemed to enjoy his time in the bleachers. This even put a strain on Bill and I. I love Little League season, but this season was full of disappointments. How dare his sun not shine. It was a dark time.

But this season will be different. Two of my most caring friends met me at the field. One is Seth's coach. The other is his wife. You know how sometimes there are just people you connect with, even though you don't get to spend nearly the time with them that you would like? You just feel it. This would be them. Before Grey's death, it had been nearly a year since I had seen them. But when we needed them the most, there they were, at both Grey's memorial and benefit, with open arms, out of the blue.

So this afternoon, I ended up sitting in the sun, with my friends. I was able to talk, and listen, about Grey. But I was also able to forget about Grey's loss for a bit. I watched Seth play and laugh. I watched Ry enjoy time simply playing with ants and a stick while his brother practiced. Once again, life goes on. Sometimes, because of friends, it's just a little bit easier than others.

Hey Coach, make sure you check the pony this week. More DMB is one the way. I love you guys.

Forever Grey's Mom,

Nicole

www.huntershope.org

Please check out www.huntershope.org. Their support has been incredible! Grey's Bill will have a HB number by Friday. If passed, it will be named Greyson's Law.

Please spread the word to anybody and everybody. Names and numbers to support his Bill are on their site.

Yellow

Dear Grey Grey,

I love this song that's playing, "Yellow". It just reminds me of you.

Look at the stars
Look how they shine for you
And everything you do
They were all yellow
You came along
I wrote a song for you
And all the things you do
And it was called yellow
Your skin, your skin and bones
Turned in to something beautiful
You know, you know I love you so
You know I love you so

It's true the colors shine for you

The colors shine for you

You've always been my star. I feel closer to you, outside looking up at the sky. You shine so bright Little Man. You always will.

I can't believe you're gone. I'll think of you every time I look at my wrist. It's the best I could do, though it doesn't compare.

Love,
Forever Your Mom