Krabbe disease ia rare genetic disorder of the nervous system. It is a type of leukodystrophy. Krabbe disease is caused by a defect in the GALC gene. Persons with this gene defect do not make enough of a substance called galactocerebroside beta-galactosidase (galactosylceramidase).
The body needs this substance to make myelin, the material that surrounds and protects nerve fibers. Without it, myelin breaks down, brain cells die, and nerves in the brain and other body areas do not work properly.
There are two forms of Krabbe disease. Early-onset Krabbe disease appears in the first months of life. Most children with form of the disease die before they reach age 2. Late-onset Krabbe disease begins in late childhood or early adolescence.
There is no specific treatment for Krabbe disease. Some people have had a bone marrow transplant in the early stages of the disease, but this treatment has risks.
The video below is about Judson's story who has Krabbe disease.
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God Bless
January 16, 2011
January 15, 2011
The Jacob's Cure Story
Jacob has Canavan disease. Caravan disease ia an inherited condition that affects the breakdown and use (metabolism) of aspartic acid. The lack of the enzyme, aspartoacylase, leads to buildup of material called N-acetylaspartic acid in the brain. This causes the white matter of the brain to break down and deteriorate.
Symptoms usually begin in the first year of life. Parents tend to notice when a child is not reaching certain developmental milestones, including head control.
As for treatment it is aimed to ease the symptoms of the disease. There is no specific treatment.
Please take a look at the video to learn more.
God Bless
Symptoms usually begin in the first year of life. Parents tend to notice when a child is not reaching certain developmental milestones, including head control.
As for treatment it is aimed to ease the symptoms of the disease. There is no specific treatment.
Please take a look at the video to learn more.
God Bless
January 14, 2011
The Batten Journey
Batten Disease is one of the 7000 rare diseases affecting our children.
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God Bless
January 13, 2011
Fishing for Charities Tournament Trail Featured in Online Fishermen Magazine
The Online Outdoorsmen magazine, Online Fishermen, recently published a story about Fishing for Charities, a fishing tournament trail which raises funds for charitable causes, including Niemann-Pick Disease. Dwayne Linkous, father of 14-year-old Raiden Linkous (NPC), coordinates the tournament trail with the help of some good friends and fishing buddies.Check out the story on the Online Fishermen (scroll to pages 46-47) or visit the NNPDF's NewsLine page for a link to a JPG of the article.
The NNPDF will be the recipient of funds raised on May 28, 2011, at Claytor Lake, Virginia, in honor of Raiden Linkous (NPC).
Taken from the NNPDF blog
For full details including registration information, rules, etc., please visit http://www.fishingforcharities.net/."
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New Year New Hope
Now with the Holidays behind us and a new year ahead I look for new hope. Hope that the doctors and researches with come up with a promising treatment for Niemann Pick Type C (NPC) and that it can be made for all children affected by this horrible disease. Over the past couple of years there has been a lot of talk about Cyclodextrin treating NPC. Chris and Hugh Hempel and Bryan and Laura Hadley have both their children on it. I have talked to Dr. Patterson about it many times and he feels there is not enough data to support the effects of Cyclodextrin on NPC to put Tylor through the procedures. But on the other hand how can we just sit here and do nothing? I am in the process of doing more research and will be contacting the Hempels and the Hadleys about the results they are seeing with their children. We are going back to Mayo in February and I plan on talking to Dr. Patterson about this again. The biggest hurdle will be going to the FDA for approval but if the Hempels and Hadleys got it done I am sure they will have some advise for us.
Some of you may be wondering what Cyclodextrin is. Cyclodextrin is a sugar molecule used in common food and household products like Febreze® Fabric Refresher called Hydroxypropyl Beta Cyclodextrin(HPßCD). To find out more please visit the CTD Holdings, Inc website.
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Wear Jeans to help 30 million people
Do you love to wear jeans? I know I do!! Well here is your chance to help make a difference on World Rare Disease Day on February 28th 2011. This is a way for all of us to get involved in the World of Rare. But when I say rare after looking at the numbers rare isn't so rare! There are over 7000 rare diseases, affecting 30 million people in the US alone!! And of those 30 million people 75% of them are children. So as I said before RARE isn't so RARE is it?
But spreading the word can be as simple as wearing a pair of jeans. So I challenge you to get your friends, family, and co-workers involved for World Rare Disease Day on February 28th 2011!!
Please take the time to view the video below. It is about a little boy who has a rare skin disease. I am going to be posting videos from families with children with different rare diseases until World Rare Disease Day.
God Bless
But spreading the word can be as simple as wearing a pair of jeans. So I challenge you to get your friends, family, and co-workers involved for World Rare Disease Day on February 28th 2011!!
Please take the time to view the video below. It is about a little boy who has a rare skin disease. I am going to be posting videos from families with children with different rare diseases until World Rare Disease Day.
God Bless
January 12, 2011
3rd Annual World Rare Disease Day
Chris Hempel is very active in searching for a cure for Niemann Pick Type C (NPC) and other rare diseases. Chris has twin daughters, Addi and Cassi, who have NPC. She has huddled many obstacles over the past couple of years. Chris and Hugh along with other families, like the Hadleys, and a team of reachers started SOAR (Support of Accelerated Research). She and her husband are working very hard for all the NPC families and I thank them for that. NPC research continues to move forward and with parents like Chris and Hugh there is no way but UP.
By: Chris Hempel
"The National Institutes of Health (NIH) will celebrate the 3rd World Rare Disease Day on February 28, 2011, with a day-long celebration and recognition of the various rare diseases research activities. The event will be held in the Lipsett Amphitheater from 8:30am to 5:15pm. Dr. Francis Collins is expected to speak. A tentative agenda has been posted.
In association with the Global Genes Project, the NIH Office of Rare Diseases Research is encouraging all attendees to wear their favorite pair of jeans to the event to support the Global Genes Project awareness campaign. The Global Genes Project awareness campaign is designed around a denim blue jeans theme and a blue denim ribbon which has become the unifying symbol of hope for the rare disease community worldwide. Check out our kid volunteers who make ribbons!
Denim blue ribbons will be distributed at the event and the Global Genes Project will be bringing some of the 7000 Bracelets of Hope which have also been made by volunteers around the world to represent the 7000 rare diseases that afflict an estimated 250 million people globally.
Supporters from the NIH Clinical Center, the NIH Institutes and Centers, the Health Resources and Services Administration (HRSA), the Food & Drug Administration’s Office of Orphan Product Development (OOPD), the National Organization for Rare Disorders (NORD), and the Genetic Alliance will also be at the event.
Attendance is free and open to the public. Unfortunately, I will not be able to attend as Pfizer is holding a World Rare Disease Day 2011 event the same day and I have been invited to speak along with other rare disease advocates."
"The National Institutes of Health (NIH) will celebrate the 3rd World Rare Disease Day on February 28, 2011, with a day-long celebration and recognition of the various rare diseases research activities. The event will be held in the Lipsett Amphitheater from 8:30am to 5:15pm. Dr. Francis Collins is expected to speak. A tentative agenda has been posted.
In association with the Global Genes Project, the NIH Office of Rare Diseases Research is encouraging all attendees to wear their favorite pair of jeans to the event to support the Global Genes Project awareness campaign. The Global Genes Project awareness campaign is designed around a denim blue jeans theme and a blue denim ribbon which has become the unifying symbol of hope for the rare disease community worldwide. Check out our kid volunteers who make ribbons!
Denim blue ribbons will be distributed at the event and the Global Genes Project will be bringing some of the 7000 Bracelets of Hope which have also been made by volunteers around the world to represent the 7000 rare diseases that afflict an estimated 250 million people globally.
Supporters from the NIH Clinical Center, the NIH Institutes and Centers, the Health Resources and Services Administration (HRSA), the Food & Drug Administration’s Office of Orphan Product Development (OOPD), the National Organization for Rare Disorders (NORD), and the Genetic Alliance will also be at the event.
Attendance is free and open to the public. Unfortunately, I will not be able to attend as Pfizer is holding a World Rare Disease Day 2011 event the same day and I have been invited to speak along with other rare disease advocates."
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