February 28th is Rare Disease Awareness Day, but we can do more all year!
Today is Rare Disease Day. This is an international advocacy day to raise awareness about rare diseases. In the United States a rare disease is classified as something that affects less than 200,000 people. The definition is different in Europe.
Rare Disease day originated in Europe by EURORDIS, the European Rare Disease Organization, in 2008. In 2009 the asked NORD, the National Organization for Rare Disorders, to join them in their fight. In 2010 over 46 countries participated in Rare Disease Day.
Neuronal Ceroid Lipofuscinosis: This is the Rare Disease I want to share with you today. It is a lysosomal storage disorder. That means about as much to you as it does to me, and I know what I'm talking about. Let's make it a little simpler. This is in actuality a group of disorders, but being as the name is so hard to remember and pronounce, they've come up with a "catch-all" name, and this disease is referred to as Battens Disease.
An estimated 2-4 of every 100,000 births in the United States will be affected by Battens Disease. It is considered a rare disease. It is a disease that affects primarily children. And it is 100% fatal. There is no cure for this horrible disease, there is no prevention either.
These children are born appearing completely "normal" and healthy. There are several forms of Battens Disease, so its appearance is different in each case.
The first form is Infantile NCL. This appears between 6 months of age and 2 years, and progresses rapidly. The child fails to thrive, generally will have a small head, will not develop proper motor skills. They will then begin to have seizures and other motor disorders. This form has the most rapid progression, and these children will only live to mid-childhood years.
The second form is late Infantile NCL. This will appear between ages 2-4. It will begin with loss of muscle coordination, seizures, mental deterioration. This form also progresses rapidly, and these children will live to be only between 8-12 typically.
Juvenile NCL begins between the ages of 5-8 and starts usually with clumsiness, progressive vision loss, seizures, and mental deterioration. This form progresses a little less rapidly, and these people may live to late teens, or early 20's. There have been some rare instances where they have lived to the 30's.
There is a small occurrence of Adult NCL, which begins after age 40, progresses less rapidly than all the rest, and does not always cause total blindness, but it does significantly lower life expectancy in the individual.
As I said before, there is no known cure for this disease. Certain symptoms can be controlled, seizures for example, be anti-seizure medications. There has been some small success with dietary experimentation perhaps slowing the progression in those children that took Vitamins C & E, and a diet low in vitamin A.
Why did I pick Battens Disease for my focus on Rare Disease Day? Because it lives up the street from me, in the family of some people I've come to know and respect. Imagine, if you will, you've given birth to a lovely, apparently healthy son. You are happier than you ever thought you could be. Your child is growing, he is intelligent, he begins school. He is tested at slightly above average intelligence. All is good with your world. And then your child begins to go blind. You travel to several doctors, have scores of tests done, and yet nobody can give you a reason why your child is losing his eyesight. You are devastated for him. He continues to grow, and soon, his behavior changes as well. He begins to have behavioral issues. Anger outbursts, back-talking, etc. You are confused. What is happening to your child.
This is what the family I've come to know and respect went through with their son. He was born healthy, no problems with delivery, nothing wrong whatsoever. And then, he began losing his sight at age 5. Through the course of time he went completely blind. It was actually at an interview to put him into a school for the blind that Battens Disease was first discussed. As this is one of the first symptoms almost all Batten children develop, it's something the lady at the school for the blind had become aware of. At the time this happened, their son was about 12. Batten Disease was so rare in the United States, and so hard to diagnose, at that time, there was only one place in the U.S. you could get testing results from. So this family had blood tests done on their son, and then had to wait an agonizing 6 weeks for results.
Things have changed since then. Although there is no cure or prevention, more is known about Battens Disease. They have identified the gene that causes the forms of Battens. They know the proteins involved for some forms of Battens. There are more tests that can be done to perhaps at least point to the disease. That is why it is so important to get the word out about this disease. With each dollar given to research the opportunity to know more and to, hopefully, find a cure becomes a viable option. These children and their families deserve a chance at life.
The wonderful family I talked about above is a prime example of love and dedication to one another. If the weather is nice, you can bet you will find them either sitting on their porch with their son, who is now 21, enjoying the sun, or you will find one or the other of his parents pushing him along the street in his wheelchair. Just the other day I saw his mother pushing him in his chair, enjoying a rare "warmer" day here in Northern Illinois where we live. Pushing him, walking their new puppy, enjoying her son. But even in the midst of their own trials, these people still reach out to others. They are volunteers on our local fire department. And they are the first ones there in times of trouble. When my brother-in-law passed away last March, this lovely woman was the first one at my sisters house the next day, bringing sandwiches and soda and asking if there was anything else she could do. When my husband was diagnosed with Multiple Sclerosis and was unable to work, they were the first in line, donating soda and more to a benefit the fire department had in his honor, as well as serving and working the whole event. Those are just two examples of the many I could relay to you about what these people do for others and for their community. You get the point. They deserve our help and our support in spreading the word as much as we can.
So get out there, post it on Facebook, Tweet it, put it on your blog, your webpage, tell your neighbors and your friends. Today is Rare Disease Day. Give of your money, your time, your prayers for those affected by a rare disease. Thank you for your help!
Watch the video below
This is a wonderful young man named Noah Coughlan. He comes from Vacaville, CA. On February 28th, 2011 this wonderful young man began a journey across the United States. He started near San Diego, California, and he will be running/walking across the United States to Jacksonville, Florida to help raise awareness and funds for Batten Disease.This is a journey of approximately 2400 miles. He has given himself until July 7th to complete this task. He also has a website that you can follow his progress on. What an inspiring young man! The world needs more like him.
Please do all you can to spread the word of this journey, and this disease to everyone you know. If we all gave a dollar, think of the research that would fund. That is my challenge to you all, to spread the word.
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