Help us save Billy and Fight SMA

memoirs from mommyville mas memoirs    Help us save Billy and Fight SMA

I thought I’d use this post today to call attention to a disease that is taking a toll on our dear friend’s family.  Their son Billy has been fighting SMA for over 4 years now.  SMA is the number one genetic killer of children under the age of 2.  Billy is beating the odds but we’re running out of time to find a cure.  Please watch the following video and take a look at the courageous battle our friends wage every day.

You may never have heard of spinal muscular atrophy before, however it’s important to realize that SMA is the number one genetic killer of children under the age of 2. What is SMA? Spinal Muscular Atrophy.

Spinal Muscular Atrophy (SMA) refers to a group of diseases which affect the motor neurons of the spinal cord and brain stem. These critically important cells are responsible for supplying electrical and chemical messages to muscle cells. Without the proper input from the motor neurons, muscle cells can not function properly. The muscle cells will, therefore, become much smaller (atrophy) and will produce symptoms of muscle weakness. There are dozens of diseases which affect the motor neuron.

*Spinal Muscular Atrophy kills more babies than any other genetic disease.

Degeneration and death of the motor neurons (also called Anterior Horn Cells) in the brain stem and spinal cord produces weakness in the muscles of swallowing, breathing, and limbs. This disease afflicts infants, children, and adults worldwide. It is estimated that spinal muscular atrophy occurs in between one-in-6,000 and one-in-20,000 births. Recent advances in our understanding of the genetics of this disorder confirm that the majority of children and adults afflicted with SMA, have inherited this disorder by receiving one gene from both their mother and their father. This is termed autosomal recessive genetic transmission.

Between one-in-40 and one-in-80 “normal” men and women carry the gene for spinal muscular atrophy. If both a man and woman carry the gene, the chances are 25% that any of their children will manifest SMA.

Despite the fact that SMA was described many decades ago, there is still a great deal of confusion among patients, parents, and physicians as to the diagnosis, treatment, and genetic counseling which should be provided for those affected with this disease. Some of these questions have been answered by advances in the science of molecular genetics. We now know that the common forms of SMA are the result in a change in a gene located on chromosome #5. Even though we refer to “different types of SMA”, most of these are the result of a number of alterations (mutations) in the gene which are ultimately responsible for the degeneration or premature death of the anterior horn cells. It is still useful to think in terms of several different types of SMA to assist in guiding appropriate treatment, depending on whether the disease is severe or relatively benign. In virtually all cases of SMA, the symptoms are dominated by muscle weakness. There are no problems with sensation of the face, arms, or legs. Intelligence is unaffected, and in fact many physicians who have worked with hundreds of children with SMA are impressed that these children tend to be unusually alert, interactive, and socially gifted.

The above was written for Fight SMA by: Robert T. Leshner, M.D., Professor, Neurology and Pediatrics, Children’s National Medical Center

Here at Ma, What’s For Dinner we are committed to helping Billy and his family, and all the other families out there fighting, to find a cure.  It can happen and we can all help.  15% of all profits from the sale of our cookbook go straight to Fight SMA in Billy’s name to find a cure.  We hope you can help you can find out more at Fight SMA.

To order our book please click here memoirs from mommyville mas memoirs    Help us save Billy and Fight SMA

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Comments

  1. Stopping by from SITS. A coworker of mine has a niece and nephew with SMA. Good luck and hopeful thoughts going out to your friend.

  2. Thanks for commenting on my blog. Billy is in our thoughts. I hope they are able to find a cure.

  3. Stopping by from SITS and wishing you a great Friday :)

  4. Stopping by from SITS.

    I hope a cure is found before it’s too late for Billy. God bless.

    I’m tweeting this blog post. Hopefully it will help a little.

    Cheers :-)
    - CoconutPalmDesigns

  5. I hope they find a cure. Sending positive thoughts for Billy, his family, and everyone who cares about him.

  6. Hi Alex,

    Thank you for your message about a sign for Cooper. I would love to discuss this with you further. Can you tell me a little more about what you had in mind as far as a surf theme? Are you thinking a surfboard shape? Waves? An image of people surfing? And yes, the price will be the same as the others plus a shipping charge.

    If you could email me at coconutpalmdesigns@gmail.com I can give you more information as well as get some further ideas of what you are looking for including the color scheme of Cooper’s room.

    I look forward to hearing from you,
    Joanne
    CoconutPalmDesigns

    PS. Sorry to leave this in a comment but somehow I just can’t find your email address anywhere.

  7. Thanks for stopping by!

    This is a great site. I am mommy of four and two out of the four are picky eaters. Maybe if I did get them in the kitchen with me to help prepare dinner they’d eat the food they helped make.

  8. Your offer is one of my great posts of the week. I wanted to help about Billy out.

    http://www.jdaniel4smom.com/2010/03/great-posts-i-came-across-this-week.html

  9. Happy SITS Saturday Sharefest.

  10. Best wishes for your support for Billy.

    Happy St Patrick’s Day from N Ireland – enjoy your corned beef and celebrations :)

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