Rare Disease Awareness Network

Together We Can…
JULY 15, 2012 VOLUME 4, NUMBER 1

Welcome!
Welcome to our fourth edition of the Rare Disease Awareness Network’s newsletter. Since our last edition, we have held our very first Rare Disease Awareness Network’s Board meeting. We had a lovely location at Horseneck Beach hosted by Dawn Richards, one of our Directors. How will we ever top that location??? Thanks so much, Dawn, for your hospitality and for setting the bar so high! So, we have officially adopted our Bylaws and the Conflict of Interest policy. We have officially appointed roles and approved job descriptions. We have officially sent in the IRS forms. I guess, we can officially say we are officially a nonprofit! LOL! Our mission is to provide awareness, advocacy, and education regarding all aspects of Rare Diseases.

Behind the Scenes…
Meet Ronda Eagle: Our Go-To Gal
If every organization doesn’t have a Ronda Eagle, then they definitely need one! Ronda has been a member of our Facebook family since February. She lives in South Carolina with her husband, James, and children, Sabrina and Jacob. Although she lives pretty far away from our home base in Massachusetts, she is ever present and always ready to tackle any challenge we throw at her. If I mention something in a post, she is the one that makes it come to life with graphics and photos. As soon as I email her the newsletter, she makes it appear online through the scribd site. She lines up our “spotlight” section features and is constantly on the lookout for new people and groups and organizations to encourage to join RDAN. Basically, without her ambition, determination, compassion, and problem-solving skills…we would be nowhere! Thanks so much, Ronda!!

Did you know? July is Juvenile Arthritis Awareness month. RDAN supports our friend Rylan and all other children who suffer from Systemic Onset Juvenile Idiopathic Arthritis. Hugs go out to you this month, Rylan!

Cooking with a Cause!
Kelly posted this picture on our FB page. They looked so yummy we had to give them a try! Do you have an idea to share? Please send it, post it, or email it. Thanks so much for sharing!! Step One: Buy premade cookie dough in the cooler section of your grocery store. Step Two: Add a few drops of red food coloring. Mix well. Step Three: Make small 1 inch balls with the dough and roll them in a red decorating sugar. Step Four: Bake the cookies according to the package directions. While they bake, unwrap your Hershey Hugs. Step Five: After pulling the cookies out of the oven, add your Hershey Kiss. Push down slightly. Cool.

Spotlight on… Klippel-Feil Syndrome (KFS): Two Stories
Written By Sharon Rose Nissley and Allison Jolley

~*~*~*~*~*~*~*~ Sharon Rose ~*~*~*~*~*~*~*~

Sharon Rose and Allison are members of our Facebook family. Sharon Rose has started a KFS Facebook page of her own: Klippel-Feil Syndrome Alliance. As she says, “Alliance is key!” Be sure to look them up. KFS symptoms include:
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I was diagnosed with Klippel-Feil Syndrome (KFS) at 38 years old. I began having pain in my neck and shoulders that became extreme. An x-ray was done. I am now 41. As a child, my biggest limitation was deformed knee joints. I had four surgeries to correct my knees as much as possible. The only other thing I could not do was a somersault because I could not tuck in my neck. This is because my neck has only 3 moving vertebrae when the normal neck has 7. I actually suffered two concussions as a child which is dangerous because KFS necks are fragile and can break easily. Shortly after I was diagnosed with KFS, I was experiencing ongoing head pain. I was sitting at my desk at work when I became disoriented. My mind and senses were like a computer that had gone haywire. I turned to tell my coworker that something was very wrong and the whole room spun. My head pain was extreme. My thinking was off. My boss drove me home. I put up a good front because I probably should have gone straight to the ER. At home I was nauseous and so sick. Part of me was worried it was very serious. I ended up staying on the couch and made it through. This sensation lasted a month and nothing I took would take it away. I missed a lot of work which added to my stress. I went from doctor to doctor and nobody could help. Finally a headache doctor put the right combo of meds together to help my constant pain and symptoms. Within a month it returned. I live with these symptoms daily and medications help take the worst edge off. With bulging disks and stenosis at every free vertebra my nerves are being pinched. I have a lesion in my spinal cord and one in the brain. I am often exhausted. My arms, hands, head, face, neck, and back go numb, tingle, or spasm. No position is comfortable and driving is difficult. I have spent weeks in the hospital and I have tried many therapies and medications. Finding treatment to alleviate the pain has been an ongoing challenge. At this time, surgery is not an option because of the unknown complexities in my KFS neck. Some days are easier than others and a neuro-psychologist helps me cope. Many remark that you would never know I am in pain. ~*~*~*~*~*~*~*~ Thomas ~*~*~*~*~*~*~*~ Thomas is my beautiful two year old son who was born four weeks early but healthy and ready to start his life in this world. An early indication that Thomas was going to face challenges was when he failed his infant hearing screen test. The doctors tried to comfort us with how common it was, but as months passed, the truth revealed itself that he had hearing loss and surgery was needed. Later, what we thought was going to be our biggest obstacle became miniscule as we soon learned as he developed that Thomas suffered from many congenital anomalies. The most recent diagnosis from our geneticists is Klippel-Feil Syndrome (fused vertebrae), Wildervanck Syndrome which encompasses Duane Syndrome (affecting his eyes), and his hearing loss. All of his abnormalities appear to be something that can be overcome or compensated for in one way or another in today’s medical community, except for the Klippel-Feil. The unknown of his future and what his bones will do as he continues to grow are what send me to my knees praying that answers will be found and that my son will have hope in his future.

Fused vertebrae in neck Abnormally short neck Restricted head movement Scoliosis Skeletal malformations Absent ribs Structural abnormalities of heart or kidneys Webbing of digits

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There are so many animals that begin with “zebra” in their names. Here are just a few examples: Zebra Bull Shark Zebra Dove Zebra Moray Eel Zebra Periwinkle Zebra Crab Zebra Lion Fish Zebra Perch Zebra Cricket Zebra Caterpillar Moth

What's in a name…
A month or two ago, we told you why zebra print is the awareness colors for the Rare Disease cause. Apparently, medical students are taught the adage, “When you hear hoof beats think horse, not zebra.” That teaches new doctors to look for the most common illnesses first (the horse) because it is hardly ever the rare one (zebra). That got me to thinking about other animals that have the word “zebra” in them that the med students would really never think of! A quick search of the internet led to the following…and a whole lot more! Just thought we would share a few with you!

Top Left: Zebra Tail Lizard Above: Zebra Mussel Far Left: Zebra Finch Left: Zebra Seahorse

Contact Information:
Please feel free to contact us at any time. Send us an email at savebecka@comcast.net. Also, we can be reached through the mail at: Rare Disease Awareness Network PO Box 30061 Rare Disease Awareness Network PO Box 30061 Acushnet, MA 02743 Acushnet, Massachusetts 02743

Facebook:
Come join our facebook family!! “Like” us at www.facebook.com/SaveBecka. Be sure to let your family and friends know about us too!

Thank You!!
We cannot thank you enough for your support!! We hope you have enjoyed a few moments with us and hope you will be back for more next month! Is there anything you would like to see in the August RDAN newsletter? Let us know! Thanks a bunch!!