Rare Disease Awareness Network

Together We Can
NOVEMBER 18, 2012 VOLUME 8, NUMBER 1

Welcome!
Hello again! We have just wrapped up our second official Board meeting and we got so much accomplished. We looked back at our accomplishments and we looked forward and set goals for the future. I get so excited and so inspired after our meetings and have such a renewed sense of purpose afterwards. We looked at our mission which is to provide awareness, advocacy, and education and broke those down into steps that we can tackle. It will still take a few more meeting before we iron out a specific course of action, but all good things come with time and effort. Stay tuned for good things are coming soon! Our mission is to provide awareness, advocacy, and education regarding all aspects of Rare Diseases.

In the news:
Rare Disease Day 2013
It may seem a bit odd to be looking ahead to 2013 in our November newsletter, but it will be here before we know it! Rare Disease Day is an international event that takes place on the last day of February each year. We only have 101 days left before we celebrate once again. I haven't seen a theme that is different from last year's so I assume it was so popular; it will be around for a second year. It is: "Alone we are rare. Together we are strong." We need to make sure that keep that in mind and help to build a strong foundation on which we can build awareness for all those affected by Rare Disease. It definitely goes with our slogan as well: "Together we can!" So, you may be wondering what we are doing to mark this very special event. We are bringing back, by popular demand, our extremely successful Rare Disease Discount Day. Local businesses gave a 10% discount on Rare Disease Day to honor and celebrate the 10% of the American population that has been diagnosed with a Rare Disease. When customers asked why they were getting a discount, they were made aware of the Rare Disease cause. Countless numbers of people were informed, educated, and made aware last year that we had to repeat it! Not to mention that it was an absolute blast for patrons, clients, and local vendors!! If you have a business, or know of a business that may be interested in participating, please let us know through our Facebook page or by email at savebecka@comcast.net. We look forward to an even bigger event than last year!

November Calendar
Pancreatic Cancer Awareness Month American Diabetes Month Lung Cancer Awareness Month COPD Awareness Month National Alzheimer's Awareness Month National Hospice Palliative Care Month National Stomach Cancer Awareness Month November 18-24 National Gastroesophageal Reflux Disease Awareness Week

Spotlight on Dylan
Written By Erica and David Jouppi At 20 weeks pregnant, we had the infamous ultrasound where we would find out if we were having a boy or a girl. We were told we were expecting a baby boy! We were so excited! But a few hours after leaving the doctor's office, I received a phone call telling me something didn't look right with the baby's head and they suggested we see a high risk doctor. Another ultrasound was done and we were told our baby had a rare neural tube defect called an encephalocele. We were told this was a condition where the bones of the skull do not close completely, creating a gap through which cerebral spinal fluid and/or brain tissue can protrude into a sac-like formation. We were told a lot of babies don't make it to term and a large percentage of the ones that do are stillborn. We were told if he survived, his quality of life was unknown at this point but it was quite possible that he could be comatose. We were offered termination. We were devastated. How could this happen to us?! We did EVERYTHING possible for a healthy pregnancy and baby. Despite the odds, we chose to continue the pregnancy. We had a fetal MRI at 32 weeks, where it was suspected that Dylan also had Dandy-Walker Syndrome. The last four months were very stressful. Dylan was monitored closely, his encephalocele did get a little bigger as he grew, but we were told that it appeared to contain only fluid and not brain tissue. We were told this usually has a better prognosis, but doctors were still reserved. Finally the big day arrived. Dylan was born by a planned C-section on March 16th, 2010. We only got a glimpse of him before he was whisked away to NICU. We were just happy that he was born alive and was able to breathe on his own. The next 15 days were the longest days of our lives. He spent the days in NICU having every possible test and scan run on him. The suspected diagnosis of Dandy-Walker Syndrome was confirmed at birth with an MRI. He was also diagnosed with mild hydrocephalus and had surgery, placing a VP shunt when he was only eight days old. He had some feeding issues while in NICU and he was on a feeding tube for a while. But FINALLY the day came that we got to take him home, no feeding tubes, no extra equipment! Ultimately, we decided it was best that I leave my job where I had been employed for the last 11 years to stay home with Dylan full time. It has definitely been an adjustment, but it is the best decision I ever made. Dylan didnt have surgery to repair the encephalocele until he was 6 months old and he has had numerous surgeries already. In May of 2012, we found out Dylan was also born with Klippel-Feil Syndrome. Dylan is the happiest little boy ever; we like to call him abnormally happy. Today, he is a happy, highly intelligent, 2 year old who loves cars, balls, Elmo and Mickey Mouse. He has defied so many odds and continues to amaze doctors, therapists and people every day! He was definitely a life worth saving. He is our little miracle baby and we are so lucky to be his parents!

Dylan has more than one diagnosis. His health is complicated by a few Rare Diseases and one more common illness. They include:
1. 2.

Encephalocele Dandy-Walker Syndrome Klippel-Feil Syndrome Asthma

3.

4.

RDAN Dinners to share with a friend in need

Thanksgiving Spaghetti and Meatballs
Ingredients: 1 lb. Spaghetti, whole grain or whole wheat Salt and freshly ground black pepper 1 c. dry whole grain stuffing mix 3 c. low sodium turkey or chicken stock, divided 1 lb. extra lean ground turkey breast Flat-leaf parsley, chopped 1 medium Golden Delicious apple, peeled, core, finely diced 3 TB. Light butter spread 1 TB. Worcestershire sauce 2 celery ribs from the heart, chopped 1 small onion, finely chopped 1 TB. Poultry seasoning c. egg substitute Olive oil cooking spray pound mushrooms (crimini, button, or alike) thinly sliced Few sprigs fresh thyme leaves, stripped, chopped 2 TB. Whole wheat flour c. fat free half-and-half

RDAN Board: Rebecca Alves, President Susan Green, VP Jamie Alves, Secretary Jennifer DaCosta, Treasurer Patricia McArdle Esq., Director Dawn Richards RN, Director Rosemary Arruda, Director Liz Costa, Director Jennifer Bolarinho, Director Colin McArdle, Director

Directions: Heat oven to 425 degrees. Bring water to a boil in a large pasta pot. Soak stuffing mix in 1 cup of stock in a small bowl until softened, a couple of minutes. Place turkey in a mixing bowl and season with salt and pepper. Add celery, apple, onion, stuffing mix, poultry seasoning, egg substitute and mix until just combined. Line a baking sheet with parchment paper. Form 16 (2-inch) meatballs, spray with olive oil and roast in the oven until cooked through, firm, and golden (about 12 minutes). Meanwhile, after the meatballs have been in the oven for 4-5 minutes, salt the pasta water and cook the spaghetti according to the package directions. Drain pasta and keep warm. While meatballs roast, spray a large skillet with cooking spray, and heat over medium-high heat. Add mushrooms and thyme and cook until tender. Season with salt and pepper. Make a well in the center of the skillet. Add the butter, and when melted whisk in the flour. Cook for 1 minute. Then whisk in 2 cups of stock and Worcestershire sauce. Reduce heat to low and cook for a few minutes to thicken the sauce. Then stir in half-and-half. Toss pasta in a large serving bowl with the meatballs and sauce. Garnish with parsley and serve. We would like to thank our friends at Kitchen Dreaming for sharing this tasty and seasonal recipe. Please visit them at: www.KitchenDreaming.com to follow their blog or "like" them on Facebook. They just posted an Autumn Spice Cake that would

be delish after this meal!

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 Acushnet, Massachusetts 02743

Facebook:
Come join our facebook family!! Like us at www.facebook.com/SaveBecka. sure to invite your family and friends to like us too! Be

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!