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Rare Disease Awareness Network

Together We Can…

Hello again! Welcome to our December edition of Rare Disease Awareness Network's newsletter! This edition is perhaps our largest newsletter yet. We have a very touching story of strength, courage, and perseverance in our "Spotlight" section. We also did a little reflecting on our accomplishments and hopes and dreams. We realize it is a very busy time of the year and we thank you from the bottom of our hearts for taking a few minutes out of your schedule to read our newsletter. Please feel free to share with any and all who you feel may enjoy being a part of our efforts to spread the word about Rare Disease Awareness. Thanks!! Our mission is to provide awareness, advocacy, and education regarding all aspects of Rare Diseases.

Tis the Season:

As we approach the New Year and we all start to reflect on where we have been and where we are headed, Rare Disease Awareness Network would like to take a moment to reflect on how much you have helped us accomplish this past year and reflect on where we think we will be going in the year to come! We would like to highlight a few of our successes of the past year: officially becoming a non-profit organization; launching a very successful awareness campaign where we have all totally embraced the zebra stripes as our awareness colors; participating in our first Rare Disease Day; speaking at Pfizer Pharmaceuticals; creating a Board of Directors; and most importantly, coming together as a community! What a year it has been!! Looking ahead to the year to come, we see so much more happening! It is nice to know that we have your support because there will be plenty of opportunities to have you help out!! We are hoping to participate in our second Rare Disease Day in February; host a blood drive; continue to spread awareness and broaden our community of supporters; perhaps get the 5K up and running; and sponsor many educational events that will bring Rare Disease Awareness to the forefront of everyone's minds.

Spotlight on… Biliary Atresia (BA)
My 3rd daughter, Julian, the last of 6 children, was born May 26, 2010. She was beautiful and sailed through well-baby check-ups, but something in the back of my mind always haunted me. The whites of her eyes were yellow. Her skin was tawny in color. She was terribly thin. She didn’t look healthy. We were in front of doctor after doctor looking for options as to what was wrong. We were told that she had “Baby Jaundice” and “Let her sleep in the sun." I thank God that I had 20 years of mothering under my belt. If I had been a new mom, I probably wouldn't have questioned the doctors and the end of this story would be quite different.

Written By Gretchen Deircks

There is a simple test - a heel stick of a couple drops of blood at any well-baby checkup that can measure the amount of bilirubin in a baby's blood. The CDC has known of this test since 1995, but ruled that because BA only affects 1 in 10,000 babies, it is unfair to make the cost of the test mandatory. The sad truth: BA kills 33% of its victims before their 3rd month of life. Another 33% of BA babies die before their 1st birthday. If you look at the average number of babies born each year, it’s roughly 17,885 babies born with BA. The mortality rate is about 11,804 deceased before their 1st birthday. Since the CDC’s decision in 1995, approximately 304,045 babies were born with BA. 200,669 of them died. Prolonged baby jaundice coupled with slow weight gain or pale stools are all direct indications of BA. Most doctors have never heard of it.

A pediatrician, with just a glance at Julian, told me “Your daughter is very sick.” She sent us that night to be admitted into Children’s Hospital where her case was taken over by a specialist in Gastroenterology. Over the next two weeks, there was testing and more testing: special nuclear dyes to make her glow, ultrasounds, CTs, MRIs. It was torture to an infant only 16 weeks old. Finally, a diagnosis: our Gastroenterologist told me it was Biliary Atresia (BA). I was like, “Great! Let’s fix it!” Nope. The doctor gave me the truth. There is not a cure for BA. There is no treatment. They were going to try to do the Kasai procedure, but for it to be successful, the surgery must be done before the 8th week of life. Julian, at 16 weeks, was too old. The Kasai did fail and we were sent to transplant for a new liver October 27, 2010. Gone was the simple life. Welcome to "The Battle." After watching my daughter fight to live over the next 6 months of chronic infections and hospitalizations from the failing liver due to BA, she got "the call” for her transplant of a perfect match. Unfortunately the liver died inside her causing liver encephalopathy, a condition whereby the ammonia in her blood rose to such toxic levels that it caused her brain to swell and exposed her to mental retardation. Her kidneys failed and she was placed on dialysis. The machines did her breathing. Her PICU team had to suspend her in a medical coma to spare her the extreme mental and physical pain and keep her “alive” long enough for her next liver transplant, which came 7 days later. An incompatible liver of AB blood type was placed in my daughter’s O blood type body. The “War of the Worlds” began inside her. The AB Liver viewed her O blood as the enemy and began killing it causing a series of other medical problems like low blood pressure and scarring to the kidneys. The liver was in constant rejection and her blood started to clump together making dangerous clots. At 10 months of age, Julian has seen more health issues than most 80 year old people see in a lifetime. And we still had that “other 33% that don’t make it to their 1st birthday" creeping around the room. During that period, she coded five times and it became very real that that statistic could be closer than we wanted to realize. Yet, after completing the Methadone recovery program, her GA team sent her home still in chronic rejection. Julian, was malnourished, showed signs of drug addiction, chronic liver rejection, Stage 1 kidney failure and low blood pressure. Back home in Texas she was immediately rehospitalized in an attempt to get her stable and their methods were working. I began teaching her to eat again. The months of intubations (breathing machine) caused the muscles that she needed to swallow to become under-developed. She began to learn to sit up, drink from a bottle, and graduated to small foods. Her liver and blood weren’t doing so great, but every day she made progress. Then Julian made another milestone: she turned ONE. The day so many prayed for but statistically was against her, was finally here. No sooner did we start to feel confident and rejoice when Julian took another turn for the worse ending with her back on life support in PICU. This time it was her small and large intestines. During the 2nd transplant, they were not secured back properly resulting in them becoming knotted and twisted around themselves. Another surgery began. The process took the surgeon 6 hours and left Julian with Short-Gut Syndrome where much of the intestines were dead and were removed. We started back at square one in so many ways. It was heartbreaking. However, we had a new turn in the journey of helping Julian reach her goal: Battle BA and survive transplant. Julian has had other setbacks, but all in all, Julian has learned to walk through extensive physical therapy and she is scheduled for speech therapy. She made 2 more milestones: her 1st transplant anniversary and then her 2nd birthday. She is an inspiration. She has an undying need to dance and her laugh is intoxicating. I don’t know what her future holds, but she and her donor have made peace with each other. Julian always takes “problems” as “no problem” and she seldom travels faster than her Guardian Angel anymore.

Rare Disease Day 2013
We are hoping that we can ask for your assistance with our second annual Rare Disease Day events. As you may recall, 10% of the American population has been diagnosed with a Rare Disease. To help spread the word, we are asking that retailers and business owners provide customers with a 10% discount on February 28th. When customers ask why they are getting a discount, we are hoping businesses will provide a bit of informational materials concerning Rare Disease Awareness. So, you may be wondering how you can help?? First, we are looking for business owners who would like to participate. Second, we are looking for "Regional Captains" who would like to spearhead the event in their area. The beauty of this event is that it can happen anywhere in the world. The more businesses that we get on board means more people who are made aware of the cause. In turn, that means greater hope, greater compassion, and a greater understanding of Rare Diseases. Would you be willing to assist us? Please send an email to if you are willing and able!! It would mean so much to so many! Thanks a bunch!!

RDAN Dinners to share with a friend in need
Hot Cocoa
Okay…so this one isn't really a dinner, but it is an excellent treat that is definitely worthy of sharing with a friend! It is certainly a pick-me-up and helps to promote family time if you add some marshmallows and share it with your children. Enjoy! Ingredients: 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

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2 cups powdered sugar 1 cup cocoa (Dutch-process preferred) 2 1/2 cups powdered milk 1 teaspoon salt 2 teaspoons cornstarch 1 pinch cayenne pepper, or more to taste Hot water

Directions: Combine all ingredients in a mixing bowl and incorporate evenly. In a small pot, heat 4 to 6 cups of water. Fill your mug half full with the mixture and pour in hot water. Stir to combine. Seal the rest in an airtight container, keeps indefinitely in the pantry. This also works great with warm milk.

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

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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!