Rare Disease Awareness Network

Together We Can
MARCH 29, 2013 VOLUME 12, NUMBER 1

Welcome!
Hello again! Welcome to our March edition of Rare Disease Awareness Network's newsletter! We have had such a great month. We had our blood drive and collected 61 pints of blood and had over 70 people attempt to donate. We also had our Rare Disease Day Discount Event and it was even bigger than last year! We cannot thank you enough for participating!! Please feel free to share this newsletter with any and all who you feel may enjoy being a part of our efforts to spread the word about Rare Disease Awareness. Thanks!!

Building Partnerships:
Our mission is to provide awareness, advocacy, and education regarding all aspects of Rare Diseases. We would like to welcome PharmaHealth Pharmacy to our growing list of partners. After reading about our successful Rare Disease Day events, they reached out to us to see how they can support our awareness efforts. We are looking forward to partnering with them on fundraising efforts, awareness events, and patient advocacy.

Congratulations!
Rare Disease Awareness Network's President, Rebecca Alves, recently spoke on behalf of RDAN before the Board of Selectmen in Acushnet. She was asked to explain a bit about the organization, our efforts, and Rare Disease Day. After the presentation, the Selectmen offered the support of the Town in helping to support our mission. They also presented Becka with an official citation extending congratulations to her for her "dedication in spreading knowledge on Rare Disease Day." Keep up the good work, Becka!

Spotlight on Ataxia Telangiectasia (A-T)

Written By Terri Hall Little On October 8, 2003, a precious little girl entered this world. Her parents named her Alana Ashley. I wish I could tell you that little Lana was born into a loving, safe home with two parents who loved her above all else. Sadly, that was not the case. Lana was born into a world of homelessness, mental illness, domestic violence and drug and alcohol abuse. There was no prenatal care during her pregnancy, and up until she was seven months old, Lana had never seen a pediatrician, never had immunizations and was given Tylenol to make her sleep. Her first seven months of life were spent listening to the screams and cries of her mother as her father beat her...the sounds of a crack pipe being lit... When Lana was seven months old, she and her mother were rescued by a SWAT Team from the father. At the time, it was discovered that the mother was four months pregnant with another child.

Lana is our granddaughter, her mother, Brenna was my daughter. Brenna was given her first diagnosis of mental illness as a toddler. By the time she turned eighteen, she had picked up many more. Raising her was a challenge, as it was a constant struggle simply protecting her from herself and the choices that she made. Shortly after graduating from high school and turning eighteen, Brenna made the decision to leave home. Contact with her was sporadic and we found out much later that she made the choice to quit taking the medications prescribed by her doctors. Instead, she chose to self medicate with illegal drugs and alcohol. After their rescue, we brought Brenna and Lana back to Houston and they thrived. Brenna did well until Alex was three months old and then she spiraled out of control. At this point, we knew we had no choice. I found myself in court fighting for emergency custody of both of the children. Lana was fifteen months old and Alex was four months old. (We went on to receive temporary and then permanent custody of both children. On July 27, 2009, Brenna died of a drug overdose at the age of twenty-seven. The father's parental rights were terminated by the courts.) Just as we were all settling into our new lives, we began to notice some things with Lana. Her walking was off...she seemed to stumble and fall. She also seemed too tired very easily and required much more sleep than we thought was normal for her age. At times, she seemed to have tremors. Back and forth we went to the doctor, only to be told that considering her prenatal and early history, there were bound to be some developmental issues, but she would outgrow them. We continued to question and were sent to a neurologist. Initially, Lana was diagnosed with cerebral palsy. Then, she got worse...the doctor then thought she might have Tuberous Sclerosis, until testing came up negative. Finally, after eight months of multiple tests and exams, the doctor told us he suspected that Lana had Ataxia Telangiectasia (A-T). We flew to Baltimore, Maryland to the A-T Clinical Center at Johns Hopkins Hospital where it was confirmed. We were devastated. A-T is a horrific disease that combines the very worst symptoms of cerebral palsy, muscular dystrophy, cystic fibrosis, an immune system deficiency and a 1,000 times greater chance of getting cancer than the average child. It is neurodegenerative and progressive. Children with the disease are usually wheelchair-dependent by the age of ten and rarely survive their teens. There is no cure or treatment. A-T is fatal. By the age of two, Lana began using her first wheelchair, mostly to preserve her energy. This was followed by a walker and then a gait trainer when she could no longer walk without falling. Age two also brought her first Dynavox communication device. 2010 brought the destruction of her cerebellum by A-T. Lana became wheelchair-dependent during the summer of 2011 at the age of eight. She was also fitted for AFO's and hand splints during this time. A couple of months later, her immune system failed, necessitating immunoglobin infusions weekly. The spring of 2012 brought three types of sleep apnea and a Bi-Pap machine, as well as a Vest Clearance System. The summer of 2012 brought surgery for a feeding tube. Today, Lana is nine years old and in the third grade. She is very active in Girl Scouting and loves life. In many ways, she is a typical little girl who loves anything purple, pink or sparkly. She adores horses and chocolate and shopping. Lana is a sassy, feisty little daredevil who loves scary rides and roller coasters. Her best friend and co-conspirator is her little brother Alex. Lana refuses to give up or give in. She lives her life on her terms and can often be found racing around in her power wheelchair. In March of 2012, Lana was crowned Little Miss Wheelchair Texas 2012 by the Ms. Wheelchair Texas Foundation. She has spent her reign traveling across Texas showing the world that she CAN. She also educates and advocates for the disABLED children of Texas.

A-T is a recessive genetic disorder that occurs when two carriers have a child. While the drugs and alcohol that Lana was exposed to during the prenatal period did not cause her A-T, her doctors feel certain that they exacerbated it.

Rare Disease Day 2013

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

Thanks so much to all who participated! Main Street Formals Acushnet Treasure Coast Tackle Online JB Photography Fairhaven Keith's Auto Body Fairhaven Top Shelf Bar and Grill New Bedford Munchkin Mania Acushnet Wicked Kickin' Cheesecake New Bedford Azaria Tanning and Spa Acushnet Backstage Dance Academy New Bedford Shakeology online at www.myshakeology.com/jennwheels Stephen & Company Dartmouth Soccer Post New Bedford Miss Z Photography New Bedford Mendonca's Florist New Bedford Bear-Ly Used Consignments Lakeville AlyChris New Bedford Lightworks Sound and Production III Suns New Bedford Dusty Roads Online Rochelle's Restaurant - Acushnet

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:
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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!