My Perspective: Debbie Dovel

The Wishing Well

Wishing Well from Class of 2008

If you’re like me, you probably grew up being told that if you made a wish and threw a penny in a wishing well, it might just come true. I didn’t come across too many wishing wells on the back roads where I grew up, but I know all about making wishes. When you think about it, a wish is pretty much a prayer, because who is it you are asking to answer your wish but God? As far as I’m concerned, He’s the only one out there listening, whether you’re throwing pennies in wells or wishing on the first star in the sky at night. Whether it’s a small wish you had as a child for a kitten or a puppy, or the big ones as an adult asking for a loved ones’s safety in a war far away or healing for someone close to you with a life-threatening disease, a wish is a prayer your heart makes to the One who holds the future in his hands. We’ve all experienced the thrill of having a wish granted, a prayer answered the way we hoped, and we’ve all had the bottom fall out of our worlds when it went the other way. To me, seeing a wishing well reminds me that we still have a chance to make another wish and believe in a better future for our children and grandchildren.

We recently received the gift of a very special Wishing Well from our son’s classmates, the Hamburg High School Class of 2008. As many of you know, Chad passed away last year on Feb. 9, 2014 at the age of 24. He left behind many lives that he touched in a positive way by his perseverance and bravery in his lifelong fight with Juvenile Batten Disease. We created a memory garden in his honor in our back yard last spring and have been adding things to it that remind us of all the things Chad loved. There are stone memorial plaques and statues of angels and dragons we received from family and friends, even a statue of a boy on a tractor from his sister. One of our biggest items just added this spring from his Aunt Marie is a NASCAR concrete bench painted in the black and and white checkered flag design with the green and red Mountain Dew car on it, driven by #88, Dale Earnhardt, Jr., Chad’s favorite driver. The latest addition is the Wishing Well that Chad’s class had given to the school when they graduated where it’s been displayed in the solarium between the old high school and the junior high buildings. A couple months ago, some of his classmates, knowing that the building was closing at the end of June decided they wanted to honor Chad’s memory by giving it to us for his garden. Teri Emberton, who was their class sponsor and Jacob Jones, the class president and also Chad’s cousin, went before the school board and obtained permission to remove it from the school grounds and present it to us. After doing some weatherproofing and re-staining it, we planted flowers in it and put it in the garden. The class had even put a small brass plaque on it engraved with these words “In Loving Memory of Chad Dovel”. The previous larger plaque is still there which proclaims “Presented by the Class of 2008″. What a wonderful way to honor the memory of our son and their classmate! We are deeply touched by their actions, and every time I see it sitting proudly there in Chad’s Memory Garden amongst all his favorite things, I think about how much he loved his classmates and Hamburg High School. Those were some of the best days of his life before the disease took so much away. He loved all his teachers and aides, especially Donna Fichter, his “partner”, as she called herself for so many of his years in school. He loved to stop in the kitchen and talk to the cooks; Kathy, Helen, & Lois, especially Kathy, cause she loved NASCAR, too, and they could talk about their favorite drivers and the latest race. His favorite class was Chorus, because singing was something he loved to do, outside of talking, probably because he could sing clearly for long after his speech became affected by Batten. He was so proud to be part of the Wildcats Wrestling team his freshman year, and his Wildcat letterman’s jacket was his most prized possession throughout high school. He lived for Friday night home football games, where he’d stand along the sidelines with his dad, yelling “Go, Blue!” as loud as he could.

When I look out my bedroom window each morning towards Chad’s Garden, and I see the Wishing Well, all those memories run thru my mind, and sometimes if the light’s just right, I’ll see the shadow of young man in a blue and white jacket sitting on the bench and throwing pennies into the wishing well.

PEER Registry Recognized at White House Champions for Change Celebration

WhiteHouse copyBeyond Batten Disease Foundation is participating in Genetic Alliance’s Platform for Engaging Everyone Responsibly (PEER) registry initiative. PEER was honored at the White House’s Champions for Change for being a precision medicine leader. Read the press release below. 

Washington, DC (July 8, 2015) — The award-winning Platform for Engaging Everyone Responsibly registry (PEER), developed by Genetic Alliance and Private Access, was showcased along with four other precision medicine tools at today’s White House Champions for Change Celebration. The event honored nine precision medicine leaders and highlighted advances in the field.

The White House invited five innovative projects to describe their commitment to precision medicine. As one of the five, Genetic Alliance president and CEO, Sharon Terry, announced that the registry has newly added the capability for individuals to directly upload data from their Electronic Health Record (EHR) systems into PEER. She added that the group plans to begin deploying this in both existing and slated PEER Community releases over the next few weeks. Speaking about the new functionality, Terry said: “We have a long history of commitment to the vision of precision medicine and to providing people a way to be engaged in research safely and securely. The ability to upload clinical data directly into PEER Community portals adds a critical feature that will advance this work.”

PEER differs from traditional registry systems in that it lets participants dynamically control: a) how much information they wish to share, b) with whom they elect to share it, and c) for what purpose. These tools have set PEER apart by putting granular and dynamic information control in the hands of patients, participants, and their authorized representatives. In her remarks, Ms. Terry explained that these controls extend to all clinical information entered, including EHR data. “It is fundamental to the PEER vision that each participant be able to decide who can access their information, and for what purpose,” she stated. “We believe this is foundational to engagement and trust.”

Cerner Corp. and the National Association for Trusted Exchange (NATE) assisted in adding PEER’s new clinical data acceptance capabilities – PEER can now accept coded, clinical, Direct-compliant data. Consistent with Meaningful Use, participants can securely send this information directly to PEER from their patient (PHR) portals, or can instruct their providers to transmit this information on their behalf. PEER’s systems will automatically route data into each individual’s record, where it will be governed by the individual’s personal privacy preferences.

PEER will be interoperable with other programs announced at the Champions for Change event, including the Data Independence Movement and Sage Bionetworks’ project with Apple Research Kit

My Perspective: Jaclynn, sister of Mandi

My name is Jaclynn. I’m 20 years old in a family of four children living in New Brunswick, Canada. I have two older sisters: Jessica (24) and Amanda (22) and a twin brother Jeremy.

My sister Amanda (Mandi) was a very vibrant and involved child. She kind of “led” the group of us kids in our activities–always suggesting new and fun ways to play games and holding on to important things like Christmas traditions, etc. Having such a strong faith and being such a positive, innocent and happy spirit, she brightened everyone’s life. She was a dancer, she played piano, she sang, she did quilting and horseback riding and diving… the list goes on. Her diagnosis at age 7 of  Retinitis Pigmentosa (RP) was just another part of our journey through life. Adjusting to her vision loss was a challenge for the entire family, but that just became our “new normal”. Mandi’s most involved years happened after her diagnosis. Along with her many activities, Mandi began to learn how to read and write braille, how to walk with a cane for the visually impaired, etc. She started wearing very thick glasses to help her see, and we started helping her around more at night. By the age of 12, she was completely blind. Everything seemed normal otherwise until she went to high school. That’s when we first noticed that she was regressing cognitively. She started forgetting things she had already learned and was taking at least twice the amount of time to learn new concepts. Although she wasn’t as bright as she used to be, she was still able to graduate high school with honors and walked across the stage in her cap and gown with her cane to received her diploma.

madi
We all sort of knew something wasn’t right at this point though. Mandi had been slowly losing more and more independence and we didn’t know why. She was getting mixed up more often and getting lost in the house, which was unlike her. Still, she had high hopes to go to university. Mom and Dad sat down with her one night and discussed options of what she could do the year following her graduation and it was decided that she would go live in Boston at a school for the blind to hopefully increase her independence and help her grow as an individual. This would also allow her to meet others like her. She completed her program there but her instructors noted that she had some issues losing her way and getting confused easily. Needless to say, all of this continued to build and after many many doctors appointments and tests, she was diagnosed with Neuronal Ceroid Lipofucinosis (NCL), Batten Disease, in the spring of 2013 when she was 20 years old. Following her diagnosis, each of us was tested. Two of the siblings are “unaffected carriers” of the gene and one does not have the gene at all.

We all knew something was wrong, but did not realize to what extent. I don’t think we fully realized even after her diagnosis, until the Christmas before last (Christmas 2013) when she really started to go downhill. At that time, she started to lose more and more ability to speak and she stopped eating. By January, she underwent day surgery to have a feeding tube inserted in her belly so we could feed her. By last summer (2014), she became total care, incontinent, unable to transfer on her own, and eventually wheelchair and bedridden. She’s still living now and we just take it day by day. My parents decided they wanted to keep her living at home, so we did some renovations to the house to make it more wheelchair accessible, etc. My parents also have relief care that comes in and allows my mother and father to still work and tend to other needs of the family. Mandi hasn’t really spoken much in a long time. She will, however, still mouth the words to familiar Gospel hymns or Disney songs that she so loved as a child. It’s been a journey, that’s for sure, but Mandi’s never failing faith and strength through it all is what has kept our whole family going. In all ways, she has been a blessing to our family. Her late diagnosis was hard to accept, but I wouldn’t trade one of those 18-19 years of having a “normal life” with my sister. I miss her smile and her beautiful personality every day!