ALAGILLE SYNDROME ALLIANCE
Alagille Syndrome Alliance e-Newsletter
The Alaina Kaitlyn Hahn Celebratory Scholarship
is NOW open for applications for the Alaina Kaitlyn Hahn Celebratory Scholarship for the 2018-2019 academic year.
The Alaina Kaitlyn Hahn Celebratory Scholarship funds the education of high school graduates or GED credential recipients with ALGS who are entering or enrolled in an accredited US university, college or vocational school and choose to pursue higher education in the human biological, medical, or health sciences. This is a $500 scholarship for a single year and is renewable one time, subject to open competition with other applicants, for a total possible award of $1,000.
Application materials are available by request via email to firstname.lastname@example.org (include “AKH Scholarship” in the subject line). The application deadline is March 31, 2018 (11:59 pm in the recipient’s time zone when submitted by email; or postmarked by for mailed applications). Award notification will occur after May 1, 2018.
Wondering who the ALGSA team of board members and staff are?
Roberta Smith, President
I’ve been involved with the ALGSA since 2005, writing “Roberta’s Ramblings”, chronicling my life as a single mother with twins, one having ALGS. I also work in Nuclear Medicine. Coming onto the board in 2013 as the Director of Communications and Outreach, I connected with the personal, emotional, unspoken, and dark aspects of dealing with ALGS. I worked tirelessly to open the doors of communication about this within the ALGS community and to bring about more support and understanding to the world we live in. As President, I’m working to ensure a more sustainable foundation within the ALGSA and will continue to bring ALGS stories and programs to those who need them. Always looking to make a better life for those living with ALGS and for my family, the future of the ALGSA, and for those who’ve passed from this complex syndrome.
I am a father of 4 children (Isabella 9, Trae 7, Gabriel soon to be 5, and Max 2) with my wife Molly. Gabriel is our Alagille Warrior. We live in Canton, Ohio with a very close knit extended family, truly the reason we are able to survive an ALGS diagnosis. My wife and I are both educators. She teaches the gifted and STEM program for elementary and middle school kids. I have a non-traditional classroom as I have been coaching college soccer the the past 15 years. I am a graduate of Malone University with Bachelor’s degree in Business Administration and a MBA in Business Management. I also have a Master’s degree in Operations and Supply Chain Management with a concentration in Health Care Management. In addition, I have previous experience managing a midsized construction company fulfilling accounting, human resources, contract management and managing a staff of three.
20+ years of professional experience in the retail and fashion industries.
Former Board Member of Big Thought in Dallas, Texas.
Graduate of Miami University in Oxford, Ohio.
American citizen currently working and living in London.
Proud Uncle of an Alagille Warrior.
I have three kids ages 10, 7 and 3. Our youngest, Ben, has ALGS and is the reason I’ve chosen to serve on the board. I’m excited to further research and advance studies to lessen the effects and eventually find a cure. Ben was diagnosed at 1 month old and after he turned two was listed for liver transplant. Five months later he was blessed with a new liver. It has been about a year and a half since his transplant and our experience has brought me new insight to the needs of our Alagille Warriors. The desire to help and encourage others on the same journey is strong. Away from the board, I work as a financial planner, I coach basketball and football for my oldest son, road bike, run, and enjoy many adventures with the family.
Cher Bork-Development Manager
Born and raised in Memphis, Tennessee, Cher has grown up around a community that embraces giving back and the value of philanthropy to enrich people’s lives. Cher began fundraising for St. Jude Children’s Research Hospital in Memphis at an early age establishing a deep passion for those suffering from critical illness. With a long history in fundraising, nonprofit event management and development as well as nonprofit board service her path led her to Alagille Syndrome Alliance where she will help the ALGSA grow and prosper.
Tara Jaques, Director
Proud mother of an Alagille warrior, Chord, and 3 fur babies. Living in Ontario, Canada and are usually found singing, reading or laughing. Seeing the passionate work that the researchers continue to do for ALGS and hope for a bright future is what motivates me. The initial steps into the Alagille world were confusing until we found an informed and caring doctor. Chord has brought more joy and peace into my life than I could have ever dreamed and I would do anything to return those feelings to him- that is why being a Board member is so important to me.
Anna Laurent is a recent graduate from Murray State University with a Bachelor of Social Work degree. Born and raised on a family farm in Princeton, Kentucky, she has been advocating for rare diseases for many years. Anna co-founded a Facebook support group for teens and young adults with ALGS and became the first Junior Board Member of the Alagille Syndrome Alliance in 2015. Since then she has become a full Board Member and was the keynote speaker at the 7th International Symposium on Alagille Syndrome. Anna was also a speaker at the 8th Annual Sanford Burnham Prebys Rare Disease Day Symposium, which was the first scientific meeting on Alagille Syndrome. She has been an ALGS warrior for 22 years and plans to continue fighting alongside the ALGSA for years to come.
Shambhavi Ravishankar-Junior Director
Born and living with ALGS in India, I am committed to reaching out and bettering the lives of families like mine who struggle with the disease. Thriving by conquering ALGS varies from culture to culture and region to region. Therefore, I would especially love to work with ALGS families in developing nations, given their unique positions, to help them create their own normal. I’m a lawyer working in New Delhi on Policy & Legislative Research of health and disability law and environmental law. I hope to be able to contribute meaningfully to my ALGS family with my personal experiences and the professional skills I’ve acquired. An avid reader, lover of old English movies, reading, tea and of life in general.
My name is Kimberly Gray and I am a mother of 4, my youngest having Alagille Syndrome. We currently reside in northern Illinois and I work full time. Photography, writing and doing medical research are some of my favorite hobbies. As a new board member, I hope to find resources to share within the ALGS community that help our children and ourselves in positive ways.
My son Lucas was diagnosed with Alagille Syndrome when he was three months old, forever changing our lives. Lucas is my first born, so being a new mother and facing this disease was difficult, but I quickly learned that these ALGS babies are so special and strong! I became determined to take a stand with those who battle ALGS and vowed to do whatever it takes to fight this disease with them. Our journey has not been easy, as many others who face all the trials that come with Alagille Syndrome, but I am excited to join the Alagille Syndrome Alliance and help families in whatever way that I can.
Cindy Luxhoj-Founder and Executive Director
Cindy D Luxhoj is an energetic and driven mother of three young adults, and Executive Director and Founder of the Alagille Syndrome Alliance (ALGSA). When her first child, Alaina, was born in 1990 and diagnosed with Alagille Syndrome (ALGS) at three months of age, Cindy’s A-type personality led her on a quest for information about this rare genetic disease and, when Alaina was three years old, to founding the ALGSA. During her tenure as President and CEO, Cindy dedicated her every available volunteer hour to helping families cope with the daily challenges of this disease. While waiting for a liver transplant in January 2015, Alaina lost her 24-year battle with ALGS and now lives on in the memory of all the ALGS Warriors who loved and admired her. In January 2016, Cindy became Executive Director of the ALGSA and now has the distinct pleasure of being full-time staff for the organization she created and has nurtured for 25 years. When she is not working from her office in Oregon, Cindy is travelling throughout the United States building awareness, educating others about ALGS, and advocating for research and new treatments. She currently serves on the Rare Disease Advisory Panel (RDAP) for the Patient Centered Outcomes Research Institute (PCORI), as well as Co-Chairs the Patient Advocacy Group Committee of the Childhood Liver Disease Research Network (ChiLDReN). In her free time, Cindy enjoys painting and other artist pursuits, reading, socializing with friends and family, working out at the local gym, and hiking the beautiful Pacific Northwest. She looks forward to supporting her twin 22-year-old sons as they discover the joys and challenges of college and beyond and carrying on Alaina’s legacy in the ALGS community.
- Alagille Syndrome (ALGS) is an autosomal dominant, developmental disorder with a prevalence estimated at I in 30,000 births. Although ALGS is characterized by developmental defects of multiples organ systems, cardiovascular and hepatic pathologies (heart failure, aneurysm, and liver failure) are most life threatening.
- ALGS is associated with heterozygous mutations primarily in JAGGED1, and less frequently in NOTCH2. Because 60-70% of ALGS cases are due to de novo (spontaneous) mutations, this disease will continue to persist.
- Jagged/Notch signaling is required for the development of multiple tissues during embryogenesis. Binding of the membrane-bound Jagged ligand from one cell to the membrane-bound Notch receptor of an adjacent cell allows for direct cell-to-cell communication.
Shopping Amazon for after-holiday items?
Don't forget to shop SMILE.AMAZON and select the Alagille Syndrome Alliance as your charity of choice! A small portion of your purchase will come directly to the ALGSA to help build better programs, supply free materials to new families, and support our efforts to push scientists and pharma to take an interest in ALGS!
This issue of the Alagille Syndrome Alliance is dedicated to and in memory of:
Avery Carline Glenn
1/22/08 - 10/19/12
Avery Glenn was a feisty, headstrong girl who lived her brief life to the fullest. She was born with a severe case of jaundice, which was the first sign of her Alagille syndrome, though she was not diagnosed for over two more years. Her primary symptoms were severe itchiness, which caused to rock and bang her head into the couch constantly, and her small size, which originally led to a diagnosis of failure to thrive. Once Avery was diagnosed with Alagille syndrome, she responded extremely well to medicine that controlled her itchiness, so she grew to an above average height by age 4. Anyone who did not know how sick she was would have thought she was a perfectly healthy child. Unfortunately, at age 4 we learned that Avery had segments in a variety of her arteries that were far too narrow, which restricted blood flow, most notably hundreds of such arteries in her lungs. Avery passed away due to complications related to the ballooning of her arteries.
Avery made the most of her few years of life. Her main interests were dance, especially tap dance, soccer, and “reading” books. She also loved tussling with her two older brothers. She more than held her own even though they were more than twice her size. The greatest gift her brothers gave her was to treat her like a regular sister, not one who was ill. More than anything else, she hated being defined by her condition and wanted to be treated the same as everyone else. In the last year of her life, she went to doctor visits on a weekly basis, but always would peel off her band-aids from blood draws and stickers from doctor visits so no one would know she had a doctor’s visit. She was an amazing little girl who is missed dearly by so many people who loved her.
Add your photo to The Handprints Across America® Gallery and join the Rare Disease Day movement!
- Download and print the Handprints Across America flyer
- Take a photo of yourself holding the photo
- Share it on Instagram or Twitter using #HandprintsAcrossAmerica and include your story.
- Your story can include why Rare Disease Day is important to you, why you’re getting involved, and what rare disease you are impacted by.
- Your photo will be displayed in the stream below! Posts are updated every five minutes and pull from Twitter and Instagram if you use #HandprintsAcrossAmerica.
RARE Carousel of Possible Dreams
GRAB THE BRASS RING FOR ALGS RESEARCH
A rare carousel has a brass ring. The lucky rider able to grab it is even rarer. People born with Alagille Syndrome (ALGS) are rare, too, exceedingly so.
The Alagille Syndrome Alliance's (ALGSA's) dream is to be the lucky rider to Grab the Brass Ring for ALGS Research by raising $50,000 to improve life for rare ALGS Warriors around the world.
We'll use our RARE Carousel of Possible Dreams prize to fund one postdoctoral researcher conducting ALGS research, in one lab, every year, starting in 2018.
Together we can accelerate ALGS science to save lives now, not years in the future, one brass ring at a time.
AN ALGSA SUPPORT GROUP
ALAGILLE SYNDROME KIDS ROCK
Follow this LINK to the group
This is a support group for parents all over the world who have children with ALGS. This group is very active and full of willing parents looking to answer your questions and address your concerns. Come on in, make an introduction, make new friends, and learn more about ALGS as you find your way.
My name is Erika. I'm 27 years old and I live with my boyfriend in Fredericia, Denmark. I was born with a bad liver, a narrowing on my heart, hearing impairment, a high forehead, deep set eyes and a prominent chin. Daily, I am itchy over my whole body. My illness is not something I see as a problem as I've gotten used to it after so many years. I was diagnosed at 14 years old.
I received the disease from my mother, who unfortunately died in November 2015. I have 2 other siblings who also have it. My younger sister has many of the same problems as I have, but it has hit her harder. Nonetheless, two years ago my little sister had a child and she (my niece) does not have our illness. My older brother was born with the same symptoms as I was but has fewer effects today outside of his hearing impairment.
My Boyfriend and I have been together for several years and are planning to have children. Due to my Alagille Syndrome, we have had to make some extra considerations with how we would like to establish a family.
In our case, we are fortunate that in Denmark, they offer egg-sorting to people with chronic diseases as part of our health care. This means that doctors can take my eggs out, fertilize them and check if it has my illness. It's a lengthy process and can take up to 2 years before we have a child. Right now, we are on a waiting list that is 6-12 months long. All this wait, study and more will be worthwhile if I can have a child without Alagille Syndrome.
Lessons to Share
My Mother used to be the one to fight for my illness and me. Since she passed away, I have learned that I sometimes I know more about my illness than the skilled doctors I meet on my journey. This means that I often have share my knowledge about my illness with my doctors. It's not always easy and sometimes it's hard to fight the system but it can be necessary and it is worth it.
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to get your RARE Bear!
RARE Science, Inc: RARE Bears for kids and adults living with ALGS
RARE Science and ALGSA have joined forces to unite free RARE Bears with ALGS Warriors around the globe! Another gifting is underway with the goal of bringing awareness and hope to children and their families who face the challenges of living with Alagille Syndrome. The RARE Bear Program is a community driven initiative that is supported by the ever-growing RARE Bear Army of volunteers who help make one of a kind bears for special one of a kind kids. Gifted RARE Bears have a serial number that represents a child in the RARE Bear Program. The RARE Bear Program, created by RARE Science, involves patient community outreach and the creation of a registry and network of kids who suffer from rare disease worldwide. Data rich registries and networks create critical information banks that lead to the understanding of the common biology of a rare disease; thereby, enabling the identification of potential therapies that could help. The RARE Bear Program is always in need of quilters, stuffers, sewers and contributions to help fund the program and shipping costs of the bears to their new homes. If you are interested in being a part of the RARE Bear Army please reach out or apply for a bear using the link below. Together we can drive research forward for the rare disease community and change the lives of rare children! The goal is to get a RARE Bear into the arms of each and every ALGS Warrior!
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Consider a donation to the ALGSA today.
Your gift goes to fund programs, materials, and events that help educate families, healthcare providers, researchers, and scientists around the world. Together, we are working to FIGHT ALAGILLE SYNDROME and find a cure.
Stay tuned for the next issue of the new Alagille Syndrome Alliance
e-newsletter! Coming February 2018