Building awareness of rare diseases is so important because 1 in 20 people will live with a rare disease at some point in their life. Despite this, there is no cure for the majority of rare diseases and many go undiagnosed. Rare Disease Day improves knowledge amongst the general public of rare diseases while encouraging researchers and decision makers to address the needs of those living with rare diseases.
JOIN THE MOVEMENT!
Raise Awareness for Rare Diseases
Celebrate the 350 Million People Worldwide Affected by Rare Diseases
Attend a Rare Disease Awareness or Fundraising Event
Recognize Rare Caregiver Heroes and Advocates by using the hashtag #RareHERO on social media
February 2018 issue of the ALGSA e-News
dedicated to and in memory of:
Mary Sancak
“Every heart breaks so it can let more light in” This was especially true for me last year. On January 31st, 2017, my sweet sister Mary collapsed and lost consciousness while at school. She was in a place she loved with her favorite teacher, Ms. Bynum. I think this was fate.
The next 3 days were hell-ish. Mary had suffered a ruptured aneurysm, was unable to recover, and passed away peacefully on February 3rd, 2017. I could not process what had happened to my sister, my only sister. Mary, whom I admired so deeply and looked up to more than anyone, my greatest inspiration, was gone.
Mary was a "Warrior". She fought her entire life to overcome ALGS and endured more than anyone her age should. Diagnosed at 2 months old, her ALGS came with pulmonary stenosis, developmental issues, Moya Moya, liver disease, and more. Her continued bad health did not allow for liver transplant evaluation. She was very itchy, extremely fatigued, and had a history of strokes that she was unable to recover from and lost all ability to use her left hand after the 2nd stroke. In 2015, Mary had a spinal hematoma and underwent a 10-hour surgery. Her "Warrior" battle continued.
Even in difficult moments, Mary won the hearts of all her nurses and caregivers. Strong will and courage helped her press on, never letting any of this get her down. Despite not having fully understood why she was different, smaller than her peers, or why she couldn't use her left hand, Mary lived life so fully. Her heart was gold. Her smile could light up a whole room.
After Mary passed, our family was overwhelmed by the kindnesses given. Mary’s celebration of life service brought friends from all stages of her journey. Pediatricians, physical therapists, school teachers, and even strangers who had met Mary at the grocery store all attended. Upon our request, all attendees wore brightly colored clothing to remember the joy Mary brought in life. Mary’s school started a scholarship fund in her honor, created bracelets that said “Be Merry for Mary” and installed a memorial bench in her honor.
With the help of the ALGSA, we were able to donate Mary’s liver to the Children’s Hospital of Philadelphia (CHOP) for ALGS research. Mary’s middle school started a scholarship fund in her honor and our family will award the first scholarship to a deserving high school senior graduating in 2021. Our hearts will always ache and long for Mary but it's touching to know that Mary’s legacy and memory will live on in these ways. I am so incredibly honored to be Mary’s sister and I will always cherish the sweet and special bond we shared together.
An excerpt from speech I gave at Mary’s celebration of life service:
“Mary’s legacy will abide within all of us, in the moments we choose courage in the face of obstacles, in the moments we choose joy regardless of our circumstances, in the moments we choose compassion over judgment. May we all live as freely as Mary, sharing smiles, laughter, and love in abundance. Having gratitude for every blessing. Creating happiness in every way possible. Having eyes that find beauty in the small places and the good in all people.”
Written by Sara Sancak, Mary's sister
Carousel of Possible Dreams
Every child, every individual should have the opportunity to achieve their dreams. The RARE Carousel of Possible Dreams campaign has given us a way to provide that opportunity. Through a dedicated platform for funding and with your help, we have able to raise almost $10,000 for critical ALGS research. Thank you to our teams, our donors, and all of the supporters who shared our emails and our social media posts! It is because of you a cure is within reach.
Over the next weeks and months we will be bringing you updates on the research being conducted by Dr. Duc Dong at Sanford Burnham Prebys. If you’re interested in participating in clinical trials associated with this or other ALGS research, please email us at alagille@alagille.org and write “clinical trials” in the subject line.
To learn more about Duc and his research, take a look at this great video:
If you had told me two years ago that I would spend almost a week touring a research facility, meeting doctors, researchers, and staff, giving tissue samples, and then be sad to leave I probably would have laughed. Surprisingly that is exactly what happened. The past five days have been full of some of the most empowering, inspiring, and overwhelming moments I have ever had. This was all thanks to the Alagille Syndrome Alliance, Sanford Research, CoRDS, Dr. Kamesh, and his research team.
At first meeting Dr. Kamesh was much like meeting any other researcher- he said a lot of things I didn’t understand, but somehow connected to Alagille Syndrome. I learned very quickly he
and his team are not like most researchers. He sat and talked with us about Alagille Syndrome, my particular case, and explained his research in ways that even someone with no science or math background could understand. His team did the same when we excitedly invaded their workspace during our tour of his lab. We barraged them with questions about their work, what it could mean for us, and how we could help. Their reaction was equally as enthusiastic and it was clear they loved sharing their work and the possible impact it could make in our lives. We were able to contribute to this research while there and it became a battle of “thank you’s”. We were thanking them for doing this work and they kept thanking us for giving them samples to work with. I can honestly say I’ve never seen people so excited about urine, blood, and tissue samples in my life! It was incredible!
The enthusiasm to execute research that could benefit us and improve our lives grew as we spoke more and more to them about our ALGS journeys. We shared our difficulties, triumphs, losses, and hopes. This was met with compassion and a growing determination to find answers. They shared their own difficulties and hopes for their research. We left with knowledge on how we can help each other improve the lives of ALGS warriors around the world. In my previous experiences, there has always been a clear gap between patients and researchers, but this weekend that gap began to close. This gives us hope to find ways to continue closing this gap with other research teams and share our stories.
“I think there is a lot of hope for patients with Alagille Syndrome…” Dr. Kamesh spoke these words during his presentation at the 8th Annual Rare Disease Symposium. I left Sioux Falls with a new perspective, new friends, and firmly believing that message.
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ALGSA LOGO AND COLORS
What do they mean and what are they?
The Alliance president, Cindy Hahn, explained so well in the Vol. 19, issue 2 of Links4Life newsletter, “The spiral pattern is everywhere in nature – the curl of a fern frond, inside a nautilus shell, the whirl of a fingerprint, a spiral galaxy. And it’s strength and creativity is mimicked in the human-made world – a spiral notebook binding, a slinky, the bit of a drill, a spiral staircase. The spiral of our new logo combines the natural and human-made to reflect our tagline “Building a better life with ALGS”.
Each aspect of our logo is created in order to symbolize a different aspect of living with ALGS. The colors and shape is not random, as it symbolizes the strength and importance of an ALGS warrior. It embodies a unified community, dedicated to helping one another in this difficult battle.
If you look at the white spaces in our logo, it looks like a maze or labyrinth – a path to travel – much like the journey of someone with ALGS. We then added the rainbow of colors that are captured in our jewelry – one color for each system that is affected by someone with ALGS. The colors meld into one another, unable to pinpoint where one system starts and another one ends. Finally, in the letterhead and newsletter masthead the ends of the path go off indefinitely, allowing our imagination and creativity to take us off the page into the future, while in the standalone logo the path connects encircling the logo and symbolizing our ALGS community.“
ALGSA colors:
YELLOW - for the liver and digestive system
RED - for the heart and circulatory system
GREEN - for the kidneys and renal system
BLUE - for the lungs and pulmonary system
PURPLE - for the brain and vascular system
CREAM PEARLS - for the skeletal system
Consider a donation to the ALGSA today.
Your gift goes toward 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.
One of the key challenges in rare disease care is the limited understanding of these conditions. Many rare diseases are genetic or congenital, and research into their causes and potential treatments is often underfunded. Patients and their families frequently face diagnostic odysseys, enduring years of uncertainty before receiving a proper diagnosis.
Come join other ALGS families at a fun and informative event. We have topics to fit every ALGS family from ALGS 101 to deep dives into the genetics of ALGS and current research on the disease.
