Join Us to Celebrate Rare Disease Day 2018 in Sioux Falls
The ALGSA Board of Directors and staff will be in Sioux Falls, South Dakota, USA, for three events at the end of February 2018.
First, we’ll attend the 8th Annual Sanford Rare Disease Symposium on February 23. Hosted by Sanford Research and the Coordination of Rare Diseases at Sanford (CoRDS), the Symposium raises public awareness of the importance of rare disease research, as well as provides information to scientists and healthcare providers.
Next up is the Great Plains Rare Disease Summit on February 24, which will bring together people living with rare disease and their caregivers to connect with others, attend speaker panels, and visit with local organizations and vendors that support the rare disease community.
Last, but not least, the ALGSA Board of Directors will discuss ALGS research with Kamesh Surendran, PhD, tour the Surendran Lab, and hold our annual face-to-face meeting on February 25 and 26. We also are planning a dinner the evening of February 23 with Sanford Research staff and families coming to Sioux Falls to celebrate rare disease.
We invite you to join us for the Symposium and Summit, meet Dr. Surendran and possibly participate in his research, learn about Sanford Research and CoRDS, and meet the ALGSA Board of Directors, as well as share dinner and lively conversation. Registration for the Symposium and Summit is FREE at this portal: https://sanforddigital.wufoo.com/forms/sanford-rare-disease-event-registration/. Please let us know if you plan to come by sending us an email at alagille@alagille.org so we are able to follow up with you with more details. We hope to see you there!
This issue of the Alagille Syndrome Alliance is dedicated to and in memory of:
Cassidy Jo Baker
4/12/17 - 4/25/17
ALGSA on The Road
September 27 & 28 found Executive Director Cindy Luxhoj at a fundraiser for the ALGSA in Woodinville, WA, USA. Julia Bird, whose son Luke is a small but mighty ALGS Warrior, and Cassie Cabuag, Tasting Room Manager at Market Vineyards, were the idea people behind this fun event. Glassybaby, makers of hand-blown glass votives and drinkers, literally lit up the party with hundreds of beautiful pieces for sale and donated 10% of sale proceeds to the ALGSA. We custom printed calendars featuring Luke and postcards telling ALGS Warrior stories, and played videos showcasing ALGS Warriors from around the globe. The weather was beautiful and everyone involved had a wonderful time tasting, shopping, and chatting about ALGS and our great organization.
Want to learn more about ALGS from an ALGS teenager?
CHECK OUT "ALGS Experience, Teen Panel Q&A"
A live webcast from the 2016 Symposium on Alagille Syndrome.
VISIT THE ALAGILLE SYNDROME ALLIANCE YOUTUBE CHANNEL FOR MORE VIDEOS LIKE THIS!
by Deanna Power, Director of Outreach, Disability Benefits Help
If you have been diagnosed with Alagille Syndrome and are unable to work, financial assistance may be available for you. Adults who have worked throughout life but are now unable to maintain employment due to complications from Alagille Syndrome may be eligible for Social Security disability benefits from the Social Security Administration (SSA). Here’s a little more information on how you might be able to qualify:
Medical Qualifications
The SSA needs thorough medical evidence proving your Alagille complications are severe enough to prevent you from earning a “gainful income,” which is $1,170 per month in 2017. The SSA maintains a medical guide known as the Blue Book containing all qualifying conditions and exactly what test results you’ll need to qualify. Here are just a handful of conditions that someone with Alagille Syndrome might be able to meet.
Chronic Liver Disease
This listing is immensely complex and was written for medical professionals. There are many ways to qualify with liver disease. For example, if you experience hemorrhaging that requires hospitalization and at least 2 units of blood transfusions, you will medically qualify for at least one year. End-stage liver disease will always qualify, so you’ll be approved if you are waiting for a liver transplant.
Joint Dysfunction
If your Alagille Syndrome makes it difficult to walk, you might be eligible for Social Security disability benefits. You should be approved if you can meet any one of the following criteria:
· You cannot stand from a seated position
· You cannot balance while standing without crutches or a walker
· You cannot walk without assistance of two crutches, a walker, or a wheelchair.
Heart Disease
Many forms of heart disease can qualify. Chronic heart failure qualifies if your heart functioning does not meet minimum output criteria and if you’re severely limited in your ability to perform physical activities. Heart arrhythmias will qualify if they cause you to faint, or nearly faint, despite your prescribed treatments.
Everyone with Alagille Syndrome has radically different symptoms and complications, so there is no definitive way to know if you’ll medically qualify. Fortunately, the entire Blue Book is available online. You can review the Blue Book with your primary care physician to determine where you might be able to qualify and whether or not you meet the SSA’s medical criteria for approval.
Starting The Application
The fastest way to apply is online—You can do so from the comfort of your own home. If you’d prefer, you could also apply at your local SSA office. To make an appointment to apply in person, call the SSA toll-free at 1-800-772-1213. Most claims will be approved within three to five months.
RARE Carousel of Possible Dreams
The ALGSA, along with 30+ other members of the RARE Foundation Alliance, is teaming up with Global Genes and the Festival of Children Foundation to participate in the RARE Carousel of Possible Dreams fundraising event throughout the month of February 2018. Our dream is called Grab the Brass Ring for ALGS Research and our goal is to raise $50,000. We describe our dream like this:
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. Our dream is to be the lucky rider to Grab the Brass Ring for ALGS Research and improve life for rare ALGS Warriors around the world. We’ll use our prize to fund one postdoctoral researcher, 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.
In 2018, any money raised by the ALGSA through the RARE Carousel of Possible Dreams will go to the lab of Duc Dong, PhD, at Sanford Burnham Prebys Medical Discovery Institute in La Jolla, California, USA. Duc is such a champion for ALGS, we think it’s right that his lab should be the first to benefit from our efforts.
We’re rallying the forces and, after January 1, 2018, will be asking members of our community to sign up with a team and help in the effort. We are suggesting an individual team goal of at least $1,000 and are looking for a sponsor to offer a matching challenge of $15,000-20,000 as an incentive. Watch for more details and fundraising suggestions in the next issue!
Do you get the Alagille Syndrome Alliance quarterly newsletter mailed right to your front door?
At this time, our ALGSA materials and newsletters are not translated, but each month we will translate the "ALGSA Around The World" portion of the e-news as we focus on one ALGS support group in our global community. We hope this will help us transition slowly into a more diverse organization that everyone can enjoy, despite language barriers. Everyone should feel welcomed into the ALGS community, regardless of which support groups they prefer or what languages they speak.
Bringing these groups to your inbox will allow you the opportunity to connect with other families living with ALGS ANYWHERE in the WORLD. All of these support groups are filled with people who understand your journey. Enjoy!
Questo gruppo nasce dalla voglia di trovare famiglie che ogni giorno lottano per vivere felicemente trovando un equilibrio tra la normalità e la sindrome. Un gruppo per confrontarsi, consigliarsi e supportarsi. Esistono già molti altri gruppi a riguardo su FB ma nessuno creato per far conoscere e rapportare le famiglie italiane. Spero che in molti troveranno qui un buon canale per parlare della sindrome di Alagille e di come sia affrontare tutto quello che racchiude sia fisicamente che emotivamente.
****
Hello.
This group is born from the desire to find families that struggle every day to live happily finding a balance between normal and the syndrome. A group to discuss, advise and support each other. There are already many other groups about it on FB but none created to make known and report Italian families. I hope that many will find here a good channel to talk about the Alagille syndrome and how to deal with all that it contains both physically and emotionally.
Kristjan Huldar
Meet Kristjan!
Story of Kristjan Huldar
by mom, Auður Birgisdóttir, Akureyri, Iceland
Kristjan was going to be born 1 March 2010 but he came 18th February. He was blue and didn't breath at all and it took doctors 20 minutes to get him to breathe, then he screamed. He was very little and cute.
Kristjan's color was very yellow and he was lazy to drink and always crying. We spent one week at the hospital. He was my first born. His father was at sea and I was alone but I got help from my mom. The next year was very difficult because he cried 24/7 and didn't want to drink or sleep. I got 15 minutes of sleep for a day in the first year. I went to ER many times but didn't get any help. They said I was...mothersic... meaning it was in my imagination and I'm crazy.
Kristjan didn't laugh, smile, crawl or any thing and I knew something was wrong. When he was 18 months he got in kindergarten and they called me 1-3 times a week in the first month. There he was blue in face and had a difficult time breathing. One day they called me and he had very bad day and I got him to ER and I told the doctors that I didn't want to take him home until they did something for him. We were in the children's hospital and the doctor came to look at his heart in monitor and they discovered 2 heart failures. Patent ductus arteriosus (got closed at age 5), pulmonary stenosis (still has), and asthma. We were there 10 days at hospital and he got better after he got Ventolin and Flixotide. He was very difficult child and always alone and I thought something might be more wrong.
At age 3 he got very sick and we almost lost him.. He got the flu and streptococcus in his heart, mycroplasma, and dehydrated from that. We were in ER for 4 days and the children's hospital for 10 days and when we got home he had to be inside for 5 weeks. We didn't get any help at home and his father stayed at sea. Just me and Kristjan. When he was 4 years old in 2014 and after summer vacation I told them in his kindergarten that he has very difficult behavior and they told the same and 4 years of waiting and testing and we finally got in May 2017. He got analyzed and they found he had ADHD, Autism, bad talk understanding, stare epilepsy and Alagille Syndrome. He always had yellow skin, very itchy, and now his liver enzymes are getting higher and higher every month. Now in every year he and I have to go in for an MRI of liver and kidney 1 to twice a year.
Kristjan is 7 years old and will be 8 years February 18th. He has had 6 years surgery and finally at this year he has better hearing and can understand what we are saying. Last year we met neurologist and he put him on Conzerta and finally he can sit still for more than a minute and make eye contact. That is heaven for us. His itch is very bad and gets worse every week. The whites of his eyes are yellow.
I got Alagille Syndrome also but I don't have any symptoms of it other than a heart problem and high blood pressure and myxedema.
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Looking to make a last minute gift to the ALGSA?
It's hard to believe 2017 is already gone. It's been an amazing year for the ALGSA and we're proud of all we've accomplished. YOUR contributions have helped us achieve so many goals. We awarded our first-ever academic scholarship to a deserving ALGS Warrior. We hired our very first accountant. We invested in our organization more than ever before by retiring our dinosaur fundraising program and choosing a more modern and user-friendly platform that will continue to ease giving processes for years to come. We increased our online engagement, created new support groups, sent out more materials than any previous year, and reached inboxes with our new ALGSA e-news. We were able to thank our donors more often, increase our team engagement with the ALGSA Fight for A Better Life campaign, and take the ALGSA on The Road to events and meetings. NONE of this would have been possible without contributions from YOU, our supporters. We try each year to increase the value we offer our ALGS families. We want to bring every ALGS Warrior battling this disease the opportunities they so deserve. We want to increase scientific interest in ALGS, help fund important ALGS research and studies, connect patients with opportunities, and increase our outreach! We have a lot in store for 2018 and we can't wait to share it with you!
"Mobilizing resources, facilitating connections, promoting unity, and advocating for a cure to inspire, empower, and enrich the lives of people affected by Alagille Syndrome."
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.
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!
Rachel Herschmann, an ALGS Warrior and new ALGSA volunteer is painting dream catchers for ALGS Warriors. Being a warrior herself, Rachel is spreading hope and encouragement through customized pieces. "I started creating these dream catcher paintings to offer to any ALGS patient that wanted one. I am post-liver transplant and I thought my state of health could help other families in a tough situation feel encouraged. Each family is able to pick 3 of their child’s favorite colors and whether or not they would like a message from me written on the back. My goal is to offer support to as many people as I can". An act of kindness from an extraordinary ALGS Warrior.
If interested in receiving a customized dream catcher painting from Rachel, please email her at Rachel.herschmann@gmail.com
Stay tuned for the next issue of the new Alagille Syndrome Alliance
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.
