News & Updates

From Robin Marshall to All ASI Families

Dear Friends,

Damlaya damlaya göl olur.

Damlaya damlaya göl olur.

Thanks for the avalanche of mail and messages. I’m not so good at talking/speaking yet, so I’m writing. This morning my son-in law, Richie, and/or I lost it over the coffee maker, which Jan always sets up, and avocados, which Jan always makes into her special guac. Lily (now 7), our younger granddaughter, is under Jan’s morning blanket-throw in Jan’s brown work chair next to Jan’s computer pretending Jan’s there to cuddle. I’m doing OK on the really big stuff; this little stuff is just killing me and our kids, which all just points back at the number one reality of losing someone so loved. Susie, Jan’s sister, and Paul arrive later today. Sure they’ll be the same way. My friends here on our Island in Maine have been just wonderful. They kind of just dart in and dart out with ready eat food or stop by and do a little weeding and deadheading, or load the dishwasher or, or, or. I suspect someone around is scheduling things. We have always been so very lucky in and with our friends. ALL of you in so very many special ways. Even the doctor’s, mine and Jan’s, and their staffs are checking up on me. Too bad I’m into Scotch, not drugs, because I could surely get just about anything that’s legal. I’m reminded to “let the tears flow.” Certainly no problem there. I’ve found a few breaks when I rush in to “tend to business.” Plans for the A-Team Retreat and for the GBMC Clinic, next week and the week after, are on-track, and though I know it’s completely unnecessary, thanks to those who were so excited but still are coming to either event for holding the course. Way to go! It will be hard at times, but we honor Jan, and, indeed ourselves, in fulfilling these two long held dreams of hers.

IrisI’m copying a FB contribution from a stranger (to me), Elena, to Marina, an Alström Mom in Italy, because it holds several truths. “When a knowledgeable person dies, a whole library disappears”. In this case, it is overwhelmingly true. Not just JDM’s knowledge but where it came from and how it could work together to help her “kiddos.” But, Elena continues, she will have left seeds and sprouts behind. Gayle Collin, who “discovered” ALMS1, spent time with me yesterday morning. She’s a great hugger!  Better yet, Jan planted her years ago and she has grown into a solid oak. We talked about Jan’s “legacy,” things at JAX, things here in the house, Jan’s peculiar cataloguing scheme, and Jan’s password strategy since Jackson Lab demands very frequent changes, etc. etc. Had my first decent laugh with her before catapulting to the other extreme. We’ve always counted on Gayle’s being onboard if something this bad ever actually happened. For her, Jan was totally part mom, part sister, part friend and, for Jan, way beyond her closest colleague and partner in Alström crime. Guess what? Part daughter, part sister, part friend. So, the African proverb Elena quotes is so true that it terrifies me, but her subsequent observations about Jan leaving behind “seeds and sprout” holds an even more awesome truth that lifts me up. Many of you reading this message MUST take heed. PLEASE take root! If you’re already a sprout, keep growing! This is more than about research –  it also means advocacy of all things good; it means fundraising for those less fortunate; it means jumping in and reaching out to new families; it means filling out those surveys that some of you are still procrastinating about; it means planning and executing those regional small Alström meetings that you talk about but need to hold; it means that though it literally might take all of you to equal what Jan did singlehandedly all these many years, that we can finish the only job she ever wanted for herself! Treating and curing Alström Syndrome!

Jan, Kate, and RobinTo the extent that I can bring ALL OF YOU any of the solace and love you have been giving to me and our family, I give you my pledge that I will keep the torch burning bright, even if I stumble a bit and it dips a little, when I know your hands will reach out and prop me up.

Gosh, you just have no idea how much she loved you all, “warts and all” as they say!

Love,
Robin

 

A Tragic Message from the ASI Team

All,

The evening of September 6th, Jan Marshall, the Chair, Scientific Advisory Board and Board Member of Alström Syndrome International passed away quickly to unforeseen health issues.

Jan was truly the heart of ASI, and her loss will be very challenging to overcome. She was our mentor, “Mama”, the point of solace, advice, and support for thousands of people whose lives have been affected by Alström Syndrome.

While we at ASI stand before this challenge and look to the future, we can hear the voice of our champion with her one expression when our organization would face challenge…

Onward!

Jan and Robin Marshall

Jan and Robin Marshall

Call for Photos!

Call for photos! 

If you have photos from the recent conference in Plymouth, MA, now you can share them! Follow the link and instructions below to send your photos to ASI for inclusion in the photo library!

Send Photos to ASI for Uploading

To send your photos to ASI for inclusion in the library, simply go to the link below for an easy to use web for that will allow you to send your photos to us. We will upload the images to Photobucket for you.

Send your photos to ASI: https://www.alstrom.org/2016-asi-conference/photo-upload-form/ 

 

Alström Syndrome International Represented at Precision Medicine Summit

Washington, DC (February 25, 2016) – Alström Syndrome International, a member of the Community Engaged Network for All (CENA), is represented at the Precision Medicine Initiative Summit being hosted by President Obama today! Amidst several other ‘health data flow’ announcements, Sharon Terry, CENA Principal Investigator, will announce that the Patient Powered Research Networks (PPRN) of the National Patient-Centered Clinical Research Network (PCORnet) will prioritize patient access to electronic health record data in order to let it flow into research studies. CENA, of which Alström Syndrome International is a founding member, is a Patient-Powered Research Network, and, as such, is changing the culture of medical research by involving participants, their families, and all stakeholders in all phases of research. Alström Syndrome International is thrilled to be involved in helping people more readily obtain their health information in order to advance research.

CENA is novel in that it is a collaborative effort of 10 disease advocacy organizations, the University of California, San Francisco, the University of California, Davis and Private Access. CENA utilizes the Platform for Engaging Everyone Responsibly (PEER) built by Private Access and Genetic Alliance to enable individuals to share their health information according to their personal data access and privacy preferences. In the case of Alström Syndrome International, this resulted in the creation of ARC (Alström Research Connect and family exchange), an amazing opportunity for patients and families to both contribute to and participate in Alström-specific disease research. https://www.alstrom.org/alstrom-registry/

To create a more robust network, all the PPRNs have pledged to help participants access their health data and to make it available for research. This greatly enhances the quality, sensitivity, and power of the available research data. “I am delighted to see these data flow! The goal for CENA is to empower people to ask for their health data from healthcare providers and receive it in the easiest and most useful way,” said Sharon Terry, who also serves as CEO of PXE International, a fellow rare-disease advocacy group. Terry is also a member of the Precision Medicine Initiative Cohort Program Advisory Panel.

“Patient health data, combined with information from self-reported data and other sources, will be critical in understanding health outcomes for millions of Americans,” Terry added.

###

About Alström Syndrome International
Alström Syndrome International (ASI) was founded in 1995 to promote research and support of individuals affected by Alström Syndrome. ASI works on behalf of individuals and their families to improve quality of life through advancing research, educating clinicians and supporting individuals. ASI is the prime force in conducting basic and clinical research and providing financial support for applied translational research, product development, and treatment development for Alström Syndrome. It also serves as the steward for the intellectual property to equitably advance products and services around the world for the individuals and families living with Alström Syndrome. Visit: http://www.alstrom.org

About CENA
CENA is part of PCORnet, the National Patient-Centered Clinical Research Network, an innovative initiative of the Patient-Centered Outcomes Research Institute (PCORI). Genetic Alliance leads this project, which is a collaborative of ten disease advocacy organizations, the University of California San Francisco, the University of California Davis, and Private Access. For more information about CENA please visit:http://www.geneticalliance.org/programs/biotrust/cena

About Platform for Engaging Everyone Responsibly
Platform for Engaging Everyone Responsibly (PEER) is the world’s first participant-controlled, cross-condition health registry. From the ground up, PEER is based on the principle that genuinely engaging individuals in medical research demands giving individuals (or their legally authorized representatives) the power to decide for themselves how, and with whom, they wish to share their health information. For more information:http://peerplatform.org/

Conference Agenda and Schedules now Online!

We have added some new files and pages so that you have early access to all of the activities and the full conference schedule. We also have included links to the websites for all of our activities at this year’s conference.

The schedules are available as both HTML or PDF, so you can print them, or use your mobile device through the conference to access them at any time.

Take some time and review them all!

Alström Syndrome International Represented at Precision Medicine Summit with President Obama

PRESS RELEASE  2-25-16

ALSTRÖM SYNDROME INTERNATIONAL
14 Whitney Farm Road
Mount Desert, ME  04660
Voice: 207.244.7043 • Fax: 207.244.7678
E-mail: info@alstrom.orghttp://www.alstrom.org

Alström Syndrome International
Represented at Precision Medicine Summit with
President Obama

Washington, DC (February 25, 2016) – Alström Syndrome International, a member of the Community Engaged Network for All (CENA), is represented at the Precision Medicine Initiative Summit being hosted by President Obama today!  Amidst several other ‘health data flow’ announcements, Sharon Terry, CENA Principal Investigator, will announce that the Patient Powered Research Networks (PPRN) of the National Patient-Centered Clinical Research Network (PCORnet) will prioritize patient access to electronic health record data in order to let it flow into research studies. CENA, of which Alström Syndrome International is a founding member, is a Patient-Powered Research Network, and, as such, is changing the culture of medical research by involving participants, their families, and all stakeholders in all phases of research. Alström Syndrome International is thrilled to be involved in helping people more readily obtain their health information in order to advance research.

CENA is novel in that it is a collaborative effort of 10 disease advocacy organizations, the University of California, San Francisco, the University of California, Davis and Private Access. CENA utilizes the Platform for Engaging Everyone Responsibly (PEER) built by Private Access and Genetic Alliance to enable individuals to share their health information according to their personal data access and privacy preferences. In the case of Alström Syndrome International, this resulted in the creation of ARC (Alström Research Connect and family exchange), an amazing opportunity for patients and families to both contribute to and participate in Alström-specific disease research.  https://www.alstrom.org/alstrom-registry/

 

To create a more robust network, all the PPRNs have pledged to help participants access their health data and to make it available for research. This greatly enhances the quality, sensitivity, and power of the available research data. “I am delighted to see these data flow! The goal for CENA is to empower people to ask for their health data from healthcare providers and receive it in the easiest and most useful way,” said Sharon Terry, who also serves as CEO of PXE International, a fellow rare-disease advocacy group. Terry is also a member of the Precision Medicine Initiative Cohort Program Advisory Panel.

“Patient health data, combined with information from self-reported data and other sources, will be critical in understanding health outcomes for millions of Americans,” Terry added.

###

About Alström Syndrome International

Alström Syndrome International (ASI) was founded in 1995 to promote research and support of individuals affected by Alström Syndrome.  ASI works on behalf of individuals and their families to improve quality of life through advancing research, educating clinicians and supporting individuals. ASI is the prime force in conducting basic and clinical research and providing financial support for applied translational research, product development, and treatment development for Alström Syndrome. It also serves as the steward for the intellectual property to equitably advance products and services around the world for the individuals and families living with Alström Syndrome.  Visit: http://www.alstrom.org

About CENA

CENA is part of PCORnet, the National Patient-Centered Clinical Research Network, an innovative initiative of the Patient-Centered Outcomes Research Institute (PCORI). Genetic Alliance leads this project, which is a collaborative of ten disease advocacy organizations, the University of California San Francisco, the University of California Davis, and Private Access. For more information about CENA please visit: http://www.geneticalliance.org/programs/biotrust/cena

About Platform for Engaging Everyone Responsibly

Platform for Engaging Everyone Responsibly (PEER) is the world’s first participant-controlled, cross-condition health registry. From the ground up, PEER is based on the principle that genuinely engaging individuals in medical research demands giving individuals (or their legally authorized representatives) the power to decide for themselves how, and with whom, they wish to share their health information. For more information: http://peerplatform.org/

 

 

ASI’s INTERNATIONAL SILENT AUCTION

For those of you coming to the ASI Conference in May, and also for those who can not come.. YES, WE WILL HAVE OUR TRADITIONAL INTERNATIONAL SILENT AUCTION!

If you would like to contribute, please bring (or send) an item for the auction from your country or state. It is particularly fun to see and bid on things from all over the world – all while helping ASI.

SILENT AUCTION

NEW FIRSTS FOR ASI IN BALTIMORE!

The first Alstrom Syndrome Multidisciplinary Clinic was held this weekend at Greater Baltimore Medical Center, in Baltimore Maryland. Organized by Dr. Clair Francomano Director of the Harvey Institute of Medical Genetics, the Clinic “kick off” included five adults with Alstrom Syndrome and seven physicians. Now that our first clinic has been a great success, we hope to hold future clinics for young adults and pediatric patients, and ultimately establish an Alstrom Syndrome Center of Excellence!
Concurrently, during the weekend, we held the first meeting of the Stakeholder Steering Committee (SSC) as part of our recent PCORI Award. The SSC consists of 3 adults with Alstrom Syndrome, 3 parents, 3 physicians, and 3 researchers. The purpose of this inaugural meeting was to consider plans for the full engagement of the entire Alstrom Community at the international conference in May in Plymouth Mass. to develop stakeholder-centered priorities for research. brit-alex Callie-Alex DD-callie katie-cassie parents rod-alex-jdm shannon three amigos