Dear Family,

I deliberately used the word “denizens” above because the most common definition is “inhabitant.” However, one also finds “one admitted to residence in a foreign country, “especially an alien admitted to rights of citizenship” and also “one that frequents a place.” All seem suitable for this post since we now have known patients in 72 different countries, but we are united across all differences by our unique relationship to and the necessity of living within the boundaries of Alström Land! Aliens in a strange land indeed!

As I have oftentimes written and as those who attended the last International Conference in Galveston in 2019 are aware, we have long been admirers of Alström UK (ASUK) – its dedicated personnel, its well-developed programs, and its enthusiastic clinicians and researchers. We have also been “jealous” of the relative ease with which they can access government funding, and, also, of the nationwide access that our Alström families there have to aid, support, and services. I like to tease the ASUK leadership that all things are much easier to accomplish when you all live on a small island (where people don’t even speak proper English).

When the ASI Board met in Galveston in May, 2019, we invited Ann Chivers, Chief Executive of ASUK and Alex Rayson-Griffiths, a Patient Trustee of their Executive Board, to visit with us and discuss the future. A number of other “world powers,” such as Canada, Italy, and Turkey, are already represented on the ASI Board with even more engaged on the Scientific Advisory Board. We envisaged a new entity which we dubbed “Alström Global,” and Ann Chivers and I, with some able lieutenants, agreed to meet via ZOOM on a regular basis. We have done so, and over the past 18 months we have evolved an ever-closer collaborative relationship. As a result, I wish to share the following, and I encourage you to do a deep dive into these links.

1. ASUK will host the first inaugural Alstrom Global Virtrual Conference on Friday and Saturday, December 4 and 5, 2020.  Please see: https://www.alstrom.org.uk/save-the-date/  See you then!
2. Although many of you participated in ASI’s Patient Registry (ARC), we now encourage you to join the Patient Registry being presented and maintained by ASUK. We really ALL benefit by having a united effort, and we certainly would all REALLY benefit if we could generate an EXPLOSION of data to be mined and exploited by our global community of clinicians and researchers! The late Jan Marshall (Mama Jan) laid the groundwork for this eventuality through her many years of gathering information and data from throughout the world by any means possible: extortion, torture, begging, blackmail, and enormous quantities of love and hugs! I ask you to honor her by resolving to complete your submission by Wednesday, November 11, 2020!!  https://www.alstrom.org.uk/patient-registry/
3. When you click on this last link, you will find a magnificent collaborative paper written by the best and brightest of our world-class clinicians, scientists, activist parents, and talented lay people. It represents a comprehensive update and extension of the Clinical Guidelines that many of you first received on that laminated card you received years ago in your ASI Welcome Packet or discovered in The Alstrom Syndrome Handbook or, perhaps, read on any number of rare disorder websites. These revised Guidelines are REALLY good, and this paper should be “required reading” for you and for each of your doctors!  https://www.alstrom.org.uk/research-papers/#Clinical-Guidelines

These are truly difficult times, so I’m glad to bring you some good news and to provide you with the opportunity to make some really solid contributions to the welfare of our Alstrom Family!

Be well! Be safe! Stay sane!
Robin

Giving Tuesday is here, and it’s a time we can all get behind ASI and help meet our fund-raising goals. Click on the image below to download to ASI today!

Thank you everyone for all that you do!

Dear Alström Family and Friends,

For many years ASI has been “sailing to windward” against the wind and often against the cultural tides that decreed that rare diseases were “orphan diseases” and somehow did not merit the same interest or support garnered by grander national and global health issues. Despite the “knock down” we all received from the death of “Mama” Jan Marshall in September 2016, life continues and winds shift, and ASI is now continuing Jan’s legacy and churning along under full sail once more!

Since I wrote a year ago, ASI, with your help, has not only continued to support its three core programs (Research, Education, and Family Support), but it has also been especially successful in finding favorable currents to exploit in its quest to treat and ultimately cure Alström Syndrome. ASI could not have reached the following marks without its able-bodied crew – those of you who have been on board for years and those of you who have just joined the team! The highlights are:

• Continuing to work with Genetic Alliance, other disease advocacy organizations, and the private sector to refine ASI’s on-line registry known as ARC, which stands for Alström Research Connect and Family Exchange, an opportunity to foster participant-centric research leading to interventions.
• Planning and executing the 9th Family Conference, Medical Clinic, and Scientific Symposium in May in Galveston, TX. Affected children and adults, their parents and siblings, physicians, researchers, and volunteers were all there. Medical experts shared the results of new research and new insights into the disease process; many children and parents met someone else “just like them” for the first time and shared both tears and laughter; and, importantly, all parents and adult patients had direct access throughout the weekend to caring professionals, all while helping to establish research priorities of concern to those actually living with the syndrome.
• Collaborating closely with Greater Baltimore Medical Center while finding the funding to maintain the Jan D. Marshall Center of Excellence for the Treatment of Alström Syndrome where we hold twice annual multidisciplinary clinics. Our first Alström patient has received his cochlear implants there!
• Expanding the Alström Syndrome Knowledge Hub (ASK), a freely available anonymized data base comprised of extensive medical records collected over several decades.
• Taking the first steps towards establishing both Alström Global and a Global Research Network, perhaps the key to winning this particular race and retiring the boat (and its captain!).

We know that with your aid we can bring these projects to fruition and improve the lives of those with Alström Syndrome; we know that with your support we can help to ease the pain of parents and siblings; we know that with your help our efforts may well contribute in a remarkable way to the health and welfare of people everywhere.  Please join us in a true sense of relevance and accomplishment. Please contribute today!

If you wish for more information about Alström Syndrome, please contact us. For ease of on-line donation, fill out this form. If you would prefer to send a check, mail it to ASI, 14 Whitney Farm Road, Mt. Desert, ME 04660, and you’ll receive a tax deductible acknowledgement. If you have questions or require additional information, please contact me by phone at (207) 244-7043 or by e-mail at robin.marshall@alstrom.org.

Thank you for caring! Thank you for making a difference! Thank you for your generosity! 

Sincerely,
Robert P. Marshall
Executive Director
Alström Syndrome International

PLEASE NOTE: THIS CLINIC WILL BE FOR THOSE 1 -17. Anyone is welcome! Information and consults will be in English. WE NEED TO HEAR FROM YOU BY December 15, 2019!

BACKGROUND: As many of you are probably aware, ASI realized the long-held dream of establishing an Alstrom Syndrome Center of Excellence, named for Jan D. Marshall in December 2018. Our early efforts were designed specifically to familiarize a team of specialists with the syndrome, its range and intensity of phenotypes, and to broaden the awareness of psycho-social issues which have been largely ignored. We also focused on the assessment and possibilities of cochlear implantation for our kids. Another important goal has been to acquire and maintain consistent longitudinal data and to ultimately have additional Centers where new patients of any age can go, be supported, and avoid being confronted with ignorance about the Syndrome. Caregivers and adult patients (when appropriate) will receive written comprehensive notes, specific recommendations, and any test results generated.

ONGOING CONSIDERATIONS: Please be aware that the resources of both ASI and GBMC are limited. Sadly, at present we can only accommodate 8 participants per Clinic, and priority is extended to NEW attendees. Anyone not selected for this clinic will still be eligible to attend future age appropriate opportunities based on medical history, specific medical issues, and the availability of specialty physicians, who donate their time and expertise. “Veterans” of previous clinics SHOULD let me know if interested.

WHO: For this particular Clinic we are seeking pediatric participants (aged 1-17) accompanied by a parent or parents or a close experienced relative such as a grandparent. We are not really set up to incorporate healthy siblings, but feel free to consult if you’re stuck.

WHEN: March 5 – 8, 2020. The clinics/consultations will take place on Friday and Saturday, March 6 and 7, so participants and any care-givers will arrive during the day on Thursday, March 5 and depart in the morning on Sunday, March 8.

WHERE: Sheraton Baltimore North Hotel and Greater Baltimore Medical Center GBMC), both in Towson, Maryland. In addition to sleeping rooms, we’ll have dedicated meeting and recreational space at the Sheraton.

WHAT: We expect the following disciplines to be available: Otolaryngology (ear, nose, throat), Audiology (hearing), Ophthalmology (vision), Genetics, Nephrology (kidney), Hepatology (liver), Cardiology (heart), Endocrinology, Behavioral Psychology, and Gastroenterology (gastrointestinal). Part of our time will include a thorough review of cochlear implantation and its possibilities for patients with AS. During the Saturday multi-disciplinary clinic, you will have your own examining room, and the various docs will come directly to you. Nice change for most!

COSTS: Parent/Caregivers/Patients are ONLY responsible for transportation to and from Baltimore. ASI will cover all other costs: transportation from the airport or train station both to/from the Sheraton and to/from GBMC. Rooms will be arranged. All meals (b/l/d) will be provided. Many will be a la carte from the restaurant menu to accommodate individual tastes. There will be a “banquet dinner” on Friday for all participants. Depending on insurance, in rare instances there may be a modest cost associated with a few tests. In all previous clinics, no one has been charged more than $100 (USD).

MUST DO: If you wish to attend, you will need to provide GBMC with comprehensive medical records well AHEAD OF TIME, and you will receive specific contact info about what is needed directly from GBMC.

WHAT NEXT?: If you are interested, please contact Robin by email at robin.marshall@alstrom.org OR call him at (207) 244-7043. Please – email is best (NOT facebook or messenger). We need to hear from you ASAP but no later than December 15 2019!!

To: Adult Patients (and their parents) with Alstrom Syndrome
From: Robin Marshall, Executive Director, Alstrom Syndrome International
Re: Upcoming Alstrom Syndrome Multidisciplinary Clinic at the Jan D. Marshall Center of Excellence for the Treatment of Alstrom Syndrome at Greater Baltimore Medical Center (GBMC).
Date: September 26 – 29, 2019

PLEASE NOTE: FOR THE FORESEEABLE FUTURE, THE FALL CLINIC WILL BE HELD THE LAST WEEKEND IN SEPTEMBER AND WILL BE FOR ADULTS (18+), WHILE THE MARCH CLINIC WILL BE HELD THE FIRST WEEKEND IN MARCH AND BE FOR PEDIATRIC PATIENTS (1 – 17). IN BOTH CASES ALL ARE WELCOME REGARDLESS OF NATIONALITY.

BACKGROUND: As many of you are probably aware, ASI realized the long-held dream of establishing an Alstrom Syndrome Center of Excellence at the Greater Baltimore Medical Center. Efforts for the first few years were designed specifically to familiarize a team of specialists with the Syndrome, its range and intensity of phenotypes, and to broaden the awareness of psycho-social issues which have been largely ignored. We have also focused on the assessment and possibilities of cochlear implantation for our kids. Another important goal has been to acquire and maintain consistent longitudinal data and to ultimately have multiple Centers geographically where new patients of any age can go and be supported early in the diagnostic process and then have an ongoing relationship.

ONGOING CONSIDERATIONS: Please be aware that the resources of both ASI and of GBMC are limited. Sadly, at present we can only accommodate 8 patient participants per Clinic, and first refusal is extended to NEW participants.

WHEN: September 26 – 29, 2019. The clinics/consultations will take place on Friday and Saturday, September 27 and 28, so children and their caregivers will arrive during the day on Thursday, September 26 and depart in the morning on Sunday, September 29.

WHO: For this particular Clinic we are seeking adult patients accompanied by a parent or a close experienced relative such as a grandparent. We are not really set up to incorporate younger siblings, but feel free to consult if you are really stuck.

WHERE: Sheraton Baltimore North (https://www.marriott.com/hotels/travel/bwins-sheraton-baltimore-north-hotel/) and Greater Baltimore Medical Center (https://www.gbmc.org/). In addition to sleeping rooms, we’ll have dedicated meeting and recreational space.

WHAT: We expect the following disciplines to be available: ENT, audiology, ophthalmology, genetics, gynecology, nephrology, cardiology, endocrinology, life coaching/psychology, and gastroenterology. Some topics may be addressed in a group setting and/or by a panel. Part of our time will include a thorough review of cochlear implantation and its possibilities for patients with AS. Basically, you/your child will have his/her own examining room, and the various docs will come directly to you.

COSTS: Parent/Caregivers/Patients are ONLY responsible for transportation to and from Baltimore. ASI will cover all other costs: transportation from the airport or train station both to/from the Sheraton North and to/from GBMC. Spacious and nicely appointed rooms with either one king or two queen beds will be arranged. All meals (b/l/d) will be provided. Most will be a la carte from the restaurant menu to accommodate individual tastes. There will be a banquet dinner on Friday to which all professionals will be invited. It is likely that the Pharmaceuticals with which ASI is working will be present. Depending on your insurance, in very rare instances, there may be a modest cost associated with a few tests. No one, and only a very few, has been charged more than $100 (USD).

MUST DO: If you wish to attend, you will need to provide GBMC with comprehensive medical records well AHEAD OF TIME and you will receive specific contact info about what is needed directly from GBMC.

WHAT NEXT?: If you are interested, immediately contact Robin at robin.marshall@alstrom.org OR call him at (207) 244-7043. Remember – new patients will receive preference but all are welcome to signify their interest and be considered if possible.

We would like to extend a invitation to all of our professional colleagues to review the 2019 conference information and request your input! Please visit the page below for details!

https://www.alstrom.org/a-call-to-our-professional-colleagues/