Don’t miss it!
Pay Now: Early Bird Special! Register by January 31, 2019 and receive a 10% discount on registration costs!
Pay Now: Early Bird Special! Register by January 31, 2019 and receive a 10% discount on registration costs!
PLEASE NOTE: THIS CLINIC WILL BE FOR THOSE 17 AND UP. WE NEED TO HEAR FROM YOU BY FEBRUARY 25!
As many of you are probably aware, ASI has realized the long-held dream of establishing an Alstrom Syndrome Center of Excellence. In what we hope will be the first of several additional centers, we have been working with Clair Francomano, MD at the Greater Baltimore Medical Center. Clair, a longtime friend and valued colleague of Jan’s, now serves as Chair of the Scientific Advisory Board of ASI. To date, we have held Clinics for members of the A-Team, for pediatric patients, ages 1-11 and for adolescents, ages 12 – 17. These early efforts are 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 Centers where new patients of any age can go, be supported, and avoid being confronted with ignorance about the Syndrome. Caregivers and adult patients will receive written comprehensive notes, specific recommendations, and any test results generated.
Please be aware that the resources of both ASI and GBMC are limited. Sadly, at present we can only accommodate 8-10 patient participants per Clinic, and priority will be given to NEW participants. 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.
For this particular Clinic we are seeking adult or late adolescent patients, accompanied by 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.
The clinics/consultations will take place on Friday and Saturday, April 20 and 21, so participants and their care-givers will arrive during the day on Thursday, April 19 and depart in the morning on Sunday, April 22.
In addition to sleeping rooms, we’ll have dedicated meeting and recreational space.
We expect the following disciplines to be available: ENT, audiology, ophthalmology, genetics, gynecology, nephrology, cardiology, endocrinology, life coaching/psychology, and gastroenterology. 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 (or participant) will have your own examining room, and the various docs will come directly to you.
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 Marriott Towson and to/from GBMC. Spacious and nicely appointed suites with either one or two bedrooms 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” either Friday or Saturday evening depending on the availability of the professionals involved. Depending on insurance, in rare instances there may be a modest cost associated with a few tests. In previous clinics, no one has been charged more than $100 (USD).
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.
If you are interested, please contact Robin by email at email@example.com OR call him at (207) 244-7043. Due to travel plans, email is best. We need to hear from you by February 25, 2018.
Gina Denbow has done it again. While being a full time mother and teacher, she has managed to pull together one of the highlights of my summer: The 2nd Annual Angling for Alstrom bass tournament in Woodlands, ME!
As an avid fisherman and a volunteer for Alstrom Syndrome International, this is an exceptionally exciting event for me. It brings together so much of the community, offers so much for so many, and ends with a chow enough to make a king happy! All this while raising money to help ASI. What could be better?
This is the second tournament that Gina has planned, registered, and worked with Maine state tournament regulations to accomplish. So much more than a fishing tournament, the event offers a silent auction, face painting, a canoe challenge, scavenger hunt, fun with geocaching, and an incredible bake sale. It’s the kind of event summer was made for. And there’s more…
Kate’s Kids, headed up by Gina’s daughter and our friend Kate Denbow, insures that children will also have a chance to demonstrate their angling skills, with kids vying for trophies, medals, and the chance to be number one for the day! In addition, new this year, the Cardboard Boat Race!!!
Last year’s tourney was an amazing time, and everyone went home with a great sense of accomplishment from a day well spent. With proud sponsors such as the Boston Red Sox, Cabela’s, Old Town Canoe, and the hosts of the tournament, The Maine Blade Runners, this second tourney is sure to be a kick in the pants!
The tournament and festivities will take place on Grand Falls Flowage, Woodlands, ME. Contact information is available on the event flyer.
This is gonna be awesome!
By Lauren – Age 10
Do you want to go skiing? First you need skis, boots, and a helmet. If you can’t see or can’t hear, you need extra equipment. You might need an FM system or an extra helper, or a bamboo pole. Your guide helps you go down the slope to tell you turn or go straight or stop. I learned with Oregon Adaptive Sports. People with other special needs like leg problems or arm problems can use other equipment like special skis or poles.
At the beginning you have to learn to snowplow, and learn how to go straight with just a tiny bit of wedge. You start on a gentle slope, then you go on steeper and steeper and steeper until you go on black diamond slopes, which are the steepest. You practice turns, and learn to carve a sharp turn. You put a lot of weight on the leg you are turning on. You put your arms out front to help you balance. You can hold the bamboo pole, and you can have a teacher on each end of the pole with you in the middle, or you can have just one teacher holding on. One or two teachers are easy to ski with.
You use a lift to get up the mountain, and your teacher will tell you, “1,2,3,” and then you sit down. To get off the lift, the teacher tells you, “1,2,3,” and you grab on the pole or the teacher’s hand. Then you put your ski tips up, then you slide off the little snow ramp. You turn left or right to the slope you want to go to. Some slopes lead off to other slopes.
The most important thing is learning to stop. You stop by making a large snowplow, or you can turn and stop by putting a lot of pressure on one of your feet, and point your skis up hill.
I hope you love skiing as much as I do. I think it is fun because you can go really fast. It is not easy when you start, but you get used to it and you get better. You have to start slow and only go fast with control. I think that if you keep working hard you will get better and better. I know you will!
I would like to share a story about the success and determination of a child with Alstrom Syndrome in the hopes that not only that it may not only inspire but assist others whose lives have been affected by this disease. Aside from the physical manifestations of Alstrom’s and the severe medical complications that arise to varying degrees from one individual to the next, one of the most trying areas for us that should not even be, has been the continuous battle for free and appropriate education. I am sure there are many parents of children with Alstrom Syndrome that have been met with much resistance from their local school districts in regards to not only what services and academics they are to provide, but to what their children are capable of as well based upon their impairments. Many districts tend to view their provision of both education and services as a privilege, and not a right guaranteed to all.
Before I continue further, I would like to offer some background information as to our history with Alstrom Syndrome. Unknowingly, we have been dealing with the manifestations of Alstrom for close to twenty years, as our eldest son would have celebrated his 20th birthday this August. When I say unknowingly, it is because we did not get a confirmed diagnosis through genetics testing until approximately three years ago, as the gene was not found during the initial testing sequence, and was sent overseas for further testing. We have had seven children, five of which are afflicted with Alstrom, and two of those five whom were taken from us far too soon. Currently we have two in the high school level finishing up their their sophomore and junior year, and one that will be entering kindergarten in the upcoming school year. We have been embroiled in educational needs battles since the beginning years of our eldest son’s education. But that is another story that I hope to share in the future.
Our participation in the Alstrom community has been minimal, as I’ve opted to suffer in silence so to speak. But after many years of enduring the atrocities suffered not only by our children, but viewing those endured by other children with disabilities at the hands of the educational system as well, I have begun to see things differently as I feel that I may be able to help those experiencing educational issues. I plan to assemble a blog or website in the future in the hopes that it may be a valuable resource to the parents of a child with a visual impairment experiencing educational issues. A network in which we can discuss problems and solutions, the laws and rights of those containing an IEP, and the innovative ways we are implementing the use of real world technology as a means of not only accessibility, but the way that it has been utilized to improve functional ability. So this is my first step in doing this, and with giving you some knowledge as to our background with Alstrom, I will get back to the original story.
I would like to introduce my son Gabriel. Gabe has recently celebrated his 16th birthday. Fortunately for Gabe, aside from the obvious metabolic characteristic, blindness, and suffering from a moderate hearing loss, Gabe is currently not afflicted by the more life threatening symptoms that are currently experienced by his sister, Abigail, who is elder by one year. It’s been a rough road for Gabe both educationally and in other aspects. Gabe entered the school system as the first of our educational battles was coming to a head. He was swept along for the ride so to speak, as both his sister Abigail and brother Michelangelo were both in school before him. I accept the blame that things spiraled out of control to the degree that they had as I was lax, and assumed that the district had the best interest of my children in mind, as they were the educators. I couldn’t have been more wrong. The issue was simple. The district felt that, because the children had varying degrees of a visual impairment, they were compromised cognitively as well. After many battles and many underhanded tactics used against us, the district finally threw in the towel.
By the allure of cutting edge technology and services, we opted to send the children to a renowned private institution near our locale. Another poor choice, as the facility was not what it is portrayed to be. But as I said before that is another story. Gabe’s first three years there were wasted, as they did not have an appropriate placement for him as he was more advanced than his peers. Year after year we got the same story of how they restructured their program and unfortunately due to his age he fell in the lower portion. At that point, it again became a battle – a battle to get these children out and back to the home district. Gabe’s placement began to affect his demeanor as he began to become withdrawn. Socially he was stifled as they would not allow him to participate in any activities because of the possible Alstrom diagnosis; therefore he was a ticking time bomb. During this battle, Gabe became even more withdrawn as we suddenly lost our son Michaelangelo to this disease. He had lost his best and possibly only friend. After taking some time to assist in the healing process, it was back to the battle at hand.
Eventually, through litigation, we won out. It was back to the local high school for 9th grade. I was extremely concerned feeling that he would be a target so to speak in our local public school, but at the same time I knew that Gabe would have more opportunity here. And I think that by now the district realized that I would make sure that he would get it. But even so, Gabe would still be challenged to prove his merit. Upon entering high school, Gabe expressed the interest, and lobbied for himself to join the Army JROTC program. Both the senior army instructor and the army instructor were willing to give it a try. They stated that although they never faced a circumstance such as this within the program, that they would make it work. They also stated that they will expect the same of Gabe as they would of any cadet, and that he would be treated no differently. Gabe would not have wanted it any other way.
The program is run with a strict military mentality and regiment. The premise of the program is that through leadership and education training one will become a better citizen. It has four years of academics along with physical training, drill team, academic team, Raiders, community service and other various activities. Gabe seemed to have found his niche. He immediately joined the drill team. The drill team competes against other military academies and programs in both military drill and parade, both armed unarmed. His participation in the program was met with much skepticism. He was met with much negativity, but I advised him to remain focused and feed off of the negativity. Gabe remained persistent. He practiced religiously in drill formation. Although Gabe traveled to the competitions with the team, he still was not included in the competition. After a few competitions, even though I tried to keep his spirits up, I could see that being passed up based on his disability was wearing him down. He knew he could do the movements as he practiced.
I also had begun to take notice that if I was present at the competitions, they seemed to rely on me to guide Gabe as opposed to incorporating him into the team. I decided then it would be best if I backed off, and sent him to the next competition on his own. It was there, at a critical moment, he took matters into his own hands and entered himself in the armed knockout event at 2nd Brigade Drill competition, in Queens, New York. This competition determines who goes on to Nationals. Armed knockout is similar to a Simon says type of event. The army instructor calls the command, and the cadet must execute the movement perfectly with his body and his rifle. But the preparatory command must be correct in order to execute the movement. The cadet must be aware of the count of individuals that still remain in the event to determine if they are being addressed correctly before executing a movement. Was it platoon sized or squad sized? To this day, I still can’t figure out how he kept track of who was in the event at any given point in time. And these commands are given in rapid fire succession. Gabe placed third in the event, beating out his entire battalion including his battalion commander and took home a trophy. It was after this that some began to view him differently, that he was capable despite his impairment. Gabe has found many other ways to contribute to the program and has ascended through the ranks. He received the rising star award at the JROTC awards banquet at the end of his first year, and had been promoted to First Sargent.
This year Gabe participated in Drill Team, Color Guard, and the Raiders team, along with juggling the responsibilities of First Sargent. He also is attending a gym where he is receiving training in both wrestling and Brazilian Jiu Jitsu with the anticipation of going out for the wrestling team this upcoming school year. Most days start with going to school at 6am for practice in Raiders, staying after school for Drill Team practice, and then to the gym for his training, while maintaining his academics. He has juggled this very well, and has maintained second honors throughout the year in regular education classes, just falling short of first honors. As First Sargent, he assumed command of Charlie Company, and was responsible for their upkeep, along with the responsibility of the inventory in the supply room. He gave the other cadets no excuse, because it was felt that if Gabe can do it, then they are capable of it as well. This program has given him a renewed confidence in himself, and he has even begun to network socially. This year Gabe’s hard work paid off.
At the JROTC Awards banquet last week, Gabe received a national award from the Military Officers Association of America for demonstrating exceptional potential for military leadership as a member of the JROTC. The picture is of him being presented his certificate, ribbon and medal. It was also announced that he was being promoted to officer status as Captain, the fourth highest rank in the program. He still has two more years to go. It is amazing that all throughout life Gabe has had many doors closed in his face, based upon his disability. Even his start with this was met with much skepticism, and still is at times. But with finally being given an opportunity he has soared with it and surpassed what anyone could ever have imagined he was capable of. His persistence has paid off!
Fourteen families were represented at the SE Regional Family Reunion held December 2-4, 2011 at the Unicoi Lodge in Helen, Georgia, site of our International Conference in 2010. Although there was little formal structure, it is fair to say that a theme of “Things Have Changed” united the informal presentations that were made and a great many personal conversations held throughout the weekend.
Many of the A-Team are now considerably older than many of the younger parents. Several are older than some of the grandparents. In Alström Land, the wisdom of these adults is invaluable. At one point, Shannon Caldwell, eloquent as ever, stated, “I am not a blind person; I am a person who happens to be blind. This circumstance does not limit me; it only creates a different set of challenges, challenges that I have faced and overcome, just like those of you who can see would do.”
Earlier that same day, I talked about the astounding changes that have occurred in the past 20 years. I noted that the Syndrome existed for many centuries as a nameless, faceless, scourge before Carl Henry Alström finally described it in 1959, and his description was extremely limited, so much so that accurate diagnosis remained an issue. Today, many of you reading this post made a correct diagnosis by Googling the symptoms and wading through the huge body of material that now exists on-line. Once the gene was found in 2002, the hard work of figuring out what and how things go wrong when there are mutations in that gene could begin.
Jan showed amazing slides of work being conducted at Jackson Laboratory and spoke of world-wide collaborations, all aimed at further understanding and combating the syndrome. I am not sure what amazes me more – parents four centuries ago believing that they should not have conceived during the autumnal equinox or being able to look deep within a single cell and be able to say, “See that green color? That’s the Alström protein. We dyed it!” Indeed, things HAVE changed, and there IS hope.
The weekend showed that while we wait, the Alström Family will provide love and support, create opportunities to both cry and laugh together, and always encourage everyone to appreciate a day without a doctor’s appointment!
Robin Marshall, Executive Director
Alstrom Syndrome International
Mt. Desert, ME USA
This is a video shared by the Bosma family from Holland. They are the proud parents of a beautiful daughter Jette, 19 months old, who is affected with Alstrom Syndrome. The first six months of her life she was hospitalized because of her cardiomyopathy and nystagmus, and other serious problems. Jette has had a tough start to her life, but she is loved dearly and her family is hoping that things will continue to improve for precious little Jette.
This is a short film made by Michelle Hough, from the UK. It is set to Portia’s Song from Friends and Heroes and features her wonderful daughter Millie and her story from birth to now. Millie was in intensive care at 5 1/2 weeks with heart failure and the road since has been a very rocky one. Millie has Alstrom Syndrome, she is registered blind and will continue to battle many severe medical conditions. She has and continues to inspire and amaze, the Hough family does not know the future but they are not not wasting the present.
Here’s a link to a magnificent piece written on Alström Syndrome, ASI, and Katelyn Denbow and family, published to Canada’s Telegraph-Journal. An exceptional article, both touching and educational.
Here’s the amazing story of Kolby Zanier, an Alström Syndrome patient with an amazing new technology that stands to change the lives of people suffering from congenital heart complications. It’s great to be alive at a time when such technology is changing lives for the better, and stands to help so many more into the future!
Read the full story online at The Vancouver Sun.