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
