Introduction for Parents of Newly Diagnosed Children

Perhaps you have found this website because a loved one was recently diagnosed as having Alström Syndrome or perhaps you are a professional working with a person who has a new diagnosis.  We hope these pages will be a starting point for you to gain support, along with a better understanding of this complex genetic condition.

Keeping Things in Perspective

If you are the parent of a young child with Alström Syndrome, the diagnosis can seem overwhelming, filling you with uncertainty and dread for the future. You are embarking on a difficult journey, but one that is also rewarding. You will grieve when your child struggles, but you will revel in his or her accomplishments. You will encounter many difficult times, but also times that are joyful, humorous, and never boring. You may feel intensely isolated - most likely, none of your friends or family members has ever had to face the challenge of Alström Syndrome.  But remember that you are not alone. Many families have walked this road before you, and ASI is here to help.

For my part, I am writing just to introduce myself, perhaps to share some “wisdom” garnered over the years, and to let you know that ASI is here to help you in any way possible, should the need arise.

            The mission of Alström Syndrome International is "To provide support, information, and coordination world-wide to families and professionals in order to treat and cure Alström Syndrome."  We are composed of a talented and supportive Board of Directors; a superb Scientific Advisory Board – a dedicated collection of doctors and researchers from around the world, all of whom have worked directly with Alström patients; the A-Team, made up of our talented and accomplished adults; Family Services Coordinators, mostly Alström moms, who provide initial and ongoing contact information, support, and guidance through the often difficult maze of dealing with Alström Syndrome; and, most important of all, YOU!!

             You will find that everything about Alström Syndrome is challenging! We couldn’t have a small gene; we had to have a huge one. (Like me, you might not have known that they come in all sizes.) Not only do we have this great big gene, so far there are over 101 different disease causing mutations in the gene, so the actual mutations are really hard to find. On top of that, no two children, even brothers or sisters who have the exact same mutations, will develop all of the same symptoms, or, if they do, have the exact same experience with those symptoms. When you are told about the “variability” in Alström Syndrome, it will be hard to believe until you get to meet dozens of other parents and their children—all traveling the same road but making different stops along the way.

              And, of course, these days children are being diagnosed at a much earlier age. If you have a youngster, and you have just learned that she is going to go blind, that is devastating news. Or, if your first introduction to Alström Syndrome was a hospitalization because of heart problems, you will have many sleepless nights. What you won’t know at the beginning is that, more often than not, these problems will be managed and will not hold your child back from an astonishing array of accomplishments, as with any other child. There are members of our Alström family with multiple graduate degrees; there are many fine musicians; there are exceptional teachers, social workers, and volunteers. I look forward to the day when I can make these introductions or when you meet at one of the Conferences!

              Right now, you are probably being swamped with information, much of it hard to understand and all of it dismaying and frightening. I recommend taking “small bites.” Use only what you need to address the issues your child has, not the ones he or she might never develop. Remember, when it comes to information, ASI is trying to be “all things to all people.” That includes young and old, patient and parent, lay person and professional, medical doctor and research scientist. Use what you and your child need; leave the rest for later (or never).

            I and the rest of the team are here to help and are available 24 hours a day.  When it comes to Alström Syndrome, there truly are no stupid questions, so don’t spend a minute waiting to ask! You can reach me by e-mail at ASIRobin@hotmail.com or by phone at (207) 244-7043 (USA).  I will gladly serve as “broker” for questions outside my own realm of knowledge.

On behalf of everyone at Alström Syndrome International, welcome to the family!

Warmest regards,

Robin