WOLFRAM SYNDROME
by Joy Koenig, M.D., M.S.

Maureen* bends over to pick up a tennis ball at her feet, then bounces it once and swings an over-sized tennis racquet with her other hand. "Ping" the ball comes lofting over the net toward me and Katlin hollers from the back court, "Way to go, Maureen! Make her run for it!" I smile, and hit a clean hard return passed Maureen while shouting, "Look out Maureen, this one is for your smart aleck sister!"

Watching us, who would think that we were anything other than two typical teenagers and their mom, horsing around on a hot summer day? In truth, I only met Maureen and Katlin a few weeks ago. Katlin is a typical teenage; Maureen is legally blind and has both sugar and water diabetes. I met their dad after giving a talk at our local health club about the stress management and sports performance enhancement programs I offer for youth. When he discovered that I am new to California, without a family of my own, and just starting my new business, he offered me a deal. Come live with them on top of the Santa Cruz mountains, and in exchange help Maureen adjust to her medical condition - a genetic disorder called Wolfram syndrome.

Dad told me he didn't know a lot about Maureen's disorder, so being a good medical epidemiologist (a physician specializing in research), I hopped onto the computer and into MEDLINE, and learned a lot about Maureen's disorder. I stumbled across the Diabetes Insipidus Foundation, since DI is one of Maureen's primary diseases, and promised I would develop a website for people with Wolfram syndrome and would introduce you folks to this DI-related disorder.

Wolfram Syndrome is a rare and complex genetic disorder, sometimes referred to as DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness). It is classified as a progressive neurodegenerative disease. This means the disorder primarily affects the body's nervous system and that the nervous system gradually declines in its ability to work correctly. Over 170 people with Wolfram syndrome have been reported in the published medical literature.  By definition, all people with Wolfram syndrome have both optic atrophy (usually legal blindness) and juvenile-onset diabetes mellitus. A significant number (70-75%) also develop diabetes insipidus, and roughly two-thirds develop some degree of deafness, usually not severe. Complications of the urinary tract are present in about two-thirds, including incontinence and bed-wetting, and about 60% have neurological symptoms such as ataxia (unbalanced walking) and startle myoclonus (an increased reaction to strong stimuli such as loud noises). Over half of the people with Wolfram syndrome have episodes of severe depression, psychosis, or organic brain syndrome, as well as impulsive verbal and physical aggression, severe enough to require hospital admission in 25%. In addition, those who carry the gene but don't have the disorder (certain blood relatives) are at a 25-50 fold risk of developing serious psychiatric illnesses and have an increased risk of developing adult-onset diabetes. Often sexual development is delayed or incomplete. A considerable number of people (25%) have problems with their digestive systems, including recurring constipation or diarrhea. In a nutshell, a tough disorder to live with and successfully manage.

Wolfram syndrome is most commonly inherited in a pattern referred to as 'autosomal recessive'. Recently, the genes have been mapped to the short 'arm' of the fourth chromosome (4p16.1). The genes in this area might encode for the structural properties and function of mitochondria, a cell component found in most cells. In some cases inheritance is by maternal mitochondrial DNA.  People living with Wolfram syndrome have a wide-variety of special social, emotional and psychological needs. Quality of life is a strong issue.   Decisions that affect quality of life should be made asking the question, "When we get to the end of the road, what will have made my child feel that life was worth living?" Often, we inadvertently ask this question, " What will make me feel that my child's life was worth living?" 

Maureen and I focus on skills and attitudes that build self-worth. We choose activities that fit her - not her dad's - natural personality and values. Maureen is a Myers-Briggs ENFP. That means that she gets her energy from interacting rather than secluding - she loves doing things with people and for people, loves animals (we're currently trying to convince her dad that no house is a home without a cat!), and is learning to play the piano through the Suzuki Method (based on listening to tapes rather than on reading sheet music). When we made cookies for the Fourth of July picnic, we taught her how to stir the sugar-free cookie batter in a way that she'll know its mixed even if she can't see the batter well. Sending her to her room to play by herself is punishment - unlike her sister Katlin who would spend all day in her room reading and day-dreaming if her teenage metabolism didn't coax her out for lunch!

The bottom line is that some people, like Katlin, value objective approaches, as well as accomplishments and competency with inanimate objects such as winning games and sports, school projects, and building things. Others, like Maureen and I, value subjective approaches, as well as accomplishments and competency with animate objects - helping parents, friends and animals, being part of a team (win or lose) and developing healthy relationships.  Learn what your child values, and help reach those goals, and it's more likely that you will all end up believing life, no matter how short and challenging, is worthwhile.

For further information click on the title "Wolfram Syndrome."

*The names have been changed to protect the privacy of the individuals involved.