The day we received our daughter’s rare disease diagnosis profoundly changed our lives forever. I remember hearing the geneticist tell us that our daughter, Ellie, had a condition called mucolipidosis II. For a brief moment, I felt relieved. I naively thought that because her condition had a name, there must be some treatment for it. My relief quickly turned to despair as he continued to tell us that not only was there no treatment or cure, it was also terminal – likely in early childhood. We left the office in a fog, with new appointments for our daughter and a cursory suggestion that we might want to “talk to someone.”
As it rightfully should be, the focus after that first appointment was on getting my daughter connected to the doctors and therapists she needed. Other than my daughter’s pediatrician, no doctor ever asked how my husband and I were doing or provided us any mental health resources. Yet, we were coping with the news that not only would our daughter not grow up the way we were anticipating, but that she wouldn’t grow up at all; that our new normal included frequent appointments with upwards of 10 specialists and weekly therapy from four different therapists; and that we now lived with a constant fear that any illness could prove fatal to Ellie.