I recently added the MSUD page to the disorders list and felt compelled to continue adding a story showing family life with these disorders. I found this article, My Child Has Maple Syrup Urine Disease.: Gage’s Story. Although not a lot of detail is given in presentation and day to day treatment, one of the most impacting aspects was the comparison of another person affected and the differences in their outcomes. Rarely is it seen first hand, as a parent, the effectiveness of early diagnosis and treatment. As much as it breaks my heart to hear of the misfortune by this writer’s family member with the same disorder, it will be a constant reminder of just how vigilant one must be in the care of these disorders. The reference to the other child not getting the care necessary begs the question, was the information conveyed to these parents?
Continuing with the Family Life series, I came across a story about PKU. In Raising Baby Caroline: Life With PKU, by Michelle Forman, we see life from the perspective of the parents of a child diagnosed with PKU. Although a harsh pill to swallow at first, newborn screening certainly played an important role, as acknowledged by the parents. It is also important to note the close relationship between the family and the various providers, from Pediatrician to Dietitian, in providing maximum potential for both mental and physical growth. My only question is, as noted in the story, why are state laws so lax on requiring insurance to provide necessary supplies for the continued well being of these individuals?
RGMDO is on Facebook and Twitter @rgmdofam