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?
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Amazing, 50 years of newborn screening. The first test was developed by Robert Guthrie in 1963 to detect phenylketonuria (PKU). There have been many advances since then, but there are still many more to go. Here’s to another 50 years and countless more lives saved.
Another story in the Family Life series, this one on a sister condition of MMA called PA or Propionic Acidemia. We know this family and their story in many ways mirrors ours. You can find it here, Family Stories: Kristin B.
Growing up I had my share of bumps, bruises, cuts, and scrapes, and maybe a bit more stitches than others, but I never once feared that there was a chance I would be ignored because of “MONEY”. Continue reading
As mentioned in a previous post, our pet of 15 years has passed. I feel that it is important to take the feelings of children into high consideration during this time. Continue reading
Are pets part of the family? We say yes and we are not alone. In this article, Are Americans crazy for treating our pets like kids?, by Sharon Peters for USA Today, Pets are overwhelmingly regarded as members of the family. On Sunday, 2/17/13, our cat of 15 yrs passed. Today our family mourns the loss.
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