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This account is reprinted from the newsletter of the Association for Neuro-Metabolic Disorders (Vol. 17, No. 3, Dec. 1997). The newsletter is affiliated with the Pediatric Neurology Metabolic Clinic at the Michigan Medical Center of which Dr. Richard Allen is the director and Cindy Parker and Anna Marie Schaefer are nutritionists.

My husband, Lance, and I have always been voracious readers, especially before we had a baby to occupy our time. One of our favorite authors is the mystery writer Patricia Cornwell. In her book, Postmortem, one of the characters has a very distinctive trait. His body odor has a sweet smell, like maple syrup. The author goes into great detail describing a condition called Maple Syrup Urine Disease. We thought that this showed great creativity, to "make up" such a strange disease. Little did we know what an impact this "figment of Ms. Cornwell's imagination" would have on our lives.

On July 17, 1997, I gave birth to our first child, a daughter we named Anna Augusta. While still in labor, I read the brochure on newborn screening. I was surprised to see MSUD on the list of diseases. I remember showing it to my husband and saying, "Look, this is actually a real disease!" We would soon find out just how real.

One week later we received the call from the pediatrician's office telling us that one of her newborn screening tests had come back abnormal. By this time Anna was exhibiting what I now know are the usual symptoms - irritability, high-pitched cry, refusing to nurse and arching her back. Also, looking back, her urine did have a syrupy, sweet smell. Of course, as a first time parent, I thought that everything about a baby was supposed to smell good, including her dirty diapers! The next day we were sent to the University of Michigan Medical Center, where we met Dr. Allen, and our long journey with MSUD began.

Though Anna's first three weeks were rocky, it has been almost smooth sailing since. She is now a happy four month old who smiles frequently and loves to be cuddled. Dr. Allen, Cindy and Anna Marie have been wonderful, along with our local pediatrician, Dr. Debra Simms. Although there are many ups and downs ahead, we feel up to the challenge. It still amazes me, however, that a work of fiction could become such a fact of life for us.

UPDATE: Anna continues to do really well at nine months and weighs 15 lbs. 10 oz.

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The MSUD Family Support Group is currently funding several research projects and we are proactively looking for researchers interested in developing new treatments or finding a cure for MSUD. Significant funding is necessary if we are to accomplish this goal.
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