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Newborn Metabolic Screening Program

Mother and Son

Nathan's Story

Our son, Nathan, was born September 12, a healthy 8 pounds 10 ounces, with 10 fingers and 10 toes. Everything seemed fine until Nate reached one week of age. I had just been through this 13 months before with our older son, Matthew, but my maternal instincts were telling me that something was wrong. Nathan was lethargic, irritable when he was awake, and had a very distinctive caramel odor. He wasn't interested in nursing though I knew he had to be hungry. That morning our Pediatrician confirmed my suspicions. She informed me that the metabolic screening done when he was 2 days old came back abnormal. He was suspected of having Maple Syrup Urine Disease (MSUD).

Immediately I became hysterical. Although I am a nurse, I had no idea what she was talking about. 'Is he going to die?' was my first thought. I somehow managed to get him to our doctor's office and then to the PICU at Providence. I don't remember the drive, though I do remember thinking "how could this happen to me." I did everything right during pregnancy: I ate well, took vitamins, exercised, etc. Nate playing with his mom

Within an hour of our arrival at the PICU, Nathan was on a ventilator and had multiple IV lines. He wouldn't open his eyes. This simply wasn't the same baby we brought home the week before! My husband and I were both in a state of shock. No one on either side of our families had been through a situation like this. Would Nathan survive? Will he suffer physical or mental delays? Nobody had the answers to our questions. Only time would tell.

MSUD is a genetic condition in which the affected person lacks enzymes to break down 3 of the 20 amino acids that make up protein. Leucine, one of the amino acids, is neurotoxic, which explained his earlier behavior. Nate's initial leucine levels were so high that he had to be sent to Seattle Children's for hemodialysis. We spent a total of 2 weeks in Seattle and had good days and some bad days. There we received instruction on how to carefully mix his formula specific to MSUD.

Nate is now 7 months old and looks like a "normal" baby. His developmental milestones have been right on track. MSUD is a lot of work, though one does learn to deal with it day by day. Nate requires frequent trips to the lab to monitor his amino acid levels. Within 2 days I receive a phone call from the dieticians at the University of Washington on how to correctly mix his formula, which has to be very carefully weighed with a gram scale. We Nate and mom playinglook forward to less frequent trips to the lab as he begins to slow down his rate of growth.

Nathan will forever be on a low protein diet. Most of his needed proteins will come from his formula, which he will have to drink for the rest of his life. Nate will never be able to eat meat, poultry, fish, beans, nuts, and cheese or drink milk. He will not know what pizza, steak, or chicken nuggets taste like. Fortunately there are many recipes out there that make a low protein diet very palatable.

We are truly lucky that Nathan was diagnosed as early as he was. Other MSUD kids diagnosed even 2 days after Nate are not so lucky and usually have significant mental and physical delays. I cannot begin to tell you how blessed we are to live in a state that is so concerned about the well being of our babies. This simple test can make a significant difference in your child's life. It certainly has for Nathan.