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).
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,
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.
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.
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 look
forward to less frequent trips to the lab as he begins to slow
down his rate of growth.
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
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.