Meet our girl Indigo Charlie Mays. After a smooth pregnancy and delivery, she was born on July 21st, 2013 in Seattle, WA. After spending just over 24 hours at the hospital, we headed home to start our life as a family of three. My husband Adrian and I couldn’t have been happier! She was so perfect!
Indie took to breastfeeding well, and for the first two weeks
of her life I fed her on demand. When she was two weeks
old we took her in for a routine well child check-up. She was
doing well, but our doctor mentioned that we would need
to have her second newborn screening (NBS) completed
which required the heel prick test. In Washington, I learned,
there are always two NBS tests performed: one at 24 hours
and one at two weeks. I remember asking my doctor if a
second test was overkill since the first one had come back
fine. She told us sometimes more mild cases are picked up
but that it was very unlikely. We agreed to do it and for the
next couple of days we didn’t think any more about it. Indie
was still doing so well.
Flash forward a few days and then we got a call -- the call
-- from our doctor asking odd questions about Indie and
how she was doing. Our doctor asked if Indie was feeding
okay, seeming lethargic, or otherwise seeming “off”. She
then let us know that she had tested “presumably positive”
for a very rare metabolic disorder called Maple Syrup Urine
Disease. She went on to give us a little more information
about the disease and some next steps, but kept it quite
brief. To be honest the rest of the conversation was a total
blur as we had no idea what to think and what this could
possibly mean for our perfect little girl. The next thing I
really remember was being told that our healthy, hungry,
happy infant would need some further testing and that
we needed to take her into Seattle Children’s hospital right
away. It was a Friday afternoon, so unfortunately we had to
wait until Monday to get the results. That weekend was one
of the hardest weekends, waiting, wondering, pondering
what this diagnosis could mean. How could it be possible?
What does this mean for her life?
Monday morning came and we got a call from the genetic
counselor. Indie did in fact have MSUD. Even though we
knew there was a chance she had it, it was still such a shock
because she was showing no signs of it. So, Indie was
officially diagnosed with a mild form of MSUD at 3 weeks
old. While her levels at diagnosis were not incredibly high,
they were outside the normal range for her age. Over
the next year, we regularly met with her new metabolic
team at the University of Washington and started her on a
combination of formula and breastmilk and she has thrived.
We were reassured that she will always be our perfect little
love, she’d just need some extra care.
Fast forward a few years and she is now a rambunctious 4
year-old, goes to preschool a few days a week, is starting her
first season of soccer, and enjoys playing dress up with her
little brother. Indie loves her formula, for which we are so
grateful. Her current protein allowance is around 12 grams
of protein a day. She’s a very healthy, happy girl. We have
been so lucky that although we have had a couple of visits
to the ER each year for hydration and to have her levels
checked (due to gastrointestinal illnesses), she has never
needed inpatient care.
We feel so incredibly blessed to live in a state where
there are two NBS tests performed. It’s the reason I’m so
passionate about NBS, because without it, our life would
look completely different.
Indigo Charlie Mays - Variant MSUD Age 4
- Written by Susan Mays
- Category: Volume 35-2