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.


As our legislators headed home for their August break, Rare Disease Legislative Advocates got busy.

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Metformin As A Possible Therapeutic Agent In The Treatment Of MSUD

The MSUD Family Support Group has provided funds to Buck Institute for its preliminary studies investigating metformin

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NBS-MSUD Connect: Advancing MSUD Research And More


Rare disease registries have received attention in recent years because of the many ways in which they can benefit the rare disease community.

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MSUD Awareness Day

Now more than ever before we are hearing about National Awareness Days which are set by organizations or the government to bring attention to issues of importance.

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In the 2016 survey of the membership of the MSUD Family Support Group, research for improved treatments and potential cure was rated “most important” by 90% of the responding members.

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Galen Carrington Classic MSUD age 27

Galen Carrington is a 27 year old Indiana resident who has classic MSUD. He underwent liver transplantation 5 years ago at Children’s Hospital

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A Child's Life

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