MSUD Family Support Group

Dear Friends and Family,

As some of you know, our daughter Lyla was born last December and subsequently diagnosed with Maple Syrup Urine Disease (MSUD).

MSUD is an extremely rare inherited metabolic disease that affects 1 in 185,000 births worldwide with only 30 or fewer babies born with this disease in the U.S. per year. Those diagnosed with this disease are missing a key enzyme to break down certain amino acids found in protein. Not just animal protein, but plant protein as well. Some adults are restricted to as little as 10-15 grams of natural protein a day (equivalent to just a couple of eggs), with the rest of their protein consumed via a genetically modified formula. If they consume too much natural protein, the amino acid build up could lead to all sorts of issues, from lethargy, vomiting, seizures and coma which can lead to lifelong neurological and developmental impairment. People with MSUD need to get frequent blood tests, and have extremely restrictive diets which can lead to severe social issues from anxiety, eating disorders, or obesity. Though proper management can help mitigate some of these issues, it is not something one grows out of, and is a lifelong condition.

Frannie and I both got genetic testing before our son was born 5 years ago. Frannie was a carrier for MSUD, and I was not. We recall looking up this funny sounding named disease, only to read about how difficult it would be to have this diagnosis. Fast forward to when Lyla was born, her newborn screen showed evidence of MSUD, which required additional labs and genetic testing for confirmation. It was then that we learned that I have a variant that had never been reported before, also known as a Variant of Unknown Significance, or VUS. Lyla is the unfortunate recipient of both my VUS and Frannie’s known pathogenic variant.

Lyla in the NICU after her initial diagnosis.

This past June, Frannie and I attended a bi-annual symposium in Virginia hosted by the MSUD Family Support Group, the leading non-profit for this disease. We wanted to learn more about the disease, and also see how we could help. What we learned rather quickly was that Lyla appears to have a somewhat milder version of this disease with a higher protein tolerance than many diagnosed with MSUD. That said, her higher protein tolerance is still just a small fraction of the daily protein intake for most people. We met several families who had traumatic experiences during early childhood, from frequent trips to hospitals, feeding tubes, and in some cases underwent liver transplants (which allows for more normal protein intake, but still carries many risks). We also came to realize how fortunate we are being just a short distance from one of the best metabolic genetic teams in the country at Mount Sinai Hospital in NYC. From our own experience and stories heard at the symposium, the right doctor and nutritionist can really make a world of difference.

In addition to the symposium, the MSUD Family Support Group raises awareness and funds for further scientific research. Given the disease was only discovered in 1954, there is still much to learn about how this disease will impact those diagnosed as they age. And like many rare diseases, there are difficulties raising funds given the lack of prevalence of MSUD. This adds to the challenges in finding not only a cure, but also ways to improve day-to-day management of those living with MSUD.

Lyla participating in a study at the Symposium.

It's not lost on us how lucky we are so far with respect to Lyla's condition. We have only had a few hospital stays, but not many. We have lab tests every month or so, where others have it every week. And we are fortunate to have a support network to help us manage Lyla's condition, where others may not. With this in mind, we want to bring a wider awareness to this rare genetic condition, and hope to not only help find a cure, but also help families living with this condition. Towards that goal, we are raising funds for MSUD research and the Family Support Group, and will be doing this by taking a special (and long) walk.

Last Fall, we moved to Westchester, NY, after spending years together in the City. Our past 5 years were spent in our apartment in Midtown East, and so, we will be walking on November 2nd from our new home to our old home – approximately 20 miles. We hope this walk will one day show Lyla that she has the whole world in front of her and will always have the love and support of her family behind her. Wherever life’s journey may take her, we will be there for her. Now and always.

We kindly ask you to donate to this cause via the link above. The funds will go directly to the MSUD Family Support Group, a charitable 501(c)(3) organization.

We thank you all from the bottom of our hearts for your generosity, and feel free to forward this to your friends and others who may be able to help support this cause. It takes a village, and we would like to extend a special thank you to our parents for their love and support this past year. You all have shown us the way, and we are forever grateful.

With love,

Aaron & Frannie

(and Big Brother Matthew and Lyla)