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Ten years ago... a normal Thursday in Georgia. Jody & I were awaiting the birth of our son. We felt a bit experienced since our daughter Katelyn was born less than 18 months prior. Conner Glaze Godfrey came into this world beautifully. However, I remember having a continual feeling in my gut - something was “off” with my boy. We were discharged from Northside hospital in a suburb of Atlanta on Sunday. I made an appointment with our pediatrician the next morning, because Conner didn’t have much of an appetite and he slept constantly. The doctor dismissed my concerns saying “This is normal, babies can be lethargic at first.”

Conner had been given a newborn screening test at birth. The doctor did a follow up test and sent us home, telling us the results should be in by the end of the week. Our phone rang later that night around 6:30 PM. Mayo Clinic called stating that our son’s newborn screening came back with an abnormal reading for a rare disease, but that we didn’t need to worry, just follow up with our pediatrician in the AM. When my husband told me of the call, I asked him to call back and ask about the symptoms of the disease. Conner matched every symptom – highpitched cry, struggled to eat and hours upon hours of sleeping. Mayo Clinic immediately arranged for us to go to Egelston Children’s Hospital. Around 9:00PM we were headed to the hospital and the doctors were expecting us. They immediately stopped feeding Conner and they started IV fluids just to be safe in case that he did have a metabolic disorder. At 5 days old, treatment with formula had started. We met with geneticists and dietitian, Dr. Rani Singh. We were told about MSUD. Our world was turned upside down. The next few days are a blur… learning to make formula, learning about the risk of illness and metabolic crisis… it was overwhelming. I was grateful for my husband, who has strong faith and an awesome sense of humor… he gave Conner the nickname pancake because he smelled just like Aunt Jemima Syrup and we wanted to eat pancakes when we held him!

Dr. Rani Singh has been Conner’s dietitian since that time and she has been an indescribable gift to our family. She advised us to be homebound the first year of his life in order to avoid illness. We followed the protocol. The Godfrey family is very social so this was extremely hard, but we made it work. We found a new normal. As a mom, I struggled those first years with fear of Conner’s future. I still have days where I struggle with the thoughts of the unknown future, yet for the most part – our new normal is good.

Conner was hospitalized for the first time due to metabolic crisis around 18 months of age. Then hospitalized around the age of 3 when he had his first seizure. This was the scariest moment of my life.

After experiencing 5 seizures, we decided to put him on seizure medicine for two years. We then weaned him off the meds. It has been 5 years since his last seizure and I pray it was his last. We have had other hospitalizations due to illnesses, but all have been quickly treated and his metabolic levels stabilized.

Conner’s personality is passionate. He enjoys life, mostly sports and being with friends and family. His dream is to play football, however, his doctors advise against it. He plays basketball, baseball and lacrosse. He has some great friends. His close friends know about MSUD since they see him drinking “Conner’s Juice” and know that he cannot eat everything they eat. But most of the kids around him don’t even know about it. We have a supportive administration, school nurse and teachers in his school who know about MSUD and the signs to look for. They all know to call me the moment he shows signs of lethargy or dehydration. Classmates are often envious of his lunch, which includes goldfish, sugar-coated strawberries, Little Debbie’s and Fruit Snacks. Conner doesn’t allow the disease to define him. He believes that it makes him “unique” and “special”.

Conner has asked over the years to meet some people in the MSUD community. We were able to attend a symposium years ago when Conner was a baby. We hope to attend the next one in 2016. Conner is hoping to make some connections and meet some friends, so if you see us, please introduce yourself! We are grateful that Facebook helps our MSUD community connect.

Conner is currently in the middle of the Buphenyl trial with Dr. Brendan Lee. We look forward to seeing how his body responds to this medicine.

Although I hate that my son has to deal with this nasty disease, Conner’s passion and bravery has taught us to treasure each day and live life boldly.



Melvin Carruth

This letter is a tribute to my brother Melvin Carruth! We believe he is one of the oldest living African Americans with Maple Syrup Urine Disease.

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Transform

A Child's Life

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