Five years after a difficult first pregnancy, my daughter became pregnant with her second child. This pregnancy came as a surprise to me as she knew the risks associated with pregnancy.

For the first 4 months, she went to the local OB/GYN office and was then referred to Yale Maternal Fetal Medicine in New Haven, CT where they manage high-risk pregnancies. As with her first pregnancy, Leanna experienced morning sickness but this time it was for a much shorter period. Overall, she felt pretty good until the last month, and then she became more uncomfortable with every passing day.

Unfortunately I cannot give you information regarding her leucine levels because she did not have blood work taken very often. Leanne has never been compliant with her diet. She continued eating foods that she was not allowed to eat and did not drink her formula every day. Not surprisingly, when she finally started sending in blood work, her amino levels were always elevated.

As she got closer to her due date, the doctors at Yale decided to schedule her for a C-section to avoid the stress of labor. Her official due date was April 28th but her C-section was scheduled for April 21st. On the morning of April 21st, we arrived at the hospital and they prepped her for the csection. I was very nervous watching her being wheeled into the operating room because I kept remembering the first time we were in this situation and all the drugs she was given to make the labor progress for a vaginal delivery before they realized a C-section was needed. I kept pacing the floor and looking at the clock hoping she would be out soon. After 2 hours, she was wheeled out to the recovery room fully alert and holding her new baby boy. She commented that this time she was able to actually hear the baby cry when he was born unlike her first time. After several hours in recovery, she went up to her room and remained in the hospital for 3 days.

During her hospital stay, I brought MSUD II to the hospital so she could continue drinking it, and the nutritionist tried limiting her protein intake to 8 grams a day. Leanna was always eating more protein than the doctor recommended and her leucine levels were always elevated.

Leanna and baby were discharged on the 4th day and she continued to feel good. When she returned home, she decided to eat low protein foods and continue drinking her formula because she realized it made her feel better. Unfortunately this only lasted a few days before she went back to eating any foods she desired and not drinking her formula every day.

Fortunately, both of Leanna’s children are healthy.

I have discussed liver transplant with her. Leanna says she is afraid she will die during the surgery. She also has a problem swallowing pills and gags which could be a serious problem with taking anti-rejection medication. Every day is a challenge with Leanna and I hope some day soon she will finally realize she must stay on her diet and drink her formula to feel her best.

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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NBS-MSUD Connect was launched as part of the Newborn Screening Connect patient registry (NBS Connect) in 2013 through a partnership between the Department of Human Genetics at Emory University, the Maple Syrup Urine Disease (MSUD) Family Support Group and other key stakeholders.

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Cambrooke Therapeutics

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Emory Metabolic Camp 2018 Announcement

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MSUD Advocacy Report

Medical Nutrition Equity Act

The Medical Nutrition Equity Act (MNEA) would require all private insurance plans (state regulated or self-insured/self-funded) and federal health programs, including Children’s Health Insurance Program, Tricare, Medicaid, Medicare, and Federal Employee Health Benefit Plans, to provide coverage for formula and low-protein foods for all children and adults with MSUD.

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The MSUD Family Support Group Is Excited To Announce Their Participation In The Million Dollar Bike Ride

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19th Biennial MSUD Symposium

I can’t believe that almost two years have passed and it is time for another MSUD Symposium! I am especially excited about this conference because I’ve built in extra time for social interaction.

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A Child's Life

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