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Each parent of a child with MSUD carries a defective gene for MSUD along with a normal gene. The defective gene is a recessive gene, therefore parents are called "carriers" and are not affected by the disorder. Each child with MSUD has received a defective gene from each parent.

When both parents are carriers, there is a 1 in 4 chance with each pregnancy that the baby will receive a defective gene from each parent and have MSUD; a 2 in 4 chance the baby will receive one defective and one normal gene, thus becoming a carrier of MSUD; and a 1 in 4 chance the baby will receive two normal genes. Persons with two normal genes cannot pass MSUD to their offspring.









Indigo Charlie Mays - Variant MSUD Age 4

Meet our girl Indigo Charlie Mays. After a smooth pregnancy and delivery, she was born on July 21st, 2013 in Seattle, WA.

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Fundraising

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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NBS-MSUD Connect: Advancing MSUD Research And More

NBSCONNECT.ORG

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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Our Story

On April 23 2015, our precious firstborn son Eliyahu Tuvia was born in Jacksonville, FL. All seemed well and we took our bundle of joy home.

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MSUD Advocacy Update

Healthcare and issues facing the rare disease community have been at the forefront of national conversations over the past 6 months.

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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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Transform

A Child's Life

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