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A little over a year ago, in January, Jeff was just not himself. He had limited energy, was not eating well, and often appeared slightly agitated. We thought that it was SAD (seasonal affected disorder) so we got out the light bar and made sure he put all the lights on when in a room. But this was not the cause. His condition got worse so we took him to see Dr. Morton, even though Jeff yelled at us for” kidnapping” him from his job at McDonald’s. His blood leucine levels were slightly elevated and the ratio of isoleucine and valine was not normal. Also his tryptophan levels were very low. This enzyme helps regulate mood. We increased his Zoloft, gave him Melatonin, and 5-hydroxytryptophan (for a brief period). He also went on a sick day regime. Dr. Morton helped us understand that because Jeff is 41, his metabolism has slowed and he needs less protein. Jeff has a variant form of MSUD so he has always been able to handle more daily natural protein. We had to look at his diet and start limiting some of his snacks, many of which had 1 gm of protein. The 2 toughest changes were French fries and orange juice. A small serving of McDonald’s French fries has 3 gm of protein so he now has 2 hash browns at lunch plus a salad. Orange juice is high also so he now drinks an orange/pineapple drink. We have been using some gluten free products. After these changes, we had his blood levels checked and his leucine level was within normal range, much lower than it used to be. Jeff is back to the fun guy he has always been. He sleeps better due to the melatonin. We hope that when he is in his 50’s this will not start again. We also hope, as do all of the MSUD patients, that there will be a cure by then or at least a drug that allows them to consume more daily natural protein.

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From The Editor

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

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A Child's Life

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