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On Friday, February 28, 2020 I had the pleasure of serving on a panel in celebration of Rare Disease Day for Codexis, a protein engineering company based in Redwood City, CA. Codexis is currently in the process of developing a biotherapeutic treatment for PKU. The treatment Codexis has engineered for PKU is an active, therapeutic enzyme candidate which doesn’t get broken down in the gastrointestinal tract. It is administered orally and compensates for the absence of the patient’s missing natural enzyme by removing phenylalanine from the body. While this treatment is still in clinical trials, there is hope the same type of treatment may work for other inborn errors of metabolism (IEM) including MSUD.

The event kicked off with a presentation on IEMs from Dr. Gregory Enns, the head of Biochemical Genetics at Stanford (who is also my son Carter’s doctor). Two other doctors from Stanford gave presentations on the science aspects of rare diseases. The second half of the event featured me, a family with a teenage daughter who has PKU, and a woman with Homocystinuria. The patient perspective was all about life with an IEM. The PKU family brought a variety of low protein foods, scales, and a food journal to show the reality of living on a low-protein diet.

The woman with Homocystinuria described her life after being diagnosed at age 10 and relearning how to eat a low-protein diet after a decade on a normal diet. I shared with the audience the severity of MSUD and how quickly neurological damage can happen during a metabolic crisis. The Codexis employees in the audience asked insightful questions and many people came up to us afterward to thank us for sharing the reality of rare disease life. They were touched to see how the work they are doing in the biotherapeutic division can have a real impact on people’s lives.

The event at Codexis was a great opportunity to show others how we live day in and day out with metabolic diseases. Vitaflo contributed to the event by setting up a tasting table so attendees could sample their products, including their metabolic formulas. I overheard several people say they were surprised how palatable the formulas were. I left the event very encouraged about the future of treatments for MSUD, and mindful of how important it is to share our stories.

CHANGE THE LIVES OF MSUD ADULTS AND CHILDREN

The MSUD Family Support Group is currently funding several research projects and we are proactively looking for researchers interested in developing new treatments or finding a cure for MSUD. Significant funding is necessary if we are to accomplish this goal.
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