Published On: Tue, Feb 26th, 2013

Thursday is Rare Disease Day

By JULIA QUEEN

 

Millions of people around the world will be observing World Rare Disease Day on Thursday, Feb. 28. In the United State, a disease is considered rare if it affects fewer than 200,000 people. Some rare diseases are well known to the public.

However, many others are not such as in Trevor Queen’s case. You can imagine the loneliness of having a disease that most people have never heard of, that has no treatment, and that is not even being studied by any medical researchers.

Trevor has an extremely rare disease.  Matter of fact, he is the first confirmed case in the country and the 21st documented case worldwide. After 13 years of not knowing the underlying cause for his medical conditions, genetic testing finally confirmed a diagnosis of Succinyl-CoA: 3-ketoacid CoA transferase (SCOT) deficiency. Trevor also has a second rare disease called Ehlers Danlos Syndrome.

Everything mounting up to Trevor’s diagnosis of SCOT deficiency began when he was 3 ½ years old when he suffered his first of many seizures.  Initially, Depakote was prescribed, but within 30 days his seizures rapidly increased. Because of the serious health risks, it was decided that Johns Hopkins hospital was the best medical facility to wean him off of the Depakote and initiate the Ketogenic Diet.  The Ketogenic Diet is a treatment for seizure disorders.

The week before Trevor’s fourth birthday he was admitted to Johns Hopkins hospital.  Unfortunately, no one checked to see if Trevor had an Inborn Error of Metabolism before initiating the Ketogenic diet. The diet caused severe metabolic ketoacidosis, requiring multiple hospitalizations. Within 90 days, Trevor suffered serious medical complications, which required a two-week hospitalization at UNC Chapel Hill. This was when the search began to try and find the underlying cause for his medical conditions.

Rare Disease Day is about raising public awareness; hopefully sharing Trevor’s story will raise awareness on Succinyl-CoA: 3-ketoacid CoA transferase (SCOT) deficiency. Several medical treatments are contraindicated for this particular rare disease, the Ketogenic diet being one of them. Anyone with the potential of having Succinyl-CoA: 3-ketoacid CoA transferase (SCOT) deficiency should avoid such treatments. Just think, Trevor suffered serious life-threatening adverse reactions and endured multiple hospital admissions simply from being on the Ketogenic diet for mere 90-days.

Dr. Muenzer a Professor in the Department of Pediatrics at the University of North Carolina at Chapel Hill initially thought Trevor had SCOT disease in 2000; however genetic testing was inconclusive. The improvements made over the past decade on genetic testing made it possible to finally make a concrete diagnosis.  Dr. Muenzer plans to document his findings.

Nearly 30 million Americans have rare diseases.  For more information on rare diseases, visit www.rarediseaseday.us or www.rarediseaseday.org.

 

 

 

 

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