Being happy with a slice of pizza: medical stories worth telling

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It is hard to imagine what our life would be like if we could not eat the vast majority of foodstuffs, even if we had rationed products as healthy as vegetables in our daily diet. 

We are what we eat. That is why it is so hard to put oneself in the shoes of patients with Maple Syrup Urine Disease (MSUD). These are people who have the misfortune of having a very limited diet.

MSUD is an inherited genetic disorder. The disease appears because of an error of metabolism, which generates the accumulation of amino acids (leucine, isoleucine and valine) that patients eliminate through body fluids such as urine.

The name of this disease, which is classified as rare (1 in every 200,000 births), stems directly from one of its symptoms: the smell of the urine of these patients is similar to maple syrup.

Fortunately, the team of Dr. George Mazariegos at Children’s Hospital of Pittsburgh, USA, has succeeded in curing the disease through liver transplantation. A treatment that provides patients the enzymes necessary to process the proteins and so avoiding the risks of brain damage and death of MSUD.

This transplant program developed the first comprehensive and disciplinary protocol of MSUD patients, a true medical milestone that has changed the lives of people like Crystal Martin, a young American woman who has become the 50th patient to have undergone a transplant performed by Dr. Mazariegos.

At the time of the operation, Crystal’s disorder was severely affecting her family. The dietary restrictions were very severe, and the amino acid levels signalled the possibility of serious brain damage.

The disease had become a major impediment to Crystal, causing her to frequently miss class as well as having her mental clarity affected.

Crystal placed herself in the hands of Dr. Mazariegos and his team of gastroenterologists, hepatologists, and metabolism specialists from various institutions and centres. We must bear in mind that a transplant of this nature requires greater precautions up against other similar interventions, to the extent that the risks include metabolic or neurological crises during the operative and postoperative periods, therefore, contingency plans exist for all possible cases. 

On 27 November 2012, Crystal received a call that informed her that they had found a living liver donor for her transplant. The intervention completely changed her life. Crystal had not tasted meat, eggs or pizza, something which for other people of her age group is a natural part of life. 

Best Doctors is committed to becoming the bridge between patients (however complex their disease may be) and the best medical professionals in the world, so that stories like this one continue to be told.