Couple of Twin Cities prepare a possible solution to the rare disease of his son

Leo St. Martin, two years old, was diagnosed with Pompe disease while he was only four months old. This means that a complex sugar called glycogen accumulates in its organs and that its body does not have the proper enzyme to break it down.

The accumulation can lead to organ failure. In Leo's case, his heart tissue was thick and swollen.

"His heart had become so big that he was breaking his left lung," said Leo's mother, Anne St. Martin.

"They told us: Do not expect him to eat alone, breathe alone, walk," said Leo's father, Denis St. Martin.

The standard treatment for Pompe disease is called enzyme replacement therapy. Every week, Leo receives an infusion of a synthesized version of the missing enzyme.

However, the results have been disappointing. Leo still had heart problems, as well as difficulty eating and breathing.

Dr. Marc Patterson of the Mayo Clinic said this could be a common barrier.

"He had a long time receiving replacement therapy and he was not really making any progress," Patterson said.

In February 2017, Leo's parents began experimenting with his diet to try to do what an enzyme replacement therapy could not. The St. Martins have imposed a strict ketogenic diet: high content of fats and limited sugars and carbohydrates.

"It stops feeding the disease," said Denis St.

The St. Martin believed that science made sense. By feeding Leo in a high-fat diet, they transform the main sources of energy in his body, from sugar and carbohydrates to fat. This change makes it easier for Leo to break down the amount of harmful glycogen accumulated in his tissues and organs.

"He has a 2: 1 ration, so he has two fats for each carbohydrate," said Denis St. Martin.

Surprisingly, what Leo's parents do seems to work.

"I think I noticed that her strength and energy were starting to improve," said Anne St. Martin.

"We saw that everything was starting to happen, they told us that it would never happen," said Denis St. Martin.

Cardiologist Jonathan Johnson at the Mayo Clinic said that Leo's heart disease had improved. The swelling is reduced and his heart is functioning normally.

"If I showed his echocardiogram to another cardiologist, they would tell me that it's normal," Johnson said.

The improvement is so important that Leo's doctors are launching a pilot study on Leo's diet. They want to know if it could help other patients like him.

Leo is still receiving enzyme replacement therapy, so his doctors want to know how much the diet is making a difference.

"Obviously, he's getting a lot better since he's been on a diet," Patterson said. "We think it's very encouraging, it's a very strong circumstantial evidence."

The pilot study is expected to be launched later this year.

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