Two-year-old Leo St. Martin was diagnosed with Pompe disease at the age of just four months. This means that a complex sugar called glycogen builds up in his organs and his body does not have the right enzyme to break it down.
The structure can lead to organ failure. In Leo's case, his heart tissue was thick and swollen.
"His heart had become so big that it squeezed his left lung," Leo's mother Anne St. Martin said. I do not expect him to eat alone, breathing alone and running, "said Leo's father, Denis St. Martin.
Die Standard treatment for Pompe disease is called enzyme replacement therapy, and each week Leo receives an infusion of a synthesized version of the missing enzyme.
The results were unconvincing, however, and Leo still had heart problems and problems with eating and breathing.
Dr. Marc Patterson of the Mayo Clinic said that this can be a common hurdle. "
" He had a long time receiving replacement therapy and he really made no progress, "Patterson said.
In February 2017, Leos started Experimenting with his diet to experiment with what the enzyme replacement therapy failed to do, the St. Martins imposed a strict ketogenic diet: high in fat, low in sugar and low in K ohlenhydrate.
"It ceases to fuel the disease," said Denis St. Martin. By giving Leo a high-fat diet, they convert his body's main fuel sources of sugar and carbohydrates into fat. This change makes it easier for Leo to reduce the amount of harmful glycogen that accumulates in his tissues and organs.
"He has a 2-to-1 ration, so he has two fats for every carbohydrate," Denis St. Martin said.
Surprisingly, what Leo's parents do seems to work.
"I think I've noticed that his strength and energy are beginning to improve," said Anne St. Martin.
"We've seen everything They told us it would never happen," added Denis St. Martin.
Cardiologist Jonathan Johnson of the Mayo Clinic said Leo's heart disease has improved. The swelling is reduced and his heart is functioning normally.
"If I showed his echocardiogram to another cardiologist, he would tell me it was normal," Johnson said.
The improvement is so significant that doctors from Leo are launching a pilot study around 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 the difference the diet actually makes.
"Obviously he's been doing much better since he was on the diet," Patterson said. "We find that very encouraging, it's very strong circumstantial evidence."
The pilot study is expected to be published later this year.
More information about the Pompe Warrior Foundation can be found here.