A Michigan boy with an extremely rare genetic disorder received five organ transplants after waiting his entire life for a match.
Jakob Perez suffers from microvillus inclusion disease (MVID), which prevents his body from absorbing food properly.
The disease, which affects fewer than 100 people worldwide, means essential nutrients must be administered through an intravenous line..
Jakob needed a new stomach, large intestine, small intestine, liver and pancreas and his family had been waiting nine years for a donor, who had to be another child of approximately the same age and size.
Jakob Perez of Chesaning, Michigan, was born with a rare condition that prevents him from processing nutrients from liquids and food.
Jakob underwent surgery to receive a stomach, large intestine, small intestine, liver and pancreas transplant on June 26.
Ultimately, what Ms. Perez called the worst day for another family turned into the best day for her family. Doctors called them and told them that Jakob would receive his transplants from a deceased donor just two days later in Pittsburgh.
Mickaela Perez, Jakob’s mother, said: ‘They called us on Monday afternoon and said, ‘We have a compatible candidate and we need you to get to Pittsburgh.’
Jakob, whose mother described him as a “Mr. Light” and a miniature “Mr. Rogers” of the neighborhood, underwent the five-organ transplant on June 26.
She added: “Just thank you. The worst day of your life was the best day for us. And we just want to say thank you.”
“That’s not enough, but simply thank you. And I hope that one day we can meet you and that you know that we will treasure this gift of life for all eternity.”
Joshua Perez, Jakob’s father, he told local station WNEM:It’s been surreal. To be honest, we were getting to a point where we weren’t sure this was going to happen. We tried to prepare as best we could.
Jakob still has a long road to recovery ahead of him: two months in the hospital and a three-month stay in Pittsburgh for follow-up care.
Jakob’s mother, Mickaela (left), said she received a life-changing call on a Monday saying they had a match for her son and that he was in an operating room in Pittsburgh by Wednesday.
Jakob has a long road to recovery ahead of him: two months in the hospital and then a three-month stay in Pittsburgh for follow-up care.
MVID causes chronic diarrhea and prevents the body from absorbing vitamins and minerals.
Jakob can eat and drink, but since he is not getting any of the nutritional benefits, he has been receiving nutrition in the form of calories, protein, fat, vitamins and minerals, electrolytes, and fluids through an IV his entire life.
MVID primarily affects the small intestine, but causes problems in other organs of the gastrointestinal tract.
It is caused by defects in the cells that line the small intestine. Specific genetic mutations affect tiny finger-shaped particles found on the surface of intestinal cells.
These tiny particles, called microvilli, are essential for nutrient absorption as they increase the surface area of the intestinal lining.
This makes the small intestine the most important organ to replace, but it is not the only organ negatively affected by this extremely rare disorder.
The large intestine, which takes over after the small intestine does its job extracting nutrients from food, absorbs much of the remaining fluid and electrolytes that the small intestine didn’t extract.
Jakob has been receiving vital nutrition through an intravenous line all his life. His small intestine is unable to absorb calories and other vitamins from food.
But because the small intestine cannot process nutrients and fluids effectively, most of it passes into the large intestine, which cannot handle the volume.
When small bowel dysfunction exceeds the capacity of the large bowel, the body cannot retain nutrients and patients experience watery stools.
The stomach suffers lasting damage due to years of inability to fully absorb nutrients.
Chronic malabsorption affects stomach emptying as well as the health of the stomach lining, making a transplant necessary.
Similarly, long-term damage from the various gastrointestinal problems caused by the disorder affects the pancreas’ ability to produce crucial digestive enzymes, further exacerbating the problem of fat and protein absorption.
And liver problems arise as a result of spending years – in this case, nine – hooked up to an intravenous line for nutrition.
This can cause fatty liver, as well as scar tissue buildup and eventually liver failure.
