Boy, 9, with one-in-100m genetic disorder receives FIVE organ transplants after waiting nearly entire life for a match

A boy from Michigan with an extremely rare genetic disorder has received five organ transplants after waiting his whole life for a match.

Jakob Perez has microvillus inclusion disease (MVID), which stops his body from absorbing food properly.

The condition – which affects fewer than 100 people worldwide – means he has to be administered crucial nutrients through an IV.

Jakob was in need of 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 little boy of about the same age and size.

Jakob underwent surgeries to receive a transplanted stomach, large intestine, small intestine, liver and pancreas on June 26

Finally, what Ms Perez called the worst day for another family became her family’s best day. Doctors called them and said Jakob would be receiving his transplants from a deceased donor just two days later in Pittsburgh. 

Mickaela Perez, Jakob’s mom, said: ‘They called us Monday afternoon and said, “We have a match, and we need you to get to Pittsburgh.”‘

Jakob, whose mother described as a ‘light’ and a miniature neighborhood Mr Rogers, underwent the five-organ transplant on June 26. 

She added: ‘Just thank you. The worst day of their life, it was the best day of ours. And we just want to say thank you. 

‘That’s not even adequate, but just thank you. And I hope that one day we get to meet you and that please know that we will cherish this gift of life for an eternity.’

Joshua Perez, Jakob’s dad, told local station WNEM: ‘It’s been surreal. I mean to be honest with you, we were getting to the point to where we weren’t sure it was ever going to happen. We tried to prepare for it as best we could.’

Jakob still has a long road of recovery ahead of him – two months in the hospital and a three-month stay in Pittsburg after that for follow-up care.

Jakob’s mother Mickaela [far left] said she got the life-changing call telling her they had a donor match for her son on a Monday and by Wednesday, he was in a Pittsburgh operating room

Jakob has a long road of recovery ahead of him – two months in the hospital and a three-month stay in Pittsburg after that for follow-up care.

MVID leads to chronic diarrhea and prevents the body from absorbing vitamins and minerals. 

Jakob can eat and drink, but because he gets none of the nutritional benefits, he has been receiving nutrition in the form of calories, proteins, fats, vitamins and minerals, electrolytes, and fluids through an IV his entire life.

MVID primarily affects the small intestine but creates problems for other organs in the GI tract. 

It is caused by defects in the cells lining the small intestine. Specific genetic mutations affect tiny finger-like particles 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 critical organ to replace. But it’s not the only organ adversely affected by the exceedingly rare disorder.

The large intestine, which takes over after the small intestine does its work pulling nutrients from food, absorbs much of the remaining fluids and electrolytes that the small intestine didn’t extract. 

Jakob has received vital nutrition through an IV his entire life. His small intestine cannot absorb calories and other vitamins from food

But, because the small intestine can’t process the nutrients and liquids effectively, most of it moves into the large intestine, which cannot handle that volume.

When the dysfunction of the small intestine overwhelms the large intestine’s capacity, the body can’t retain nutrients and patients experience watery stool.

The stomach sustains lasting damage due to years of being unable to absorb nutrients fully.

Chronic malabsorption affects how well the stomach empties, as well as the health of the stomach lining, making a transplant necessary.

Similarly, long-term damage from the various gastrointestinal issues caused by the disorder impacts the pancreas’ ability to produce crucial digestive enzymes, further exacerbating the problem of absorbing fats and proteins.

And liver problems arise as a result of spending years – in this case, nine – hooked up to an IV for nutrition. 

This can cause fatty liver as well as a build-up of scar tissue and eventually liver failure.