Colorado Springs News, Sports & Business

Solution to one medical mystery for Colorado Springs family brings more dilemmas

2 photos photo - R.J. Campos, 12, holds his little brother Elijah Sanchez, 1, while their mother April Sanchez stands in the kitchen while making dinner Thursday, April 30, 2014, in their Colorado Springs home. The two boys suffer from IPEX syndrome, a rare genetic disorder that doctors didn't diagnosis in either boys until Elijah was born.  (The Gazette, Christian Murdock) + caption
R.J. Campos, 12, holds his little brother Elijah Sanchez, 1, while their mother April Sanchez stands in the kitchen while making dinner Thursday, April 30, 2014, in their Colorado Springs home. The two boys suffer from IPEX syndrome, a rare genetic disorder that doctors didn't diagnosis in either boys until Elijah was born. (The Gazette, Christian Murdock)
By Jakob Rodgers Updated: May 4, 2014 at 8:15 am

True to toddler form, Elijah Sanchez eats crayons, throws food and often flashes a wide cheeky grin. - But beneath that 1-year-old's smile festers a deadly autoimmune disorder. - Still, Elijah's diagnosis last year of IPEX syndrome solved the mystery of his 12-year-old brother's troubled immune system and its near-fatal tendency to turn on itself. - It all created a whole new set of dilemmas for the Sanchez family as it embarked on the path toward improved health for the two children.

This month, Elijah will go to Children's Hospital Colorado in Aurora for a bone marrow transplant that, if successful, should fix the rare genetic disorder.

Without the procedure, Elijah's immune system would kick into overdrive and ravage his body, leaving him susceptible to one deadly condition after another.

In other words, the procedure should save him from the same suffering his brother endured over the last 12 years.

More children, young adults being diagnosed with IPEX syndrome

While most boys face odds around 1 in 250,000 of having IPEX, boys from mothers carrying a certain mutated gene have a one in two chance of getting it.

So while two of April Sanchez's four sons are healthy, R.J. Campos and Elijah live with a condition that often means death by the age of two.

April Sanchez didn't know she carried the gene until she gave birth to her youngest child.

Nor, for 12 years, could doctors figure out why R.J.'s body kept trying to kill itself.

Searching for answers

R.J. seemed like a perfectly healthy baby until his two-month vaccination shots.

Then came a string of 24 hospital stays before his first birthday.

R.J.'s body never adapted to the viruses - in hindsight, a hallmark symptom of IPEX syndrome. Instead, he contracted severe pneumonia, the first of many life-threatening conditions, April Sanchez said.

At the age of 2, he contracted nephrotic syndrome, a condition that causes the body to purge proteins during urination. Without those proteins, fluids began leaking into surrounding tissues, causing his body to swell. He went into remission two and a half years later, but only after enduring cocktails of chemotherapy and anti-rejection drugs.

"They (doctors) always said, 'If he had lupus, we would understand why he has this,'" April Sanchez said. "We have no idea why he has this."

Six tests for cystic fibrosis, four tests for HIV and myriad tests for other autoimmune disorders yielded no results. Doctors never did a genetic test on R.J., April Sanchez said. The thought never crossed her mind, either.

"We were always so sick, we were always dealing with the problem at hand," April Sanchez said.

Next came Hamman-Rich syndrome at the age of five, an aggressive - at times, fatal - brand of pneumonia that often requires patients to use a mechanical lung.

A photo album sitting on April Sanchez's living room table offers snapshots of the ordeal.

Tubes and wires led out of his body in every direction as he lay in a medically-induced coma surrounded by stuffed animals (he loved horses at the time, April Sanchez said, smiling). R.J. is wearing sunglasses indoors in another photo because he didn't want people to see him.

Flipping the page, April Sanchez points to a picture of R.J. in a hospital gown, his knees larger than his thighs. Severe atrophy from laying on a hospital bed took its toll, so he learned once more how to walk.

Little known about syndrome

It's difficult to say how many children have IPEX because doctors have so much to learn about it.

Slightly more than 80 people - including R.J. - have been diagnosed with IPEX through a lab run by Troy Torgerson, who has helped lead the research on IPEX as associate professor of pediatrics and immunology and rheumatology at Seattle Children's Hospital and the University of Washington.

He's aware of around 160 diagnosed cases around the world (a lab in England confirmed Elijah's diagnosis).

"I think there's many more than that out there," Torgerson said. "I think these are super sick kids as infants and sometimes they just don't get picked up before they die."

When describing the condition, Torgerson compares the body's immune system to an army, which is accustomed to fighting foes - in this case, viruses and bacteria - that invade its space.

The problem, however, is that kids with IPEX are missing regulatory T cells. These cells act like the army's psychologists, telling the troops that they did a good job fighting, but now they can stop.

Without the regulatory T cells, the body starts fighting diseases - but it does not stop.

"It's like an immune system that doesn't have any brakes," Torgerson said.

Often, children with the condition die before the age of two, he said. Vaccinations often initiate problems because the body starts fighting dead virus cells within each vaccination shot.

Usually, children with IPEX have three hallmark symptoms, Torgerson said. They have severe diarrhea, due to an autoimmune attack on the child's gut. They also have eczema from another autoimmune attack to the child's skin.

And IPEX children typically have diabetes and thyroid inflammation.

R.J. had the first two symptoms, but not diabetes.

Meanwhile, he kept getting sick.

A bittersweet answer

R.J.'s latest hospitalization began when his eyes turned yellow.

His initial scans showed a baseball-sized mass on his liver, and doctors later discovered a mass of lymph nodes had collected on the organ. The diagnosis: autoimmune hepatitis, which can lead to liver failure.

The rest of his body turned yellow - "like neon yellow," April Sanchez said. But the day before his scheduled liver transplant, R.J. began responding to medications.

He survived his latest brush with death. But doctors still had no answers for what made him so ill.

In the beginning, April Sanchez just wanted to know why - why wasn't he getting better? The question swirled in her mind for years.

"And then you kind of come to a resolve that there won't be an answer," April Sanchez said. "They don't know why."

Then she became pregnant with Elijah, her youngest son. And Elijah had prenatal diabetes.

A test of the infant's antibodies shortly after birth revealed nothing abnormal. Then doctors examined his genes and returned a diagnosis when he was 7 months old.

Elijah had IPEX.

A genetic test on R.J. soon followed, with the same results.

"It's the Catch-22," April Sanchez said. "It's a positive for R.J. And then I'm like, 'What does this mean for the baby?'"

Marrow transplant planned

The answer to her question comes this month.

Bone marrow transplants offer a possible cure for IPEX patients, and Elijah's opportunity is courtesy of a donor from Canada.

Once admitted to Children's Hospital Colorado, he'll undergo two weeks of diagnostics, nine to 12 days of chemotherapy (to suppress his immune system) and a day for the transplant.

He gets to go first because he's relatively healthy - besides the diabetes, he has only had two bacterial infections since his birth on Feb. 28, 2013.

R.J.'s shot at overcoming the disorder could take longer.

Scar tissue on his liver and lungs could complicate the procedure, so doctors want to be sure he's healthy enough.

And while he found the answer to the question everyone wanted to know, he has yet to find a bone marrow donor.

"I kind of wanted to do it now," he said, of his own transplant.

For the time being, he will continue fifth grade and try to live like any other boy his age. He pitches and plays third base for a little league baseball team. He loves the Chicago Bears (retired linebacker Brian Urlacher remains his favorite player).

The scars from all those surgeries - two on his torso, two on his shoulders and one on his neck - reveal themselves only when he lifts his shirt or points them out.

For now, he visits the doctor once every three weeks for powerful medicationsand uses oxygen at night.

He admits to keeping a watchful eye on preparations for Elijah's transplant, knowing his own opportunity could come next summer.

"I just have to think that God's by my side through this, and he's going to get him through this," April Sanchez said. "He's brought us through so much already."

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