Family battles against a one-in-a-million genetic disease affecting their sons (with video)

Family battles against a one-in-a-million genetic disease affecting their sons (with video)

July 6th, 2013 by Kate Harrison Belz in Local Regional News

Tre Johnson, 2, left, and his brother Bryson, 1, from Sweetwater, Tenn., play in the kids courtyard Wednesday at Erlanger Hospital in Chattanooga, Tenn., before they go to have blood drawn in the lab.

Photo by Doug Strickland/Times Free Press.

HOW TO HELP

A fund has been set up to help support the Latham/Johnson family during the grueling process of finding and obtaining bone marrow transplants for the boys.

You can help by donating to:

The Benefit Fund for Bryson and Tré Johnson

Citizen's National Bank in Sweetwater, Tenn.

WHAT IS IPEX SYNDROME?

• IPEX (which stands for immunodysregulation polyendocrinopathy enteropathy x-linked) syndrome is a condition that affects the immune system of a baby in the first six months of life.

• Most patients with IPEX syndrome are males, and the disease can be life-threatening in early childhood.

• IPEX is characterized by the development of multiple autoimmune disorders, which means the immune system malfunctions and attacks the body's own tissues and organs.

• Although IPEX syndrome can affect many different areas of the body, autoimmune disorders involving the intestines, skin and endocrine glands occur most often.

• The symptoms of IPEX syndrome include severe diarrhea, diabetes, skin conditions (such as eczema, erythroderma, or psoriasis), anemia and thyroid disease. It can cause failure to gain weight and grow at the expected rate.

• Treatment of IPEX syndrome consists of medications that limit immune system functioning. The only real cure is through a bone marrow transplant.

Source: National Institutes of Health

For a long time, the mother's constant frustration was that everyone thought her boys looked just fine. On days like Wednesday, it's easy to see how people could assume that.

That morning, Tré Johnson, 2, and Bryson Johnson, 1, careened on tricycles at breakneck speed through the rooftop garden at T.C. Thompson Children's Hospital at Erlanger. They scampered in circles, laughing and squabbling loudly with their 3-year-old brother, Kaivon Latham.

"It's a good day," the boys' pediatrician said to the boys' mother, Jasmine Latham. "They really look great today."

The mother smiled softly and nodded. Days like this are a treasure for the family. Everything seems normal. The boys are able to be their squirmy, silly selves. For a few minutes, she doesn't have to think about the blood tests, the doses of medicine, the looming transplants.

On many days, that's all she thinks about. On many days, Tré can't even crawl out of bed, he's so sick. And Bryson is fighting a siege of infections.

Inside their roly-poly toddler bodies, the two youngest brothers are battling a life-threatening genetic disease so rare that most doctors the family has told about it are completely unfamiliar with it.

There are only 150 to 200 known cases of the disease -- called IPEX syndrome -- in the world.

And two of them are the Johnson brothers.

The disease affects the immune system of male babies very early in their life. Multiple autoimmune disorders develop in the body, meaning the boys' immune systems malfunction and attack their own tissues and organs.

"The best way I can explain it is that their immune system is doing everything what it shouldn't be doing," said the boys' pediatrician, Dr. Kourtney Santucci. "It is attacking their bodies in harmful ways, and it is not protecting their bodies from infections."

The symptoms of IPEX syndrome include diabetes, thyroid disease, skin conditions, severe diarrhea and anemia, among others. It stunts growth and leaves the boys vulnerable to infections like pneumonia.

The family doesn't have insurance. The boys are on TennCare, but Jasmine, a single mom, has been forced to quit her job to stay with them.

The boys require regular, extensive treatments to keep the infections from the disease at bay. But the only chance for a cure is a bone marrow transplant.

This week, the Lathams had planned to leave for a yearlong stay at the Cincinnati Children's Hospital Medical Center in Ohio, where they would start the lengthy, grueling transplant process at the facility, which is known for its work with genetic diseases.

TennCare initially had agreed to cover the genetic testing and treatment there. But on Wednesday, the Lathams received word from TennCare that the transplant was not approved. It would have to be performed in-state -- though no state facilities have a proven track record of caring for children with IPEX.

The news has put the momentum for a cure on hold. It is still not clear where the boys will find help -- and when.

•••

When Tré was born two years ago, he seemed like a healthy baby boy.

But as the months went by, it grew clear that something was wrong. He was 7 months old and he still acted like a newborn. He slept all day, only waking up to eat. His poop wasn't changing. He wasn't growing.

Doctors said nothing was wrong, so their mother changed doctors. But the problems persisted.

At 8 months old, Tré would suddenly turn blue and stop breathing. The episodes happened again and again.

His windpipe had been damaged by a bad infection, doctors found. They kept giving him injections, but the problems persisted.

"Every time he got sick, he just couldn't get over it. He always had to come back," explained his mother.

With Bryson, things were bad from the start. He had double pneumonia two weeks after he was born, followed by a kidney infection. His allergies were out of control.

When the boys started day care last year, Tré was getting sick every week. Ear infections, then respiratory infections.

"There wouldn't be a month's time that we weren't at the hospital or in the doctor's office," Jasmine Latham said.

And they weren't petty illnesses. Oftentimes, Tré would be in the hospital for a week or more at a time.

Jasmine soon had to quit her restaurant job and drop out of her college classes. The boys were just toddlers. She didn't know what was wrong with them, but she was ready to give up everything -- all normal life -- to help them fight.

•••

Santucci first met the brothers when Tré was being treated at the hospital for anemia one year ago.

Santucci, a pediatrician at Children's, directs the medically complex care clinic for the hospital -- coordinating treatment and care for kids who have rare or complex illnesses and see a number of doctors.

The Johnson brothers needed a lot of coordination.

"I think the best way to sum it up is that these boys stayed sick all of the time," said Santucci.

As care for the boys continued, Santucci began to suspect there were deeper problems than what were on the surface.

"With Tré, it seemed like it wasn't just the anemia. It wasn't just eczema. It wasn't just diarrhea," she explained. "When you added it up, it seemed like an unusual burden of illnesses -- certainly for one child, but then when you looked at them together as brothers, the kinds of things that were going wrong were so similar it started to make sense that there were genetics tying it together."

It was clear the boys had some kind of immune deficiency, but it wasn't clear what it was.

Santucci spearheaded an effort to have TennCare cover genetic testing and treatment at Cincinnati Children's.

After a four-month process, TennCare eventually approved the request, and the family went up to Cincinnati in January.

The tests were long and involved, and their disease didn't even show up in the first round of tests.

But in May, Jasmine and her mother, Melissa Latham, got a phone call from Cincinnati.

The boys had IPEX.

Almost none of the doctors the Lathams had been consulting with had ever heard of the syndrome.

The family doesn't blame them. The disorder wasn't even characterized till the early 2000s. No one at Erlanger has ever knowingly encountered it.

"The truth of the matter is that there have probably been many more children with IPEX syndrome," Santucci said. "And they've probably just unfortunately passed away due to infections and it's not been understandable why."

•••

Doctors at Children's Hospital have formed a team to rally around the boys. The brothers are now on a regimen of treatments and tests to help monitor and manage their condition. They take drugs to help suppress their immune system harmful activity. Their blood is regularly checked.

Tré receives infusions of pooled antibodies, which help replenish his system with the proteins to help protect him from daily infections.

Santucci calls the treatments the boys are getting a "Band-Aid" to keep their immune system from hurting them, and preventing infections while waiting for "definitive treatment."

That will be a bone marrow transplant, which wipes out the white blood cells and the rogue immune system. Those will then be replaced with the donor's new cells.

A donor match has been found for Tré through the Cincinnati hospital. The search is still on to find one for Bryson.

The boys would have to go through the procedure one at a time. Whichever boy is in the hospital will have to be in total isolation for weeks. Mother and grandmother will have to take turns staying full time with each, and caring for Kaivon.

The separation will be hard on the boys, their mother says. Because of the worries over infections, they have rarely been able to be around other kids. They do everything together.

"We've just been telling Kaivon that we're trying to make them better," their grandmother said. "He knows they're very sick."

This cure for IPEX has been around for less than a decade, and its rate of cure is 80 percent, Santucci said. If it's successful, they could have the chance for a normal life.

To get the boys a cure, the family will have to drop everything. Melissa Latham quit her job this month. The boys and their mother have moved into their grandmother's house.

Jasmine Latham knows she won't be able to go back to work or school for over a year. She's been struggling with shock and anxiety over the avalanche of developments.

"There is never really a time I can get away from what's going on," she said as she held Bryson's hands. "I try not to think about it all of the time, but with [the transplant] getting closer ... I was in denial at first, but it's going to happen."

•••

The family had already started packing to leave the weekend for their yearlong odyssey in Cincinnati. Doctors had already scheduled appointments to get the transplant process started. Tré's donor had been screened.

But on Wednesday, the family found out that TennCare had denied out-of-state coverage.

Now the Lathams are trying to appeal the decision.

Both Vanderbilt University Medical Center and St. Jude Children's Research Hospital provide bone marrow transplants. But neither has the experience with this disease. Vanderbilt has never knowingly treated a case of IPEX, and St. Jude has treated one, the grandmother said.

If they end up having to switch the procedure to another hospital, they may have to start the marrow donor-match process all over again.

Even though Cincinnati Children's has only had 10 cases of IPEX, that hospital at least has a protocol for treatment, Santucci said.

"The thing is, we don't really want to be in Cincinnati for an entire year," Melissa Latham said. "But we don't really have a choice."

The process is effectively on hold until TennCare approves the next step. The family can only wait at this point; they cannot do anything to treat the boys without the TennCare assistance. The life-saving treatments are "prohibitively expensive" without insurance, Santucci said.

The boys are stable for the moment, but there should be no further delay of the transplants, she emphasized. Both boys soon could develop diabetes or thyroid disorders.

The Lathams haven't given up hope. They'll go wherever they can to find a cure, they say.

"Dr. Santucci has had to tell us ... it's not a sprint. It's a marathon," Melissa Latham said. "I have to remind myself that when I get overwhelmed: Take a deep breath. Keep going."

Contact staff writer Kate Harrison at kharrison@timesfreepress.com or 423-757-6673.