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Ducey: Newborn screening would spare these families from heartbreak and turmoil

Joy Lynn Littlesunday of Cameron, Ariz., left, and Ava George of Chandler play together on the Ninth Floor on February 8. (Photo by Gary Grado, Arizona Capitol Times)

Joy Lynn Littlesunday of Cameron, Ariz., left, and Ava George of Chandler play together on the Ninth Floor on February 8. (Photo by Gary Grado, Arizona Capitol Times)

It took multiple hospitalizations for various ailments – and hundreds of thousands of dollars – to figure out what was happening to Angel Cortez-Pirie.

Angel, now 21 months old, has severe combined immune deficiency or SCID. He spent much of his young life in a hospital, where he received a bone marrow transplant.

Rachael Pirie, Angel’s mom, hopes other families can avoid the turmoil her family went through to get the correct diagnosis, allowing them to treat the disorder earlier and more effectively.

In the most basic terms, babies born with SCID don’t have a normal immune system. Unable to fight them off, they are susceptible to one infection after another.

Now, Gov. Doug Ducey wants to add SCID to the state’s newborn screening for a small cost, aligning Arizona with the majority of states that already test babies for the disorder.

Pirie, joined by other parents of SCID children, came to the Arizona Capitol Wednesday to tell lawmakers about the disorder and how they can help. At the governor’s tower this morning, Pirie showed Ducey photos of her son.

Angel, who was born in Arizona, wasn’t screened for SCID, Pirie said.

“He wasn’t diagnosed until after three hospitalizations, three viruses, pneumonia, [being] on oxygen, only weighing six pounds at three months old. He was below his birth weight,” Pirie said.

He since has had a bone marrow transplant and is stable now, though he has kidney stones and hypothyroidism, Pirie said.

But she could have been spared a lot of heartache, and the state could have saved a lot of money, if Angel had been diagnosed sooner.

“Children who are screened in other states, they have the luxury of being isolated in their homes. They don’t have to be hospitalized. Angel was hospitalized for eight months, from three months old till eleven months, which does put a toll on you mentally,” Pirie said.

Rachael Pirie's son has severe compromised immune deficiency disorder, which could be included in the state's newborn screening. She talks to Gov. Doug Ducey about her son and shows him photos on February 8, 2017. (Photo by Gary Grado, Arizona Capitol Times)

Rachael Pirie’s son has severe combined immune deficiency disorder, which Gov. Doug Ducey is pushing to include in the state’s newborn screening program. On February 8, 2017, Pirie talks shows the governor photos of her son. (Photo by Gary Grado, Arizona Capitol Times)

Angel’s care is paid for by the state’s Medicaid program, the Arizona Health Care Cost Containment System. When he was discharged from the hospital in March, his bill was $2.5 million, Pirie said. His medications cost about $2,000 every two weeks, she said.

Catching the Disorder Early is Key

SCID is a rare genetic disorder that’s incredibly costly if not caught early. Commonly called “bubble boy disease,” SCID was popularized in the 1976 John Travolta made-for-TV movie, “The Boy in the Plastic Bubble.”

The Immune Deficiency Foundation estimates two to four babies are born with SCID in the state each year. Nationwide, about 100 babies are diagnosed with SCID annually.

The incidence of SCID is higher for Navajo babies. While 1 in 100,000 babies in the general population are affected by the disorder, it’s more like 1 in 2,500 among the Navajo babies. On the Navajo reservation, hospitals routinely include SCID testing in their newborn screenings.

But if the disorder isn’t detected and treated within one year, the baby will typically die, according to the Immune Deficiency Foundation.

To treat SCID, babies may receive a bone marrow transplant, ideally within the first three months of life. With the bone marrow transplant, the survival rate is as high as 94 percent. But if the child gets the transplant after 3.5 months old, the survival rate drops to less than 70 percent.

Without the screening, it’s tough to tell at birth if a baby has SCID. There are no outward signs of the disorder, and it’s not typically detected until a baby has suffered from repeated severe infections.

The foundation estimates that early treatment costs about $50,000 per baby, while late treatment can cost more than $2.3 million in Arizona, not to mention lifelong medical issues.

Only seven states don’t include SCID in their newborn screenings, according to the Immune Deficiency Foundation. The foundation has been working since 2008 to get other states to pass laws to add SCID to screenings.

Small Cost, Big Payoff

Ducey’s budget included about $500,000 to add SCID to the state’s newborn screening, which currently tests blood for thirty serious health problems.

There’s also a bill from Sen. Sylvia Allen, R-Snowflake, which would increase the costs of the state’s newborn screening from $30 to $36 to cover the cost of the SCID test.

Allen’s bill, SB1368, was set for a hearing in the Senate Health and Human Services committee today.

A portion of the fee increase would be covered by AHCCCS, which the Joint Legislative Budget Committee estimates at $368,000 per year. Of that amount, $120,000 will come from the state’s general fund, with the remainder coming from the federal government.

For Ducey, the “millions of dollars of cost savings” don’t compare to the potential to save parents and babies from the turmoil of catching the disorder late, or not at all.

“The most persuasive argument is the human argument. These are precious lives. You hear these stories from these families and what they go through with children that live, but we also got stories of children that have died in these situations. So, that’s first and foremost,” he said.

Erica Billy's daughter has severe compromised immune deficiency disorder, which could be included in the state's newborn screening. (Photo by Gary Grado, Arizona Capitol Times)

Erica Billy’s daughter has severe combined immune deficiency disorder. She says including the disorder in the state’s newborn screening will spare others from heartache and turmoil. (Photo by Gary Grado, Arizona Capitol Times)

The first sign of trouble for baby Ava George? She was born with a fever.

The doctors didn’t think anything of it. She was put on antibiotics and stayed in the hospital a few extra days, said her mom, Erica Billy.

By the time Ava was three months old, she was taking regular trips to the emergency room, and there were clear signs something by wrong. She was tested for a host of problems and given different medications. She was even diagnosed with leukemia.

Ava’s grandmother works as a nurse on the Navajo Nation, and she told Billy that Ava should be tested for SCID. Ava was finally diagnosed with the disorder and went to San Francisco for care. She got a bone marrow transplant in June 2014, when she was about five months old.

“We know she needs another transplant again because her immune system is getting weak again. She’s developing skin infections and viruses,” Billy said.

Billy echoed Pirie’s plea to include SCID testing in the newborn screening to spare other children the rounds of infections Ava went through before figuring out what was going on.

“It was really heartbreaking to see. No baby deserves to go through that… If we didn’t catch it sooner than we did, I think we would have lost Ava,” she said.

Sparing Families From A Medical Turmoil

Kye Johnson’s story helped change the law in Florida to include SCID in newborn screenings. Kye’s mom, Alethea Brown, hopes Arizona will do the same.

Now six years old, Kye spent two and a half years in isolation at a Florida hospital while being treated for the disorder. Brown said the family went from Arizona to Florida on vacation when Kye was about a year old. They ended up staying for almost three years there after Kye went to the emergency room before their vacation ended, she said.

“He went a whole year without any tests (for SCID) so he was so severely sick that, before transplant, we spent nine months trying to get him healthy enough to receive a transplant,” Brown said.

Alethea Brown's seven-year-old son has severe compromised immune deficiency disorder, which could be included in the state's newborn screening. (Photo by Gary Grado, Arizona Capitol Times)

Alethea Brown’s seven-year-old son has severe combined immune deficiency disorder, which could be included in the state’s newborn screening. (Photo by Gary Grado, Arizona Capitol Times)

His first bone marrow transplant didn’t work, and he had to get another one. He had “so many complications” over the past six years, Brown said. Now, he’s experiencing kidney failure and will need a double kidney transplant, and he’s losing his eyesight, Brown said.

“Even though he’s had his bone marrow transplant, he’s not out of the woods. And a lot of the kids, unless they’re transplanted right away, we see all these complications,” she said.

Kye’s care was covered by Medicaid in Florida, and it cost many millions of dollars, Brown said, much of which could have been avoided if he had been tested at birth.

“Any child that’s treated right away, they don’t have those complications. They’re usually treated, transplanted within the first month, and they’re released a couple months later. They might have treatments ongoing for a couple years, but it’s not usually to this extent,” she said.

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