Montville ― On her good days, Catalina Atizol is an average three-year-old, running around the house and playing games with her siblings.

Her bad days are drastically different as fevers, inflammation, bleeding issues and a lack of appetite leave her bedridden. Often, her symptoms require a hospital visit for IVs and steroid treatments.

This is the reality of living with CTLA-4 Haploinsufficiency, a genetic immune system disease that can cause permanent organ damage, autoimmune disease, cancer, and severe infections.

The rare disease was discovered in 2014 with roughly 500 people diagnosed in the world. For those diagnosed with the disease, the CTLA-4 proteins in their body are present, but do not function properly. Instead of telling T cells, which are an important part of the immune system, to stop “attacking” whatever pathogen is in the body, the cells continue to attack the body.

After a trip to the Mayo Clinic in Minnesota last August, genetic testing revealed Catalina and seven other family members have this genetic mutation, including her mother Jayne and Catalina’s 5-year-old sister Juliana. Each has a varying level of severity. Juliana has a mild case that is monitored, though Jayne’s mother passed away after suffering from complications from the disease.

Rough path to diagnosis

While they were waiting for the test results, Catalina caught a respiratory syncytial virus, which is similar to a cold for most people, in September. Because of her condition, Catalina’s immune compromised and the virus nearly killed her, her parents said. Both of her lungs collapsed and she had to eat with a nasogastric tube. She was vomiting blood and had a fever near 105 degrees.

Catalina’s rheumatologist figured out what was happening. He gave Catalina an injection that had worked with a prior patient, and within eight hours, “she was a different kid running around the hospital room,” her parents said.

When the genetic test results came back in January, the family was told they were the first family to suffer from this specific variation of the disease. The diagnosis opened up treatment options for the family, though the most effective medication is not FDA-approved and required the involvement of U.S. Rep. Joe Courtney, D-2nd District to acquire.

Jayne takes weekly injections with Catalina, which her husband Dan administers. They each need monthly injections as well. Juliana does not need treatment yet.

“It saved her life being on this medication,” Jayne, 28, said about Catalina.

In 2019, Catalina spent her first Christmas in the hospital with liver failure as a result of the disease. Neither of her parents knew then what was happening to their daughter. Neither did her pediatrician at the time, who claimed it was just her taking longer than most kids to get over a simple stomach bug.

After she lost 2.5 pounds in 12 days, Jayne took here to the emergency room and was told Catalina could have died if they waited much longer. The family found a new doctor. Because of Catalina’s good days, some doctors did not believe anything was seriously wrong with her.

“Some of the worst parts have been doctors not believing us,” Dan, 37 said.

That soon changed.

Complications like bleeding issues and recurring high fevers had Catalina in the hospital every two weeks, and no matter where the parents took their infant daughter, they weren’t able to get a diagnosis.

Further testing revealed she was suffering from Familial Mediterranean Fever (FMF) a genetic disorder that causes recurrent episodes of fever that are typically accompanied by pain in the abdomen, chest, or joints.

Parental balancing act

Jayne and Dan now have to grapple with the decision of a bone marrow transplant. They were presented with the idea of the procedure on a trip to a children’s hospital in Philadelphia.

“It’s this balance of how sick is she versus stable enough to go through something like that,” Jayne said.

The doctor told the family this past April, “We’re not telling you to move to Philadelphia yet,” as it would be much easier to live close to the hospital for the recovery.

A doctor at Boston’s Children’s Hospital told the family they should plan to have the procedure done this coming spring, as continuing to live with the disease could lead to organ damage, which would further complicate a transplant down the line.

A doctor from Cincinnati who has performed eight bone marrow transplants told the family that the next five years on medication would likely be the best in terms of quality of life. The medication has a slow decline in effectiveness, so once it began to show signs of wearing off, then the family could make the decision on a transplant.

Jayne and Dan have talked to families who have made the decision as they consult with doctors in Boston and Cincinnati. A mother of a 15-year-old boy lost her son eight months after the procedure and told the couple that her only regret was not doing it sooner, even though survival is “a flip of a coin.”

“It’s a hard choice,” Jayne said.

They spoke with people from Europe who had the two youngest patients to receive transplants. A 16-month-old will likely need a second transplant, but survived the first procedure. A two-year old survived, is thriving and “essentially cured.”

Through testing, the family found out Dan is a half match for the transplant, and so is Catalina’s 9-year-old brother, Jack. However, there are varying levels of matches and neither Dan nor Jack are ideal. Dan would be the better of the two.

No one else in the family is a match, so the search has extended globally.

The procedure would require Catalina to be in the hospital longer than most people, with the possibility of a severe complication. If Dan is a good match, he would stay in hospital while he and Catalina’s recover, and Jayne would stay with the other two kids. With chemotherapy treatments and the recovery timeline, Jayne would not be able to see her daughter for more than100 days in that scenario.

There’s a chance the family trades one problem for another, however, as transplants for this disease are not common. Catalina’s immune system is weak, and would be even weaker after the procedure ― so much so that her father said dust could kill her at that point. It would require the family to totally clean out their house and change their way of living. It could also fix her current problem while creating a new one if the transplant doesn’t take and the new cells attack the body.

“We could reach a cure, but it’s almost like at what cost?,” Jayne said.

The procedure would also add to the family’s long list of health expenses. Jayne said they paid $17,000 last year in medical expenses, which does not include the cost of wear and tear on the family cars, nor the cost to park. Jayne and Dan routinely drive Catalina to appointments at Yale New Haven Hospital. They said two visits in a weak would be considered “light.” They recently had to trade in their 2016 model cars for used 2019s with better mileage.

Financial and emotional stressors

It has not always been easy to get insurance to cover costs, and the family has often had to go to extreme lengths to prove the medications are necessary. Catalina takes nine medications daily and sometimes needs emergency medications. She’s also on an overnight feeding tube in her stomach of nutrients that help supplement what she doesn’t eat during the day.

Adding Catalina’s needs on top of caring for two other kids regularly leaves Jayne and Dan mentally exhausted. They said Catalina wakes up in pain often and most of the time doesn’t go to sleep till very late, which leaves the two of them with four or five hours of broken sleep.

The next day, they still need to figure out how to drop off the kids to school, get to work on time, get to New Haven, pick up the kids from school, and cook dinner. Jayne said they’ve spent an “ungodly” amount of money on eating out because they run out of time. They’re also managing sports practices and games for Jack and Juliana, who have to be taken to baseball and t-ball in the spring.

Jayne missed four months of work at one point before paid family medical leave existed. The lack of income added to the stress as Dan worked every weekend. The family has set up a GoFundMe for support.

“Stressful is probably scratching the surface of how hard this is for us,” Dan said, who noted some days are more emotional than others.

Dan knows that they only way to handle the situation is to keep moving forward, and said Jack knows when his parents need him to help out with extra chores. It’s not always easy on Juliana, Dan said, as “she wears her heart on her sleeve“ and sometimes looks for extra attention.

“If you can’t keep moving forward, it’ll break you,” he said.

The family has become advocates, not just for Catalina, but for CTLA-4 Haploinsufficiency awareness. They update a Facebook page with news about Catalina’s battle. They’ve also enrolled in a pediatric genomic discovery program at Yale that will allow doctors to study Catalina’s condition, develop a treatment and hopefully pave the way for others to be cured.

“Nobody expects to have a child with special needs, regardless of what those special needs are,” Jayne said.

k.arnold@theday.com