Montville – In her good days, Catalina Atizol is an average three-year-old, running around the house and playing with her siblings.
Her bad days are drastically different as fevers, inflammation, bleeding problems and lack of appetite leave her bedridden. Often her symptoms require a visit to the hospital for IV drips and steroid treatments.
This is the reality of living with CTLA-4 haploinsufficiency, a genetic disorder of the immune system that can cause permanent organ damage, autoimmune disease, cancer, and serious infections.
The rare disease was discovered in 2014 with around 500 people diagnosed worldwide. For those who have been diagnosed with the disease, CTLA-4 proteins are present in their body, but are not functioning properly. Instead of counting 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 that Catalina and seven other family members have this genetic mutation, including her mother Jayne and Catalina’s 5-year-old sister Juliana. Everyone has a different level of severity. Juliana has a mild case which is being monitored, although Jayne’s mother died after suffering complications from the disease.
Difficult path to diagnosis
While waiting for test results, Catalina contracted respiratory syncytial virus, which is similar to a cold for most people, in September. Because of her condition, Catalina’s immune system is compromised and the virus nearly killed her, her parents said. Both of her lungs collapsed and she had to eat through a nasogastric tube. She was vomiting blood and had a fever close to 105 degrees.
Catalina’s rheumatologist figured out what was going on. He gave Catalina an injection that had worked with a previous patient, and within eight hours “she was a different little girl running around the hospital room,” her parents said.
When the genetic test results came in in January, the family was told they were the first family to suffer from this specific variant of the disease. The diagnosis has opened up treatment options for the family, even though the more effective drug is not approved by the FDA and required the involvement of the US representative. Joe Courtney, D-2nd District to be acquired.
Jayne has weekly injections with Catalina, which her husband Dan administers. Each of them also needs monthly injections. Juliana does not need treatment yet.
“He saved her life by taking this drug,” said Jayne, 28, of Catalina.
In 2019, Catalina spent her first Christmas in the hospital with liver failure due to the disease. None of her parents then knew what was happening to their daughter. Not even her pediatrician at the time, who claimed it was just her taking longer than most kids to get over a simple stomach ache.
After losing 2.5 pounds in 12 days, Jayne was rushed here to the ER and told Catalina could have died if they waited much longer. The family has found a new doctor. Due to Catalina’s good days, some doctors didn’t believe there was anything seriously wrong with her.
“Some of the worst parts have been the doctors not believing it,” said Dan, 37.
This soon changed.
Complications like bleeding problems and recurring high fevers took Catalina to the hospital every two weeks, and no matter where the parents took their little girl, they were unable to get a diagnosis.
Further tests revealed that he suffered from familial Mediterranean fever (FMF), a genetic disorder that causes recurring episodes of fever that are typically accompanied by pain in the abdomen, chest or joints.
Parental balancing act
Jayne and Dan now face the decision of a bone marrow transplant. The idea for the procedure was presented to them during a trip to a children’s hospital in Philadelphia.
“It’s this balance of how sick she is and stable enough to go through something like this,” Jayne said.
The doctor told the family last April, “We’re not telling you to move to Philadelphia just yet,” as it would be much easier to live near the hospital for recovery.
A doctor at Boston’s Children’s Hospital told the family they should plan to have the procedure done next spring, as continuing to live with the disease could lead to organ damage, which would further complicate a transplant in the future.
A Cincinnati doctor who has performed eight bone marrow transplants told the family that the next five years of medication would likely be the best in terms of quality of life. The drug has a slow decline in effectiveness, so once it starts showing signs of wearing itself out, the family could make the decision to have a transplant.
Jayne and Dan spoke to the families making 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 her only regret was not having it done sooner, even though survival is “a flip of a coin”.
“It’s a tough choice,” Jayne said.
They spoke to people from Europe who had the two youngest patients to receive the transplant. A 16-month-old will likely need a second transplant, but survived the first procedure. A two-year-old boy survived, thriving and “basically recovered”.
Through testing, the family has discovered that Dan is suitable for the transplant, as is Catalina’s 9-year-old brother Jack. However, there are different levels of matches and neither Dan nor Jack are ideal. Then he would be the better of the two.
No one else in the family matches, so the search went global.
The procedure would require Catalina to stay in the hospital longer than most people, with the possibility of a serious complication. If Dan is a good match, he would stay in the hospital while he and Catalina recover, and Jayne would stay with the other two kids. With the chemotherapy treatments and the recovery timeline, Jayne wouldn’t be able to see her child for more than 100 days in that scenario.
There is a possibility that the family mistakes one problem for another, however, as transplants for this disease are not common. Catalina’s immune system is weak and she would be even more so after the procedure, so much so that her father said her powder could kill her at that point. She would require the family to completely clean up their house and change their way of life. You may also solve your current problem by creating a new one if the transplant fails and the new cells attack your body.
“We might achieve 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 care costs. Jayne said she paid $17,000 last year in medical bills, which don’t include the cost of wear and tear on the family cars, nor the cost of parking. Jayne and Dan regularly accompany Catalina to appointments at Yale New Haven Hospital. They said two visits to a faint would be considered “light”. They recently had to trade in their 2016 model cars for used 2019’s with better mileage.
Financial and emotional stressors
It has not always been easy to obtain insurance to cover the costs and the family has often had to go to great lengths to prove that the drugs are needed. Catalina takes nine medications a day and sometimes needs emergency medication. She also has a night feeding tube in her stomach of nutrients that help supplement what she doesn’t eat during the day.
Adding Catalina’s needs to caring for two more children regularly leaves Jayne and Dan mentally exhausted. They said Catalina often wakes up in pain and most of the time she doesn’t go to sleep until late, which leaves the two of them with four or five hours of interrupted sleep.
The next day, they still have to figure out how to get the kids to school, get to work on time, get to New Haven, pick the kids up from school, and cook dinner. Jayne said they spent an “unholy” amount of money eating out because they ran out of time. They’re also handling sports practices and games for Jack and Juliana, who need 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 created a GoFundMe for support.
“Stress is probably just scratching the surface of how hard it is for us,” said Dan, who noted that some days are more emotional than others.
Dan knows the only way to handle the situation is to keep moving forward, and he said Jack knows when his parents need him to help out with the extra chores. It’s not always easy for Juliana, Dan said, as she “puts her heart on her sleeve” and sometimes seeks extra attention.
“If you can’t keep going, you’re going to break,” she said.
The family has become supporters, not only of Catalina, but also of CTLA-4 haploinsufficiency awareness. They update a Facebook page with news about the Battle of Catalina. They’ve also signed up for 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 the cure of others.
“No one expects to have a child with special needs, regardless of what those special needs are,” Jayne said.