HomeScienceGeneticsThe Montville family fights for a cure for toddler's rare genetic disease

The Montville family fights for a cure for toddler’s rare genetic disease

Dan Atizol holds his daughters Juliana, 5, and Catalina, 3, as they play at their home in Montville on Tuesday, November 22, 2022. Catalina has CTLA-4 Haploinsufficiency, a genetic immune system disease that can cause permanent organ damage, autoimmune disease, cancer, and serious infections. (Sarah Gordon/The Day) Buy photo reprints
Catalina Atizol, 3, talks to her mother Jayne at their home in Montville on Tuesday, November 22, 2022. Catalina has CTLA-4 Haploinsufficiency, a genetic immune system disease that can cause permanent organ damage, autoimmune disease, cancer and serious infections. (Sarah Gordon/The Day) Buy photo reprints
Siblings, from left, Jack, 9, Catalina, 3, and Juliana, 5, play Atizol with a sticky toy at their home in Montville Tuesday, November 22, 2022. Catalina has CTLA-4 Haploinsufficiency, a genetic disease of the immune system that causes can cause permanent organ damage, autoimmune diseases, cancer and serious infections. (Sarah Gordon/The Day) Buy photo reprints
Jayne Atizol hosts routine medications her daughter Catalina, 3, takes at their home in Montville on Tuesday, November 22, 2022. Catalina has CTLA-4 Haploinsufficiency, a genetic immune system disease that causes permanent organ damage, autoimmune disease, cancer, and severe infections. (Sarah Gordon/The Day) Buy photo reprints
Catalina Atizol, 3, and her brother Jack, 9, play a video game at their home in Montville on Tuesday, November 22, 2022. Catalina has CTLA-4 Haploinsufficiency, a genetic immune system disease that causes permanent organ damage, autoimmune disease, cancer, and severe infections. (Sarah Gordon/The Day) Buy photo reprints
Dan Atizol puts on a feeding tube as his daughter Catalina, 3, watches at their home in Montville on Tuesday, November 22, 2022. Catalina has CTLA-4 Haploinsufficiency, a genetic immune system disease that causes permanent organ damage, autoimmune disease, cancer, and severe infections. (Sarah Gordon/The Day) Buy photo reprints

Montville – On her good days, Catalina Atizol is an average three-year-old who runs around the house and plays games with her siblings.

Her bad days are drastically different, as fever, inflammation, bleeding problems 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 serious infections.

The rare disease was discovered in 2014 in about 500 people in the world. For those diagnosed with the disease, the CTLA-4 proteins are present in their bodies but do not function properly. Instead of telling the T cells, which are an important part of the immune system, to stop “attacking” any pathogen 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. Each has varying levels of severity. Juliana has a mild case that is being controlled, although Jayne’s mother has died after complications from the disease.

Must Read
Researchers reveal new genetic mutation cause of glaucoma in children

Rough path to diagnosis

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

Catalina’s rheumatologist figured out what was going on. He gave Catalina an injection that had worked on a previous patient, and within eight hours “she was another 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 particular variant of the disease. The diagnosis opened up treatment options for the family, although the most effective medication is not FDA approved and requires the involvement of US Representative Joe Courtney, D-2nd District to obtain.

Jayne receives weekly injections with Catalina, which her husband Dan administers. They also all require monthly injections. Juliana does not need any treatment yet.

“It saved her life using this drug,” Jayne, 28, said of Catalina.

In 2019, Catalina spent her first Christmas in the hospital with liver failure due to the disease. None of her parents knew then what happened to their daughter. Neither did her pediatrician at the time, who claimed it just took her longer than most kids to get over a simple stomach flu.

After losing 2.5 pounds in 12 days, Jayne went to the emergency room and was told Catalina could have died had they waited much longer. The family found a new doctor. Because of Catalina’s good days, some doctors didn’t believe there was anything seriously wrong with her.

“Some of the worst things were that doctors didn’t believe us,” said Dan, 37.

That soon changed.

Complications such as bleeding problems and recurrent high fevers left Catalina in the hospital every two weeks, and no matter where the parents took their baby girl, they couldn’t get a diagnosis.

Further investigation revealed that she suffered from Familial Mediterranean Fever (FMF), a genetic condition that causes recurrent bouts of fever usually accompanied by pain in the abdomen, chest or joints.

Parental balancing act

Jayne and Dan must now grapple with the decision of a bone marrow transplant. They got the idea of ​​the procedure during a trip to a children’s hospital in Philadelphia.

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

Must Read
Gladstone data scientist elected to the Natio

The doctor told the family last April, “We’re not telling you to move to Philadelphia just yet,” because 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 next spring, because living with the disease could lead to organ damage, which would further complicate a transplant later on.

A Cincinnati doctor who has performed eight bone marrow transplants told the family that the next five years of medication would probably be best in terms of quality of life. The effectiveness of the medication is slowly decreasing, so once it started to show signs of wear and tear, the family could make the decision about a transplant.

Jayne and Dan have spoken to families who made the decision during their consultations with doctors in Boston and Cincinnati. A mother of a 15-year-old boy lost her son eight months after the procedure, telling the couple she only regrets not doing it sooner, even though survival is “a token”.

“It’s a tough choice,” Jayne said.

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

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

No one else in the family is a match, so the search has expanded worldwide.

The procedure would require Catalina to be 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 chemotherapy treatments and the recovery timeline, Jayne wouldn’t be able to see her daughter for more than 100 days in that scenario.

However, there is a chance that the family may trade one problem for another, 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 the time. It would require the family to completely clean up their house and change their way of life. It could also solve her current problem while creating a new problem if the transplant fails and the new cells attack the body.

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

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

Must Read
Study shows differences between primate brains - humans, apes and apes

Financial and emotional stressors

It has not always been easy to get insurance to cover the costs, and the family has often had to go to great lengths to prove that the medicines are necessary. Catalina takes nine medications a day and sometimes needs rescue medication. She also sits on a feeding tube in her stomach at night with nutrients that help replenish what she doesn’t eat during the day.

Adding Catalina’s needs to the care of two other children regularly causes Jayne and Dan to become mentally exhausted. They said Catalina often wakes up in pain and usually doesn’t go to sleep until very late, giving them four or five hours of interrupted sleep between them.

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 up the kids from school, and cook. Jayne said they’ve spent an “ungodly” amount on eating out because they’ve run out of time. They also manage sports practices and games for Jack and Juliana, who have to go to baseball and t-ball in the spring.

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

“Stress is probably the surface of how hard this 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, saying that Jack knows when his parents need him to help with extra chores. It’s not always easy for Juliana, Dan said, “she wears her heart on her sleeve” and sometimes seeks extra attention.

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

The family has become an advocate not only for Catalina, but for awareness of CTLA-4 Haploinsufficiency. They update one Facebook page with news of Catalina’s struggle. 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 healing others.

“No one expects to have a special needs child, no matter what those special needs are,” Jayne said.

k.arnold@theday.com

RELATED ARTICLES

LEAVE A REPLY

Please enter your comment!
Please enter your name here

Most Popular

Recent Comments