The Fight for *Cure*Treatment*Lifesaving*Answers-4

Our names are Dan and Jayne Atizol. We are the parents of 3 absolutely beautiful children. Jack, Juliana and Catalina. 

Catalina, who is only 3 years old, has spent more time in the hospital (about 5 inpatient stays for life-threatening illness/inflammation) Hundreds of hospital visits and blood draws, scans, and various treatments. We travel between 100-300 miles a week for appointments or treatment and have even traveled across the country to the Mayo Clinic looking for help. Catalina's immune system does not work properly and for unknown reasons will attack various organs including the brain, lungs, bone marrow, and liver. She has been such a "mystery" for so long, that some doctors have told us they are not sure they will ever have an answer and we just need to stay on our toes to make sure she gets medical treatment as soon as possible if she starts to degrade. Thankfully, we still have some doctors that are fighting constantly for answers and even helped us get into a research study for rare and undiagnosed children called The Pediatric Genomics Discovery Program. If they can identify a genetic cause, they will run as many tests as they can to understand and hopefully develop a treatment plan and eventually a cure. These things take time and it has been a slow process to get here. 

We had to pull Catalina from the daycare she had known for almost 2 years and place her in one that only has about 5 children total. Limiting her contact with other kids to hopefully decrease the amount of viral and bacterial infections, which have almost killed her multiple times. 

Juliana, who is 5, is mildly affected compared to Catalina. She has had her fair share of bacterial and viral infections, and was inpatient once in the pediatric ICU, but has not had the same ongoing life-threatening issues that Catalina has had to fight. She still needs to see the same specialists and have regular blood draws to monitor disease progression. 

Mom, who is the primary caretaker when it comes to the doctors and staying in the hospital when Catalina is hospitalized, also has to see the same specialists and have the disease monitored as it carries a risk of lymphoma and leukemia as well as various autoimmune disease. All 3 girls in the family are affected to various degrees. All of them need monitoring and treatment, while still trying to maintain some type of normal life. 

No one plans for something like this to impact your family. The time and cost of traveling to Yale, or out of state multiple times a week, as well as the over the counter costs, dietary supplements, medical supplies, and overwhelming lost time from work, on top of the normal cost of living as a family of 5 has severely impacted our family emotionally and financially. At least 50% of our time is dedicated to communications with doctors and scientists from multiple states and hospitals, as well as traveling for treatment and appointments.

Below, you will find a description of what CTLA-4 is, and some of the struggles we have gone through. 

CTLA-4 stands for Cytotoxic T-Lymphocyte Antigen-4. This is a protein made by the body that acts as a braking system for the immune system. If there is a deficiency or dysfunction of this protein, then there is a loss of control over the activation of Tcells (an infection fighting cell). This can cause severe immune dysregulation that can lead to death if not treated because the Tcells attack healthy tissue and organs.

Juliana

- PICU stay for a lower respiratory virus at 2 weeks old

-Severe ear infections leading to hearing loss. Tubes placed twice. between 12m-3yrs.

-recurrent bacterial, viral, and fungal infections. (on-going)

- moderate GI issues.

-Recurrent mouth ulcers.

-Undiagnosed bleeding disorder.

Catalina

- Bloody Spit up at birth

-Feeding issues from birth, and still on-going. 

-recurrent severe viral infections (requiring NG-Tube and multiple hospital stays)

-pathogen infiltration of bone marrow (Viruses attack her bone marrow)

-Acute Pediatric Liver Failure 

-Undiagnosed bleeding disorder

-Swelling of the brain and Central Nervous System

-Severe GI issues requiring medical intervention

-Recurrent Mouth Ulcers

-Small Hemorrhages deep into her skin

-Severe life-threatening systemic inflammation.  (requiring injections to suppress her immune system)

We hope to share our story and help to bring awareness to rare disease. Any donations will go to ongoing medical expenses, travel expenses and if we go above our goal, we will donate to The Pediatric Genomics Discovery Program. The PGDP has worked very hard to provide us answers and research is still ongoing. We hope that better treatment or maybe a cure can come from the research they are doing. We were told that some of our care may need to transfer down to the Children's Hospital of Philadelphia, as they have some of the top immunologists and rare disease experts.

Thank you for reading! Updates to come!