MPN Hero Advocates for Her Daughter Until The Right Diagnosis Is Made
For Natalie Catalano, caregiving for her daughter with essential thrombocythemia included not only being a rock of support, but also being a vocal advocate for her daughter’s care team to make the right diagnosis.
BY Natalie Catalano
PUBLISHED January 13, 2020
Natalie Catalano’s daughter, Carmen, was diagnosed with essential thrombocythemia (ET) with a JAK-2 mutation at age 17, but the years it took to get to that diagnosis were long and difficult, and Natalie had to care and advocate for her daughter every step of the way. Which is why Carmen nominated her mother for the MPN Heroes award this past year.
Natalie, a former nurse practitioner and a medical care worker, moved to Pittsburgh, Pennsylvania with her family to start a new job and be closer to her daughter’s care team. However, over the years her medical team had not discovered the root cause of Carmen’s symptoms, so it fell to Natalie to advocate for more testing until the ET diagnosis was made.
Natalie had the chance to sit down with CURE® at the MPN Heroes awards ceremony and discuss the day her daughter finally received the correct diagnosis, and the long journey they took to get there.
I'm calling down there and I'm like, Hey, I don't like what's going on here. I know she had a major surgery. I know there's a huge problem. We go back and forth, and her platelets are climbing. Well, you know, that's reactive because her spleen is out. There really skyrocketing. I take her back three times, the markers they're flying up. I call down there. I said, Hey, I appreciate and love you guys, but you missed something. We were supposed to go down on a Friday, on a Thursday I took Carmen to lunch.
This is the fall maybe I don't know. October, November, my whole last year is a blur. We're out to lunch. She's fine. She gets up. "I'm not feeling well." We get in the car. She's talking, and her whole face went slack and I yanked the car over I called 911. I said ‘Meet me in the driveway” and I pulled her out of the car.
I didn't know if she was coding. I pulled her out in case I had to do CPR on the side of the road. She gets on her knees opens her mouth, projectile vomiting. I get to my house. The ambulance is there. I'm like, hook her up I think she's coding. I don't know if she's having a heart attack or a stroke. Her heart rate was in the 50s, (so we go) back to children's (hospital). I said, you guys said you did a million-dollar workup you did everything. Whatever you didn't do we need to do that. A week later, she had a bone marrow biopsy.
They said it doesn't look like leukemia or lymphoma, you should know by Christmas. But they did tell me that her platelets were two and a half million, which they even agreed at that point was definitely not reacting from the spleen. So, we were in massive panic mode, and they called us probably days before Christmas. Last Christmas stunk because of this gloom that was hanging over the holiday season.
They essentially called us down there. So, we go down there. We're in this huge room. All these people come in. I'm sitting and I stand because I was like, totally intimidated— genetic doctors, counselors, all these people, and they said she has essential thrombocytopenia with a JAK-2 mutation. And, you know, I don't know, it just felt like we were like getting punched in the face. I couldn't believe it.