The cystic fibrosis (CF) journey necessitates numerous partnerships, and while a medical partnership is one of the most constructive, family support systems hold immeasurable power. This post launches the series Family Friday, which spotlights support persons. We start with a conversation between Cystic Fibrosis News Today community manager Luisa Palazola and the Gaudenzi mother-daughter duo from Toronto, Canada — Melissa and 11-year-old Mia.
Mia’s CF story starts uncommonly “late,” as she was diagnosed at 4 years old. Born a chunky and otherwise healthy baby, there wasn’t much reason to pursue CF testing. However, after a series of recurrent pneumonias at 3 years old, mother Melissa began suspecting something was off with Mia.
Luisa: You say her doctors chalked up her frequent infections to being “unlucky”?
Melissa: Yeah. At the time, I didn’t know what CF really was. I mean you see the posters around; the things that say, “It’s like drowning on the inside.” But, I didn’t really know what CF was. When I looked into it, symptoms aligned with what was going on. I just remember when her grandma would kiss her, she would say, “Oh, Mia, you’re so salty.” And yeah, it kinda clicked: “What if?”
Luisa: Were you the only one coming to the realizations, or was someone guiding you?
Melissa: I came up with this after seeing tons of doctors … I mean, I can’t even tell you how many hospitals we’ve gone to. Actually, her [general practitioner] sat me down and said, “You are just like every other mom — you want best for your child — but I’m telling you to go home and just take it for what it is. Stop.”
Luisa: It’s really crazy hearing these stories because there are potentially undiagnosed people because doctors don’t want to explore the CF possibility. At what point did your team explore it?
Melissa: Mia was 4 years old, and I had had enough. I really needed to know what put this thought [of CF] in my head. So, I called the [local CF] clinic myself and was like, “Listen, my doctor doesn’t want to refer us. She thinks I’m nuts. Can you please take her?” And so without a referral or anything, the [CF doctor] said, “Can you come in Wednesday?”
Luisa: I am just so in awe of your perseverance in saying, “No, I need to get this checked out.”
Melissa: I mean, when we got to clinic, the doctor was already ready to hear me in tears, and to give the diagnosis. The nurse said to the doctor, “Don’t worry about it, she already knows.” I don’t know, [with that diagnosis], it was just so much easier to change our life and just add physio into it. Mia ended up being pancreatic sufficient.
Luisa: Now, I know Mia has a dual-diagnosis — scoliosis. Like a fused spine?
Melissa: Mia, do you want to tell the story?
Mia: In the middle of August, my mom and grandma saw, like, a curvature on my back and then we went to the doctor. The doctor said, “You have scoliosis.” In November I had a spinal fusion.
Melissa: Her curvature was made into an S instead of a C-shape. It started pushing on her lungs. Her orthopedic surgeon was like, “Wait a minute, she has CF? We gotta fix this now because it’s going to start pushing on her lungs and affect her lung functions.” So, they went in there and it was really quick. They just threw her on the operating table and did her spinal fusion. She stayed in the hospital for about five days. She did really well and came home. She still has scoliosis and she still has a curvature at the bottom of her back at the very lower part — he didn’t want to fuse that up right now because she’s still young. She has CF and needs to do exercise, so if he fused the whole thing, she wouldn’t be able to bend or do certain sports. So, he said, “Let’s just keep an eye on that part, and if, God forbid, it progresses, we’ll just go back in and fuse that part up.”
Luisa: You told me Mia was in kindergarten and she had so many missed days. At what point did she start homeschooling?
Melissa: She was going to transition over to grade one, and the school board sat me down and said, “You know … if she misses this many days, she may as well not even be here. I said, “OK, can she be homeschooled? And they said, well that’s up to you — that’s your prerogative. I said, “OK, let me try it one year, and see how well I do.” Mia did it, and everything went great. We’ve had more time for more appointments and more time for studies. And she’s liked it. She’s completely social; has her friends and goes out.
Luisa: Mia would you want to go back to school or stay home?
Mia: Stay home. I like homeschooling better.
On Disney World
As our conversation came to a close, Disney World came up in conversation, as it’s their favorite spot for vacation.
Luisa: Hey, Mia, who’s your favorite Disney Princess?
Luisa: OK, OK, what about your favorite park?
Mia: Uhh, Epcot. I just like walking around the world.
Note: Cystic Fibrosis News Today is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of Cystic Fibrosis News Today, or its parent company, BioNews Services, and are intended to spark discussion about issues pertaining to cystic fibrosis.