Brooke Ramirez’s pregnancy with her first daughter went as planned, and her new baby Trinity passed her developmental milestones. It wasn’t until she was five months old that they noticed any symptoms. Brooke explained:
“She started getting hematomas everywhere. When we picked her up, anywhere you would touch her she would just start bruising.”
They were sent down a path many rare disease patients know as they visited a slew of doctors in search of answers. They first went to get labs in their local ER in Annapolis, Maryland, and eventually wound up doing an intraosseous infusion during which a hole was drilled through her infant’s shin. Then she was transferred to Johns Hopkins to be seen by some of the world’s top specialists.
“That’s where it all began. They started running blood work, scans, everything to find what was wrong.”
They spent three weeks in the hospital to stabilize her, but the doctors didn’t find answers, so they were discharged. It was weeks later that they received the call. They had found her disease: PFIC.
Progressive Familial Intrahepatic Cholestasis (PFIC)
Progressive familial intrahepatic cholestasis (PFIC) is the umbrella term for a group of liver conditions that are caused by mutations that impact the biliary epithelial transporters, cells which regulate and transport bile from the liver. It usually presents itself in infancy, with early symptoms including intense itching, cholestasis (bile build up in the liver), jaundice, fatigue, and stunted growth. Other symptoms include the inability to break down fats and vitamins, vision issues, fragile bones, and balance issues. It is progressive, eventually causing cirrhosis, gallstones, and liver cancer. Patients usually experience liver failure before reaching adulthood.
Brooke explained getting the call:
“I remember her doctor saying ‘what ever you do, don’t get off the phone and google it.’ I was a young mom and I think his initial thought was if I googled it I was going to panic. It basically says cancer without a transplant and a lot of patients had died. From there it was just kind of up and down.”
Getting a diagnosis gave the family insight into what was causing her problems. Her bile pump wasn’t working properly, causing her to itch internally, a characteristic symptom of the disease. Unlike an itch on the skin, scratching it won’t kick it. This can be excruciating for patients, unable to sleep or function normally because their bile is toxic to their own body. They got her two diversion surgeries, which Brooke said, “basically made things worse.” That was when Brooke’s sister came forward and volunteered to be the live donor. They made sure they were a match, and in May 2013, Trinity got a liver transplant.
Recovering from the Transplant
“That’s when our roller coaster began,” Brooke explained. “Once you get a transplant, the itching is done. But you essentially trade one problem for another.” She said her quality of life took a 180 turn. Though she was still on meds and under medical supervision because she became immunocompromised, Brooke said it was like a rebirth to see her daughter so happy, gifted with a more free life.
She said, “I never got to experience her like a ‘normal kid’, so that was her reborn moment. She could enjoy things we couldn’t before because she would itch constantly and bleed. We could go for walks, she could just get to be a kid and do kid things.”
Still, her medical regime was more demanding than a typical 8 year old. They have to be extra careful because getting sick for her can be extremely serious, since her immune system is not functioning properly. She said,
“Anything could potentially land us in the hospital. Something as simple as an ear infection that causes her temperature to go up. We are frequent flyers at the hospital.”
After the transplant, the family learned to be extra sensitive to the germs that come with social life. They wipe down every surface, and take extra caution whenever visiting hospitals or setting with a lot of people. Brooke said, “Besides going out front, out on a bike or on a family walk, we just don’t take her out much.”
She can still go to school and have playdates though, which Brooke notes makes her lucky, as many transplant kids can’t. This is in part thanks to the generosity of her aunt’s donation. Brooke said, “It all functions just a little better because it is my sister’s organ rather than a stranger’s, so her body recognizes it more.”
The whole family has to follow these precautions since if anyone gets sick, it tends to travel through the household. To protect Trinity, Brooke, her husband, and their two toddlers, they have to limit their outings with friends and family and keep their circles small. There is no wiggle room when getting a bug can put Trinity in the ER. Brooke explained that the heightened precautions to avoid COVID-19 germs was already their world:
“The way that everyone is acting now- with wiping things down and keeping face masks on hand. Unfortunately, that’s sort of how we normally run our lives.”
Coronavirus and Immunosuppression
While coronavirus has popularized their cleaning regime, the family has had to go one step further since Trinity is more at risk. Brooke said it’s really time consuming, but it’s what they have to do to be safe and feel comfortable.
“She can’t go out and she’s pretty much going stir crazy. She’s eight but you would think she’s a 16 year old. She’s really a social butterfly. She loves to go to the mall and grocery shopping, figure out what she wants to eat, and carry grocery bags.”
Now though, she’s pretty much locked in the house. “It’s really put a limit on pretty much everything,” Brooke said.
While it’s been hard for her to be stuck on her ipad for schooling and she misses her friends, Brooke said, “Honestly though, this is kind of transplant life.”
“I feel weird [with corona]…I’m kinda used to everyone freaking out. It feels the same.” – Trinity
Instead they did their first ever televisits with her GI and liver doctor. While they went for a couple labs in the early days of the pandemic, they’ve stopped now, figuring it would be riskier for her to go in than not. When corona first was becoming known, she spiked a fever. They had to decide whether to follow their doctor’s advice and go straight to Hopkins, risking exposure. Instead, they visited her pediatrician through a ‘car visit.’
“Her pediatrician is amazing, so they came out to the car so she didn’t have to go in and risk extra germs.” – Brooke
For Brooke, she said when she was dealt these cards, she didn’t really know how she’d handle it. “I definitely feel like I’ve been on auto-pilot since she was born. For 8 years I just did what you have to do. You either do it or you don’t. When it’s your child, you find a way to just deal with it.”
She found strength in her families support, prayer, and hoping for miracles. She said, “You couldn’t pay me enough money to guess that my sister would offer to give my daughter a piece of her liver and I’m extremely thankful.”
She hopes this virus will help people become conscious that this can be everyday life. She said, “Right now this is a big deal for everybody but when this stops for everyone, this is still our lives.”
“When your kids are sick, keep them home. I know there’s situations when you can’t miss a day of work or you don’t have someone to babysit. I’ve been there. But try to remember everyone’s safety.”
For more information about PFIC, please visit PFICvoices.com