Mom shares daughter’s story of life with rare liver disease
Before her second birthday, an Annapolis girl went through two surgeries and a liver transplant, a medical journey that began when her mother noticed bruises across her stomach.
Trinity Ramirez, who is now7, sat beside her grandmother lastweek and held tight to her iPad with a nervous smile.
Sitting in a circle in her living room, Trinity’s family explained the journey of having a young child diagnosed with a rare liver disease called progressive familial intraheptic cholestasis (PFIC).
Her mother, Brooke Ramirez, recalled the day she noticed something might be wrong. All seemed normal until she changed Trinity’s diaper and saw bruises that got darker and bigger a day later.
When her pediatrician told her to go to a hospital, Ramirez became concerned.
“That’s when the panic set in because you never want to hear that something is wrong with your kid,” Ramirez said.
At 8 months old, Trinity Ramirez was diagnosed with PFIC, Type 2. The disease, affecting at least one in every 50,000 to 100,000people around theworld, is due to a genetic mutation where the liver cells cannot discharge bile, according to National Institute of Health (NIH).
Instead, the bile accumulates in the liver. In general, children with the disease must
receive a liver transplant before age 10.
“Often it is something that presents with birth and you know something is wrong,” Dr. Saul Karpen said.
Karpen, the Division Chief for Pediatric Gastroenterology, Hepatology and Nutrition based at the Emory University School of Medicine, has a focus in understanding liver disease for children and infants.
“Parents have a really good sense that something just isn’t right here. The signs of liver disease can be obvious, like someone has jaundice. But other times it is much more subtle,” he said.
The path to transplant
Brooke Ramirez’s daughter faced numerous doctor’s appointments, Johns Hopkins hospital visits and over 10 doses of medication per day.
After the doctors finally diagnosed Trinity with PFIC, one of the symptoms began to show— the itching.
“When she came home, Trin started itching and Brooke was the only one who could soothe her,” said Mary Harrison, Brooke Ramirez’s mother.
Trinity showed signs of pruritus, severe itching, because the bilewould go through her bloodstream and cause an itching sensation that forced her to scratch.
“She itched internally so shewould itch until she bled everywhere,” explained Brooke Ramirez.
The intense scratching forced Brooke to cover her daughter with onesies and socks for her hands.
But the clothing then caused Trinity to get too warm and the heat would cause her to itch even more.
“So what we had to do was move downstairs to the basement,” Ramirez said. “I remember pacing back and forth on the basement floor and holding her with the fan on.”
For Ramirez, this became her routine from going to work as a bank teller to heading home to the basement in the attempts to soothe her daughter with the fan running. During the day, Harrison would take care of her.
Beyond fans and medication, Ramirez found other remedies via a Facebook group that focused on rare diseases.
“I had come upon a Facebook page that had other families with the same diagnosis, and we would bounce ideas off each other,” she explained.
By the summer of 2012, Ramirez consulted with the team of doctors at Hopkins to perform Trinity’s first surgery — planned 16 days before she turned 1.
“It was a big deal because she was my first born and I didn’t know anything about surgeries or hospital life,” Ramirez said. In August 2012, Trinity had an internal biliary diversion procedure to help drain the bile within the body.
The doctors informed Ramirez there might be signs of itching after the procedure until the rest of the bile exits the body. But within a couple weeks, she noticed Trinity had scratched even more.
Later that year, Trinity had her second surgery but the results were still the same.
“At that point I said nope we are transplanting— I did not want to hear any other options or medications. She was on somany medications that ins ome pictures she looked doped up,” Ramirez said.
A life-changing gift
Ramirez talked to her older sister, Brittany Metzger, about a possible transplant while the two walked around the neighborhood with Trinity in a stroller.
Metzger, a nurse at Anne Arundel Medical Center, offered to be a donor in a half joking but half serious manner, she said.
“If someone can fix her — I’ll fix her,” Metzger said.
For the next sixmonths, Metzger went through multiple testings for physical and mental exams, MRIs, CT scans and a biopsy in order to make the tough decision on donating her liver to her niece.
Nearly a year later from Trinity’s first surgery, the family had a scheduled date for the transplant: May 7, 2013.
The morning of the surgery, Metzger and her husband scribbled a message across her stomach in Sharpie for the surgeons going into the nine-hour surgery.
“Knowledge. Dedication. Success. Go Dr. Dagher. Go Team.”
“I thought it would be cool for them to un-robe me and read this really motivating message,” Metzger said. Despite the long surgery and longer recovery, she felt motivated for Trinity who was still suffering, she said.
After the surgery, both Metzger and Trinity had difficult recoveries. Trinity’s abdominal wall had opened and Metzger had bile leaking into her abdomen.
It took Trinity six months to recover and Metzger had a year long recovery until she felt back to normal forwork.
With the new liver, Trinity began to take immune suppressants to reduce the chances of her body rejecting the organ. As a result, her body is more sensitive to health problems like a common cold.
Finding community
Ramirez created a Facebook page for Trinity as a space to talk openly about her daughter’s diagnosis and what her life is like before and after the liver transplant.
“I thought the best thing to do was make a Facebook page so when she is older she can follow it and read it,” Ramirez said.
The page, liked by over 200 people, posts about Trinity’s journey from moments of her dancingwith her step-father to posts about hospital visitsdue to the flu.
The use of Facebook has helped other mothers like the president of PFIC Advocacy and Resource Network, Emily Ventura.
Ventura, from Kentucky, has a daughter diagnosed with PFIC and she discovered shared experiences on medical blog sites and social media platforms.
“It is amazing tome how much support I found on Facebook,” Ventura said.
“It is the only way we were connected to others for awhile and it was really powerful in what we were going through.”
Ramirez not only found community on Facebook, but also her best friend whose daughter was diagnosed with PFIC Type 1.
Throughout her early childhood, Trinity frequently visited hospitals and could only associate with pain, according to Ramirez.
Her family, has expanded to include her step-father, a dog and two little brothers. Trinity takes care of others like her brothers. Her family jokingly calls her “mom number two.”
“She is going to be a nurse or a doctor,” Metzger said. “She is taking care of people.”
The family is planning to celebrate the upcoming liver transplant anniversary, which they call “liverersary.”