When Eleanor was a baby, she had an itch, one that was so severe she couldn’t sleep, and no matter how many times she scratched it wouldn’t let up. Doctors told her mother, Claire Brinkley, a cuddle would only make the itching worse, leaving her helpless, she said.
“She learned to scratch herself until she bled, and pick at the wounds and gouge at them because nothing about gave her any relief. The itch was a bit like itching from the inside,” Brinkley said.
This was one of the many symptoms of liver disease, which Eleanor was later diagnosed. At the time Brinkley said she felt alone, since she had no family or friends who were going through the same experience, which would later escalate to a transplant for her daughter.
When Eleanor, who is now 11, was born, there was no apparent sign that she had a medical condition. It wasn’t until she had her immunizations at three months old and that her parents noticed heavy bruising.
The diagnosis: progressive familial intrahepatic cholestasis (PFIC), a rare genetic disease that impacts the liver. The condition is estimated to impact one in 50,000 to 100,000, according to the CDC.
Brinkley, who lives in the United Kingdom, was told by specialists that the condition was so rare that doctors at her local hospital wouldn’t be familiar with it. This fact shifted much of the responsibility onto Brinkley.
“I had a year where I was in a really dark place and a lot of that was because I felt so alone and so isolated,” Brinkley said.
After the diagnosis, she began searching online for answers but came up short.
“There were also no support groups for us. If you have a child with Down syndrome or a condition that is more common there are often local support groups for you. There would be a network available,” she said. “For us it didn’t feel like it was there. I was desperate to hear other people’s stories, to hear there might be a positive outcome.”
For some time, all she could find was negative stories online about the condition. This wasn’t helped by the fact that the older children with liver conditions she saw at the hospital were, by nature of being in an acute care setting, very ill.
Knowing that Eleanor would need a liver transplant, there were many unknowns and concerns about the future.
“That was so scary, and who wants to look at their beautiful little baby and know that this child is going to go through horrific suffering and there is nothing you can do about it?” she said.
But the social element took a turn for Brinkley when she was linked up with other families of children with liver conditions, first via in-person events through the Children’s Liver Foundation, and next in online forum PFIC Voices, as well as Facebook groups Liver Mums and U.K. Liver Parents and Families.
When Eleanor was six, she did have a transplant, and after some very uncertain times in the hospital, including organ failure, came out on the other side. Now, Brinkley said, it’s important to share her story with others who were in her position and searching for answers after a diagnosis.
“The support groups you have now and the advocacy [are] fantastic. I just would have given anything for that to have been available to me when Eleanor was a baby and toddler. It is great now, but I feel like we’ve been through the worst of it,” Brinkley said.
She said that online support groups have helped her form camaraderie with other parents caring for children with rare liver diseases. Specifically, she remembers being able to share day-to-day upsets. For example, when Eleanor was looking outwardly healthy, Brinkley said no one wanted to hear that she was actually ill, and, conversely, when Eleanor was ill, strangers would point it out to her on the street.
“Being able to be part of a group online and say this is rubbish – this is why I’ve had a horrific day – is [key]," she said. "What makes someone think that they are going to stop in the street and tell us ‘she is really ill, what’s wrong with her?’ And people [in the group] would get that. I got a lot of comfort and strength from people. We would joke and say the positive puns for today.”
Online patient forums are becoming more and more popular. Today there are a number of outlets where caregivers and patients can connect to discuss conditions and share stories.
“Peer help support is such an asset to patients, whether they are newly diagnosed, struggling with treatment-related side effects, [or] trying to find clinical trials – and now even more so in COVID-19,” Grace Cordovano, a patient advocate and CEO of Enlightening Results, told MobiHealthNews.
Even social media giant Facebook has shown more interest in the space. In 2019, Facebook Groups announced a “Health Support” tool that helps users find groups that fit their health needs and concerns.
Another big name in the space is PatientsLikeMe, a platform designed to connect patients with different conditions, both to social networks and to research. This platform was acquired by insurance company UnitedHealth Group in 2019, with mixed reactions from patients and advocates.
The coronavirus pandemic has changed the way people live, in particular, individuals with rare diseases. Brinkley remembers listening to the news about the COVID-19 outbreak in Italy and hearing that the country had switched to wartime triage measures for care. That would mean those with the best chance of positive outcomes would be prioritized. She was used to her daughter being treated first because of her condition, but quickly realized this may not always be the case.
Brinkley acknowledges that at the start of the pandemic there was a lot of panic in the social media groups. But things began to come into focus, and the members supported each other.
“We were desperate for information, so there were some ‘Liver Mums’ who would find the research and put that up. We were not getting information from the hospitals, and there was panic, and it wasn’t good. As time has gone by, we have been able to reassure each other.”
During the coronavirus pandemic, patient groups have also been used as a way to communicate during lockdown.
“I think what happened with peer health support is people make a connection and no longer feel alone, and now [they] see this valuable information that’s so helpful for them to navigate,” Cordovano said about the groups during the last few months. “You really do establish connections with these patients, and families, and advocates, and physicians, and nurses, and members of the care team who are reaching out and willing to have a conversation, willing to give you tips and point you in the right direction.”