She was a single working mom, but her daughter needed almost constant care. Told there was no solution, she took matters into her own hands.
In 1983, Minnesota native Michele Manion had her first child, Meghan. “She was absolutely perfect,” remembers Manion. But at six months old, Meghan developed pneumonia for the first of what would be countless times. “I was a first-time parent, and I thought this happened to all babies,” says Manion. “ But my parents were very concerned — they’d raised four girls, and they could tell something wasn’t right.”
When Meghan’s symptoms didn’t let up, Manion consulted multiple doctors. None of them could give her a clear diagnosis for her daughter. “It was so frustrating, taking my child to the doctor and having them tell me this wasn’t a big deal,” she recalls. ”One major hospital even suggested that Meghan had repeated pneumonias because she wasn’t blowing her nose correctly. It felt so dismissive.”
Manion began to think that maybe there really was nothing wrong with Meghan. Maybe the perpetual pneumonia, the constant ear and sinus infections, and the loud unabating cough were just normal for some kids. Since none of the doctors she’d taken Meghan to took her seriously, Manion decided to stop taking her altogether. But Meghan kept getting sicker, and Manion’s distress mounted. Two years after Meghan was born, Manion had a second child, a son, who had none of Meghan’s symptoms. This confirmed for Manion how serious her oldest child’s condition really was.
Then just before her seventh birthday, Meghan came down with yet another case of pneumonia, and Manion had no choice but to take her daughter to the doctor. After another disappointing visit, Meghan laid down in the backseat of the car. She told her mother that it hurt too badly to breathe, and if no one could help her she thought she was going to die. “That was the final straw,” Manion says. “I marched her back into the doctor’s office and refused to leave until they took us seriously. I did not want the message to my daughter to be, ‘Your pain and fear are not important and no one will listen to you.’”
That was the beginning of a focused effort to find the underlying problem. Finally, after seven years and countless hospital trips, Manion got a diagnosis for her daughter: Meghan had primary ciliary dyskinesia, or PCD, a rare disease beginning in infancy that results in progressive damage to the lungs. Margaret Leigh, MD, a pediatrician specializing in PCD, explains: “For most of us, tiny hair-like projections called cilia help move debris out of our lungs. In patients with PCD, those cilia don’t work. Mucus sits in the airways, breeding infection and clogging the airways.”
We had no idea what her life expectancy was. I wondered, Is she ever going to finish school? Will she get married? Will she have her own life?
There’s a reason why Manion had trouble getting a straight answer about her daughter’s condition: PCD can be difficult to diagnose. “When Meghan was born, the vast majority of doctors did not know anything about PCD,” says Dr. Leigh. “At the time, one of the only clues was when a child’s organs were reversed so the heart is on the opposite side of the chest,” she explains. This happens in about 50 percent of PCD patients, but this wasn’t the case for Meghan. While PCD is a serious and potentially fatal disease requiring regular interventions, it has symptoms in common with many other diseases — including the common cold. Many children are incorrectly diagnosed with either cystic fibrosis, chronic pneumonia or severe asthma, and in some cases, their symptoms are ignored entirely.
Even after Meghan’s diagnosis, Manion was left without many answers. “The first questions I asked were, What happens now? What treatments are there? What’s the cure?” There was very little information about the disease, and Manion was told the only course of action was to use borrowed treatments from other disease areas to ease Meghan’s symptoms and slow decline as best they could. This meant the aggressive use of antibiotics for infections, and airway clearance several times a day. Meghan would need to use a machine that would help clear out her lungs and required “pounding percussion,” when a caregiver repeatedly claps a person’s chest to dislodge and move mucus. Administering these treatments would take Manion up to four hours a day. Between working and raising two kids on her own, the experience took a huge toll on Manion.
Thinking about Meghan’s life and future weighed heavily on Manion. “We had no idea what her life expectancy was,” Manion recalls. “I wondered, Is she ever going to finish school? Will she get married? Will she have her own life?” There was no internet at the time to turn to for answers, no support groups where patients could share knowledge or experiences. So Manion decided to make the most of every day she had with her daughter. “Meghan loves horses, so we got her horse-riding lessons. My parents worried about Meghan hanging out in barns with her bad lungs, but I didn’t want her to feel like a sick kid. I just wanted her to feel like a kid.”
“Meghan has always had a very strong personality,” Manion continues. “So being sick and having to miss school was heartbreaking for her. She had so many friends and was social, and I knew she hated being stuck in the hospital.” But as Meghan grew older, Manion began to realize how resilient her daughter was: “She’s always been driven and determined to have her own life regardless of her PCD. She wasn’t going to let anything stop her.”
I remembered how I’d been told there’d probably never be research on PCD because it was so rare, and that really rubbed me the wrong way. Didn’t my daughter’s life matter, too?
PCD is a progressive disease, and for most patients, symptoms worsen with age, with some experiencing respiratory failure and requiring a lung transplant. Thankfully, with regular treatment, Meghan was able to maintain her lung function as she entered high school.
Manion was proud of how far her daughter had come, but she was shocked by how little support she’d gotten from the medical community. As a working single mother of two, one of them dealing with an extreme illness, she would have given anything to have the support of a community of other parents and patients working with her to understand and better treat PCD. “I remembered how I’d been told there’d probably never be research on PCD because it was so rare, and that really rubbed me the wrong way. Didn’t my daughter’s life matter, too?” she says. “I was working for a medical device company at the time, and at trade shows, I saw every disease represented, except my daughter’s.” In 2002, Manion decided to take matters into her own hands. Along with Lynn Ehrne, another PCD patient, she co-founded the PCD Foundation.
That same year, Manion met the medical advocate she’d been searching for since her daughter was first diagnosed: Dr. Leigh. Dr. Leigh recalls how impressed she was by Manion: “We met at a research conference on mucociliary clearance. She had no medical training, but she’d clearly done as much reading as any of the researchers. I think that’s common among parents of kids with rare diseases: unfortunately, they feel the need to learn everything because there’s nobody to do it for them.”
Under Manion’s leadership and with the support of experts like Dr. Leigh, the PCDF is bringing this rare disease into the public consciousness. They’ve fostered a tight-knit community of caregivers and patients, developed a clinical registry collecting patient data about the disorder, and expanded the initial network of clinical centers to include now 40 Clinician and Research Centers nationwide, that together are working to improve diagnosis, better understand the disease, and support the development of PCD-specific treatments. While there was only one known gene that caused PCD when Meghan was diagnosed, today there are more than 50. With patient information collected in the PCD Foundation Registry, researchers are beginning to understand the spectrum of disease presentation in the different forms of PCD.
As a non-profit, the PCDF is funded by grants and donations. That’s what prompted them to apply for funding under the Chan Zuckerberg Initiative Rare As One Project – an initiative that supports patient-led organizations working to improve the lives of people affected by rare disease with funding, capacity-building support, and a network of other rare disease leaders driving progress – enabling organizations to learn from and support one another.
With the grant, the PCDF has been able to expand its work to connect patients and researchers across the globe and work towards the development of cutting-edge treatments. “Since we’re moving into gene-based therapies, it’s critical to find enough patients to perform clinical trials and understand as much as we can about the disease,” explains Dr. Leigh. “The CZI grant has allowed us to partner with groups around the world to share data.” Just last month, the foundation organized a conference on PCD, where 11 countries were represented. The foundation has also been working with physicians in Kenya and Mexico, using some of the CZI grant money to help support research and diagnosis in these areas.
Today, Meghan is herself a dedicated and happy mom to a healthy four-year-old, although she still struggles daily with PCD. There’s still a long way to go before doctors are fully able to understand and properly treat the disease, but the PCDF is determined to keep pushing until they find a cure. Manion dreams of a future where mothers like her will be given an immediate diagnosis and offered evidence-based treatment: “I want to make sure that someday, parents dealing with PCD won’t have to worry so much about their child’s future,” she says. “They’ll know that everything is going to be OK.”
