Patients: Faster Diagnosis, Earlier Treatment, Better Education Needed
Adults with late-onset Pompe disease in the U.K reported a long and distressing diagnostic process, with most patients calling in interviews for a reduced time to diagnosis, a shorter wait for a specialist appointment, and an earlier treatment start, a study found.
At diagnosis — which often came only after misdiagnosis — patients requested better support, and suggested that general practitioners need further education on Pompe.
“There remain multiple unmet needs throughout the disease journey for people living with [late-onset Pompe disease],” the researchers wrote.
The study, “Living with late-onset Pompe disease in the UK: interim results characterising the patient journey and burden on physical, emotional and social quality of life,” was presented at this year’s virtual congress of the World Muscle Society by Allan Muir, chair of the board of trustees of the Pompe Support Network in the U.K. Muir became involved with Pompe in 1991, after his son, Jamie, was diagnosed with the disease.
The 26th International Annual Congress of the World Muscle Society is being held online, on British Summer Time (BST), from Sept. 20–24.
Late-onset Pompe disease is characterized by progressive muscular weakness, particularly in the legs, trunk, and respiratory system, with symptoms emerging during childhood to adulthood.
As the condition advances, many patients will need a wheelchair and/or respiratory support, which affects the ability to engage in daily activities and significantly deteriorates quality of life.
However, few studies have explored an individual’s experiences from the onset of symptoms, to receiving a diagnosis, to living with the glycogen storage disease.
Muir, with researchers at Amicus Therapeutics, a company developing potential treatments for Pompe, conducted an interview-based study involving adults with late-onset disease to assess their experiences and emotions during the diagnostic process. The team also examined how the condition impacted patients’ daily activities and quality of life. Amicus supported the study.
The interview-based study included 27 participants (52% women), with a mean age of 56. The participants’ mean age at diagnosis was 43, and the mean time since diagnosis was 13 years. The most frequently mentioned symptoms were walking difficulties (100%), fatigue (96.3%), balance issues (81.5%), and breathing problems (70.4%).
Before diagnosis, anxiety was the primary emotion experienced, with one patient saying, “This isn’t right.” Another participant reflected, “I noticed that stairs would become difficult. If everybody went to a hotel, I prayed being shown to a room by a porter who took the [suit]case, because otherwise, it would take me a long time to get up.” Early undetected symptoms included falls, back pain, fatigue, and poor performance in physical activities.
“It is only post-diagnosis that many people realise that they have been symptomatic, often mildly, from a young age,” the researchers wrote.
The diagnostic testing process was accompanied by anxiety, depression, desperation, and frustration, particularly with misdiagnoses. “I had to wait 5 years [for diagnosis], by which time I’d gone into a wheelchair. I mean, if I’d been diagnosed in a year…” said one patient.
The first noticeable symptoms included a decline in physical capabilities, often noticed by others. Additional symptoms reported were changes in walking ability, difficulty climbing stairs, inability to stand easily, falls, breathlessness, and sleep apnea — repeated stops and starts of breathing. A few experienced breathing problems before muscular symptoms.
Symptom onset was accompanied by numerous visits to a general practitioner. At least one patient was told to exercise and recommended physiotherapy. Following office visits were assessments with specialists in cardiology, respiratory, neurology, rheumatology, and hepatology (liver). One-third of patients (33%) were misdiagnosed on one or more occasions, and some were prescribed incorrect treatments.
A correct diagnosis was often made after multiple tests and muscle biopsies, some taking up to 10 years. Delays in seeing a Pompe specialist created impediments in getting treatment and occurred with noticeable disease progression.
Factors that influenced diagnosis included a patient’s age and the order of noticeable symptoms, the time it had taken to get to a diagnosis, early visits to healthcare providers, and the availability of therapies at the point at which the disease was identified.
A Pompe diagnosis triggered various emotions such as anger, denial, depression, fear, gratitude, guilt, and relief. “This isn’t real,” answered one participant when asked for any thoughts at diagnosis. Another said, “To be fair, in the beginning, it was a relief, because I thought I had cancer; my husband had thought I had motor neurone disease.”
Initiation of treatment was met with gratitude and an uplift in mood, with some saying, “This is better.” Participants said the symptoms most important to treat were walking difficulties (55.6%), fatigue (37%), breathing problems (37%), balance issues (22.2%), continence issues (22.2%), and muscle pain (18.5%).
“Once I got onto [treatment], I felt better – like something was being done,” one participant remarked.
Living with Pompe was described as acceptance and adaption over time, along with emotions such as anger, guilt, and loss. “We treated it like losing something, like losing a friend. And going through the mourning process of all the … anger and resentment, and then the acceptance and the moving forward,” said one participant. “This is hard for me to deal with,” another succinctly said.
As their condition worsened, most patients reported impacts on lifestyle, daily activity, social life, and holidays. The disease affected the individuals’ ability to continue working and led to an increased dependency on others, such as family members and caregivers. Participants also reported that the condition affected their family relationships. Disruptive life events, such as accidents or bereavements, added to the emotional and physical burden.
When asked about the impact of the disease, on a scale from 0 to 10 — with 0 reflecting no impact and 10 severe impact — the mean score was 8.5. Factors associated with a greater perceived impact included younger age, being physically active before the diagnosis, and any financial hardship. Lesser perceived impacts were older age, continued working and previous hobbies, and no financial problems.
Finally, participants were asked about the impact of the COVID-19 pandemic. Reported emotions were anxiety, fear, and loneliness. “This has made things worse,” reported one participant. Another said, “If I got COVID, there was that element because my breathing is so affected… It was a genuine fear.”
For most, the pandemic has been a time of increased anxiety and low mood, as well as physical deterioration. This mainly has been due to being vulnerable to lung diseases and to the participants’ fears of being infected. Difficulties included isolation and reduced contact with family and friends, less available in-home care, a temporary loss of therapy, reduced contact with healthcare providers, and fewer assessments such as lung function tests.
“While every participant’s experience was different, this study identified an archetypal emotional journey,” the investigators wrote. “The diagnostic process was generally long and distressing, with most participants emphasising their desire to reduce the length of time to receiving a diagnosis, being referred to a specialist HCP [healthcare professional], and starting treatment.”
“Participants requested access to additional support at the point of diagnosis, and recommended educating general practitioners on Pompe disease,” they added.
The study’s findings shed new light on the real-world experiences of patients with late-onset Pompe disease, according to researchers.
“To date, few studies have investigated individuals’ experiences and emotions associated with the trajectory from noticing early symptoms to receiving a diagnosis of [late-onset Pompe disease] and living with the disease,” the researchers said.