Faster diagnosis and treatment, more education needed
Adults with late-onset Pompe disease in the UK have reported a long and painful diagnostic process, with most patients calling for interviews for reduced diagnostic time, shorter wait for appointment with a specialist and an earlier start of treatment, according to a study.
At the time of diagnosis – which often only came after a misdiagnosis – patients asked for better support and suggested that GPs needed additional training on Pompe.
“There are still many unmet needs along 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: intermediate outcomes characterizing the patient journey and the burden on physical, emotional and social quality of lifeWas presented at this year’s World Muscle Society Virtual Congress by Allan Muir, Chairman of the Board of the Pompe Support Network in the UK. Muir became involved with Pompe in 1991, after his son, Jamie, was diagnosed with the disease.
The World Muscle Society’s 26th Annual International Congress will be held online, British Summer Time (BST), September 20-24.
Late-onset Pompe disease is characterized by progressive muscle weakness, particularly in the legs, trunk and respiratory system, with symptoms appearing from childhood to adulthood.
As the disease progresses, many patients will require a wheelchair and / or respiratory support, which affects the ability to engage in daily activities and dramatically deteriorates the quality of life.
However, few studies have explored an individual’s experiences from the onset of symptoms, to receipt of a diagnosis, to life with glycogen storage disease.
Muir, along with researchers from 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 process. diagnostic. The team also looked at the impact of the disease on daily activities and the quality of life of patients. Amicus supported the study.
The interview-based study included 27 participants (52% female), with an average age of 56. The average age of participants at diagnosis was 43 years and the average time since diagnosis was 13 years. The most frequently mentioned symptoms were difficulty walking (100%), fatigue (96.3%), balance problems (81.5%) and breathing problems (70.4%).
Prior to the diagnosis, anxiety was the main emotion felt, with one patient saying, “It’s not right. Another participant said: “I noticed that the stairs were getting difficult. If everyone went to the hotel, I would ask to be shown to a room by a doorman who took the [suit]case, because otherwise it would take me a long time to get up. The first undetected symptoms included falls, back pain, fatigue and poor performance in physical activities.
“It is only after diagnosis that many people realize that they have been symptomatic, often mildly, from a young age,” the researchers wrote.
The process of diagnostic testing was accompanied by anxiety, depression, hopelessness, and frustration, especially misdiagnosis. “I had to wait 5 years [for diagnosis], date I entered a wheelchair. I mean, if I had been diagnosed in a year… ”said one patient.
The first visible symptoms included a decline in physical ability, often noticed by others. Other symptoms reported were changes in the ability to walk, difficulty climbing stairs, inability to stand easily, falls, shortness of breath and sleep apnea – repeated stops and starts of breathing. A few experienced breathing problems before the muscle symptoms.
The onset of symptoms was accompanied by numerous visits to a general practitioner. At least one patient was asked for exercise and recommended physiotherapy. After the visits to the office, evaluations were carried out with specialists in cardiology, pneumology, 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 several tests and muscle biopsies, some of which could take up to 10 years. Delays in seeing a Pompe specialist created barriers to getting treatment and occurred with noticeable progression of the disease.
Factors that influenced the diagnosis included the patient’s age and the order of visible symptoms, the time it took to get a diagnosis, early visits to health care providers, and the availability of therapies at the time. the disease has been identified.
A diagnosis of Pompe triggered various emotions such as anger, denial, depression, fear, gratitude, guilt, and relief. “It’s not real,” replied one participant when asked what he thought at the time of diagnosis. Another said, “To be fair, at first it was a relief, because I thought I had cancer; my husband thought I had motor neuron disease.
The initiation of treatment was greeted with gratitude and good humor, with some saying, “It’s better. Participants said that the most important symptoms to treat were difficulty walking (55.6%), fatigue (37%), breathing problems (37%), balance problems (22.2% ), continence problems (22.2%) and muscle pain (18.5%). .
“Once I have entered [treatment], I felt better – like something was happening, ”remarked one participant.
Living with Pompe has been described as an acceptance and adjustment over time, as well as emotions such as anger, guilt, and loss. “We treated it like we lost something, like we lost a friend. And go through the grieving process of all the… anger and resentment, and then acceptance and progression, ”said one participant. “It’s hard for me to handle,” said another succinctly.
As their condition worsened, most patients reported impacts on their lifestyle, daily activities, social life, and vacations. The disease affected the ability of individuals to continue working and led to increased dependence on others, such as family members and caregivers. Participants also reported that the disease affected their family relationships. Disruptive life events, such as accidents or bereavement, have added to the emotional and physical burden.
When asked about the impact of the disease, on a scale of 0 to 10 – with 0 reflecting no impact and 10 being severe – the average score was 8.5. Factors associated with a greater perceived impact included young age, physical activity prior to diagnosis, and any financial difficulties. Smaller perceived impacts were advanced age, continued work and past hobbies, and no financial problems.
Finally, participants were asked about the impact of the COVID-19 pandemic. The emotions reported were anxiety, fear and loneliness. “It made it worse,” said one participant. Another said: “If I had COVID there was that element because my breathing is so affected… It was a real fear.”
For the most part, the pandemic has been a time of heightened anxiety and bad mood, as well as physical deterioration. This is mainly due to their vulnerability to lung disease and participants’ fears of being infected. Difficulties included isolation and reduced contact with family and friends, less home care available, temporary loss of therapy, reduced contact with health care providers, and fewer assessments such as health tests. lung function.
“While each participant’s experience is different, this study identified an archetypal emotional journey,” the investigators wrote. “The diagnostic process was generally long and tedious, with most participants stressing their desire to reduce the time to receiving a diagnosis by being referred to a specialist healthcare professional. [healthcare professional], and start processing.
“Participants requested access to additional support at the time of diagnosis and recommended educating GPs about Pompe disease,” they added.
The study results shed new light on the actual experiences of patients with late-onset Pompe disease, the researchers said.
“To date, few studies have examined the experiences and emotions of individuals associated with the trajectory, from detecting the first symptoms to obtaining a diagnosis of [late-onset Pompe disease] and live with the disease, ”the researchers said.