Funded by and developed in collaboration with Chiesi Global Rare Diseases

Professor Ales Linhart, from the First Faculty of Medicine at Charles University and General University Hospital in Prague, Czech Republic, shared with us his experience of caring for people living with Fabry disease

 

 

The Fabry centre at the General University Hospital in Prague was set up in 1998 to meet the needs of patients and families living with Fabry disease. It also looks after people whose symptoms suggest they might have the disease.

It is the “biggest and only centre in the country for Fabry disease, following up more than 220 patients”, Professor Ales Linhart says. Approximately 10% of the patients are children and 90% are adults.

 

“Since it is so large, you can imagine that over its 25-year history we have built up a huge amount of experience.”

 

In recent years, doctors are diagnosing more people with Fabry disease after seeing signs and symptoms of cardiac disease, Ales says. Reducing the time taken to diagnose patients and to start treating them is “absolutely essential”, he believes.

A newly diagnosed patient will have access to a multi-disciplinary team at the centre, and this multidisciplinary approach suits the complex nature of Fabry disease, Ales explains. The patient can start on a treatment quickly, potentially reducing irreversible damage to organs.

The centre has an internist, a neurologist, a dermatologist, an ophthalmologist and a psychiatrist, in addition to a cardiologist, who is also a trained psychologist. The centre is active in clinical trials and pre-clinical studies, so it is also supported by pre-clinical scientists and geneticists.

 

“Fabry disease is a fantastic example of how to approach lysosomal storage disease, and the multi-disciplinary team approach in a single centre represents a paradigm shift.”

 

“The story of our cohort of patients is usually someone who presents with cardiac disease and is then diagnosed with Fabry disease as the first member of an affected family.”

 

In Ales’s experience, patients really value receiving a diagnosis—it often comes after many years of unexplained illness. “They feel relieved to understand their condition and to have an answer, after spending years wandering from one doctor to another and seeing dozens of specialists looking after them for only a specific symptom.”

Although patients may feel relief at finally getting a diagnosis, they may feel negative emotions, too. According to Ales, mothers “often say they feel guilty or responsible for spreading Fabry disease in their families”.

The fear of the unknown may be another emotional burden for patients, especially for patients with non-classical (late onset/atypical) Fabry disease who are not yet showing symptoms, Ales explains. These patients often worry about what the future could hold, knowing that they may face future burdens. “There is often extreme insecurity in these cases. But we can offer psychological support—someone who is always ready to listen. And I believe this is very important.”

Ales believes that an “integrative approach” to care is vital, so that patients feel supported. Although he and the other team members are all specialists, they work in the same way as family doctors to give that support.

 

“ We are not just treating a constellation of symptoms—we are supporting patients’ everyday troubles. ”

 

Offering a patient treatment which is appropriate to them often helps them to feel more hopeful, he says.

Patients may also be hopeful about the potential of gene therapy, but Ales stresses that correcting the faulty gene in a person with Fabry disease may not cure the disease, and he believes that efforts must continue to develop new treatment options.

 

 

A standard approach to treatment is not the best way to improve the quality of life of people with Fabry disease, Ales says. This is because of the varied ways people experience the disease. “For one patient, the crucial symptom is pain; for another, it may be gastrointestinal symptoms.” He feels that it is important to capture patient-reported outcomes in a way that captures people’s different experiences.

 

“We know that quality-of-life support is not something we always have a good handle on.”

 

Individualising care is “paramount” in helping patients and families to have a better quality of life, he says. Because Fabry disease progresses slowly, doctors need to really understand which symptom is most troublesome for a patient and focus their care accordingly, he believes.

According to Ales, psychological support for patients can make the “world of difference” to them and their families, and peer support is also important.

 

“Not everyone wants to receive psychological support, but in my experience, those patients that have it suddenly do not feel alone. They experience being part of a community sharing experiences and knowledge. And that is empowering.”

 

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Content developed by RARE Revolution Magazine in collaboration with Chiesi Global Rare Diseases (GRD), with the interview and writing support of Rhonda Siddall of Onrush Productions. All opinions are those of the contributor. RARE Revolution Magazine retains all copyright.

UK-CHI-2300731  November 2023

 

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