Hereditary amyloidosis in Spain: a patient-advocate’s insights into the community’s needs
Catilena and her mother were diagnosed with hereditary amyloidosis (ATTRv) caused by a gene variant that is widespread in the Balearic Islands. Here, she describes her experiences and her advocacy work
Catilena Bibiloni, 39, first encountered hereditary amyloidosis (ATTRv, also known as ATTRv or Andrade’s Disease), when her mother, Magdalena, was diagnosed with it in the 1990s.
After a genetic test in 1998 Catilena learned she had the same gene variant (Val50Met) that had caused her mother’s ATTRv. Many people with hereditary amyloidosis in Majorca have this variant, and the disease is considered endemic on the island.
“I suffered a lot when I knew that I had the mutation,” she says. “I was too young, just 16 years old, and I wasn’t able to understand. I cried a lot. I was looking at my mother and thinking, Oh my God! I am going to suffer the same. This was terrifying and I was really worried about my future.”
In 2016, at the age of 33, Catilena began to have health problems, which her doctors diagnosed as symptoms of the disease. Her weight fell rapidly from 90kg to 53kg, and soon she experienced fatigue, episodes of dizziness, loss of sensitivity in her feet, and long periods of diarrhoea and constipation.
Seeing her disease progress was extremely upsetting for Catilena, and at first she isolated herself from friends and family. ATTRv seemed to be stripping away the opportunities she had been looking forward to.
“When you’re young, a diagnosis has a great impact on your plans—your work, your finances, your relationships… Everything.”
Her symptoms have had a profound effect on her quality of life, not least that they forced her to stop work as a physiotherapist. “I lost my strength in my hands”, she explains. She has needed to find the money to replace her manual car with an automatic one—the lack of sensitivity in her feet made dealing with three pedals dangerous. Diarrhoea was a factor in her decision to stop work, and it has affected her leisure time too: “going to a concert is a big problem because a lot of people means a busy toilet”. The cost of the various products she needs to deal with the diarrhoea, such as wipes, nutritional products and pills, increase the financial burden of the disease.
Catilena began treatment for ATTRv six months after her symptoms started, but her symptoms continued to progress. She hoped a different treatment might help her, but she had a frustrating year-long wait for it to be approved by the Spanish healthcare system.
Catilena says that her symptoms are “more or less stable now” and she takes good care of herself, eating healthily and practising qigong (a Chinese system of exercise and breathing). She says: “The days when I feel good, I can achieve lots, but I’ve had to learn that if I have a day when I’m unwell, I have to stay home to rest and then tomorrow will be a better day.”
“I had to learn the best way to live with this condition—it was a long and difficult process. And it is different for every patient.”
In 2018, two years after her clinical diagnosis with ATTRv, Catilena decided that she wanted to help the amyloidosis community in Spain, so she joined the board of the Balearic Association of Andrade’s Disease (ABEA). “I felt ready to share my experience and help other people,” she says.
Today, ABEA’s membership includes 80 symptomatic patients, 50 asymptomatic carriers, and 20 caregivers and family members.
Catilena recommends that patients join their local patient organisation, not only because there is strength in numbers when raising political awareness of its unmet needs, but also because it creates valuable connections that support individual members. “It’s important to accept that support,” she says.
“Sometimes we learn more from other patients than from a medical professional, because we can share our own learning on how to manage the condition.”
Disease awareness and education
One of the most pressing unmet needs that ABEA has found is addressing primary care doctors’ lack of knowledge about hereditary amyloidosis. This is a particular problem in parts of Spain where the disease is not widespread, she explains, and it is a barrier to early diagnosis.
“It is really important to get a diagnosis at an early stage.”
ABEA works hard to educate doctors, patients and people who think they may be at risk of developing the disease. Its website is a mine of information on topics such as genetic testing, financial support, the latest research, and how to best manage the condition. “Many patients look to Google for information about their condition, but sometimes it’s unreliable,” Catilena says.
Genetic testing
There is, however, another barrier to early diagnosis: some people who know the disease is in their family but who are not showing symptoms are too “scared” to take a genetic test to find out if they are at risk. Yet people who do come forward and get a positive test can have yearly follow-up appointments, meaning that their doctors can spot the start of symptoms and prescribe treatment quickly. “Access to genetic testing is easy,” Catilena says, “and normally when there is a case in the family, there is access to counselling.”
Pre-implantation genetic diagnosis
In Spain, a person who knows they are a carrier of the disease can ask for pre-implantation genetic diagnosis if they would like to have a child. This technique, which is used during IVF, makes sure that the gene variant they have is not passed on to the child. This technique is covered by the health care system in the Balearic Islands and other parts of Spain but not in all parts. In some regions the patient has to pay for this.
Holistic care
With hereditary amyloidosis having a complex set of symptoms, multi-disciplinary care is important for patients. But Catilena believes that there is unmet need there, too: “I think that our multidisciplinary teams aren’t complete. We can access a neurologist, or a cardiologist, but access to a psychologist, a social worker or an occupational therapist is difficult.”
“Patients can get depressed,” she explains, “and that’s very complicated because we have to manage both the depression and the symptoms of the condition.” She would like to see specialists working together better to help manage the psychological aspects of ATTRv. Regular support is important, she says. “At ABEA we talk with our patients once a month via email or telephone call; we get in touch to ask if everything is okay and if they have any questions.”
Catilena believes there are further unmet needs around the provision of social care professionals and health care professionals such as specialist nurses. These have an important part to play in helping patients cope with their ATTRv diagnosis. But “in Spain,” she says, “patients have to go to the private health system and pay for a podiatrist, physiotherapist, psychologist, because the public health system only provides them with a few sessions—and that’s not enough. Treatments do not stop the condition completely, and in the later stages it’s normal that the patient can’t walk… They need a wheelchair and a lot of home care.”
“It’s important to monitor the patient in all areas, including the holistic care… The patient has symptoms, but they also have a family, a life, and other needs that treatments don’t cover.”
Catilena’s greatest hope—“her dream”—is that there will be more research into ATTRv that will ultimately result in a cure.
“The clock is ticking and patients can’t wait.”
References
[1] González-Moreno J, Gaya-Barroso A, Losada-López I, et al. Val50Met hereditary transthyretin amyloidosis: not just a medical problem, but a psychosocial burden. Orphanet Journal of Rare Diseases. 2021;16(1):266. doi:10.1186/s13023-021-01910-5
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