While the very name "rare diseases" may suggest that they are unique health problems and affecting only a small fraction of the population, statistics leave no illusions - despite their being titled "rare" - the total number of sufferers is huge. Rare diseases affect millions, and by the fact that each disease has its own peculiarities, it is often difficult to get to the source of health problems. Both treatment and diagnosis are complex and complicated, as sometimes the disease affects only a dozen, a few dozen or a few hundred people nationwide. One such disease is Wilson's disease. With a view of these patients, a new educational portal zyciezchorobawilsona.pl has just been created.
New educational portal for Wilson's disease patients and their relatives launches
Published March 31, 2023 09:03
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Wilson's disease is a rare genetic disorder that leads to the accumulation of excess copper in the body, particularly in the liver and brain. If the disease is not diagnosed early and treated appropriately, the accumulation of copper can cause severe organ damage and result in severe disability and even death.
Treatment of the disease involves taking preparations that reduce the absorption of copper from the gastrointestinal tract with zinc salts, or removing excess copper from the body via d-penicillamine or trientine. In Poland, treatment with d-penicillamine and trientine is reimbursed, with the latter available under a drug program aimed at patients with Wilson's disease. The drug program can be provided by institutions with gastroenterology, hepatology and neurology profiles. The selection of the appropriate therapy is carried out under the supervision of a physician and is related primarily to the type and severity of the disease's symptoms, as well as to observed side effects.
What's especially difficult about rare diseases is that there is still a lack of awareness of their existence or the presence of specific symptoms in patients, making it common and persistent to look for other causes for the health problems that have been observed in the patient. It's quite common for only the next specialist to begin diagnosing a patient for a rare disease. This is a lengthy process that requires specialized knowledge
and the ability to interpret the results and, in the next turn, to guide the patient accordingly as well.
With Wilson's disease it is like with most rare diseases - the solutions of modern medicine, although becoming more advanced every year, still have only symptomatic treatment to offer. Here, as in the case of many inborn defects of metabolism, an action that supports the treatment process is a specialized diet.
To help patients navigate the health care system and available treatment options, the website www.zyciezchorobawilsona.pl was created as the first online compendium of knowledge for patients struggling with disorders of excretion of excess copper from the body. The website includes several thematic blocks: presentation of the disease specifications, treatment options, news, patient stories, areas of support or a parent's guide. The portal is designed to help systematize the available information and facilitate the path of diagnosis and treatment for those who, in addition to struggling with the disease, are also struggling with a lack of knowledge and information, or difficult access to the most up-to-date data.
- Having run patient support groups for several years, I see how much it helps them to systematize their knowledge and give them a sense of security. In the case of rare diseases, it happens that doctors do not know about existing treatments or are not aware of the centers to which they can refer a patient for such treatment. In such situations, patients are left helpless, and our task is to make them aware and help them in their search for solutions: centers, new therapies, available drug programs or clinical trials. For years, within the association and foundation, we have been trying to support patients and provide them with more information. We are expanding our activities to more groups of patients, because we know that they need to gather their knowledge in one, widely accessible place. This is also followed by hope for them, as well as directional signs for their next steps on the road to health," says Katarzyna Lisowska, leader of the Per Humanus Foundation and the Hematooncologic Association,
and now also founder of a Facebook support group for patients struggling with Wilson's disease.
- We named our site "Living with Wilson's Disease" because we are aware that it is a symptomatically treated disease that stays with us for life, but does not necessarily define it. We want to remind people that early diagnosis and prompt treatment is key in the fight for health and full function, the so-called "return to life." Patients with Wilson's disease face a number of side effects during treatment, hence we are committed to ensuring that they have access to therapies to which they will respond well. Treatment is an individualized issue, but while struggling with the disease, we patients should not feel alone - that's why we are also a registered Facebook group, where we invite patients and their loved ones to exchange experiences. We are committed to creating a conscious
and mutually supportive community," sums up the assumptions of the project by the initiator of the initiative Katarzyna Lisowska.
Wilson's disease affects one patient per 30,000 births, so it formally meets the definition of an ultra-rare disease. Over the past few years, the number of diagnosed patients has increased and the prognosis has improved. Thanks to existing forms of treatment, the disease is not a sentence for patients, but a chronic disease requiring adaptation of appropriate and effective therapies.
Source: press mat.
