Rare diseases – a challenge for the medical world

Bokayeva, Kamila; Miraleyeva, Alua; Walkowiak, Dariusz

doi:10.20883/medical.e503

Cited by 5 publications

(4 citation statements)

References 15 publications

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“…Moreover, this research supports findings from other countries that have shown that both medical students and healthcare professionals lack training and experience on RDs and that many problems of RD patients result from their negative experiences with healthcare system (40)(41)(42)(43)(44). For example, several Polish studies conducted among nursing, physiotherapy and medical students and practicing physicians and nurses showed that they possess insufficient knowledge about RDs and do not feel prepared to care for such patients (28,29,(45)(46)(47)(48)(49). Also research conducted in Spain (50,51) and Belgium (52) showed that most physicians do not possess adequate knowledge on RDs and rarely use Orphanet or other reliable sources on the Internet.…”

Section: Discussionsupporting

confidence: 84%

The Awareness of Rare Diseases Among Medical Students and Practicing Physicians in the Republic of Kazakhstan. An Exploratory Study

Walkowiak

Bokayeva

Miraleyeva

et al. 2022

Front. Public Health

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Although national plans or strategies for rare diseases (RDs) have been implemented in many jurisdictions research show that one of the main barriers RD patients face during medical encounter is medical professionals' low level of knowledge and experience on the diagnosis, treatment and rehabilitation of RD patients. Consequently, there is a need to increase the standards of medical education in the field of RDs and to revise the undergraduate and postgraduate training programs. However, while studies on medical education in the field of RDs has been conducted in various countries across the both Americas, Asia or the European Union, still little is known about the awareness of RDs among healthcare professionals in the Republic of Kazakhstan. Thus, we conducted a survey among 207 medical students and 101 medical doctors from the West Kazakhstan Marat Ospanov Medical University, Aktobe, Kazakhstan. The study was conducted between March and May 2021. The questionnaire assessed their knowledge about the number, examples, etiology and estimated frequency of RDs. It also evaluated respondents self-assessment of competence in RDs. Although the majority of respondents agreed that RDs constitute a serious public health issue both medical students and medical doctors showed insufficient knowledge on the etiology, epidemiology and prevalence of RDs, and many had problems with separating RDs from more common disorders. Moreover, they also lacked knowledge about and the central register of RD patients and reimbursement of orphan drugs in Kazakhstan. Finally, while almost half respondents declared having had classes about RDs during their studies most perceived their knowledge about RDs as insufficient or poor and felt unprepared for caring for RD patients. Additionally, although majority of respondents in both groups believed that all physicians, regardless of their specialization, should possess knowledge on RDs many respondents did not look for such information at all.

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Section: Discussionsupporting

confidence: 84%

The Awareness of Rare Diseases Among Medical Students and Practicing Physicians in the Republic of Kazakhstan. An Exploratory Study

Walkowiak

Bokayeva

Miraleyeva

et al. 2022

Front. Public Health

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“…Secondly, while taken individually RDs are rare or ultra-rare, when combined they affect a significant number of people, as approximately 6–8% of the world’s population suffer from them. This means that between 300 and 350 million people worldwide are affected, including 27–36 million in the European Union (EU) [ 5 ] and 2.3–3 million in Poland [ 3 , 6 – 8 ]. Thus, because RDs affect a very large number of people they constitute an important medical and social challenge and an urgent public health issue [ 4 , 9 ].…”

Section: Introductionmentioning

confidence: 99%

Are rare diseases overlooked by medical education? Awareness of rare diseases among physicians in Poland: an explanatory study

Walkowiak

Domaradzki

2021

Orphanet J Rare Dis

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Background During their studies, future physicians are often taught that while evaluating a patient they should first consider a common diagnosis and not a rare one. Consequently, although most physicians will face the diagnosis or treatment of a rare disease (RD) at some point in their professional lives, many assume that they might never meet a patient with a specific RD. Moreover, many physicians lack knowledge about RDs and are not prepared for caring for RD patients. Thus, the aim of this paper was to assess the awareness of RDs among Polish physicians. Methods The study was conducted among 165 medical doctors taking their specialization courses at the Poznan University of Medical Sciences, Poland. The questionnaire assessed physicians’ knowledge about the number, examples, etiology and estimated frequency of RDs. It also checked the self-assessment of physicians competence in RDs, as well as their opinions about university curricula in this respect. Results The study shows that while most physicians lacked basic knowledge about the etiology, epidemiology and prevalence of RDs, many had also problems with separating RDs from more common disorders. Moreover, 94.6% of physicians perceived their knowledge on RDs as insufficient or very poor and less than 5% feel prepared for caring for patients with RDs. Simultaneously, while over 83% of physicians believed that RDs constitute a serious public health issue, 17% were of the opinion that mandatory courses on RDs are not necessary in medical curricula and 6.7% were not interested in broadening their knowledge of such diseases. Most respondents derived their knowledge on RDs from university courses, scientific literature and research, as well as from the Internet. Conclusion Since the study shows that there is a urgent need to fill the gap in physicians’ knowledge on RDs, it seems advisable that extra courses on these diseases should be added to medical curricula and physicians’ postgraduate training. Furthermore, as the Internet is the main source of information on RDs, e-learning programs and courses for all medical professionals should be organized.

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“…Interestingly, patients/caregivers reported more problems with low-Phe products than with Phe-free formulas, but it was less difficult for most patients to adhere to the diet during the lockdown than before. Assuming that this was the reality, that is, due to objective or subjective causes, e.g., pandemic-related stress and not exclusively the patients’ feelings, it could have impacted their diet and deteriorated problems related to vitamin and mineral intake already observed in the pre-pandemic period [ 13 , 14 , 15 , 16 , 17 ]. Moreover, these issues together with general changes in food consumption observed during the pandemic could have influenced energy and metabolic balance, increasing overweight and obesity problems observed in patients with PKU [ 18 , 19 ].…”

Section: Discussionmentioning

confidence: 99%

Phenylketonuria Patients’ and Their Caregivers’ Perception of the Pandemic Lockdown: The Results of a National Online Survey

et al. 2022

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The first pandemic lockdown dramatically impacted many aspects of everyday life, including healthcare systems. The purpose of this study was to identify problems of patients with phenylketonuria (PKU) and their parents/caregivers during that time. We aimed to analyse potential differences in the self-reported compliance and characteristics of contacts with a doctor/dietitian before and during the pandemic lockdown and the perception of access to special food and opinions on remote contacts between a particular group of respondents. All participants (n = 614) were asked to complete an online questionnaire that consisted of 31 questions on pandemic-related events and circumstances which may have directly or indirectly impacted health and treatment. The people who completed the survey were divided into three groups: parents of PKU children (n = 403), parents of PKU adults (n = 58) and PKU patients older than 16 years (n = 153). The differences among the three analysed groups were found in the number of contacts, the way of contacting a doctor/dietitian during the pandemic and satisfaction with remote contact. Caregivers of children with PKU reported better therapy compliance, more frequent contacts with specialists and more satisfaction with remote visits than adult patients. We also observed a relationship between satisfaction from remote contact and self-reported frequency of contacts with a doctor/dietitian, as well as a relationship between satisfaction from remote contact and recommended blood Phe levels reported by both patients and caregivers. Travel time exceeding three hours from the respondents’ location to their doctor was associated with higher odds of their recognition of remote contact as a method of PKU treatment only in the group of caregivers. In the caregiver groups, the reported worse access to low-Phe products during the lockdown was linked to the perceived difficulty of maintaining the diet. However, such a relationship was not found among patients. In conclusion, significant differences in the perception of the pandemic lockdown and its impact on health and treatment-related issues were found.

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Rare diseases – a challenge for the medical world

Cited by 5 publications

References 15 publications

The Awareness of Rare Diseases Among Medical Students and Practicing Physicians in the Republic of Kazakhstan. An Exploratory Study

The Awareness of Rare Diseases Among Medical Students and Practicing Physicians in the Republic of Kazakhstan. An Exploratory Study

Are rare diseases overlooked by medical education? Awareness of rare diseases among physicians in Poland: an explanatory study

Phenylketonuria Patients’ and Their Caregivers’ Perception of the Pandemic Lockdown: The Results of a National Online Survey

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