The Cyprus Association of Familial Amyloid Polyneuropathy Patients and Friends (TTR-FAP-CY), is an non-governmental, non-profit association founded in May 2015, to represent the patients of this rare disease.
Through its activities TTR-FAP-CY aims to provide continuous information to patients and their families regarding new medical and research developments, especially regarding innovative treatments, as well as to raise awareness and inform the general public about the disease. Simultaneously, the Association strives to safeguard the rights of patients, especially those contained within the authority of the Ministry of Health (e.g. access to innovative medicines) and the Ministry of Labour, Welfare and Social Security.
More information about TTR-FAP-CY are available at https://fapcyprus.org/
What is Familial Amyloid Polyneuropathy?
Familial amyloid polyneuropathy is a rare hereditary (genetic) disease, with an average onset age of 40 years, affecting individuals which bear a genetic mutation of a specific protein gene (transthyretin), produced by the liver. In Cyprus, this disease is more often found in persons originating from the Kyrenia and Limassol districts.
The symptoms of the disease include progressive neuropathy (e.g. muscle weakness), as well as gastrointestinal, genitourinary, circulatory, kidney and eye problems. The absence of timely and accurate diagnosis mainly due to lack of awareness regarding its symptoms. Furthermore, without appropriate treatment, the disease leads to disability and demise due to heart failure and weight loss.
Until a few years ago the only way to inhibit the progression of the disease was liver transplantation. Effective oral treatment, approved by the European Medicines Agency, however has been available since 2011, to slow down the progression of the disease whilst patients await transplantation. In addition, studies have shown that this drug can be used instead of transplantation as it may stabilize the disease. Therefore, in this way the patient avoids the risks that accompany transplantation, inhibits disease progression and improves their quality of life.
- To update TTR-FAP-CY members regarding the medical and research developments related to the disease as well as their rights in the context of the European Charter of Patients’ Rights, and the various State benefits.
- To train and enhance the knowledge and skills of patients, a necessary tool required to both improve their quality of life, and to ensure their valuable and productive participation in the development of future health policies.
- To strengthen existing and/or develop new collaborations with other organisations and associations active in the health sector.
- To monitor and actively participate in the procedures for improving access of patients to orphan drugs and pharmacovigilance.
TTR-FAP-CY Educational, Informational and Supportive Programme (2017)
- Information Campaign
The activities included in the campaign, and described below, will aim to provide information to the following groups:
- Patients/ Families
- Healthcare professionals
- General public
- Organisation of workshops in two districts, aiming to educate patients / families on the medical developments in this field, as well as other topics, which directly or indirectly concern patients (e.g. psychological support, pain management, health policies etc.). The series of workshops in the two districts will cover the Pancyprian information needs.
- Development and publication of informative / educational material (e.g. brochures, posters) regarding the disease, patients’ rights and benefits offered by the public sector for patients. The material will be distributed at the Institute of Neurology and Genetics, Nicosia and Limassol General Hospitals (particularly in the hepatology, cardiology, ophthalmology departments) as well as at selected private ophthalmology centres etc.
- Attaining visibility for Familial Amyloid Polyneuropathy in Mass Communication Channels – TV, radio, written press, etc., with a view to educating the public about the disease and the issues related to its diagnosis and treatment.
- Organization of a Scientific Conference, to inform patients / families and healthcare professionals about the latest scientific developments as well as the development of the skills of patients for further involvement in shaping healthcare policies at national level.
The program will include presentations by international scientific experts regarding medical developments, patient testimonials, presentations on the implementation of European regulations and directives in Cyprus on orphan drugs, psychological care and rehabilitation services (e.g. physiotherapy, occupational therapy etc.).
Expected participation – 100 persons
- Communication Tools
- Upgrading and updating the Association’s website (https://fapcyprus.org/) both in relation to scientific articles on research advances, informational material about the changes in services provided in the public sector and medicines in Cyprus and access to publications and other educational links. Links to other websites (ORPHANET, Amyloidosis Community, Amyloidosis Support Groups etc.) to promote the exchange of information between stakeholders.
- Further development of TTR-FAP-CY social media (Facebook, Twitter).
- Development of Support Services to Patients and their Families
Upon expression, familial amyloid polyneuropathy causes muscle weakness, numbness and a tingling sensation in the lower extremities, weakness in temperature discrimination in the legs, loss of potency in men, cystic disorders with urinary retention and incontinence and constipation, unintentional weight loss and orthostatic hypotension. In its advanced stages (about 5 years after the onset of symptoms), the disease deems the patient chronically horizontal, presenting gastrointestinal, genitourinary, circulatory, kidney and ophthalmological problems.
Even after liver transplantation, any damage caused to the patient previously usually endures so that patients continue to experience physical and psychological challenges resulting in a reduced quality of life.
Based on the above, TTR-FAP-CY aims to provide support services entailing the holistic care of patients, and their families (where applicable), thus pursuing patient rehabilitation in addition to societal and occupational integration.
The provision of services for psychological support and physiotherapy are specifically proposed, with the financial assistance of TTR-FAP-CY.
- Psychological Support Services
- Sessions will adhere to a framework of confidentiality, where the patient and his/her family (on an individual or group basis) can express and discuss their concerns in a safe environment.
- Group psychotherapy
- Will help the patient understand that there are others who live in the same manner. Through the interaction with the other group members, exchanging views and experiences in the daily management of the disease, the patient will be able to further develop his/her personality, and empathize with his/her peers.
- Will help family members, to obtain an in-depth understanding of the views, concerns, feelings and possibilities about daily management issues arising from supporting the patient. Meeting with other families living in similar situations, will act beneficially to assist adjustment to the new situation and develop coping mechanisms.
- The patient and family members (on an individual or group basis) will be provided with support for:
- The psychological management of the disease and acceptance of the new situation
- Personal psychological support
- Stress management resulting from the disease and its future development
- Dealing with interpersonal problems that may occur within and outside the family environment
- Support for psychological and emotional challenges
- Pain and fear management
- Bereavement and loss of a loved one
- Physiotherapy Services
- Aspiring for the physical rehabilitation of the patient, access to a qualified physiotherapist will be provided to individual patients, aiming at the improvement of their neurological and muscular condition following transplantation.
- Development of collaborations
TTR-FAP-CY will focus on the development of new, and strengthening of existing collaborations, for networking purposes and sharing knowledge and experiences with the following:
- Cyprus Federation of Patient Associations and Friends
- Cyprus Alliance for Rare Disorders
- Cyprus Institute of Neurology and Genetics
- Medical community (particularly with the following professional societies: Ophthalmology, Cardiology, Neurology, Urology, Nephrology, Gastenterology)
- Patient Associations abroad (e.g. Portugal, Italy, France, Sweden, USA, Brazil, Japan etc.)
TTR-FAP-CY is seeking financial support for the materialization of this project, which falls within the efforts of the Association for providing education, information and support to patients with familial amyloid polyneuropathy and their families, as well as the medical community and the wider community.
Please see detailed budget attached.
The logos of supports will be clearly displayed on the TTR-FAP-CY website and in material prepared in the context of the project.
REPORT & EVALUATION
- A detailed report will be prepared every three months, for each activity, to be reviewed by the Board of Directors of TTR-FAP-CY. The Board will assess the activity progress and ensure that actions taken are in line with the objectives of the project.
- In addition, an Annual Report of TTR-FAP-CY will be published each year and distributed to members, supporters, sponsors and collaborators.
 Rare diseases are defined as a disease or disorder that affects less than 1 in 2000 citizens, as per the European Regulation on Orphan Medicinal Products- (EC) No 141/2000 (http://eur-lex.europa.eu/LexUriServ/LexUriServ.do?uri=OJ:L:2000:018:0001:0005:en:PDF). Some are so rare that they affect 1 in 100,000 persons. Rare diseases are chronic, debilitating, often leading to disability, which affect the health and quality of life of patients. It is estimated that there are approximately 8,000 known rare diseases.