What’s the medical specialist’s view on the issue of rehabilitation of people with rare diseases? Our “Rare Diseases Library” expert and Director of Medical Center “RareDis” – Dr. Radostina Simeonova, MD, PhD explains the nature and importance of this process.
What are actually the Physical Medicine and Rehabilitation? Physical Medicine is a clinical specialty that deals generally with the restoration of functional abilities of disabled persons, preventing disability and reducing complications after illness. This is one of the most multidirectional medical disciplines, because in almost any disease you may need some physical therapy, so we have not any predefined set of disorders with which to deal mainly. Rehabilitation itself is a separate discipline that focuses on several rarely discussed aspects of the treatment of a patient, e.g. whether there are any violated social rights, if the patient need some legal advise in both personal and professional terms, if there is a necessary of prequalification and training for ensuring the economic independence of the individual and many other legal and social issues.
How this concept applies for rare diseases, what are its advantages? Are there any disadvantages?
This concept applies with no less effectiveness for rare diseases, because it usually refers to pain that is chronic and lifelong, accompanied by deterioration. The only disadvantage is our healthcare system, which limits patient access to this type of care for purely economic reasons, when in fact these people greatly need daily care. So, they have to ask and wait for medical referrals from their doctor or specialist. Many patients do not know their health and social rights, which is why their inclusion in the system of dispensary observation, disability certification, or retirement may delay for years.
Is this kind of therapy recommended for all patients or there are some specific requirements and restrictions?
The treatment process of almost any disorder may require such approach at some stage, but its prescription has to be strictly precised and highly individualized for each patient.
What additional skills are required for the medical professionals, who are working with rare diseases patients?
I would not say that something special is required to work with such patients, but it is extremely necessary to handle larger volumes of information because of the fact that these patients are very few and the medical expertise is also scarce. Of course, quality treatment also includes working with patient’s family, training them how to properly care for their relatives in order to assure the highest level of daily care.
Why do rare diseases need a multidisciplinary approach? What does your experience show on this issue?
The needs of rare diseases patients are very diverse, several different systems are usually affected and the complaints are highly individualized. Therefore, when treating such a patient, you have to involve the efforts of different specialists in conjunction with a psychologist and a social worker in order to obtain adequate outcomes. Talking about a holistic approach to patient, it is exactly like this – combining the expertise of doctors of different specialties, supporting the patients and their families by a psychologist, as well as counseling by a social worker. Last but not least, if we can ensure the economic independence of the patient by specific training and professional prequalification, then the way to a better life will be much shorter.
Do the parents and relatives of the patient need to be more closely involved in the treatment process?
Definitely yes! The closest people know best the needs and complaints of the patient, so it is a big mistake to isolate them from the rehabilitation process.
What is the biggest challenge in your daily practice?
There are no uniform rules, each patient is unique. Some of the patients have more personal problems, others’ major concern is the loco-motor restriction, in other patients it is the absence of communication and isolation. So, every time we have to adapt to the needs of the patient and his family.
Is there a case in your career that serves you as a model and guide in working with patients with rare diseases?
This is my first patient with a rare disease. I will never forget the crying mother and tiny baby who came to me after being labelled as a hopeless and extremely difficult case by other colleagues. Now, after so many years I can say that only God knows how and what could be achieved in such severe cases. Rare diseases cases are described in medical books in one way, but in reality they are so amazingly different and unpredictable. We keep trying to give these people all the love and attention that we are capable of, so smiles and hope to return their faces.
What would you wish the readers of “Rare Diseases & Orphan Drugs” on the eve of upcoming holidays?
Be more tolerant of those who are different. Be always ready to give a hand to those who need, because today it’s you helping the others, but tomorrow you’ll be helped. Be informed and defend the rights that you are entitled under law as decent and equal citizens of this country.