AOP Orphan has set itself the task of helping people with rare diseases. The personal histories of patients with rare diseases help us to understand their special needs, investigate and develop new therapy options, and introduce these into the market.
Patients of rare diseases like narcolepsy require competent medical care. Due to the rarity of this disease, patients have to face many difficulties such as access to specialised centres, diagnostic tests, and the availability of patient-oriented information.
Associate Professor Stefan Seidel has experience in the treatment of patients with narcolepsy. A specialist in neurology, he speaks about the causes of the rare disease and explains what patients should be aware of.
"The moment one suspects narcolepsy the person must be referred to a sleep laboratory. Brain wave activity, heartbeat, respiration, and muscle activity in the legs can be measured there. In a sleep laboratory one can establish whether patients fall asleep too rapidly during the day – which is one of the major features of narcolepsy."
"If you or your physician thinks you have narcolepsy, it's important to get a referral to a specialised sleep lab, which is a neurological sleep lab. There you can do a polysomnography and multiple sleep latency tests – these are essential for a proper diagnosis and the subsequent treatment."
Currently it is common practice to use substances which are able to enhance a person’s wakefulness and reduce the loss of muscle tone (cataplexy) – either in the form of tablets or as a solution.
It is satisfying to note that the authors of some studies are working on the continued improvement of therapy options. New substances are being developed, tested, and introduced in the market. This makes it easier to treat the patient.
Priv.Doz. Dr. Stefan Seidel
Currently we know that patients have a certain genetic precondition which leads to an excessive immune response because of an infection, and triggers narcolepsy.
The problem is that many persons – about a quarter of the population – have this genetic feature, but that does not mean that they develop the disease.
Dr Stefan Seidel is a neurologist and an Associate Professor of neurology at the University Clinic of Neurology, General Hospital of Vienna. He heads the Special Outpatient Department for Sleep Disorders at the General Hospital of Vienna and is a senior physician at the neurorehabilitation ward.
His main point of focus, among others, is the subject of sleep-wake disorders. The specialist has several years of experience in dealing with diseases such as insomnia, narcolepsy, restless legs syndrome, REM sleep behavior disorders, and other sleep disorders.