Huntington's disease is named after Dr. George Huntington, who first published a scientific paper "On Chorea" in 1872. Dr. Huntington observed sudden, involuntary movements of the body that resembled a dance. For a long time, the disease was called Huntington's chorea, but involuntary movements were only one of its main symptoms, and it was later called Huntington's disease.
Natalia Grigorova is the founder of the Bulgarian Hunting Association, a clinical psychologist by profession. He became acquainted with the disease in 2013, when he consulted a family affected by this genetic disease. In search of a way to help the family, she contacted her colleagues from Europe, who advised her to create a Hunting Association in Bulgaria. This happened in 2014. Since then, Natalia Grigorova has been dedicating her time to work for this cause.
Mrs. Grigorova, how many Bulgarians are affected by Huntington's disease?
- There are no official data, but according to statistics in Europe, those affected by Huntington's disease in Bulgaria must be between 500 and 700 families. In our association, we know of only about 200 potentially affected people who have a diagnosis confirmed by genetic tests, and 150 people have active symptoms and are being treated.
What are the symptoms of this disease?
- Huntington's disease affects several areas of human functioning. There is progressive degeneration of nerve cells in certain areas of the brain. The breakdown of nerve cells leads to uncontrollable movements (chorea), cognitive deficits, emotional disturbances and psychiatric symptoms. Motor disorders are the main thing that disables the patient, which prevents him from working, serving himself, dressing himself, and feeding himself. Cognitive (cognitive) functions are also damaged, a person's ability to plan his actions.
Mental deviations also occur - most often depression and psychosis. In Bulgaria, there are very severe cases with psychotic manifestations close to schizophrenia, with manifestations of aggression and uncontrolled behavior. That is why Huntington's disease is misdiagnosed as schizophrenia.
It is not necessary for all three spheres to be damaged, for the entire complex of symptoms to manifest. Only motor disorders may be present - hyperkinesia (involuntary movements) and the person may remain with preserved cognitive abilities for a long time. The disease can begin only with psychiatric symptoms. But as the disease progresses, cognitive functions are necessarily impaired, as the brain cells responsible for these functions are damaged.
How old are the affected people?
- Most different. We have a case of a juvenile form of Huntington's disease that manifests itself in early childhood. But usually the disease is unlocked between the ages of 25 and 45
We also have early onset - at 25 - 27 years old. Then the disease is very aggressive, rapidly progressing to a severe form. When it unlocks at 40 - 45 years, it goes a little easier. In our country, there are patients both 25 and 70 years old.
How long does the disease progress to a severe form and what is the outcome for these people?
- Lethal. There is no treatment. But this does not mean that nothing can be done for these people. There is a medicine that relieves chorea. So-called genetic silencing is in clinical trials. Medicines similar to transmitter hormones are injected into the spine through infusions, which quickly penetrate the patient's brain and destroy the disease-causing protein. The gene that causes Huntington's disease sends a signal that starts overproducing Huntington's protein, which clogs up the brain and disrupts its functions. But through the infused medication, the production of this protein will be reduced and even stopped. Which means that the disease will be controlled. Patients are currently being recruited for the fourth phase of the clinical trial.
Walk in support of Huntington's patients, in the middle is Vlado Tomov - chairman of the Association of People with Rare Diseases
As far as I know, people with Huntington's disease are open to participating in any clinical trials
- Oh yes. They agree to participate because it is their only hope. Unfortunately, no such clinical studies are conducted in Bulgaria. From our association, we work successfully with neurologists from Aleksandrovsk Hospital - with Prof. Tarnev, with Dr. Zhelyazkova, who are open and willingly help people with rare diseases. They also want clinical trials of therapies for Huntington's disease to be conducted in Bulgaria. And there are many young patients for whom this is urgent.
What is the purpose of the European conferences on Huntington's disease, which you have been organizing for several years in Sofia?
- This is how we gather disease specialists and patients in one place. At the last conference from September 22 to 24, we emphasized practical activities. One of them was devoted to the importance of physical activity in these patients. They should be physically active every day - at least walk for an hour, and if possible, exercise a little more. But this depends on the capabilities of the patients, on what phase of the disease they are in. A study of people with Huntington's disease found conclusively that daily physical activity for three months
has improved the motor functions of the sick
They have gotten so good that they have stopped the medication that is meant to overcome the hyperkinesia. It turns out that movement alone is enough to improve the condition as much as the medication.
What can you psychologists help people with Huntington's disease?
- The work of the psychologist with the patients is very necessary in the period when they understand that they have this genetic disease. Because in many families they are not aware of this heredity. Twenty years ago there was no diagnosis of Huntington's disease and only now are these cases coming to light. So the role of the psychologist is critical. He must help the illness to be talked about and accepted by the family, so that it does not lead to extreme reactions. There are many cases of suicides, severe depressions and other pathological behavioral reactions when it is impossible for people to accept the illness and work it out in the family.
The psychologist must help not only with the person affected by the disease, but also with the whole family, because for all relatives it is a severe trauma, the parents feel a sense of guilt. Everyone in the family needs to be supported, especially in the diagnostic process, when genetic testing is done and when a person decides whether or not to be tested at all. It is encouraging that more and more people are seeking help from the Association. We work with more than 60 families. About 30 families attended the last European conference in Sofia.
What is the biggest problem of Bulgarians with this disease?
- The biggest problem of these people is the lack of quality care when the disease is already advanced. It is extremely difficult to be looked after by relatives at home. These people need ongoing specialized medical care specifically targeted to their needs. The best palliative care for Huntington's patients is available in the Netherlands, Norway, Sweden, Germany, France, Italy, Belgium.
It is also a problem in our country that psychiatrists refuse to work with patients with Huntington's disease. Only one psychiatrist in Sofia has made a commitment to these people - Associate Professor Donchev from the Academy of Medical Sciences. The rest believe that it is a purely neurological disease. But it is also psychiatric.
Huntington's patients in Bulgaria are only en titled to a three-day hospital stay in a neurology department in order to be diagnosed. But he has no right to a genetic test, he has to withdraw 500 BGN and pay for it. It is strange that the medical commissions (TELK) give them low rates of disability, which does not give the possibility of a companion, although it is a progressive disease that ends in death. These people cannot use the programs for social assistants either. And their only medication is not reimbursed, and for the fourth year now we have been taking steps to have it taken over by the NHIF.
