Mrs. Grigorova, what is Huntington's disease and how many families in Bulgaria are affected by it?
Huntington’s disease (HD) is a genetic neurodegenerative disease. Every child of a parent with Huntington’s disease has a 50% chance of inheriting the gene mutation. There is no reliable data how many people in Bulgaria are affected by Huntington’s disease; although, the disease is included in the National Register of Rare Diseases. According to global statistical data 1 in 100,000 people in the world has Huntington’s disease; therefore, there should be approximately 800 families affected by the disease in Bulgaria. Our association knows about 250 families countrywide, with most of the HD patients in Bulgaria coming from the Black Sea coast area.
What are the manifestations of Huntington’s disease?
There are several types of symptoms. The neurological symptoms include specific involuntary movements of the whole body and a dance-like gait (chorea). Some cognitive changes: dementia, and sometimes inability to perform a sequence of routine tasks in their daily life. As the disease advances, mental health symptoms start to appear – delusions, psychosis, aggression. However, these occur more rarely. The most common psychiatric symptom that occurs at the onset of the disease is depression: loss of interest or pleasure in all normal activities, apathy, wanting to stay at home, rather than going out to socialize.
When is the defective gene activated, at what age, and is it triggered in all carriers?
Everyone who has this mutation will eventually develop the disease. The symptoms usually start at 30 to 40 years of age, but the disease can also have a late onset in which case patients have a more benign disease progression.
Is there a cure for this disease?
There is no cure yet. Certain drugs are used globally for treatment of Huntington’s disease, but they only help in managing the symptoms. One of them can control the chorea, the neuromotor symptoms, to some extent. However, this medication is not authorized for use in Bulgaria and is not reimbursed by National Health Insurance Fund. In Bulgaria, doctors prescribe some lower-cost alternative, but it is not life-saving. This medication does not have any effect in the advanced stages of HD.
Of course, many clinical trials of various experimental drugs are currently being conducted worldwide, and these studies are showing promising results. Some of the therapies under research use gene-silencing. But all those clinical studies are still in progress and, unfortunately, no such investigational drug can become available to HD patients in the near future.
What is the standard care for HD patients in other developed countries and how does it compare to the care available in Bulgaria?
People with advanced Huntington’s need constant medical care and assistance. We have visited various centers in Norway and Belgium. These are special residential health care facilities for HD patients, each patient has their own room and is under medical supervision and care. There they also engage in various activities during the day so that they have a better quality of life. If they were living in their own homes, it would be very hard for their families to provide them with adequate care and assistance. In the advanced stage of the disease HD patients tend to fall frequently, some of them lose their ability to walk and become bed-ridden. And that’s what happens in Bulgaria.
People with advanced Huntington’s need constant medical care and assistance. We have visited various centers in Norway and Belgium. These are special residential health care facilities for HD patients, each patient has their own room and is under medical supervision and care. There they also engage in various activities during the day so that they have a better quality of life. If they were living in their own homes, it would be very hard for their families to provide them with adequate care and assistance. In the advanced stage of the disease HD patients tend to fall frequently, some of them lose their ability to walk and become bed-ridden. And that’s what happens in Bulgaria.
In fact, in Bulgaria, under the clinical pathway program, the people with Huntington’s are entitled only to a three-day stay at a hospital’s neurology department per year. The Bulgarian National Health Insurance Fund (NHIF) doesn’t even pay for the genetic test which can show whether a person carries the faulty Huntington's disease gene. People have to pay for it themselves. No reimbursable medications or rehabilitation is provided to HD patients by NHIF, although those are very important to adequately manage the patients’ condition. Clinical studies conducted worldwide prove unequivocally that regular rehabilitation and physical activity improve the condition of HD patients; even though, sometimes they only prevent the symptoms from becoming more severe. Also, these patients have specific nutritional needs because they lose a lot of weight. However, no assistance in this respect is provided for HD patients in our country.
How do the families affected by Huntington’s manage? How do they live?
It is very hard! Last year, the Bulgarian Huntington’s Association distributed among the patients aids and assistive devices from a donation. HD patients need special chairs because the involuntary movements make them prone to injuring themselves by hitting furniture. For the same reason they need special beds. When we visited the families, we saw that they struggle financially and barely manage to get by. One of the family members – the mother, the father, the husband or the wife, who is the primary carer, has to stay at home because their loved one with Huntington’s needs 24-hour care. Typically, the families have to survive on a single disability pension of meager 200-300 levs, because for some weird reason people with Huntington’s can get only category 2 or category 3 disability certificate. These families are barely surviving. No outside assistance is available to them, even for a few hours. According to the applicable Bulgarian laws only fully-disabled people (with 100% degree of disability) are entitled to a personal assistant.
The government institutions are heavily in debt to the people with Huntington’s disease. They are left on their own; no care or support of any form whatsoever is available to them.
How does your association make up for the lack of care and assistance by the government?
We have opened a unit for rehabilitation, psychological and social support at Tsaritsa Yoanna ISUL University Hospital. A second, bigger rehabilitation center is due to open its doors very soon thanks to donations and volunteer work. We are providing some consultations online as well. However, we cannot provide the day-to-day care needed by every patient on a national scale. This should be done by the local social services.
During the seven years of existence of the Bulgarian Huntington’s Association I haven’t seen any sign of commitment or willingness on the part of politicians to change the status quo for the people with rare diseases. Until recently, there was hardly a mention about their need for social support. Only very few rare disease patients with a very limited number of diagnoses are receiving medical care. Rare disease patients are often people with an incurable disease for which there is no available therapy. Apart from making the diagnosis, medicine is not currently able to offer more. That is why social care should be made available to those patients. But it’s actually non-existent. Unfortunately, we are not living in a welfare state. So, our short-term hopes in this respect are based solely on our own efforts. We are planning to open a hospice care facility for people with advanced Huntington’s. The only one thing we demand from the government is to reimburse a therapy for Huntington’s disease whenever such therapy is accepted in the medical practice and officially approved; and we strongly hope to be able to achieve this.
