Mrs. Hristakeva, when was your son’s diagnosis established? What symptoms did he have then?
My son’s mucopolysaccharidosis was diagnosed when he was still very young, at the age of 2 and a half. We took him to the doctor because he had a common cold. Dr. Bachvarova, who is now head of the Pediatric Ward of the hospital in Sliven examined him. It turned out that many years ago she had a patient with mucopolysaccharidosis; the children with the disease have distinctive facial features and look alike, just like the children with Down syndrome. So, Dr. Bachvarova suspected Pavel of having the same condition and referred us to Prof. Ivan Mitev Children’s Hospital in Sofia to get the necessary tests. It turned out that Pavel was the first patient in Bulgaria who got a proven diagnosis at this young age. He is an exception, usually the parents of children with this disease are trying for years to get a definitive answer to the question what is wrong with their child. They see the intellectual and physical developmental delays but can’t figure out what exactly the problem is. Doctors usually look for a genetic disease if there is another case in the family. They can’t test patients for all 8000 rare diseases that exist out there.
So, my son was diagnosed when he was 2 and a half years old. It was a shock for us because this is an inherited disease. I am talking about type II in particular, because there are seven types; mucopolysaccharidosis type II is inherited from the mother and it occurs exclusively in boys. But in Pavel the mutation has occurred sporadically at conception, because nobody else in our family has this disease.
We spent ten days at the hospital, he underwent various examinations, and he had IQ tests. Pavel was one of the few patients with an exceptionally high IQ; his was 112. This is very high for a child at the age of 2 and a half. He began to walk and talk very early. Cognitive impairment progressively occurred later as he grew up, because there was no therapy for him.
How long was your son without therapy?
Pavel was born in 2001, but it wasn’t until 2012, after we had gone through hell, that we managed to receive an approval from the authorities for Pavel to start therapy. When I started the National Association of Patients with Mucopolysaccharidosis there were 11 children diagnosed with the disease. Six of them passed away. The maximum age they can live to without therapy is 11 years. Each death of a child with mucopolysaccharidosis is mourned deeply by the parents of the other children because they know that this will happen to them eventually. Despite everything I didn’t give up and continued to fight for therapy. My son was the first who started therapy, even before the therapy was authorized for use in Bulgaria, because my husband had been working in Greece for many years and had social and medical insurance there.
What kind of damage did Pavel get over time, what was the effect of the therapy, and did you manage to revert the damage?
When he was 5 years old, he started to walk on his toes. He gradually stopped talking although he understood absolutely everything. This happens because the central nervous system gets damaged. He stopped talking despite of my efforts to help him. I even “tortured” him. I waited for him to tell me what it is he wants in order to give it to him; although; I knew by just looking at him. We have such a strong bond. But at some point, I sensed that he felt pain, literally, when I was trying to make him say something. He whimpered and then said what I wanted to hear. But he gradually stopped talking completely. This is a problem affecting the brain and nobody can control it.
The enzyme replacement therapy which we receive every week is not perfect. Although it maintains the patient’s life, it does not cross the blood-brain barrier and has no effect on the brain. Thus, it cannot reverse the damage to the brain from the disease. The therapy slows the damage to the liver, the heart and all other organs. That’s why our association is fighting to ensure the therapy is available to the patients as soon as they are diagnosed in order to prevent more damage to the internal organs.
Did Pavel’s condition improve with the therapy?
Many people would say that he lives a miserable life because he is not able to walk, he cannot hold his spine straight, his posture is stooping. Many doctors who did tests on his brain say that only a very small part of his brain is functioning. But nonetheless he understands me. I don’t know how to explain this. We sing to him, tell him stories, tell him about things that happened in the past, all the time. Sometimes he doesn’t pay any attention to us, but when I start talking to him, I feel that he becomes animated. That suggests to me that Pavel has some old memories. As with Alzheimer's disease, where people have old memories but do not make new ones.
Three years ago, he refused to chew and he had to have a nasogastric tube placed. Because Pavel had developed epilepsy over time and transitioned to therapy with two medications, we had to go to Sofia for some tests and it turned out that his brain had shrunk to the size of a small butterfly. The brain area that controls chewing has not been affected; however, Pavel cannot chew. So we feed him through the nasogastric tube. Thanks to the exceptional care we’ve been taking of him he lives to be 20 and is still with us today.
Do you receive any support from social care services; do you organize any rehabilitation activities for Pavel?
Before the nasogastric tube was placed, a physical therapist came home three times a week to help maintain Pavel’s mobility. But since the start of the pandemic, I have been reluctant to let my son meet people other than family and friends. The lungs of children with mucopolysaccharidosis are very vulnerable. Because of the decreased mobility they are prone to respiratory tract infections and the coronavirus disease could be very dangerous for them. I talked about vaccinating my son to patient organizations from all over the world with which we’ve been maintaining contact. They believe that it is better for the children with mucopolysaccharidosis to get vaccinated despite existing concerns. So, we vaccinated Pavel. My daughter was infected with COVID at school, but Pavel didn’t get it. Thank God, everything was fine.
For my son’s sake, I started to study nursing and then I started working as a nurse at the emergency department. But when the pandemic began, I decided that my children were a priority. Now I am working as Pavel’s personal assistant; and only occasionally take shifts at the hospital.
How does the life of parents of children with this rare disease change?
One of the parents has to stay at home and take care of the child. There is no way this parent can work. These children need a 24/7 care. In the past, we had problems with nursery schools; the teachers didn’t want to take responsibility and look after a child with this disease. We had a very hard time. But I never gave up. Even at the beginning, ten days after he was diagnosed, I was absolutely sure that there would be therapy available for Pavel. Later, a friend of mine who came regularly to the hospital to see us shared with me that when I told her with conviction that bordered on crazy that my son was going to get therapy regardless of everything, she thought I was going crazy. Although, she knew that I am a very strong person, she was convinced that the psychological strain was too much. But nobody is strong enough when their child is diagnosed with such a severe disease.
How many children like Pavel are there in Bulgaria, and what are the priorities and focus of your patient organization?
At present, there are five children with mucopolysaccharidosis type II (also known as Hunter syndrome). There is available therapy only for mucopolysaccharidosis type I, II and VI. The first and most important thing we’ve been fighting for is support for the parents. Because it is very important for parents of children with such a serious diagnosis to receive moral support in order to continue to take adequate care of their children.
The attitudes of the public towards people with rare diseases have changed immensely, but there is still a lot to be done. When my son was still a child the attitude of the teachers at the nursery school was obnoxious. This wasn’t a problem later because we enrolled him at a special education school.
As for the social care services, we have to fight hard even for things we are entitled to. Disability assessment made by medical disability expert commissions is often inconsistent. People with one and the same disease are assessed to have different degree of disability and thus are eligible for different personal assistance work hours. However, every such patient should be assessed to have 100% degree of disability and should be eligible for the full carer’s allowance of 168 personal assistance work hours (8 hours per day).
As a personal assistant to my son working 8 hours per day, I receive 612 levs less tax and social insurance payments. While Pavel was at school and wasn’t yet 18, he was eligible for the full carer’s allowance of 940 levs. Now, however, he receives 210 levs from the social care services plus the lowest disability pension of 270 levs. And we pay 200 levs a month for diapers only. Moreover, when he gets sick, we usually spend a lot on medications. When he had to have the nasogastric tube placed, he got a hospital-acquired infection as a result of which he started having recurrent severe pneumonia. We fought this bacterium for two years. I was spending 1000 levs per month for inhaled antibiotics then. Every child with such diagnosis gets infections every other month; those infections need to be treated. And this costs money.
How do you manage financially on such a tight budget?
I take shifts at the emergency department of the hospital under a contract for services. But currently I am working only at home because my husband went back to school. I do not want to stop him from doing this because I had his support when I studied medicine a while ago. My husband has returned from Greece because Pavel weighs 50 kg now and I find it hard to manage with his day-to-day care. I do need another pair of hands to help me. My daughter needs care and attention too. She is now 15 years old. We adopted her from Greece. She is a real blessing, and I am really grateful for her. Despite of the challenges we faced with Pavel, I wanted to have more children. But I was unable to get pregnant; it was probably due to the stress. Well, if there is a will, there’s a way, and adoption is one of the options. I am grateful to my husband for his support because many marriages don’t survive such a challenge. But ours became stronger. I am happy.