Vladislava Vladkova parent of a child with Gaucher disease
My child has been on therapy for Gaucher disease for 12 years. Before that pediatricians thought that he had umbilical hernia.
Statistical data indicate that one in twenty people has a rare disease. Hence, the information campaign dedicated to the struggle of rare disease patients to get timely diagnosis and treatment is called “The 20th Hero”. It is organized by the National Alliance of People with Rare Diseases and Takeda, a biopharmaceutical company. One of these heroes is 13-year-old Lyubo, and Vladislava Vladkova is his mother. The family is from Belogradchik originally but has been living in Montana for 8 years to accommodate Lyubo’s therapy for Gaucher disease.
Mrs. Vladkova, when did you learn that your son has a rare disease?
Right after his birth. Lyubo’s tummy always felt hard, even when the baby was calm. At that time, I thought that this was normal for a baby. During his first year and eight months doctors treated him for umbilical hernia. They used to put special stickers on his naval, and while the stickers were there everything was fine. However, when you peel the sticker off, the naval jutted out again because his organs were enlarged. Lyubo was diagnosed with Gaucher disease at the age of 1 year and 9 months. It happened during the Christmas holidays. We were hospitalized at Tokuda Hospital. The blood test confirmed Gaucher disease. So, at the start of 2010 we already knew the diagnosis.
Who was the first medical professional who suspected Gaucher disease?
We contacted a pediatrician in Vidin. He did an ultrasound scan to see what was going on with my son’s tummy. Because his tummy was huge and his extremities did not have any muscle tone. And Lyubo was eating virtually nothing. Right after we entered the room, even before I was able to undress my son and prepare him for the examination, the doctor started to explain about this rare disease. After the sonogram he told us that we should urgently see a specialist in Sofia because my son’s spleen wasn’t palpable. Neither his liver nor his spleen could be displayed on the sonogram because of their size. This scared us and we left for Sofia right away. The pediatrician referred us to colleagues of his at Tokuda Hospital who were able to reach a diagnosis. Then we were referred to the Department for Genetic Disorders of the Children’s Hospital in Sofia. Prof. Timcheva from this department wrote a letter to the Ministry of Health requesting them to help procure medication for Lyubo. From the ministry replied very quickly, almost within a month, and Lyubo was able to receive his first enzyme infusion at the Children’s Hospital.
What exactly is Gaucher disease and how is it treated?
In a nutshell, this is a defect in metabolism. Due to genetic reasons the body lacks specific enzymes, i.e., the body is not able to produce them, as a result of which lipids cannot be broken down and accumulate in the internal organs, mainly in the liver and in the spleen. The treatment replaces the missing enzymes through intravenous infusion. At the time our family lived in the town of Belogradchik, but there and in the city of Vidin, which is the regional center, we did not have access to the necessary medical care for the procedure. So, we had to move to the city of Montana.
Lyubo receives infusion therapy once every two weeks at the hospital in Montana. Lyubo’s weight increases as he grows up, so the dose of the enzymes for infusion also increases gradually. Now his dose is seven vials, which means that he needs 14 vials per month. The drug is expensive and we cannot afford to pay for it ourselves. It is fully covered by the National Health Insurance Fund.
How does Lyubo feel after he started therapy?
Now Lyubo is 13.5-years-old and he has been on therapy for almost 12 years. He feels well and his development is good. As a baby, he didn’t eat much and he didn’t put on weight; he didn’t grow in height either. But after Lyubo started enzyme replacement therapy, the first things that changed was that his appetite recovered. Very quickly his organs got back to normal size, and he started to grow in height. When he became 3 years of age his organs recovered. We had to be extra careful until then. Then I got back to work.
Did you have any problems with Lyubo’s treatment?
Because there is no clinical pathway for children with Gaucher disease, the pediatric ward of the hospital where Lyubo receives the IV infusions, was fined by the National Health Insurance Fund. That’s why they decided to administer the IV infusions during night shifts. This way my child doesn’t miss classes and I don’t need to take time off work. I have to take time off work only when we travel to Sofia for follow-up checks twice a year.
Does the disease affected the child’s daily life; is he able to live normally?
Lyubo is less energetic because he gets tired quickly. He’s been taking Ambroxol for three years because he has Gaucher disease type 3 with infiltration of the lungs by Gaucher cells. He couldn’t take the medicine from the start so we had to wait for him to grow up. We pay for this medication, Ambroxol, out of our own pocket. It costs approximately 450 levs per month.
Lyubo undergoes regular lung function tests, for example he has to blow into a spirometer. At the beginning he wasn’t good at it, but during the last visit he managed to get a good result from the third attempt. So, his lungs are clearly improving. The follow-up examinations carried out every 6 months by the doctors at the Children’s hospital show that my son has been developing very well. From the very beginning Assoc. Prof. Avdzhieva has been his attending physician.
What advice would you give to the parents of children with rare diseases?
To listen to their doctors and to trust them. Because they are specialists and know what is best for the children.