From the middle of May 2022, an Information telephone line for rare diseases - 070030097, which is part of the network of support lines of the European Organization for Rare Diseases - EURORDIS, will be launched in Bulgaria. The aim is to provide support to those affected by rare diseases through general information, answers to social, he alth and legal questions. Medical topics will be handled by specialists from the Information Center for Rare Diseases and Orphan Medicines.
The telephone line for rare diseases is part of the "Empowerment of people with rare diseases-2021" Initiative, which aims to support those living with rare diseases in Bulgaria through informational and educational activities, and is implemented by the Bulgarian Huntington Association with support from the "Active Citizens" Fund.
Operators of the Information Telephone Line are patients and family members of those affected by rare diseases who have undergone special training. One of these patient assistants - experts by experience - is Suzanne Genova, 35 years old. She is an accountant by profession. She is a mother of twins. One of them is the rare disease isovalerian acidemia.
Mrs. Genova, what is the rare disease of one of your daughters?
- Isovaleric acidemia is a rare genetic metabolic disorder. In it, an enzyme is inactivated that should normally process the organic acid that is contained in all protein foods, regardless of whether they are plant or animal.
What my child cannot process because she lacks the enzyme accumulates in the body. The consequence is spasticity of the muscles and a delay in development - my daughter does not speak, does not walk, does not sit stably. The disease is very dangerous, even life-threatening, if not controlled in time.
At what age did your daughter develop symptoms of this disease?
- Already in the womb, during an examination for fetal morphology, the doctors saw that the legs were crooked. But they didn't pay much attention, they gave it to the embryonic pose. When he was born, again, no one paid attention to the crooked legs, we were not told that it was a problem. But at the age of two months, the child became so tight, literally like a wooden doll.
Then she was taking both breast milk and formula, and they have a lot of this acid that her body can't break down. Due to the tightness of the body, we started taking the child to rehabilitation and to this day we have not stopped. But they were able to give her the correct diagnosis only when she was two and a half years old.
When your child's symptoms appeared, where did you look and where did you find information about the illness?
- Lucky for us we have doctors in the family and they guided us. First we consulted with a neonatologist, then with neurorehabilitators, neurologists and psychologists. The diagnosis of cerebral palsy was categorically rejected. But when it was seen that the child was lagging behind in his development and no solution to the problem was found, again through doctors from our family we reached the center for clinical genetics.
The road met us with Dr. Adil Kadam, her little finger, who worked in the Department of Clinical Genetics of the Children's Hospital in Sofia. She released research on major genetic diseases to us. The results were negative. Dr. Kadam then recommended us to do the remaining - already paid for - tests that are done abroad. We shipped them to the US.
After a few more months we received a possible diagnosis. And they weren't sure as my daughter's mutation was not registered in America. Then a test for high levels of organic acids in the blood confirmed the diagnosis.
The child has been on a strict diet for a year and a half so far. Accepts special medical foods. Rehabilitation also continues because her muscle spasticity matches that of cerebral palsy. Fortunately, there is no cerebral palsy, but the external manifestations are analogous.
And can the child's body be cleansed of accumulated organic acids?
- We did an MRI last year and thank God, nothing is damaged - the brain and other organs are fine. There's a good chance we can clear her up and get the disease under control so she can one day live like any normal person. But until then, we have a long way to go.
We have a great responsibility to this child to provide her with special medical food, specialists who take care of her. And that's a lot of money. Next week we will go to Greece again, where a specialist is working with about thirty patients with this disease.
There is no other child or adult with isovalerian acidemia in Bulgaria. And we don't like the predictions we've heard here. They say it will never pass. But this is not true. There's a real chance he'll get better. That's why we take her to the Greek specialist, who guides us in the treatment.
There are several types of acidemia, and ours is considered the fastest and easiest to control. There is a chance that we will forget about the symptoms one day. But the treatment and diet remain for life. The doctor told us: "If we go right, with all the care that is taken, at some point the body's tolerance to this organic acid may even increase, so that it can eat calmly without calculating the amount of protein." But there will still be restrictions on animal products, because a unit of plant protein contains less of the acid than animal protein.
From this point of view, my daughter may one day be a he althy vegan. But now it's been a year since the diagnosis and she still hasn't walked. He is willing, he has improved a lot and we already know what to do. He's actually making a lot of progress, but mentally he's lagging behind, which is disturbing.
We are also looking for specialists from other centers for rare metabolic diseases. We're looking into things.
You are one of the operators of the rare disease hotline. Tell us about this commitment of yours
- It was with great pleasure that I accepted this commitment, as it is important that this phone line is answered by people who have a loved one with a rare disease or are themselves a rare disease patient. I've actually gone through the steps for TELC, getting aids, and I'm in these environments on a daily basis. Before accepting this new role, I have always helped those around me. I'm officially doing it right now, and with pleasure. It's not just work, it's empathy.
I know from my own experience how difficult it is when you learn about a rare diagnosis of a loved one or your child. It is even more difficult to find reliable information in Bulgarian. How nice it would have been if a year ago there was a hotline like this that I could call and get the information I needed, get support. My husband and I have been going around all the grocery chains and could hardly find anything to buy and cook for the child. It's good that parents of children with similar diseases contacted me and consulted me all the time.
That is why now, through the Information Line for Rare Diseases, opened by the Bulgarian Huntington Association, we have set out to inspire courage in these people. They need to receive adequate information about the disease, what to expect, whether their child will pass, for example, even whether they will survive, what to do, who to turn to, what their rights are and how they can help their loved one.
They need to know that there are ways to live with a rare disease. If necessary, I share personal experience and refer to competent people who can help. Because the disease is rare, but the care is not.