„We talk about rare diseases only one day a year. Families with children with rare diseases live with these problems every day. During the pandemic their lives became even more complicated. We need a little human will, knowledge and solidarity to help these children live every day of their lives beautifully. ...”
On the last day of February, the whole world talks about rare diseases. International Day of Rare Diseases is February 29, and so is a rarer day.
It has already been talked about rare diseases in Moldova for three years.
These diseases are also called "rare diseases" because they affect a small number of people. In Europe, a disease is considered to be rare if found in one person in 2,000.
There are many other diseases, which have become rare due to the evolution of medicine. There are some very rare infectious diseases, for example, but also some autoimmune or oncological diseases are rare.
In many countries the notion of a rare disease is included in the law of health protection.
80% of rare diseases have identified genetic origins, while others are the result of infections (bacterial or viral), allergies and environmental causes or are degenerative and proliferative.
50% of rare diseases affect children. A rare individual disease can affect only one person in a million, but all together, patients with rare diseases account for between 6% and 8% of the EU population.
There are tens of thousands of rare diseases. To date, about 8,000 rare diseases have been described in the medical literature, most of which are genetic diseases.
To date, the cause of many rare diseases remains unknown.
I don't know Julia personally, but we're friends on Facebook. Julia suffers from a rare disease. She is now in Belarus awaiting liver transplantation.
July's disease has evolved steadily. Her diagnosis at the moment is: Budd-Chiari syndrome, relapsing sclerosing cholangitis, Leiden V mutation.
Budd-Chiari syndrome (SBC) is a rare pathology that occurs in one person in 100,000 – 1,000,000 people.
SBC presents a pathology induced by thrombotic or non-thrombotic obstruction of the liver veins, with disorder of hepatic venous drainage, blood stasis with hepatic congestion and characterized by hepatomegaly, ascites and abdominal pain. Liver transplantation remains the only effective method of treatment in SBC for non-responders to previous treatments and in case of presence of liver cirrhosis.
„The first symptoms of the disease appeared in 1993-94 in the form of severe allergies without an explanation.
In 2001 the first severe symptoms of fever and jaundice have appeared. A period followed with many investigations and analyses, as result doctors detected a hepatic hydatic cyst, caused by infection with Echinococcus granulosis – in Moldova we are an outbreak of echinococcosis, especially in rural areas.
The cyst was located in the liver and constricted with the cava vein and the central bile duct. It was a septic process with a lot of pus. That's when the doctors in the Republican Clinical Hospital supposed me to a surgery as a matter of urgency. In 2002 a septic process appeared again, as a post-operative complication, and I was re-operated. In 2005 a septic process appeared again. I was operated on at the Fundeni Clinic in Bucharest. After the operation the doctors told me that there is thrombosis of the vein, and I will need a transplant, but not at that time.
The hydatic cyst and was the main cause of Budd Chiari syndrome.
In 2015 I suffered a superior digestive hemorrhage through injure of the esophageal varicose veins. I arrived at the Institute of Emergency Medicine in the Department of Intensive Care, at which point the doctors said I had to join the waiting list for a liver transplant, I was already with advanced cirrhosis.
Also, in 2015 I was genetically tested on thrombophilia, at the Center for Human Genetics, I was diagnosed with the Leiden V mutation - hereditary mutation to the vascular system, with predisposition to thrombophilia.
Having three operations on the liver, I have a very high risk of hemorrhage, due to the lack of clotting factors produced by the liver.
It is a controversial situation – to minimize the risk of thrombophilia I need anticoagulants, but at the same time bleeding occurs due to lack of clotting factors. This is still a negative factor working against me. I have been to consultations in Romania, Spain, Israel and I have also arrived in Minsk, Belarus. The Minsk Transplantation Centre is the only one in Europe that transplants liver from a cadaveric donor to foreign patients.
In Moldova I cannot be transplanted because of complications that can occur, I have the official letter confirming this from the Transplantation Agency. A large part of the analyses for inclusion in the waiting list for transplantation in Moldova were paid out of own pocket, because in the laboratory at the Republican Hospital there was a lack of reagents for analysis, and I had to go to the private lab.
Budd-Chiari syndrome is not included in the list of diseases with state-compensated medicines. No one medicine administered by me (Xarelto, Alfanormix, Hepamerz) is compensated or reimbursed.
Liver transplantation, which cannot be performed in Moldova is covered with 15% of the cost (after court litigation we have letter from the minutes, which specifies 30%) - but we have no official letter from MOH, nor the payment method. According to the internal rules of the Ministry of Health, reimbursement is made after transplantation. Transplantation centers, however, do not start searching for the donor without 100% advance payment. It's a vicious circle on which my life depends now.
In my case we have the following situation:
2001, 2002 –surgery interventions from own account (there were still no insurance policies);
2005 – surgery intervention in Romania from my own account.
Search for transplantation centers abroad – without any help from the Transplant Agency, Ministry of Health. Transplant preparations – zero support; Payment for liver transplantation – zero support;” – so Julia briefly described her situation. Almost 28 years Iulia fights the disease, fights with the system, fights for life.
July's case is a very representative one. Patients with rare diseases may be looking for the correct diagnosis from 5 to 30 years. Many of the rare diseases have not been treated until this time. The life of a patient with a rare disease is complicated and with a lot of uncertainty. However already there are many known components that can make the life of these patients easier.
What should we do in Moldova for patients with rare diseases?
The development of the National Rare Disease Plan is a primary task at this time.
Developing the institutional framework by creating a Rare Disease Centre dedicated to these children and adults will facilitate their access to medical care.
The development of services for the diagnosis, treatment, rehabilitation, monitoring and prophylaxis of rare diseases will allow these patients to benefit from the full spectrum of healthcare here at home.
Improving access to information on rare diseases is also vital for doctors and parents of children with rare diseases.
The development of human resources by stimulating research in the field of rare diseases are important components for the collection of expertise and an efficient functioning of the rare disease system.
Increasing the role of patient organizations and their involvement in supporting patients with rare diseases are equally important.
There are currently almost 1000 patients in Moldova with about 200 rare diseases. All these patients are left on their own, and practically pass the road of Iulia. It is already possible today that these diseases are included in the National Disease Classifier and it is already possible today for some of them to receive some medical services and some medicines free of charge.
We talk about rare diseases only one day a year. Families with children with rare diseases live with these problems every day. During the pandemic their lives became even more complicated. We need a little human will, knowledge and simple solidarity to help these children live every day of their lives beautifully.