Marius Ene – Alpha-1 Leader In Action
I know my story is not a spectacular one; it’s kind of a typical story for many Alphas. If someone would have asked me ten years ago, “Where do you see yourself ten years from now?” my answer would have been sorely mistaken, because I could not have anticipated what would come my way. My name is Marius Ene. I am from Brasov, Romania, and this is my story.
In the summer of 2010 I had pneumonia. I was hospitalized and after 3 weeks and 5 different antibiotics I was sent home because the doctors didn’t know what else to do. Because their treatments did not clear up my symptoms, they advised me to consult doctors of other specialties to diagnose my condition.
The list of doctors they gave me was long and I visited almost all of them without diagnosis; all the while, fatigue and headaches became more and more intense. After every medical examination I had great hope that the new tests would bring about an accurate diagnosis, but each test result did not provide an answer for my condition.
The hematologist suspected me of Jak2 mutation; the gastroenterologist eliminated all possible diseases as well. The only one I did not visit was the psychiatrist, although he was on my list.
A few years later, in 2015, I found that my deviated septum could possibly be the cause of my symptoms. I underwent an operation in November and after surgery my lung collapsed and the symptoms that I had been experiencing for years did not subsided; the same shortness of breath, the same fatigue, the same headaches. Then, a doctor diagnosed me with asthma and I started receiving treatments.
In my desperation I started looking for a “House MD”; the genius doctor who pulls all of the symptoms, clues and test results and is able to finally solve a health mystery. I do not know if there is one anywhere except on TV, but in Romania I have not found one.
The doctor visits continued and the ongoing specialist appointments and testing had now become a lifestyle for me. In the spring of 2017, one of the many pneumologists I had seen suggested that I be tested for Alpha-1 Antitrypsin Deficiency (AATD) and shortly after the test results arrived and it was revealed to me that I indeed have AATD.
I’m a ZZ-father of three MZ-children. When I was diagnosed last year, my wife was pregnant with our little Iulia, who is 11 months old now. I also have a boy, Marc, 2 years old, and my eldest daughter, Sonia, is almost 6.
Now, I finally have a direction and I know what to do. Although most of my story is rather typical for Alphas around the world, there is one distinction in Romania that makes a notable difference: AATD is not on the list of officially recognized diseases. Of course, in this context, there is no treatment or even a medical protocol for the disorder and it remains unknown to most doctors, even those who have completed their genetics college courses.
After a short period of time, I hit a wall and realized that I had to do something more to make a difference in Romnia. I refuse to give up. I thought through the options and considered forming a non-governmental organisation and a short time later we did just that! Three months ago, with the help of my wife and Simona Olteanu (a mother of a ZZ-Alpha boy and the first person who has been involved and dedicated to the Alpha-1 community in Romania for many years) we founded Alfa 1 Romania! This is the first and only Romanian association dedicated to Alpha-1 patients, carriers and doctors.
The first step was to develop the association’s website, inform all those interested in AATD, and gather together and network the Alpha-1 community.
We are currently focusing our efforts in having AATD recognised on the official list of diseases here in Romania. This may seem like a simple task, but because Romania has adhered to many international agreements, excessive procedures and bureaucracy hinder achieving this goal in a timely manner. Additionally, we are not aware of another EU Member State that has not recognized AATD as an official disease.
In Romania there are 12 “non-official” AATD patients registered. This registry is kept by the “Marius Nasta” of Pneumophtisiology Institute, but we already know of other patients who do not appear in these records. The task in front of us is to bring Alpha-1 awareness to a population of 18 million people and to do this the association will need to make ourselves heard loud and clear so the Romanian authorities will treat us with seriousness and respect.
Because AATD affects a very small portion of our population, many doctors remain unaware of the disorder. So another task of high priority is to continue focusing on educating and bringing Alpha-1 awareness to family physicians. Additionally, we will increase our online presence for easy access by any person interested in information about AATD.
As we look to the future, Alpha 1 Romania aims to be the most important voice and resource of the entire Alpha-1 community throughout Romania.
You may visit our website alfa1romania.ro!