The story of Gordana
My name is Gordana, a mother or three – Emilija, Andrej and David. My daughter Ema was born twenty-five years ago, a healthy baby with the occasional fever and sore throat. Six years later I gave birth to my twins Andrej and David… They were born prematurely in the 31st gestation week, with good puerperal weight although quite underdeveloped. The doctors considered it would be best for them to be transferred from the Ohrid hospital to the intensive and prenatal care department at the Pediatric clinic in Skopje by ambulance, immediately after their birth. The professors and doctors that examined them forecasted low survival chances. Nevertheless, those two fighters turned nineteen in March. After six weeks passed at the clinic we came home and Andrej and David were only two kilos and forty centimeters long. It was extremely hard to nurse twins and to have one more child that expects to be put first by his mother.
Their appetite was healthy, they ate well, enjoyed their baths, but with every diaper change I noticed something wrong with David’s urine. Sometimes its color was that of a “dark beer”, sometimes that of a “Coca cola” (actual medical staff commentaries). There were also times where his diaper, round the penis area, was entirely red. The alarm was already buzzing in my head… We started testing… Each time I had urine samples to test, the results were the same… red blood cells in the urine idiopathic hematuria… functional kidneys and bladder – normal growth and development. We had the same results in Ohrid and Skopje.
Heaven only knows the number and types of urine tests we did. I traumatized David by taking him to clinics but we did not get any diagnosis. The monitoring professors advised, since he is premature, to wait for him to “become more mature”, to grow more, and then his condition may improve.
David grows, we go five – six times a year to the clinic, but there is no diagnosis for years. The results are the same, sometimes worse than the previous… Six years ago, when David was thirteen, we noticed he could not hear properly as he did not react at all when we would call him from another room. Considering he was already in puberty, we thought of his behavior as being absent-minded, but the alarm in my head was buzzing again… I scheduled an examination at the otorhinolaryngology specialist. The doctor examined David and tested hi for tympanometry. The test showed no damage and the doctor advised me to get some rest and not to overburden myself. However, deep inside I could not calm myself and I paid close attention as to what was happening to David.
Once again, on a daily basis, I noticed David was hearing impaired. Once again I scheduled a new examination at the otorhinolaryngologist… You should have seen the face of the technician who did David’s audiogram. When he handed the results to the doctor he was speechless… “David cannot hear at all.” – she said. “Nevertheless, let us try and transfer the small bones in the ear.” She subscribed drugs and vitamins. A checkup after a month, but David’s hearing had not improved…
We were approaching David’s regular checkup date at the Pediatric clinic in Skopje, at the pediatric nephrology department.
10/13/2013 we arrived at the Skopje clinic round nine o’clock and we used the same elevator as some professors who had just finished their morning meeting. Professor Kuzmanovska, who has been monitoring David’s condition for years, a pediatric nephrologist, was in the elevator and we chatted casually about how we were, how we travelled… I told professor Kuzmanovska that David has been having hearing problems for the past few months. At that moment she looked at me baffled, she took her mobile and scheduled an appointment with doctor Duma, an otorhinolaryngologist. We immediately went there, she examined David and instructed an audiogram to be made. The results were sufficient enough for her to write ALPORT SYNDROME in capital letters. She called professor Kuzmanovska and told her it was most probably Alport Syndrome, which is diagnosed by kidney biopsy or a DNA genetic testing. She explained that David’s hearing loss (up to fifty decibels) is permanent and it will not improve. It would be best for David in order to preserve his hearing and speech to wear hearing aids in both his ears…
I myself do not know how I left the surgery… I did not know what Alport Syndrome was, all I knew was that the clinic was spinning around me and I sat on a bench, crying bitterly…in front of my child. We went back to the clinic because professor Kuzmanovska was expecting us. She pressed my hand and said:” Even if we had discovered this sooner, there is nothing we could have done. This way there is less suffering.”
Come to think about it, she was right.
We are going back to Ohrid and my torments begin… Internet searches- horrible diagnosis… rare disease, still no cure… in time kidney failure, transplant, dialysis… horror, horror, horror…
We sent blood samples of the entire family to Slovenia for a genetic examination… six long months of waiting… It is confirmed that David has the Alport syndrome, while Ema is only the carrier, and Andrej is not even a carrier. The gene was inherited from me…and I have no symptoms. The Alport syndrome mostly attacks boys, while girls are carriers.
To make things even worse, David’s case is something extremely, extremely rare…Alport de novo.
I was extremely depressed, crying day and night… I read a lot and joined groups to support families with children with Alport syndrome, where I saw children having dialysis at the age of 2,3 or 4 and transplant… and there is no cure.
What helped me get out of depression was the rare diseases activism throughout Macedonia and the entire world. Over the past five years I have organized many events in Ohrid to raise public awareness about patients with rare diseases as well as the challenges they meet. Being a Macedonian Post Office employee I came up with the idea of publishing a stamp dedicated to the children suffering from rare diseases.
In October 2017, the Macedonian Post Office released, the first of its kind, “Children with rare diseases” stamp and I am ever so proud to have succeeded in persuading the institutions to turn my idea into reality. In June 2019, the Macedonian Post Office approved my idea again and published the “Children with rare diseases Alport syndrome” stamp which I have dedicated to my David and all the children with Alport syndrome in the world.
My fight does not end here… I shall not stop fighting for the rare diseases patients by organizing different supporting events.
So far David is fine. The kidneys are functional, the blood pressure is regulated by 5mg Enap tablets twice a day and that is our therapy. He is wearing the hearing aids only at home, as he is worried that his friends might tease him, and they are the best quality model to put into the ear canal.
What I hope for and what makes me not give up is hope…
Hope that one day I will finally see the experimental drug Bardoxolone methyl on the Orphan Drug list for rare diseases – a cure for Alport syndrome.