JONAS Matys (Czech Republic)

Jonas will turn six in January 2021 was born as a healthy child, lively, smiling and very skillful. If you could see him rolling over, crawling, a trained soldier wouldn’t be able to follow him. At the age of 12 months he has made his first steps, “mama“ even said in ten months. Like any mom, I was so proud of him.

Then something strange happened…. Shortly after his first birthday walking was suddenly insecure, he fell more often as he was pretty much unstable and every infection unfortunately including vaccination would worsen it. We started an incredible roller coaster of examinations, visits to all possible specialists, hospital stays, invasive examinations which unfortunately did not reveal the origin and cause of its problems. And as life went on, and the problems began to deepen I also began to notice that he doesn’t hear well. I pointed it out to doctors but they failed to investigate him apparently for his non-cooperation as they were testing him with an approach as he were an adult person. Only a speech therapist in Adeli Medical Centre referred us to a specialized clinic in Brno. They are able to do hearing tests there with “non-cooperating child” surprisingly they are even able to test an infant so Jonas was for them a very cooperative child. Doctor at the clinic was willing to work outside his working hours so Jonas could get the hearing aids as soon as possible as he has already lost so much time not hearing properly… The fact that he can’t hear well was paradoxically good news. He’s finally going to get something that’s going to help him, hearing aids, or “machines,” as Jonas calls them, great! We were all looking forward to it. The world began to have for our Jonas a different dimension. Suddenly he identified sounds such as leaf rustling, whispering, and there were sparks in his eyes.

At some point, however, it was clear to me that these deepening problems would not disappear and standard rehabilitation and exercise at home will not help. Unfortunately, there has been no direction from specialists we were seeing in terms what to do, so we had to find our way figuring it out. The most we learned from the parents of children who were facing similar problems. We started intensive neurorehabilitation stays even abroad and did number of other therapies which weren’t covered by the health insurance. I knew that this was all I could do at that point and all our family including our amazing fighter have been working with great commitment. Although Jonas did progress, at the same time I felt that I was fighting with something that was unfortunately stronger.

Fortunately, a great expert came to our way, Professor Honzík from Prague, Czech Republic, who finally had done complete genetic screening. After several years of uncertainty, the day came when we went for the results of genetic tests. The verdict was “Your son has a very rare metabolic disorder ECHS1 deficiency, for which unfortunately there is currently no treatment” It is very serious diagnosis but on the other hand, we finally know where the problem is and we strongly believe that the supportive treatment with low valine diet and some supplements will help keep Jonas stable. When I found out about the gene therapy I was so excited that there is already being paid attention to such a rare disease. I do believe the research will bring a cure for our children and even to those who weren’t born yet. They do deserve it and I will do everything I can to support the research by spreading awareness of this disease and helping raising the needed funds.