OUR STORY
OUR STORY
December 24, 2017. While our little boy was only 6 weeks old, we went to pediatric emergencies because he had trouble feeding and had not been gaining weight for 3 weeks. We thought it would be a routine visit with perhaps a baby disease that made him feel uncomfortable. We were wrong and we did well tonight to go to the pediatric emergencies . After two hours of exams and after a first prognosis oriented towards bronchiolitis: a NICU doctor arrived with the chest X-ray of our child and an ultrasound machine on which we could see that his heart was very thick and that It was working very bad. The medical exam confirmed that the situation was very serious.
Our boy was then intubated and put into an artificial coma to be transported to Necker NICU, the only place where we could still try to help him. The doctors explain to us that the situation was critical and that he would certainly not leave the NICU department. Doctors do their best. We gave them our trust and we lived for a month hanging on every minute with our child.
From the first days, we accepted the biopsy to identify the disease and to identify as much informations as possible for other cases, for other patients. After three weeks of resuscitation our child go over all predictions and following some events his condition has gradually improved.
We went to a unit of metabolic diseases. We left the Necker Hospital after seven weeks. The care was continued at home, so we understood that we were fully responsible for the support of our child. We then experienced several difficult months during which we put in place treatments and during which we lived from day to day because our boy still had severe heart disease.
After several months and despite pronounced hypertrophic cardiomyopathy always present on the ultrasound, cardiac function became normal and remained stable since the introduction of beta-blockers in its treatment. From week to week, especially during the summer holidays, we found that our little boy's condition was improving. In spite of his motor problems, he continues to be more and more present and to make more and more smiles.
It was in September 2018, almost 10 months after tissue harvesting, that we had the genetic results. The geneticists explained to us that we were lucky because they found the gene responsible of our son disease: ATAD3A gene affected by a denovo variation. The mittochondrial disease was confirmed. The article written by Dr. Harel and Dr. Yoon was given at the same time as the genetic diagnosis :
we saw that the other 5 children with this disease were still alive and some could even walk. We cried at this idea: maybe one day he will walk. We integrated a group on which we found other parents of children with ATAD3A gene mutation.
In these moments, we felt a strange sensation that mixes pain with incapacity. Nature will always have the upper hand. The only solution is to help those wish to work on this research subject and maybe one day we will have some answers and maybe a therapeutic way will be found. We started reading all the articles on the subject, I say read because we are neither doctors nor biologists and we do not understand everything. By interacting with the authors of these articles we understood how important is to create an association and
develop a clear and functional dedicated platform .
ATAD3A.COM is platform aims to bring together all those who are affected by this disease and make connections with research teams easier. To communicate about the latest discoveries and facilitate exchanges.