Having to tell everyone that our little boy was sick, and that his condition had no cure was the hardest thing I’ve ever done. Everyone knows that rare diseases exist, but never expect to see that happening to a family member.
Adrià was born apparently healthy. During his first year nothing made us suspect what would happen in the following years. He was a big boy and his behavior, his movements, his diet, his expressions, everything, looked just fine.
After his first birthday everything changed. He started losing weight and turned weak and fragile. He didn’t want to play and he looked unhappy. It took a year and numerous visits with doctors and hospitals to reach the diagnosis: he was intolerant to milk protein, which explained all his symptoms.
Adrià had an emotional improvement after the changes introduced in his diet. But he was still weak and suffered frequent falls. Doctors kept saying that it was normal after a year of malnutrition problems, but that didn’t convince us anymore. We had the feeling that something else was wrong with him.
When Adrià turned three and started school, we could clearly see that his development wasn’t the same as the other children. He couldn’t run, he could hardly climb stairs, and it took tremendous effort for him to stand up.
We went back to the pediatrician several times, but we didn’t get any answers. Regretfully, mother’s feelings are usually right, so we decided to visit a child neurologist. What should have been a regular appointment just didn’t go as planned. After a full examination and looking at Adrià’s difficulties the doctor said that he suspected the existence of a very severe condition but needed additional information. He directed us to a Sant Joan de Déu University Hospital in Barcelona where Adrià could be checked by a specialist in children’s neuromuscular diseases. We just couldn’t believe what he told us. We were frustrated and broke down in tears. I will never forget Adrià’s words coming out of the doctor: “don’t worry mum, I don’t want you to cry… we won’t come back to see this doctor that makes you cry”. I was heartbroken. We couldn’t ourselves cope with the pain, but we wanted to shield him from it.
In the following days, Adrià had to take many tests, some of which were quite aggressive. He had a skin biopsy, a blood test and a electromyography (a muscle needle puncture to determine the level of muscle activity). Even before getting the results, we were told the alleged diagnosis. Adrià had Collagen VI CMD. Doctors said it is a degenerative rare muscledisease and that in a few more years he would not be able to walk, would have trouble eating and even breathing, and that there is no cure, so the end was inevitable.
We couldn’t believe it. It was not possible. We then decided we would do everything in our hands or go wherever iot took, to find the help he needed. We were ready to give everything we had to research, pay the treatment, sell our house, get the whole family involved… because everything we always thought was important for us, had completely lost its meaning. The answer we got straight away was that there was no cure anywhere, and we would not be able to fund the necessary clinical research. All this money that we were ready to give away would be needed sooner than later to provide our son with orthopaedic support and physiotherapy as well as a potential treatment if it ever was found.
At that point, we were frustrated, sad and scared. There is nothing worse that hearing that your little boy is sick and that you cannot do anything about it. We couldn’t even imagine how we would explain it to him when the time would come. It all broke our heart.
After that the shock, over a period of a few months we looked for help or support from other families that may be in the same situation, or patient organizations, or simply someone that we could provide us with some guidance. We felt alone in a very big world. We even had serious thoughts about simply giving up. We felt like this for a long time. One day, however, everything changed when I woke up, looked at Adrià, and I saw the disease looking straight into my eyes. And I decided to fight it. I spoke with Carlos, my husband, and we realized we had only two options: stay at home and cry or get out there and do something to help our son. That’s how we decided to create the Foundation to promote and fund the research on the disease and increase awareness of Collagen 6 - CMD. For us is not a rare disease anymore because we are living with it every day and we want to help all families and patients in the same situation.
Since then, our mindset changed. We don’t want to die anymore. Our son needs us, and we need to help him today, tomorrow and always, no matter what happens. We need to do everything in our hands to make him happy, stay strong for him, and fight to delay the course of the disease. That it is our current philosophy of life, and what we tell each other when we are feeling low.
Our next step was to meet with Dr. Cecilia Jimenez (Research Coordinator at the Sant Joan de Déu University Hospital) and Dr Andrés Nascimiento. They helped us understand all the barriers and problems of rare disease research, basically due to insufficient funding.
With that, we made the decision that a stronges diagnosis platform was needed, so everyone could access and register by themselves. That way it would be easier to follow up patient evolution with the same condition. Without that, it is next to impossible difficult to ensure continuity of clinical trials and to get the pharmaceutical industry involved in the production of treatments, as it is just not profitable.
The goal of the Foundation is to increase awareness of the disease and fund research, either here in Spain or elese where, to make sure Adrià and all children suffering from Colagen 6-CMD are never forgotten.
Adrià is a shy but really happy boy with a great spirit of achievement. He loves playing with his friends. He is not aware of the nature of his condition yet, but he is intelligent and he knows that he can’t do the same than other children. He goes three days a week to physiotherapy sessions and twice a week to swimming classes and he never complains. He knows it is necessary for him to be able to run, jump, be strong and play football like his daddy.