When we had to say to everyone that our little boy is poorly, and the illness he is suffering doesn’t have any cure was the hardest thing I’ve ever done. All people know that rare illnesses exist, but you never expect to suffer them on a close member of your family.
Adrià was born apparently healthy. During his first year nothing was making us suspect what would happen in the next few years. He was a big boy, his actions, his movements, his diet, his expressions, everything looked completely fine.
After his first birthday everything changed. He was loosing weight and became weak and fragile. He didn’t want to play and he wasn’t happy. It took a year and numerous trips to doctors and hospitals to get the diagnose: he was milk protein intolerant. That fact would explain all the symptoms.
Adrià had an emotional improvement after the changes in his diet. But he was still weak and fragile and he was falling often. The doctors kept saying that was normal after a year of malnutrition problems, but that didn’t convince us anymore. We had the feeling that something else was happening with him.
When Adrià was three years old and went to school we could see clearly that his development wasn’t the same than the other children. He couldn’t run, he hardly could go up stairs, and was really hard for him to stand up.
We went back to the paediatrician various times, but we didn’t get any answers. It is well known that mother feelings are normally right. We decided to go to a neurologist specialized in children. What should be a normal appointment didn’t go as planned. After a full examination and looking at Adrià’s difficulties the doctor said that he was suspecting a very severe illness and needed some more information. He signpost us to a children hospital called Sant Joan de Déu (Barcelona) where we could be seen by a specialist in paediatric neuromuscular diseases. We couldn’t believe what he just told us. We were full of tears and frustrated. I would 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 make you cry” my heart just broke. We couldn’t cope with the pain we were feeling, but we wanted to protect him from it.
In the next few days, Adrià had to have all the tests some of them were aggressive. He had: a skin biopsy, a blood test and a muscle puncture to determine the muscle activity. Even before having the results, they told us the suspected diagnose. Adrià had a CMD by deficit in collagen VI. It is a rare disease muscle degenerative. In the next few years he wouldn’t be able to walk, to eat or even breath, and the worse bit is that doesn’t have cure, and the end is inevitable.
We couldn’t believe all we had been told. It couldn’t be possible. Quickly we decided that we would do all we could or go anywhere: London, USA,… to find the help needed. If not we would give all we had to investigate, we would pay all privately, we would sell our house, involve the whole family… because all we always though was important for us lost the meaning. The answer we had straight away was that wasn’t a cure anywhere, and only ourselves wouldn’t be able to support a clinical investigation. All this money that we were thinking with, we would needed to help our own son with orthopaedic support, physiotherapy, and all that he would need in the near future, as well as a private treatment if this ever existed.
At that point, we were frustrated, sad, scared. It is the worse to hear that your little boy is poorly and you can not do anything to help him. We couldn’t imagine how we would explain it to him when the time will arrive. All that broke our heart.
After that, we start looking for a few months for help or support from other families in the same situation, or organizations, or somewhere that we could give us guidance. We felt lonely in a big world. We even thought to give up our life. These have been our feelings for a long time. One day our thinking change when I woke up, looked at Adrià, and I saw the illness in front of me, I decided to fight it. Then I spoke with Carlos, my husband, and we understood that we had two options: stay at home and cry or help our son. That’s how we decided to create the foundation to support the investigation and spread the knowledge about CMD by deficit in collagen VI. For us is not a rare disease because we are living with it and we want to help all families and patients in the same situation.
Since then our minds changed, we don’t want to die anymore. Our son needs us, and we need to help him today, tomorrow and always whatever happens. We need to do anything possible to make him happy, keep strong for him, and fight to delay the worse end. That it is our life philosophy now, and what we told each other when we are feeling low.
Our next step was to meet Dra Cecilia Jimenez (investigation coordinator in Sant Joan de Déu Hospital) and Dr Andrés Nascimiento. They let us know all the barriers and problems in the investigation of rare diseases, like CMD by deficit in collagen VI, basically caused by not enough financial support.
With that, we make the decision, that was needed a strong diagnose platform, that everyone could access and register themselves. Like that would be easier to follow the evolution of the patients with the same illness. Without out this is really difficult to help with the continuity of the clinical trials and get the pharmaceutical industry involved with the production of the treatment because is not profitable enough.
Our foundation goal is to promote the illness and help with the investigation, here in Spain or internationally, to avoid that Adrià and all children affected by CMD by deficit in collagen VI get 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 his condition yet, but he is intelligent and he knows that he can’t physically do the same than the rest of the children. He goes three days per week to physiotherapy sessions and twice a week to swim classes and he never complains. He knows is the necessary training for him to be able to run, jump, be strong and play football like daddy.
With our story, we would like you to help us to keep all the patients like Adrià smiling and without loosing the hopes for a better future.
And we can say: Give them strength! Give them life!