Rafael and Ana live in Colombia and are parents of two children: Pablo, six years of age, and Santiago, two. The younger son has Kabuki syndrome, a rare disease that affects between one and nine children in every 100,000. It is one of the pathologies that the SJD Barcelona Children's Hospital investigates in the context of Rare Commons, a web platform that puts researchers in contact with families of patients with rare diseases around the world.
Santiago was diagnosed with the disease at the age of 18 months, although something was wrong from birth. "Santiago was born very little. From the first moment, taking care of him was very complicated because he was born with a low weight, without the feeding reflex and we almost had to feed him with a tube," says his father Rafael.
Ana recalls that "after five months he became seriously ill, he acquired the respiratory syncytial virus and was about to suffer a heart attack. He was hospitalised for 35 days and during his admission he had some genetic tests. And although everything seemed to go well, it was clear that something was wrong. That's why doctors sent for more tests."
From these new tests came the diagnosis. "The results revealed that Santiago had Kabuki syndrome" says Ana. "We had never heard of this disease. At first we feel confused. We started looking for information about the disease and a feeling of doom took hold of us. Knowing that your child has a disease that has no cure, that may accompany you all your life and seeing that it has such complicated consequences in other children, is one of the biggest blows you can have. I didn't stop reading and crying for a week. "
Like many families, Ana and Rafael looked up "Kabuki" in Google, and the first result was the portal Rare Commons of the SJD Barcelona Children's Hospital. "I had read many things on many websites but the most serious thing I found was in Rare Commons. That's why I enrolled Santiago and got in touch with Begonya Nafría, the person responsible for the platform," recalls Ana.
A few weeks later and after exchanging emails, they decided to travel to Barcelona and discuss their case with Antonio Martínez Monseny, a paediatric geneticist at the Hospital. "I can not describe the feeling I felt when, after months of visiting doctors in Colombia and realising that no one knew about the disease, I found an expert on it," says Rafael. "The truth is that I had searched the internet a lot and had located other specialists, very few, in Boston, Manchester and Australia, but they all looked very far away. The treatment seemed closer here. We felt lost until we found experts in my son's illness in SJD Barcelona Children's Hospital".
Ana remembers the first visit to the Hospital. "It gave us a lot of hope, because shortly before this visit, a very prestigious neurosurgeon had told us that he didn't think Santiago would get to walk, talk or go to his brother's school. Dr. Martínez gave me a lot of information about the disease and explained that his patients walk, talk and go to school. Hearing that was amazing".
Fortunately, now Santiago only needs controls and therapies, but he does not need medical treatment or surgery which would make it necessary for the family to move to Barcelona. "It gives us peace of mind to know that we have specialists in the field although they are a little far from home," says Ana .