CTNNB1 syndrome, discovered in 2012, is a severe rare neurodevelopmental disease associated with intellectual, motor and speech developmental disability, microcephaly, vision and behavioural problems, and sleep disturbances. It affects 1 in every 50,000 children.
What is Martita like? What are her qualities? Martita is a very sociable, cheerful and outgoing girl, and she has a great sense of humour. She is persistent and tenacious, which helps her a lot with her therapies, because she has great willpower.
Tell us about her feelings. Love is perhaps the purest feeling there is, and Martita spreads it everywhere she goes.
What is Martita’s role in the family? She is the “sandwich” sister, with her brother Juan, aged 8, above her and Jaime, aged 18 months, below her. Her role is perhaps to bring out the best in each of us, and in fact she does… Mind you, with a lot of patience on our part.
Tell us about Martita’s strength. Although Martita is a “non-verbal” child, meaning that as of today she cannot speak, she instantly catches people’s eye and attention with her infectious joy, and wins their hearts.
Because of Martita’s illness we have learnt to prioritise, to give importance to the things that really matter, without leaving room for what is not worth it to take over our minds.
Martita is a very strong girl, and in a way that means we have to rise to the challenge too, because if she can reach so high, how could we not?
When you have to live through a situation like ours, having a daughter with special needs because of a rare disease, it makes you put yourself in other people’s shoes in a special way, empathise with people who may be going through a hard time for whatever reason, and above all not judge anyone, because you never really know what each person has been through.
Despite everything, I think Martita manages to bring out the best in everyone. In my case, for example, I am learning to practise patience, to give thanks every day and to enjoy the little things.
What goes through parents’ minds when their child is diagnosed with a rare disease?
My husband and I were given Martita’s diagnosis at the end of the summer of 2020, when she was about 14 months old. At first it was a shock, because nobody could explain to us exactly what CTNNB1 syndrome was or how it was going to affect our daughter…. On top of that, at first we were told they thought Martita was the only case in Spain. As parents, we were not really aware of everything we were going to go through from that moment on, or of the long road ahead of us, because living with a rare disease is like “running a long-distance race”.
Are those fears real? Fear is completely natural and humanly understandable, and there is no need to be ashamed of it, because I think everyone goes through this feeling at some point in their life and… it isn’t a bad thing! What I think is important is that the fear does not take hold, and that we are able to manage it so we can keep moving forward.
Looking back on the moment of diagnosis, what were the prospects and what is the reality?
The prospects at the time of diagnosis were not very hopeful, although it is also true that the doctor who gave us the diagnosis said something we have always kept very much in mind: “don’t put limits on Martita”. And that is what we have tried to do, and still do. Supposedly she was not going to be able to walk or talk, and she would have a severe disability, and yet… today she walks and even runs, in her own way, but she does it. Despite the special needs that come from her illness, she is an immensely happy girl, and she passes that on to everyone around her. Who would Martita thank? She would thank, above all, our families and closest friends. And also all the people who, little by little, have become involved and interested in Martita’s illness in one way or another. Not forgetting her therapists and teachers, who are essential. We are very lucky to have such good people around us; as I have said before, angels who keep crossing our path. And you? I thank Martita for being who she is, for teaching us every day to fight like a champion, always with a smile in her eyes, and for showing us that there are no limits in life. Has everything you have been through been worth it? Without a doubt, of course it has been worth it; in fact, I can’t imagine life any other way. It’s funny, but despite all the difficulties and bumps we keep finding along the way, it is worth it. In this life we have to fight for what we want and, above all, for what we believe in. How are you facing the future? We are facing it with enthusiasm and joy! We have learnt to think about the future in the very short term, living day by day and enjoying every small achievement, always looking ahead.