Although we talked about Sanfilippo Syndrome a couple of years ago, this rare disease is once again in the mouth of many people after knowing the case of a couple whose three children suffer from it.
It is true that there are many rare diseases and this would be considered, sadly, a case of more than so many. But nevertheless, Sanfilippo syndrome It has a peculiarity: it is terrible, because the life expectancy of those who suffer it only reaches adolescence. This means that the three children of this couple will die within not many years, if it is not found how to remedy it. They have called asking for help and I wanted to make it extensive so that it reaches the more people, the better.
His three children are Araitz, seven years old, Ixone, of five, and Unai, which has three. They are Naiara García de Andoin and José Ángel García, and although there is still no cure for the disease, they are convinced that treatment can be achieved. The reason is obviously hope, but above all knowing that treatment studies with mice have been successful.
The next step, of course, is to start studying drugs with people. The problem is that this requires money, and it is very difficult to obtain funds to do a study with drugs that will benefit very few. In Spain there are about 70 families affected by the disease, and that makes it difficult to continue with these investigations, more now, that cuts are being made even in research, when it should be completely the other way around: a country does not become rich and then investigates, a country investigates and as a result becomes rich. Or what is the same, if we want to move forward, we must spend money on research (and especially Spain, where we are very good at putting bricks and serving tables, but where scientists have to look for work in other countries due to the lack of demand that there is here).
Returning to the family we discussed, they explain that what they need is money. Money to invest in research that makes treatment possible. They talk about three to four million euros, which could be used to cure this rare and devastating disease.
What is Sanfilippo syndrome
He Sanfilippo syndrome It is an inherited disease in which an enzyme responsible for breaking down and recycling substances that the body does not need is missing or fails. When this work is not carried out, that excess material accumulates in the cells in a progressive manner, affecting the body in such a way that it ends the death of the person, usually upon reaching adolescence.
As the mother explains, Naiara, and to understand it better:
My children are like they have Alzheimer's. The little or much they can learn they forget from a certain age. It is like the regression of the elderly with dementia. They forget everything, walk, talk, control the sphincters, eat ...
How they found out that the three children suffered
When Araitz was born in 2006, they saw that he had problems. He had trouble learning, seemed to have hyperactivity, suffered many otitis, etc. There was no clear diagnosis, since they talked about a possible autism, but also about the possibility that oxygen was lacking during delivery, which was very long.
In 2009 Ixone arrived in a fast and uncomplicated delivery. In 2010, Unai was born, also without problems. They assumed that Araitz would always have difficulties and were on top of her stimulating and helping him to try that at least don't go back in any way.
Two years ago he picked up chickenpox and, from that moment, events rushed. After overcoming the disease the girl was always irritable, crying, stopped controlling the sphincters, began to have difficulty recognizing the faces and obviously began to suffer a lot from realizing that I was not able to remember things.
From this episode they went to the neurologist. There was no clear diagnosis until a doctor began to suspect that it could be Sanfilippo syndrome. The girl's symptoms and especially seeing that Ixone was beginning to have problems communicating led her to ask for an analysis for the three children.
In May of last year the diagnosis was confirmed. All three suffer from the same disease. The three have the Sanfilippo syndrome. Naiara tells it like this:
When we got the result, we were six people in the consultation. The silence was total. After a while, the only thing that occurred to me to ask was 'The three?' Upon confirmation, we were sunk in misery. And so we have been a few months. But that is past. Now we look forward. We have already cried everything that I could cry. We have to act ... I am convinced that if Bizkaia turns over, we can get it. With three euros to put every Bilbao ...
And I do not know if every Bilbao will put those three euros, but I have put my grain of sand for the cause because my soul breaks thinking that this couple, if the cure is not found, will be seeing as the years go by as his three children are "withering" until a good day (or a bad day) die.
Therefore, if you want to collaborate with the cause, you can make a donation at the Stop Sanfilippo Foundation, in this link. What less. Governments are taking everything away from us, and it is a shame that families like this do not receive the support they deserve, this time in the form of research, but they can never take away my freedom and the possibility of being supportive with the rest.
