Isabel was born in 2009. The first signs that something was not quite right began to appear in 2011. She would twist her foot when she walked and had difficulty speaking. “This is when the long road to her diagnosis began”, says Beatriz Fernández, her mother. “My daughter underwent almost two years of tests to find out what was wrong”.
Isabel was born with Tay-Sachs and died in 2014. Her mother, the superhero of this story, decided to fight to improve the quality of life of children with this illness and this was the catalyst for the ACTAYS association, which was founded in 2014 under Beatriz's leadership.
Today ACTAYS has more than 300 regular members and, together with donations from private individuals, organizations and fundraising events, provides limited resources, which go mainly towards research and supporting families, particularly while their children are in hospital.
Tay-Sachs is a genetic disease that arises from a very unlikely coincidence: that both parents are carriers of a mutated gene. And there needs to be one another coincidence too: that the children will go on to develop the disease, something which only happens in 25% of cases. After a few moths the person's mental and physical capacity becomes stunted and they can even become paralyzed. Unable to see or hear, or to swallow food or liquids and unable to breathe on their own.
This is an irreversible disease which still has no cure. If the onset of the disease occurs before the age of two, life expectancy is not usually more than five years old. However, human nature sometimes has a strong will to live. This is certainly the case when it comes to Natalia who is now 20 years old. Her mother Inma explains that “it's true that the progression of the disease has been slower for her than in other younger children”. If the disease develops before the age of 3, life expectancy is far more reduced. Such children do not usually reach 6 years old. If the disease develops past the age of 3 years old, life expectancy is usually up until Natalia's age. But there are people who have lived longer. There has been at least one case of a person living to the age of 40 and another living to 42 years old.
Inma found support at ACTAYS, just like so many other families with children suffering from this disease. The association provides psycho-social support to these families with the help of the psychologist Marialy Guedez who sees families and children with neurological diseases two days a week. This is part of the care package that the association provides in hospitals to help families cope with all the emotions and situations that they will encounter when dealing with neuropathies affecting their children. The association also provides training to health care professionals within its hospital program.
In addition to their hospital program, ACTAYS helps families find orthopedic teams or complementary therapies for those affected by Tay-Sachs and Sandhoff, specifically in Europe and Latin America. Research into treatment and finding a cure is the third main pillar of ACTAYS' actions.