We are María and Jesús. It has been 5 years since we first saw the face of our darling son Jor. His gaze touched us deeply and our hearts were bound together from that moment on. The first years with him were filled with love and happiness. Jor is a cheerful, loving child, who enjoys life with enthusiasm and has a great sense of humor!
Jor had, from early on, what doctors call "Global Development Delay”, which meant he did not progress at the same pace as his peers. He was late in walking, talking and did not interact like other children. He suffered frequent health problems, lack of attention and autonomy, he constantly stumbled. However, his charm, kindness and generosity toward others, made everything more than bearable.
After a few years, we clearly understood that something was not right. The cognitive delay started to appear as something that could be long lasting, so we started to prepare ourselves to accept this reality.
In 2020, during the Covid-19 pandemic lockdown, Jor's pains were increasing and his pediatrician decided he should undergo extensive medical tests to identify the root of the problem.
Finally, in August 2020, we received the full explanation: the genetic tests confirmed a mutation that was at the root of Jor’s problems. This mutation was responsible for the disease that we have now come to know as Aspartylglucosaminuria (AGU). It’s a very rare neurodegenerative disease. The worst part is that there was no known cure or possible treatment. In few years, Jor’s health would deteriorate, and his life would end prematurely.
Such a diagnose is one of the hardest blows a parent can take. Doctors could offer no solution at all. We were devastated. After a while, we decided we would try to look for more information, we would go beyond that simple report we received from the doctors on the day of his diagnose.
We first contacted the Spanish organization MPS Lisosomales, an association that supports families that suffer similar pathologies in our country, Spain. They gave us a warm welcome and we became active members.
Later, on the Internet, we came across a report on Finnish television about Julia, a mother in Louisiana (USA), who managed to diagnose her two children with UGA by herself. Her struggle lead to the creation of a non-profit foundation, the Rare Trait Hope Fund, that raises money to find a cure for all children that suffer this disease.
Through Julia we met Barbara and her daughter Makeda in Canada, Stephanie, Stephan and their daughter Hermance in France, Neeraj, Vandana and their daughter Trisha in Australia and a few other families. In short time we had found a host of parents, all over the world, united to save their children.
Since then, we are working with the Rare Trait Hope Fund to help fund clinical work in gene replacement therapy to cure the disease. These work is intended to take place soon.
In the search for support and funding we have met people close and far, who have shown their solidarity by sharing our campaign, donating for AGU cure development, or by simply offering words of encouragement. It has been a painful journey so far, but also a thrilling one, fueled by the deepest love and hope. This venture is capable of transforming everyone who joins into better versions of themselves.