The parents of a 10-year-old boy suffering from a rare disease have compared it to going through mourning as they “buried the dream of a healthy son” and woke up to the new reality of the struggle to make his life as normal as possible.
Nico Aquino was born on 12th April 2010 and was diagnosed with K(lysine) acetyltransferase 6A (KAT6A) at eight years of age.
KAT6A is a rare syndrome resulting from a mutation in the gene of the same name and affects only about 250 people in the world
His parents work tirelessly to ease Nico’s suffering and make his life fulfilling but COVID-19 has made this next to impossible.
Nico has not been able to attend school in Utrera, a town in the southern Spanish province of Seville since pandemic lockdowns started.
His mum, Agueda Perez, 44, explained to Real Press that Nico is enrolled in a normal school where he is attended by a special assistant shared across six other classrooms.
She said: “That assistant takes care of him for everything, but my son cannot stand to wear a facemask and the assistant is also busy working in other classrooms – so his health security is not guaranteed and we decided we could not send him to school.”
Nico was the first case of KAT6A diagnosed in the Andalusia region and only around 20 others suffer from the disease in Spain.
The disease causes problems such as microcephaly, epilepsy attacks, sleep disorders, eating disorders, language problems and mobility issues.
Nico’s family began to suspect something was wrong when at only two months of age his head was unusually small. They later discovered this was due to the microcephaly.
Doctors initially focussed simply on each symptom, despite his parents’ concerns that Nico was suffering from a genetic disease, and it wasn’t until eight years later that KAT6A was diagnosed.
“It was very hard,” Agueda said of the discovery. “It is like a mourning.
“You bury that dreamed-of son and face the new reality.”
She remembered they faced a lot of fear in the beginning because the rare disease had very little research and life expectancy was unclear: “Due to the lack of information, you get even more scared of something happening to him.”
She was forced to leave her job as administrative assistant in her husband’s business while he continued as a freelancer, but later established a foundation called Super Autenticos in order to collect money for research into the disease.
The research is being conducted at the Pablo de Olavide University, led by Professor Jose Antonio Sanchez Alcazar, with the goal of finding personalised treatments for sufferers of mitochondrial diseases, cellular dysfunctions that also affect KAT6A sufferers.
The project, called Mitocure, needs EUR 126,000 to continue its research and Nico’s family is working hard to collect enough funds to allow it to continue.
But the coronavirus crisis has taken a huge toll on fundraising and the research project requires EUR 42,000 (GBP 36,241) each year just to keep running.
Agueda explained that the lockdowns and associated restrictions have meant fundraising events are not possible: “So, we decided to sell bracelets online.”
The first phase of the research project that gathers information about the disease has now finished and the next phase is focused on the search for treatments.
The main hope, explained Agueda, is to improve the quality of life for the kids – an actual cure for KAT6A is still just a pipe dream.
Meanwhile, Nico and his family are trying to live a normal life and he continues his many therapy sessions.
“He is a cheerful boy,” said his mum. “He loves music, any kind of music, and even learns the lyrics of the songs and sings with his own language.”
He also loves dressing up and his favourite outfit is a Superman cap that goes everywhere with him she adds. But life is tough when you are disabled and Nico must learn to navigate a society that is not geared for him.
One example said Agueda, is a new playground installed near to their house. “It includes a swing for disabled kids, but it is very uncomfortable and difficult to use.” This makes it rather pointless.
She said that disabled kids suffer terribly through being rejected by able-bodied kids in all forms of play. Nico suffers less because he is able to use some playground equipment under supervision, but many other disabled kids do not have that chance.
“We end up dying socially,” she adds with sadness. But at least their research hoes are still alive and Nico may one day see his quality of life improved thanks to it.