Living with Sanfilippo Syndrome | About in English

Little Leo plays happily in the gardens of the Patio de los Naranjos at the cathedral. His grandmother Mercedes lives in Calle Císter and it is one of his favorite places, where he likes to run, jump and sing.

It’s perfectly normal for a boy who will celebrate his fifth birthday on October 20, but for this family, this date is almost as important as that of March 2020 when Leo was diagnosed with Sanfilippo syndrome, a rare degenerative disease whose victims rarely survive. beyond adolescence.

While playing with water in the gardens with his grandmother and his uncle José Antonio, his parents remember what that moment of diagnosis was like: “You start looking for information, thinking ‘my God, what is this? but we were lucky because Leo has type A and we are taking part in clinical trials. He is number 14 of the 20 children who are undergoing this experimental treatment. Normally when they diagnose this disease they just tell you to go home and love them as much as you can until it’s over. We have the uncertainty of having to see how it goes, but without losing sight of what could happen,” Leo’s mother Mercedes Carmona tells us.

Leo with his parents, David Hernández and Mercedes Carmona. /

SALAS OF SALVADOR

Sanfilippo syndrome is a disease caused by an inherited degenerative mutation and around 70 children in Spain currently suffer from it. It is usually noticed when the child is around one year old and symptoms such as walking and speech delay become evident, although they become more pronounced from the age of three.

“When he started in kindergarten he had a lot of ear infections, a big head, a very swollen stomach, hair on his back and speech problems, that’s when I started seeing doctors and lobbying them, and then they diagnosed him with this disease. . A lot of people have never heard of it. We want everyone to know it exists, so that cases are caught early,” explains Leo’s mother, as her son continues to run and sing with his grandmother and uncle outside the cathedral.

“He’s very mischievous,” his mother said, watching him from afar. It’s obvious now that one of the most noticeable symptoms in this little boy is hyperactivity, along with impulsiveness and some speech problems.

“He sleeps better now, about 10 hours a day. Some children also go three days without sleep. And he has a bit of a temper, you can see that he is sometimes aggressive. He had several operations on his ears, so it was difficult for him to learn to speak,” says Mercedes, with her usual smile.

Then his uncle José Antonio, who obviously enjoyed playing with Leo, tells us about his idea of ​​a benefit concert to raise funds for research on Sanfilippo syndrome.

“It occurred to me one day that it would be a good thing to do, and I talked about it to a friend, Pablo Antúnez, who is the bass player of Sorry Kini. And then one day he called me and told me that he had obtained the authorization and a place to hold it, ”he explains.

This concert took place at the Caja Blanca last Saturday, with Sorry Kini, Rubio Americano and the singing school Alba Bermeja. It was a sale.

Two children from Malaga

“We knew there was another little boy with Sanfilippo Syndrome here in Malaga, but they couldn’t tell us anything about him because of data protection rules,” Mercedes explained. But thanks to this concert, they got to know him. His name is Aray and he is four years old.

“Three days after the details of the concert were published on Instagram, a couple contacted me because their little boy also has the disease”, says José Antonio Carmona.

This is how the families got to know each other, thanks to the benefit concert.

Aray, 4, with his parents Antonio Morales and Marina González /

ON

The other couple are Antonio Morales and Marina González, and from their home in Coín they told SUR their son’s story:

“Aray was diagnosed more or less at the same time as Leo, but we’ve only just met. It’s a relief because normally no one understands what you’re going through. Mercedes and I talk a lot now and we share things. Thanks to her, I joined a children’s group with Sanfilippo here in Spain. It’s so difficult… the life lesson I learned from that child is a lesson that no one will ever teach me again” , said Marina, moved.

This family also fights to allow Aray to enjoy life and live as long as possible.

“He’s like lightning, he keeps running. At the moment he is fine, but when the time comes it will be so difficult. He has type B of this disease and no clinical testing is done for it, so there is no experimental treatment for Aray. And its life expectancy is short. He might not live to be a teenager,” Marina said.

Aray attends a special class at his school, but Leo is currently in a regular class, “although next year he might need some special education,” Mercedes says.

Speech therapy, occupational therapy, specialized tutoring and other such activities fill the day for these two little boys and their families, who will never give up the fight. Because Leo and Aray, growing up and playing like other kids, are having a blast.