Borja

Born August 2009 | La Puebla del Río, Spain

Living with MPS IIIA

He goes around town and people tell him he has an eternal smile. If you go with him anywhere, he's having a good time. He loves people. He loves to hold their hands.”  —Angeles

Borja grabs his guitar and faces his father under the blazing Mediterranean sun. As his father, Borja Sr., begins to strum and the chords start to flow through the breeze, Borja joins in enthusiastically, mimicking his father's adept finger-style and adding rhythms by slapping the strings and body of his own guitar. His father releases his voice into the choruses of flamenco lyricism, a tradition of song bound to the earth they stand on. Borja bobs his head energetically as his father's duende reverberates with intensity and evokes the history of song from the region where guitar-music was born. Angeles, Borja's mother, squeezes in to embrace her son, and fill out the vocal lines, adding depth and harmony to the family’s rendition.
    

“My boyfriend’s family is well known in Sevilla for singing Sevillanas: traditional songs,” says Angeles. “And Borja loves to play the guitar with his father. He also loves to sing.” His father works in custom home renovation by day, but has gained notoriety playing music around town on the weekends. His son seems similarly inclined in his performative tendencies. When a tennis tournament came to town, Borja was quick to grab the unattended microphone in between matches and start singing to the whole crowd. “He just started singing Ave Maria,” recalls Angeles, and the whole family laughs. Borja’s fearless desire to be heard exists in the face of his condition, which threatens to silence him. Five years ago, he was diagnosed with Sanfilippo syndrome type A, or MPS IIIA—a fatal disease with no current treatment or cure. One of its chief cognitive impairments includes the loss of speech. “He used to speak,” says his father. “He used to be able to sing complete songs, but now that's not possible.” Even as Sanfilippo threatens to take away Borja's voice, his affable nature is evoking new lyricism from his father. “I wrote a song for Borja,” he says. “He is an inspiration to me.” Borja continues to instill hope in his parents despite his disappearing abilities and the inevitable loss that comes with this difficult diagnosis.

“Borja has always been a very happy child,” says Angeles. “Of course, this is still the case, but when we heard the news, it really did change our lives completely.” Borja was diagnosed in 2012 as a total shock to his family who, up until then, had been privy to a healthy and happy toddler. “I thought he was normal,” says Angeles. She did notice that Borja was a little hairy for a boy his age and he seemed to have trouble swallowing. The family was referred to a specialist in dysmorphology, who noticed Borja’s hair, his abdomen, and the unusual buildup of mucus in his throat and tested for a number of conditions. Six months later, Borja was diagnosed with MPS IIIA.

 

“The truth is: I wanted to die in that moment,” recalls Angeles. “First of all, you think that it's not true—that he has this illness. You think it has to be less severe than what they say.” Since the diagnosis, the family has pushed to give Borja the best life possible. “We have a lot of strength—a lot of desire to keep fighting. He motivates us for everything, gives us strength for everything.”

Borja’s positive energy alone would not be enough. Finding support was key to the family getting to where it is today. “My sister helps a lot,” says Angeles. Her sister Ana helps take care of Borja regularly to balance the family’s busy schedule. “I told her that with her support, I can't give up.” Angeles is dutifully thankful for the assistance. Borja’s grandmother, Aurora pitches in too; often watching over Borja in the afternoons while Angeles tends to her newborn, Confalo.

 

When the couple got pregnant with their second son, there was an urgent desire to find out if they had another boy affected by MPS IIIA. “At 12 weeks into the pregnancy, I took a test to see if my new son would be affected,” says Angeles. “They said no.” The relief was enormous, and Confalo was born a healthy younger brother. The couple agreed that if Confalo had tested positive for Sanfilippo, they would’ve terminated the pregnancy. “We didn’t want it to affect Borja,” she says. “We wanted to give him our attention, because Borja is the best. I would do it all again if I could.”

The daily routine wears the couple out at times. “We have no time for anything else now,” says Borja Sr. “One of us has to work, while the other is with the children, so we're always apart.” The two hope to get married, but time and money have been in short supply. “The economy isn't good right now,” says Angeles, reflecting the daily reality of many in Spain’s rural south. However, this has done little to deter their devotion to each other. “We are more solid together because of him,” says Angeles with confidence.

 

Still searching for support, the family reached out to Sanfilippo MPS España, a patient organization which guided them toward resources. It was instrumental in connecting them to other families with the same or similar conditions. “I could ask why me? Why us?” says Angeles. “There was comfort in that.” Determined to foster community support for her son, Angeles organized a charity run in her small town of La Puebla del Río, Andalusia. “I found people to be very supportive.” Of the 12,000 residents in her town, 2,000 turned out for the event. The incredible outpouring of support was music to this family’s ears and helped secure Borja a community of his own.

“He goes around town and people tell him he has an eternal smile,” says Angeles. “If you go with him anywhere, he's having a good time. He loves people. He loves to hold their hands.” Borja's vivacity is effluent and draws attention to his fascination with the world. “He loves soccer; he loves music; he loves bullfighting; he loves semana santa (holy week before Easter).”
    

Without warning, Borja is off at full speed. With long strides he runs toward the setting sun—Ana, his aunt, is in fast pursuit. As she manages to get within an arm’s length, Borja’s joyful laughter grows louder. He suddenly changes course to avoid her grasp, evading capture and taking off again. Though he moves with a unique wobble, Borja is quick. An even louder explosion of laughter makes it clear that this is one of his favorite games. His parents watch on with amusement.  

“Sometimes I'm a little stressed,” says Angeles about her son's future. “My worry is about time,” she says. “Because the more time that passes, the more difficulties we'll have to save my son.” The whole family looks forward to advancements in treatments in hopes of saving Borja. “I want him to have a future. I want him to survive.”
    

Borja returns to the table after Ana has given up the chase. He breathes heavy and sits down again next to Borja Sr. His father’s guitar is never far away it seems, and Borja Sr. picks it up and begins musing with his fingers. A melody takes shape and he bursts again into song, serenading his son. “We have been by your side,” he sings. “A whole life singing and with the same excitement as the first time that the Muse loved us. We sing with pride to noble Andalusia. As much as the world is big, bigger is my land. A whole life singing and giving our heart.”

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