our inspiration
LUCA'S STORY
Luca was born October 7, 2021 and has already gone through more in his few years of life than most do their entire lives. He's strong, resilient, silly, smiley, and the cuddliest little guy.
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He's truly one in a million. Luca is 1 of approximately 60 diagnosed world-wide with SPATA5L1 Related Disorder.
the first six months
The first 6 months of Luca's life were normal. Learning to hold his head up, rolling, watching Hey Bear. At his 6 month check-up his parents realized he wasn't meeting some of his milestones. He wasn't reaching for toys, tripod sitting, or pivoting.
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Luca started physical and occupational therapies, but at the time they didn't know anything else was wrong.
the first ER visit
At 8 months old they started noticing Luca having weird episodes where he'd drop his head and arms, and smile. At first they weren't too alarmed, but the episodes became more frequent so they took Luca to a Pediatric ER, where unfortunately their concerns were dismissed.​
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The next morning Luca's pediatrician rushed them to Arnold Palmer Children's Hospital in Orlando where they admitted Luca with the suspicion of seizure activity.
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They stayed in the hospital for 3 days where Luca had his first 24hr EEG, an MRI (found to be normal), and was officially diagnosed with epilepsy. After the diagnosis, they looked at old videos and realized he was probably having seizures as early as 5 months old.
the ketogenic diet
His neuro team started him an an anti-seizure medication and sent them home. Unfortunately the first medication did not work. Or the second. Or the third. Luca was then diagnosed with intractable (hard to control) epilepsy.
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Luca was referred to genetic testing. An Epilepsy Panel and Microarray found nothing. Luca then had a spinal tap, but again nothing was found.
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At this point Luca's seizures were still not under control, and the next option besides continuing to try random medications was to start Luca on a medically-supervised Ketogenic Diet.
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The ketogenic diet is found to be an effective treatment for epilepsy. The keto diet is strict & in order for Luca to take enough calories & water to continue staying healthy, he had to get a feeding tube.
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In December 2022 Luca started the keto diet, and as of February 2023, he has seen about a 50% reduction in seizures!
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Since no root cause had been found for all of Luca's problems, the family decided to move forward with a Whole Exome Sequencing.
answers & action
Since no root cause had been found for all of Luca's problems, the family decided to move forward with a Whole Exome Sequencing.
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In February 2023 the Whole Exome Sequencing results came back.
Luca was officially diagnosed with SPATA5L1 Associated Disorder. He has two mutated copies of the SPATA5L1 Gene.
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As of 2021, there were only 47 reported cases of SPATA5L1 Associated Disorder world-wide. There isn't much known about it.
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SPATA5L1 Related Disorder is specifically related to Bilateral Sensorineural Hearing Loss. Luca's parents had no reason to believe he had hearing loss, he had passed his newborn screening, but knew they had to get him tested due to the diagnosis.
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In April of 2023 Luca had a sedated ABR test. They were shocked to find out Luca had Bilateral Severe to Profound Hearing Loss. In May of 2023 Luca received hearing aids! He's received his first cochlear implant in November 2023 and it was activated December 2023.
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Since there isn't much known about the condition, Luca will write his own story.
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After Luca's official diagnosis in February, his parent's started doing research. They found a whole group of families with a related condition called SPATA5, but couldn't find any SPATA5L1 families.
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They came to the realization that there just wasn't any resources out there for SPATA5 or SPATA5L1 families and no one dedicated to research.
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So, the family started The SPATA Foundation.
