<\/p>\n
Finn Alford, with his mother Jossey, has continued to make progress in response to treatments after the effects from a rare genetic condition nearly claimed his life 2 years ago.<\/p>\n
Bob Brownne\/Tracy Press<\/p>\n
At the age of 4 Finnegan Alford is at the forefront of a campaign to gain recognition for the rare genetic condition that nearly claimed his life.<\/p>\n
While he can\u2019t speak of the progress he\u2019s made, his mother, Jossy, sees it every day and knows how much fight her son has in him. It\u2019s a condition his parents didn\u2019t notice in the first few months of Finn\u2019s life, but once they noticed something was wrong they made sure to get a proper diagnosis.<\/p>\n
\u201cAround 4 months old, we kind of noticed delays, but in a typical setting, every doctor, it’s kind of common with the rare disease community that there’s a lot of, \u2018Just go ahead and wait, let’s see what happens,\u2019\u201d Jossy said.<\/p>\n
\u201cAnd then around 6 months, he kind of went into a tic, which looked like a seizure. So we went to the emergency room,\u201d she said. Jossy had video of the incident and insisted on not just an MRI, but full genetic testing.<\/p>\n
\u201cWe got the diagnosis July 8, 2022 (he was 10 months old at that time), that he did have the CACNA1A genetic mutation and then a couple weeks after that we got to really learn what that meant.\u201d<\/p>\n
Calcium voltage-gated channel subunit alpha 1A, abbreviated as CACNA1A, is the name for a protein within a particular gene. According to the CACNA1A Foundation (www.cacna1a.org) it is a gene that regulates communication between neurons in the brain. Variants in the gene can cause a gain or loss of function, which can result in epileptic seizures, effects on muscle strength, coordination and balance, and neurodevelopmental differences.<\/p>\n
\u201cWe didn’t have to start medication or anything, but we did have an answer,\u201d Jossy said. \u201cFor almost a full year, I did tons of research, hoping for the best, but expecting the worst. All of the therapies we could try, what could be alternative methods for controlling seizures if we got to that point.\u201d<\/p>\n
For the next year or so the family tracked his developmental milestones, with encouraging results for a healthy, growing toddler during that time.<\/p>\n
He had a status epilepticus seizure when he was about 19 months old, but recovered after a trip to the emergency room, and his mother figured he had been through the worst of it.<\/p>\n
\u201cWe had — you can see some of the pictures around the house — a fairly typical toddler. And then shortly after his second birthday, he went into a prolonged status epilepticus.\u201d<\/p>\n
He apparently had come down with the rhinovirus and developed a fever of about 101 degrees. According to the U.S. Centers for Disease Control, rhinoviruses typically cause illnesses like the common cold, but can be more serious in individuals with weakened immune systems.<\/p>\n
Finn had been staying with his grandparents, and Jossy said her father-in-law called her at 5 a.m. because something was definitely wrong, and it wasn\u2019t just a fever.<\/p>\n
\u201cWhen I got there, he was, well, like a typical seizure, what you expect. They’re called tonic-clonic. And he was not coming out of it, so we rushed him to Sutter here in Tracy.\u201d<\/p>\n
By then he had stopped breathing, and while the doctor at Sutter Tracy was able to stabilize his condition, including intubating him, the doctor also recommended that Finn be transferred to Lucille Packard Children\u2019s Hospital at Stanford University in Palo Alto, which would be better-equipped to treat his condition. There was no room for him at the time, so he went to a hospital in San Francisco until a bed was available. By midnight Lucille Packard\u2019s Children\u2019s Hospital was able to admit him. He was there for 2 months.<\/p>\n
\u201cFinn was in and out of four different drug comas. He was intubated for 28 days. We tried a lot of different anti-seizure medication. We were basically discharged with him seizing 90% of the time,\u201d Jossy said.<\/p>\n
\u201cThere was one point where they weren’t even sure he was going to be able to be intubated due to the extensive brain injury. But he proved them all wrong. He got off the ventilator just fine.\u201d<\/p>\n
But he was no longer the active toddler. He didn\u2019t cry or turn his head and he cannot see.<\/p>\n
\u201cSo we had a couple months of mourning, the loss of our child and the fear that we weren’t going to even be able to keep the one we were sent home with,\u201d Jossy said. But Finn wasn\u2019t giving up. In the first 6 months after being released he continued to show signs of recovery.<\/p>\n
\u201cFinn was showing that he was only getting stronger,\u201d she said. \u201cNow we were looking at all the alternatives, and I’m talking all the alternatives: biofeedback, classical music therapy, frankincense, to try to break the seizures.\u201d<\/p>\n
He has responded well to dynamic movement intervention, a type of physical therapy that their insurance does not cover. Finn responded to it right away when his family tried it last November.<\/p>\n
\u201cThey put them in a robot suit, a trainer called the Trexo that helps him walk. So we saw him take steps and it tracks what his engagement is. When he first started, it was 15%. The last day he used it, it was 40%,\u201d she said, adding that he showed even more progress when a local chiropractor began treatments.<\/p>\n
Now Jossy is looking for those milestones for her son all over again.<\/p>\n
\u201cWe heard him cry for the first time in a year. He drank water from a straw. He swallowed things that we were told, never. We watched him when they were working on his physical therapy, attempt to take steps to get away from them. We watched him initiate some crawling movements.\u201d<\/p>\n
Meanwhile she continues to stay in contact with other parents through the CACNA1A Foundation, comparing experiences on what works, and ultimately what treatments will enable their children to overcome their physical and neurological challenges.<\/p>\n
It\u2019s how she learns of new paths toward treatment, like NeuroSolution in Texas, a clinic that has had success treating genetic epilepsies and stopping seizures.<\/p>\n
\u201cWe’re trying to get over there to see if that might be something that helps,\u201d Jossy said, adding that while she knows that his progress can suddenly be taken away, Finn constantly shows reasons for his family to remain confident.<\/p>\n
\u201cWe are defying the odds. We are paving the path, hopefully.\u201d<\/p>\n