For most of his 10 years, Jacob has been a puzzle. Born prematurely, he faced challenges from the start. Diagnosed with Level 3 Autism and an unspecified developmental disability at a young age, Jacob’s life was marked by unanswered questions. His mother, Jen, always had a nagging feeling that there was something more going on—something that didn’t fit the labels and diagnoses they had been given.
Jen, a single mother with a limited support system and two young sons to care for, never stopped advocating for Jacob. “It was exhausting,” she recalls. “But I couldn’t ignore the signs. There were too many things that didn’t add up.”
Her persistence finally led her to a neurologist in 2022, where Jen and Jacob began the process of genetic testing, but the process proved to be an uphill battle.
Jacob with his younger brother, Cameron.
Initially, insurance denied coverage for the tests, creating a significant roadblock. After they were able to get approval, Jacob’s first swab was submitted, but the wait for results was long and stressful– ultimately, the family was informed that the test results could not be processed, and they would need to submit a new swab. Finally, in September of 2024, the results uncovered the diagnosis: Jacob had MPS IIIB, or Sanfilippo Syndrome, a rare, progressive genetic disorder that impacts the brain. However, for reasons unknown, the neurologist didn’t share this life-altering information with Jen until three months later, in late December 2024.
“When he finally told me, he said there was nothing he could do for Jacob. That this diagnosis was terminal,” Jen says. “I was devastated. I sat there, trying to process what he was telling me, and all I could think was: what now?”
For Jen, the news marked the beginning of a new mission. She was determined to raise awareness about MPS IIIB, knowing that Jacob’s story could help other families avoid the long road she had endured. “I know that we probably won’t find a treatment or a cure that can benefit Jacob in his lifetime,” she says. “But if our story can bring awareness, find a diagnosis for just one child, then I will feel like we have made a world of difference.”
Despite the heartbreak, there have also been glimmers of hope. Jacob’s diagnosis led Jen to the National MPS Society, an organization that provides support for families and individuals impacted by MPS, and works to award funding to researchers who are investigating treatments for MPS IIIB and other lysosomal storage disorders.
“Connecting with the Society has meant the world to me,” Jen says. “I finally feel like I’m getting help.”
Jacob and Ellie both have Sanfilippo Syndrome and became fast friends.
Jen also takes comfort in her connection with a nearby family whose daughter, Ellie, is close in age to Jacob and also has Sanfilippo Syndrome. The children have become quick friends, and Jen says that the opportunity to connect with another family who understands her journey so intimately has been transformative.
Along with finding new support systems, Jen has been able to secure resources for Jacob over the years that have benefited him immensely. For example, for the last year he has attended a specialized school where he receives one-on-one care tailored to his unique needs. Remarkably, Jen noted that Jacob’s mental regression, a hallmark of Sanfilippo Syndrome, appears to have slowed with the transition into this setting. Respite care and other support services have also provided some much-needed relief for Jen and her family.
While Jen treasures these bright spots, she remains focused on sharing Jacob’s story with the world.
“It has become my life purpose to share Jacob’s story, and to make people aware of MPS,” she says. “My son is wonderful, and I want them to see that—but I also want them to know that it took way too long to find a diagnosis, and that, had we known, we could have given him care that was more fit for his needs. No parent should have to go through what I have gone through—and no child should go ten years without the right support.”
Jen’s advocacy is a testament to her unwavering love and determination. And for Jacob, every day is a reminder of her strength and her purpose—sharing his light with the world, one day at a time.
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