Help us make a difference for SPG-47 Warriors:
Spastic paraplegia 47 (SPG-47) is an incredibly rare and progressively debilitating neurodegenerative genetic condition. Those affected often face challenges such as developmental delays, intellectual disabilities, speech difficulties, and seizures. Many of these brave children are born with diminished muscle tone, which over time turns into increased muscle stiffness and spasms. This often affects their legs, making walking an immense challenge, and in many cases, leading to reliance on a wheelchair. For some, this condition can even progress to affect their arms and torso, significantly impacting their daily life.
Did you know? Fewer than 15 cases of SPG-47 have been identified in the United States. Globally, there are only 249 known patients diagnosed with the AP-4 category, which encompasses SPG 47, 50, 51, and 52. Each of these subtypes arises from a rare genetic anomaly. In simple terms, a crucial protein isn't produced the way it should be due to this genetic change, especially affecting an essential region of the brain—the hippocampus. Recent research points out that this malfunction is linked to an imbalance in a vital compound called ATG9A.
What gives us hope is that since the manifestations and outcomes of these four subtypes are so alike, we believe that finding a solution for one can potentially mean hope for all. Join us in shining a light on SPG-47 and its counterparts. Together, we can raise awareness, foster research, and bring hope to these brave children and their families.
Dominik’s Journey of Resilience and Hope:
Dominik’s Journey of Resilience and Hope:
Born on March 1, 2021, Dominik's early days were filled with challenges. Little did he know, he’d be in the hospital two months before his birth for close monitoring of his and his mom’s health. Shortly after birth, he was whisked away to the NICU due to respiratory difficulties, jaundice, and low calcium levels. Ten days later, with medical attention and interventions, he finally made his way home. Yet, challenges persisted. Dominik battled milk intolerance, anemia, developmental delays, and more.
As time progressed, Dominik began to show signs of developmental delay by not reaching milestones. By August 2021 Dominik was hospitalized for the first time with RSV. Three months later he was back in the PICU suffering from 3 viral infections. Finally, one day before Christmas Eve 2021 Dominik suffered from his first febrile seizure and was hospitalized for 5 days. Because of the repeated medical emergencies, Dominik, Jessica, and Peter had genetic testing done. On April 22, 2022, Dominik was diagnosed with SPG47, on the two-year anniversary of the passing of his sister Mila who was tragically lost after 36 weeks of pregnancy.
Dominik's journey has been fraught with medical challenges, totaling six febrile seizures and a series of EEGs and MRIs. It’s been about an 18-month journey of trial and error to find medications to keep the seizures at bay. With febrile seizures lasting over an hour, they all resulted in ambulance rides and late-night hospital visits, since no rescue seizure medication could interrupt them at home. In addition, he's grappled with ear infections and chronic congestion which required surgical adenoid removal and ear tube placement.
Despite his medical journey, he is a hard worker and good-spirited in his therapies and interventions. Much of his progress is attributed to his intensive therapy regimen: 14 sessions a week, spanning physical therapy (PT), occupational therapy (OT), developmental intervention (DI), and speech sessions from early intervention. Privately, he's benefitted from DMI, MNRI, OT, Speech, and Craniosacral therapies. He has also completed 2 intensive sessions: 3-week full-time program at NAPA Center in Boston, with anticipation for more later this year. Dominik's also completed a 4 day MNRI intensive this past November and will be completing his second in March. In July he will complete a 2 week MNRI intensive in Poland. It’d be remiss not to mention that all of this progress would not be possible without the many dedicated family members and close friends who have babysat him, taken him to therapies, and given him all the help and support they possibly could.
As of today, Dominik can walk with support, cruise in his playpen, sit independently, and stand for 30 seconds on average. He is also learning how to use his AAC device, has a gait trainer, Nimbo walker, stander, braces and a compression vest. He can say things such as baba, mama, puh and mmbee. Dominik can identify where someone’s ear and nose is as well as point to himself to show that he is Dominik and sign for help. He is obsessed with his piggy bank toy and shape sorter. Dominik loves to give kisses, hugs, and hand shakes and if he could, he would fool around, run/walk, and laugh all day! He loves to eat (not very picky) and likes to sleep. And most importantly, he is a very happy boy who loves his family very much!