Jakob Guziak was diagnosed with ACA SCID or severe combined immunodeficiency at just 10 days old, which meant he didn’t have an immune system. Due to this, his family had been living in a “bubble,” with minimal interactions with others to protect him. However, in May, the family will be heading to UCLA in California for a stem cell treatment trial. The treatment involves transforming Jakob’s cells with a virus and then putting them back into his body after chemotherapy. The family hopes that this treatment will transform Jakob’s bone marrow, eliminating the need for monthly plasma transfusions and strengthening his immune system.
The family is optimistic that the stem cell treatment will give Jakob a new lease on life. They see this treatment as a light at the end of the tunnel, offering hope for Jakob’s future. While he will always be considered a transplant patient and may have some lifelong complications, the family is excited about the prospect of Jakob being able to live a more normal life. This includes thinking about things like school and making new friends, activities that were previously not possible due to his condition.
Jakob’s family is also advocating for other parents of children with rare conditions. They have partnered with RareKids-CAN to share their experiences and raise awareness about the challenges faced by families dealing with rare diseases. They believe that the perspective of families directly impacted by these conditions is essential in the development of clinical trial and research platforms. The family hopes that their story will highlight the need for more gene therapy treatments to be made available in Canada, so that families facing similar challenges can have access to life-saving therapies.
Having gone through a complex journey themselves, Jakob’s family understands the importance of gratitude and support. They acknowledge the privileges they have in being able to seek treatment in California and hope that more families in similar situations will have access to the same opportunities. The family is also looking forward to planning activities they have never been able to do before, such as sending Jakob to school and meeting family members whom he has not had the chance to be around. Through their journey, they hope to inspire others facing similar challenges to stay positive and hopeful.
Overall, Jakob’s family is excited about the possibility of a new life for him after years of living in a protective bubble. The stem cell treatment trial in California offers hope for Jakob’s future and the opportunity for him to lead a more normal life. The family’s advocacy efforts aim to raise awareness about rare diseases and the need for more accessible gene therapy treatments in Canada. By sharing their story and experiences, Jakob’s family hopes to inspire others facing similar challenges and to support the development of research platforms that incorporate the perspectives of families impacted by rare conditions.
