LETSCURELUCAS THROUGH GENE THERAPY
Why Lucas?
Lucas lives with an ultra-rare genetic condition to the gene RBM28 that affects his entire body. It is so rare, there is no information about how it progresses, what his future may look like, or how much independence he may one day have. Some questions are especially hard to carry — we do not know whether his life expectancy is limited, or whether he will reach adulthood. That uncertainty stays with us every day. Right now, Lucas’s limitations affect nearly every moment of his life. He crawls or is carried to the bathroom. He must be lifted onto the toilet. In the mornings, he pushes his body with everything he has just to stand upright long enough for his pants to be pulled down. His core is too weak to hold himself steady on a regular seat. Stairs are particularly challenging. He can crawl up them, but it is dangerous — he slips. He cannot crawl down at all and must always be carried. Walking takes enormous effort. With a hand held, he can manage short distances, but it is slow and exhausting. A walker helps, but spasticity in his lower limbs causes his ankles to kick inward, often making him trip. When he becomes excited, the spasticity intensifies, pushing him onto his toes and causing him to fall forward without warning. Lucas’s body does not move the way most bodies do. Twisting to reach or grab something — especially while standing — is extremely difficult. His index finger is weak, so he avoids using it, making it hard to hold smaller or heavier items. Simple movements that other children do without thinking require constant effort, balance, and support. His speech is limited. While his family understands him, many people do not. He can express simple needs and moments of joy, but communication remains a daily challenge. Dressing himself is not possible without help — even sitting to lift a shirt over his head can cause his body to tip and fall without support. And yet, Lucas is joyful. He is determined. He wants to do things on his own. What brings Lucas the most joy — more than anything — is walking. Every opportunity to stand, to take steps, to move forward on his own fills him with pride. Even when it is hard, even when it takes everything he has, walking makes him feel capable. It gives him a sense of freedom, connection, and possibility that few other things do. What makes this journey especially heartbreaking is not just what Lucas faces today — it’s what we don’t know about tomorrow.Is Gene Therapy the only treatment option?
Yes. Unfortunately the current intensive therapy that Lucas does 5 days a week is only to preserve the skill he currently has. Gene therapy is the only treatment that will stop the gene from causing further damage to Lucas’s body. We do not know what this gene can do, but we do know it is progressive in nature, as we know Lucas has regressed and lost skill in the last few years. Once this gene therapy is developed it can be used for future children with this gene variant. With your help today you wouldn’t just be helping Lucas, but giving other children and families the hope to not hear “there is no cure”. You can be a part of that change. No matter how rare, or how many children are impacted, every single child should have access to life saving treatment.Thank you for seeing Lucas!
Every contribution helps move this research forward.
Every share brings us closer to answers.
Thank you for seeing Lucas.
Thank you for walking alongside us.
Every bit of support helps give Lucas more chances to do the thing he loves most — to walk forward into his future.