Join JP’s Journey: Intensive & Conference

JP is a wonderfully loved little boy with a contagious laugh, fighting spirit, and born with a rare genetic disorder called CTNNB1. Jack is our third boy who started showing signs of delays around 2 months when he struggled with feeding and microcephaly. Over time, Jack struggled to meet developmental milestones such as sitting up on his own, truncal hypotonia (weakness in his core) and spastic diplegia (muscle tightness in his extremities). More time passed and Jack showed more delays with crawling, not be able to get to a sitting position independently, not walking, and not talking. At 8 months of age, we connected with Michigan’s early intervention program. We began physical therapy, began to see a neurologist, a physical medicine and rehabilitation specialist and occupational therapist. But we still didn’t have an answer to what was going on. As parents, our heart felt like it was breaking every day not knowing how to best help our son. It is a parents worst nightmare to feel so helpless when it comes to your child. Many (and I mean MANY) tears were shed and countless nights spent reading research to try and find our own answers. Jack has endured spinal X-rays, skull ultrasounds, EEGs, brain MRIs, blood draws, retinal eye exams, and so much more. At 15 months old, Jack was given a preliminary diagnosis of cerebral palsy. In working with our care team, we proceeded with genetic testing and in July 2024 at 18 months old we learned Jack’s true diagnosis; CTNNB1.

Jack is only one of 430 in the world diagnosed with this condition. The CTNNB1 gene provides instructions for making a protein called beta-catenin. This protein is vital for brain and tissue development. Every case of CTNNB1 is different in its presentation. To learn more about CTNNB1 you can learn more at the CTNNB1 Connect and Cure organization: https://curectnnb1.org. Now that we have some answers for Jack, our next chapter begins.

The first fundraising hope is for a DMI intensive:

Jack has been receiving PT and OT twice weekly since 9 months of age. He has made amazing gains. Many in the CTNNB1 community have found a DMI (Dynamic Movement Intervention) intensive impactful in making strides with basic necessary skills to function such as movement and communicating. Jack has now learned to sit up independently, crawl on his own and is learning to use a gait trainer to help with upright mobility. We are hoping a DMI intensive therapy- which is a week long jam packed full of speech, PT and OT for multiple hours a day- is just the kick JP needs to solidify his upright mobility and independence. I have a lofty goal of getting Jack to walk independently and I know this is a far reaching goal for him- some children with CTNNB1 will never walk. Learning to walk would be life altering for him. The way I think about it, every exercise and stretch I do with Jack is trying to pull him out of a lifetime in a wheelchair. He may still need a wheelchair for long distances or times of illness when he is fatigued, but the skills JP is learning now will literally change his future.

DMI Intensives range from 1-3 weeks and vary in location (Chicago, Texas, California, etc). Due to the needs our family balancing other children- we found a location in Vancouver that will be 7-10 days long. This intensive ranges from $3,000-$5,000 with travel, lodging and the program cost itself. I hold space for hope that someday my son will have the same privilege of walking that so many of take for granted.

The second financial hope is to attend an educational, connecting and research conference next year:

The CTNNB1 Connect & Cure Organization is hosting a Family and Scientific Conference in June 2025. It's not just an event - it's a gathering of hope, progress, and unity that I simply can't miss.

Conferences like this serves as a lighthouse for all of us in the CTNNB1 community. It’s where we can be together as families and learn from the brilliant minds who are on the verge of breakthrough treatments for our children.

The journey towards gene therapy has been nothing short of miraculous, showing promise that was once a dream. Now, as the organization is gearing up for clinical trials, every moment, every insight gained from this conference, could be pivotal.

Imagine being in a room with families from around the world who understand your every challenge, your every hope—this is what fuels me to be louder, bolder, and more determined in our fight for Jack and every child affected by CTNNB1.

The support I have received has lifted me up since beginning this journey and I am full of gratitude every single day because of it. It is what fuels me to be the advocate I am. This fundraiser is not just about covering travel expenses - it's about being part of a moment that’s set to change the future for countless families, including those yet to face this journey. It's about being there, in person, to bring back knowledge, hope, and renewed energy to advocate.

Please, if you can, help with any donation. No gift is too small. Any funds donated over intensive and conference costs will be donated to CTNNB1 gene therapy manufacturing. Let's do this. For JP, for every child with CTNNB1, and for the hope of a brighter future that we're all fighting towards.

Thank you from the bottom of my heart for any support you can give.

With love and unstoppable hope,

Stephanie