Hope for Harper: Support Gene Replacement Therapy

Meet Harper, our favourite magical 6-year-old with a heart as big as her curiosity. She will connect with you and brighten your day with her sweet conversation starters asking “How was your day?” and “How was your sleep?”, or by complimenting you with an honest observation "I like your necklace" or “you have beautiful eyes!”. Harper is extraordinary in every sense, but she faces a unique challenge—a rare but natural genetic mutation known as CTNNB1 Syndrome

Harper’s medical journey began when she was 4 months old and by the time she was 20 months old, Harper’s parents, Tara and Scott were told that she would most likely not walk or talk and would have severe global and intellectual delay. She was officially diagnosed with Cerebral Palsy of unknown cause despite all diagnostic testing showing normal results. It took an additional 3 years of researching and requesting extensive genetic testing before they finally got their answer, ironically on April 1, 2022 - But, it wasn’t an April Fools Joke.

Only discovered in 2012, CTNNB1 Syndrome is associated with a gene of the same name and Harper is one of approximately 430 individuals known worldwide, and one of only 17 in Canada, affected by this rare condition. The spectrum of severity varies widely, making it impossible to predict Harper's outcome. Some children with CTNNB1 never learn to walk or talk, while a few others thrive. Harper falls somewhere in the middle, and the resources invested by her parents, have enabled Harper to make remarkable strides. Harper has learned to walk short distances with the help of leg braces and a walker and she finally began to communicate verbally just after her 5th birthday. Many kids with CTNNB1, including Harper, share common traits such as poor sleep patterns, difficulty with emotional regulation, violent outbursts, poor concentration and focus, learning disabilities, constant physical pain, and poor control of fine and gross motor skills. Harper is in Grade 1 this year and requires full time assistance to get her through her day, both at school and at home, including eating, dressing, toileting, moving about and all tasks at school. Harper has very little independence and the gap between her and her peers is widening.

Despite facing the unknown, Harper is on the verge of a breakthrough. The CTNNB1 Foundation, an international group founded in central Europe, has brought together a group of researchers, and scientists from all corners of the globe, who’ve developed a groundbreaking Gene Replacement Therapy to treat children like Harper. This therapy offers big hope for a brighter future. With amazing results in their initial testing, they are now ready to begin human trials.

In June, Harper along with her parents, Scott and Tara, will attend the 2nd International CTNNB1 Syndrome Conference, being held in Ljubljana, the picturesque capital of Slovenia in Central Europe, where specialists and families from around the world will gather to share the most up-to-date information and conduct the clinical evaluations and assessments on participating children, aptly named the Dragonfly Study. Led by world renowned experts in genetic research, gene replacement therapy and Oxford University, this initiative aims to create a baseline for groundbreaking gene replacement treatment which is set to be administered in early 2025.

While the costs for assessments and tests are covered, we need your help with flights, hotels, meals, and transportation. The event brings together 77 families and 20 neuro/genetic specialists to collect vital data, paving the way for the next phase of the trial, where participants will receive a one-time gene replacement therapy injection, where mRNA technology will be used to reprogram the damaged gene and replace it with a properly functioning one. While gene replacement therapy doesn’t guarentee a cure, it offers Harper the best chance to gain more independence and excel in life.

This life-changing therapy comes with a significant cost—$1 million USD per dose. The CTNNB1 Foundation tirelessly raises funds for these expenses and supports the dedicated doctors involved. After years of investing in Harper's therapies (upwards of $20,000 annually), Scott and Tara find themselves financially stretched, making it challenging to provide Harper with this unique opportunity.

To make this journey possible, we estimate the costs for the Slovenia trip to be around $12k. Additionally, as Harper grows, Scott and Tara face home modifications, including a ramp for Harper's accessibility ($15-$20k), a stroller/all-terrain aid for her mobility ($3-$5k), and ongoing care by Harper’s dedicated Therapy Team - Speech, Physio, Osteo, Somatic Neuro-reeducation - costs beyond insurance coverage.

We understand the enormity of this request and are deeply grateful for your consideration. Your support will not only contribute to Harper's chance at a better life, but will open the door for the treatment to become more readily available to many more children with CTNNB1 and allow Harper to become a member of an elite group of children who are paving the road and writing the books on gene replacement therapy. More and more children are being diagnosed every day with a variety of genetic disorders and gene replacement therapy is the best chance they have at a normal life so they can be independent and enjoy all the simple luxuries we sometimes take for granted.

Join us in making Harper's hope a reality.

Team Hope for Harper

All kids need a little help, a little hope, and someone who believes in them. -Magic Johnson -

*Follow and share Harper's Story on TikTok @hopeforharper6 and [email redacted]per - content coming soon!!