Abby is the sweetest and happiest little girl you will ever meet. One day after her second birthday, after 2 years of doctors appointments and different testing, we received her whole exome sequencing genetic results.
CTNNB1-related neurodevelopmental and vitreoretinopathy spectrum disorder.
This rare genetic condition brings profound challenges into her young life, affecting her neurological development and causing severe intellectual and physical disabilities. As parents, it is incredibly difficult to see her face such obstacles every day, but she is the strongest little girl we have ever met. She still squeals with joy and happiness every day and has a huge smile that will always melt your heart.
CTNNB1 Syndrome is a lifelong journey for Abby, impacting her ability to communicate, learn, and move independently. This diagnosis and the disabilities that have come along with it, have not stopped her! She continues to thrive and have amazing progress. We spend our days juggling our new "norm" including physical, occupational, speech, feeding and developmental therapies mixed in with school, doctors appointments, testing, and procedures. Next up will be appointments with neurologists/neurogenetics, a retina specialist, and developmental medicine.
The CTNNB1 community is now focusing on gene therapy, a promising avenue that could significantly improve Abby's quality of life, and others affected by this syndrome, by addressing the underlying genetic causes. This could potentially mean a completely different life for our sweet girl. One where she can run and play, feed herself, dress herself, talk and communicate, and so much more that we as parents tend to take for granted. As parents, we will do anything and everything we can for our children. That is why we are asking for donations in honor of our Abby boo.
To provide Abby, and others like her, with this life-changing treatment, we are organizing a fundraising campaign. By choosing “gene therapy” from the drop down box, your generous contributions will go directly to funding gene therapy, which is crucial for her development and well-being as well as her quality of life.
We truly understand the challenges many are facing, but any support—whether big or small— will make a meaningful difference in Abby's journey. Your kindness and generosity will start to help alleviate the financial strain on our family and bring us closer to giving Abby the best possible chance at a brighter future!
The research underway is extremely promising and give us so much hope for her future! Please consider donating or contacting us directly if you have any questions or wish to contribute in any way. Your support, prayers, and contributions mean the world to us as we navigate this difficult journey with Abby. We will never stop fighting for a better future for our little dragonfly!
From the bottom of our hearts, we sincerely thank you for your unwavering love and support for Abby!
Maggie and Carl
