Dear newly diagnosed family,
Welcome to the CTNNB1 family. Though none of us would have chosen to be here, our community will support, care, teach, inspire, and walk with you on this journey. We have all experienced the world-shifting moment that we received a CTNNB1 diagnosis and the emotions that precede and follow it. Though your life may now look very different than you imagined, there will be unique blessings sprinkled in and beautiful connections to be made, should you open yourself to them.
Most importantly, please remember that you are not alone.
So what now? Below are some steps and information that many of our CTNNB1 families have found helpful.
LEARN
The first step in processing a CTNNB1 diagnosis is learning about it. CTNNB1 Syndrome was first discovered in 2012. There are currently about 430 documented cases, though its actual prevalence is estimated to be more than 200,000 cases worldwide. The syndrome is caused by a variation of the CTNNB1 gene, which affects the body’s production of a protein called beta-catenin. This protein is important for embryonic development and cell function. Most documented variants are “de novo,” meaning new or not inherited. CTNNB1 Syndrome shares many symptoms with Cerebral Palsy. In fact, it is the most frequent genetic variant among those diagnosed with Cerebral Palsy. The features of CTNNB1 Syndrome vary by the individual, but can include some or all of the following: developmental delay, movement disorders, speech/language difficulties, behavior problems, altered muscle tone, sleep issues, microcephaly, impaired vision, and feeding difficulties. Published studies about CTNNB1 Syndrome can be found at https://curectnnb1.org/research/publications/. Therapies can vary widely and you may find that you often know more about what works for your child than your medical team does. Our parents’ Facebook page (www.facebook.com/groups/787268954682708/) is especially helpful in sharing this kind of information.
PARTICIPATE IN RESEARCH
CTNNB1 Connect and Cure has partnered with teams of leaders in the field to better understand CTNNB1 Syndrome and to find treatments. We have established patient registries, natural history studies, and biorepositories. Data is collected in multiple ways, including surveys, clinical assessments, and review of past medical records. Your participation is essential for developing better care guidelines and progressing the development of treatments, including the ability to run clinical trials. The current list of research opportunities for CTNNB1 families can be found at https://curectnnb1.org/research/participate-in-research/.
MAKE A DIFFERENCE
The largest impacts our families can make are by spreading awareness and by fundraising. Because CTNNB1 Syndrome is newly discovered and very rare, it is up to us to make it known. One population that we need to reach are individuals who have been diagnosed with Cerebral Palsy. We also want pediatricians and pediatric specialists to be aware of CTNNB1 Syndrome and the need for earlier, accurate diagnosis through genetic testing. To help with this initiative, please contact ashley@curectnnb1.org. We also need funding to keep the research moving forward. Several CTNNB1 families have organized wonderful fundraising events!
GET CONNECTED
In addition to following/subscribing to our accounts at the bottom of the site, please listen and subscribe to our CTNNB1 Connect & Cure Podcast, hosted by CTNNB1 mom and board member, Annie Wood. We also highly recommend the award-winning podcast Once Upon a Gene, hosted by CTNNB1 mom and board member, Effie Parks.
Our board is always looking for ideas and help with current tasks! You can find the list of board members as well as their contact information at https://curectnnb1.org/about/team/. Together, we can move mountains and create better lives for our loved ones with CTNNB1 Syndrome. We are sorry you have found yourselves here in this frightening and unexpected place, as we all were at diagnosis, but please know that we welcome your family into the CTNNB1 family with true understanding and warm embrace.
Sincerely,
CTNNB1 Connect & Cure