To celebrate Lily's 6th birthday, we want to give her the best gift we possibly can: a shot at a better life. A cure.

Lily's Story:

Lily was diagnosed with CTNNB1 syndrome at 1.5 years old after months of physical therapy, doctor's appointments, referrals to specialists, and diagnostic test after test. We finally got our answer from a Geneticist after completing a Whole Exome Sequencing test. The test revealed Lily had a mutation of her CTNNB1 gene, which was classified as "de novo" or a spontaneous mutation which occurred at conception. Meaning the syndrome was not passed down from my husband or myself. At that time, we were told Lily was only one of 300 reported cases, and that she would go on to have a number of potential issues including delayed speech, intellectual disability and an "unusual gait" when walking. We would eventually learn this was only the tip of the iceberg, and the beginning of a complex journey.

What is CTNNB1?

CTNNB1 syndrome is a severe neurodevelopmental disorder caused by disruption of chromosome 3p22.1 of the CTNNB1 gene. Common symptoms include intellectual disability, impaired motor skills, speech impairment, hypotonia with progressive hypertonia/spasticity, microcephaly, visual impairments and behavioral abnormalities like autism, aggression and sleep disturbances.

Why are we fundraising?

Because CTNNB1 Syndrome is relatively unknown, with only 430 reported cases in the world, it gets very little attention worldwide. For this reason, fundraising is a completely grassroots effort by families of children with CTNNB1 Syndrome. But, there is hope thanks to some amazing people.

The CTNNB1 Foundation has been focused on developing gene therapy for the past 3 years. This has included collaboration with one of the best researchers in the field of gene therapy (https://www.cmrijeansforgenes.org.au). Currently, there are enough tests to move to the next phase, which is manufacturing for toxicology and clinical testing. THIS is incredibly exciting news for families like ours, who had no hope in a cure when first diagnosed. This is all thanks to the monumental effort of the CTNNB1 Foundation. We are now raising funds to help the foundation produce enough doses for all those impacted by CTNNB1 syndrome. We are confident there will be a clinical trial, but this requires a great deal of funding. We need all the help we can get from our community!

Please share, donate if you can and help us cure CTNNB1! No amount is too small and EVERY single dollar counts!!

100% of the funds raised will go directly toward the CTNNB1 Foundation.

Love,

The Andersons

For more information about CTNNB1 and gene therapy: https://ctnnb1-foundation.org/ctnnb1-syndrome/