Charlie and Megan Hieb would do anything to help their daughters, Nora and Lucy. They would truly go to the ends of the earth to ensure that their daughters are always loved and taken care of. So when Lucy was diagnosed with a rare neurodevelopmental disorder called CTNNB1 Syndrome, the parents knew that they had to take action. According to an article first published on CBS Minnesota and later on MSN, the Hieb family jumped into fundraising.

As many people within the rare disease community know, it can be difficult to push for research. Some pharmaceutical companies do not want to get involved in rare disease drug development as it is not as profitable and communities are smaller. However, this research is crucial in advancing our understanding of rare diseases and potential treatments. As a result, fundraising for research often falls into the hands of families.

In this case, Charlie and Megan were searching for support after Lucy’s diagnosis. They didn’t know what the future would look like, and fear began to set in. Then they found the CTNNB1 Foundation, an organization whose purpose is to improve the lives of children diagnosed with life-threatening and life-limiting rare genetic mutations. Part of this mission hinges upon research into gene therapy solutions.

To assist with the cause, and the search for a gene therapy treatment and/or cure, the Hieb family decided to raise money for the CTNNB1 Foundation. They launched a GoFundMe which has so far raised $107,407. If you’d like to donate to the cause, you may do so here.

What is CTNNB1 Syndrome?

The CTNNB1 Foundation explains that CTNNB1 syndrome is:

a severe neurodevelopmental disorder caused by disruption of chromosome 3p22.1 of the CTNNB1 gene. The first cases of CTNNB1 syndrome were reported in 2012, so there are probably many more undiagnosed cases living with this disease.

In fact, the CTNNB1 Foundation shares, CTNNB1 variants are the most common cause of cerebral palsy misdiagnoses. An estimated 1 in every 50,000 children globally has CTNNB1 syndrome. However, only around 300-400 people have been diagnosed so far. Typically, the gene variant occurs de novo (meaning that this disorder is not inherited from parents).

Symptoms of CTNNB1 syndrome typically appear in infancy or early childhood. At the moment, we know that symptoms and characteristics associated with this disorder include:

• Developmental delays
• Intellectual disability
• Problems with balance and coordination
• Hypotonia (low/poor muscle tone)
• Scoliosis
• Muscle spasticity in the arms and legs
• Gross motor delays
• Foot deformities
• Speech or language delays
• Congenital heart disease
• Microcephaly (an abnormally small head size)
• Nearsightedness or longsightedness
• Aggression or hyperactivity
• Strabismus