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Immediately after the birth of her fifth child, Andrea knew something wrong. At two days old, a pediatric ophthalmologist diagnosed her son, Joe, with Peters anomaly. Peters anomaly is a congenital condition that causes the cornea to be opaque rather than clear, which prevents normal visual development. Children with Peters anomaly often have other health conditions that affect other parts of the body as well.

鈥淚t was kind of a whirlwind,鈥� said Andrea. 鈥淪omething you don鈥檛 expect. Especially having four other children before him. We knew he had other diagnoses while he was in utero, they diagnosed some things via ultrasound so we were kind of prepared for that but this whole other eye business was not on the bingo card.鈥�

Unable to answer the questions that continued to arise around Joe鈥檚 Peters anomaly diagnosis as well as his brain conditions, Andrea took Joe to see various specialists and explore what options they had to seek additional treatment.

鈥淭here鈥檚 got to be something that鈥檚 causing all of this. This just isn鈥檛 normal,鈥� she recalls thinking at that time.

Through online support groups, Andrea discovered the Genomics, Genetics and Epigenetics Laboratory, led by Elena Semina, PhD at the 黑料官网. The Genomics, Genetics and Epigenetics Laboratory focuses on identifying genetic and epigenetic factors contributing to human disease through analysis of samples from affected individuals and modeling in zebrafish and human cells.

Dr. Semina鈥檚 team used exome sequencing to rule out variants in genes known to cause Peters anomaly, then began to analyze variants in genes not previously linked to ocular disorders. Through this analysis, they identified a variant in CDH2 which was unique to Joe and not seen in either of his parents and was predicted to affect the function of the protein. The protein was known to be expressed in the cornea, which led the team to believe the variant could be the cause of Joe鈥檚 diagnoses. Review of data from other individuals in the study identified three more people with variants in CDH2 and diagnoses of congenital corneal opacity/Peters anomaly with overlapping additional diagnoses in some. Around the same time that the GGE laboratory , another group reported 9 additional individuals with variants in CDH2 and gave the syndrome a name: Agenesis of the corpus callosum, Cardiac, Ocular, and Genital syndrome (ACOGS).

Upon learning about the discovery of CDH2 as a new novel cause of ocular disorders discovered through Joe鈥檚 genetic testing, Andrea was surprised to hear about this finding. 鈥淚 was very shocked. Very shocked,鈥� she said. 鈥淚 remember when Linda reached out to say that they were going to dive a little deeper to try and find a link between Joe鈥檚 brain issues and his eyes. Knowing that other people had been in the study and hadn鈥檛 heard anything yet, I thought maybe another couple of years we鈥檒l hear something. Linda reached out to me while we were at a specialty appointment, and I started crying. I thought, so now we know that it is something.鈥�

The CDH2 gene produces N-cadherin, a protein on the cell surface that is important in cell adhesion. Variants in CDH2 affect how well cells can hold on to each other within tissues. The protein plays a major role in the developing eyes, brain, and heart as well as other parts of the body. Dr. Semina鈥檚 team has continued to study the role of CDH2 and is preparing to publish a second paper, with new cases bringing the number of known individuals with ACOGS up to 35 and providing insight into the mechanisms of how the function of the gene is disrupted.

鈥淚t was pretty exciting to be a part of that and because of what we did and because of Joe, we鈥檙e able to help other families find a diagnosis so much sooner than we were able to. That is something I have really taken to heart, and I think is the coolest part of it.鈥�

One of Andrea鈥檚 primary goals was to better understand what the future would hold for Joe 鈥� what do the teenage years look like for him, what are other conditions other families are experiencing? To build a larger community and support network, Andrea created a private Facebook group bring other families together and try to answer some of those lingering questions.

鈥淚 have found that when you have somebody with something that is rare, sometimes the only way you鈥檙e going to find someone to connect with you is through the power of social media,鈥� said Andrea. 鈥淚 have another friend that I鈥檝e met through a Peters anomaly group, that has all the same symptoms as Joe, but she鈥檚 in another country.鈥�

While there is so much still unknown about the new CDH2 gene and what the future holds, Joe is a 10-year-old developing his own sense of independence, an avid video game player and member of the school band. 鈥淚 try not to let his medical and vision conditions define who he is,鈥� Andrea said. 鈥淲hatever is going to happen. After getting the results from the study, it鈥檚 calmed a piece inside my brain. We don鈥檛 have to worry or wonder. We have a name and cause to it. The study itself is a great experience for us.鈥�

Andrea鈥檚 advice to other families 鈥� you never know what鈥檚 on the other side and you might find an answer to something you鈥檙e looking for. It鈥檚 worth the time and effort.