When Carolyn Martin first brought her 25-year-old daughter, Cassandra, to the Clinic for Special Children, she left the appointment feeling amazed. “The doctors, nurses, and genetic counselor asked all sorts of questions about Cassandra. They were interested in every part of her health, and I could tell they cared about her. They shared my concerns and I felt very listened to,” shares Carolyn.

The Martin family’s path to finding the Clinic included decades of specialist appointments, tests, and uncertainty. “Pretty early on in Cassandra’s life, we noticed she had developmental delays. As the years progressed, we dealt with eating challenges, anxiety, seizures, disturbing behaviors, eye issues, and more. Cassandra would barely leave the house, and we were at a loss for how to help her. We experienced many years where we had more questions than answers,” explained Carolyn.

After pursuing many different healthcare options for Cassandra, Carolyn’s friend shared her positive experiences with the Clinic. With hope, Carolyn called the Clinic to have Cassandra evaluated. “I didn’t understand how much the Clinic could offer Cassandra until Dr. Grace Meier explained the different ways in which we could work together. Since we started at the Clinic, Dr. Meier has grown into being Cassandra’s primary care provider, her geneticist, providing her OB/GYN and neurology care, navigating us through guardianship, connecting us with specialists, and so much more,” shares Carolyn. “The Clinic is just a gift to us; you are my family’s people.”

To try to find a genetic answer for Cassandra, Amy Albright, a genetic counselor at the Clinic, walked the family through our pipeline of progressively in-depth genetic testing. After conducting a test that looked at all approximately 20,000 genes that code for proteins in the body, the Clinic team found a genetic change of interest in a gene called GPATCH11. There wasn’t much information about GPATCH11 and its impact on health. Fortunately, around the same time, the first scientific paper had been published describing a group of several people with similar GPATCH11 changes as Cassandra. Amy called Carolyn to share the findings of the paper and how it related to Cassandra’s results. They agreed that Cassandra and the individuals from the paper shared striking similarities.

In a surprising turn of events, Carolyn met another family whose child was recently diagnosed with GPATCH11 at Wills Eye Hospital (WEH) in Philadelphia, and due to the rarity of GPATCH11, the genetic counselor at WEH contacted Carolyn to get more information about Cassandra. Now, the WEH team and Clinic staff are collaborating on research efforts to share more about GPATCH11 and its effects on health. The Clinic laboratory has also added GPATCH11 to its carrier test, the Plain Insight Panel™.

When asked how she’s doing today, Cassandra shares, “I am joyful and not complaining as much. I like this version of me. I’m taking care of my silly worries when I have them.”