Transforming Health Care through Innovative and Impactful Research

The dream of every parent is for each of their children to be happy and healthy. For Andrew Selinger, that dream is bittersweet. His daughter, Jodi, and son, Brian, both have Fragile X Syndrome, an inherited intellectual disability. Having one child with the condition is challenging enough, but when both were found to have the condition, Andrew knew life would never be the same.

“With Fragile X, girls are often less affected than boys, and while there were some concerns with Jodi as early as 1½ years old, her condition was not fully diagnosed until she was almost four years old,” Andrew said. “We did not know anything about Fragile X or even realize that Jodi was as late in reaching her developmental milestones since she was our first child. After she had been in the special needs pre-school for a few weeks, it was recommended we have her evaluated for Autism. The developmental pediatrician/geneticist who diagnosed her actually tested her for Fragile X, but only for the purpose of ruling that out.”

Following Jodi’s diagnosis, Andrew and his wife, Tammy, chose to have nine-month-old Brian tested. The results confirmed their worst fears. “The doctor strongly encouraged us to seek out support from the National Fragile X Foundation, which led to making connections and having access to current treatment options,” Andrew said. “We also have been able to participate in research efforts, and Jodi and Brian have been treated at Fragile X clinics.” For Andrew, this led to a commitment to advocacy for the understanding, research, and treatment of Fragile X.

Andrew and Tammy recorded Brian’s diagnosis, and learning the news from a pediatrician/geneticist he called “extremely knowledgeable and caring” helped to ease the blow. That recording has been shared with other families and professionals many times in the ensuing years, and Andrew said advice he learned at that appointment planted another seed of advocacy.

“Within a few weeks of Jodi’s and Brian’s diagnoses, I spoke with the leader of the Missouri Fragile X Resource Group for more than an hour,” Andrew said. “Tammy and I were still coming to grips with the diagnoses of our children, but about a year later, I was ready to be an advocate and help others as much as I could.”

Unknown or unheard of to many people, Fragile X is the nation's leading cause of inherited intellectual disability, and affects about 1 in 4,000 males and 1 in 6,000 to 8,000 females. There is neither a cure nor a definitive treatment for Fragile X, but since the discovery of the Fragile X Mental Retardation 1 gene in 1991, research has led to development of educational options, medication and therapies that help develop an individual’s capabilities. It is also estimated that as many as 1 in 130 women in the world are carriers of the Fragile X gene.

Jodi is now 21 years old; Brian is 18. Andrew said in the years following their diagnoses, he has lost count of what he has learned – not just about Fragile X, but about his children, his family, and himself.

“I got a crash course in genetics; I realized quite how differently people with disabilities are treated by society; I learned how to negotiate the complicated system of Special Education; and I learned how many wonderful and caring people there are in this world,” Andrew said. “I have also learned to be a relentless advocate for my children, and how good it can be when people work together for the common goal of helping others.”

While in Washington, D.C. on an advocacy visit for the Foundation, Andrew met a military family who had visited Sen. Thad Cochran, ranking member of the Subcommittee on Defense. That experience, and his skill at explaining a family's experiences and challenges led to his nomination as a consumer reviewer for the Peer Reviewed Medical Research Program.

Grateful for his opportunity to help shape future Fragile X research, Andrew said his advocacy involvement is far from over.

“I would like to increase my knowledge of the process of how research projects are chosen to be funded, and I would like to share my life experiences to help make the best possible decisions,” Andrew said. “Also, I would like to share with as many Fragile X families as possible that they need to get involved and become advocates. They cannot rely on someone else to advocate on their behalf. This experience has enlightened me to the importance of the families and their experiences and how critical their views can be at determining which proposals are selected for funding.”