After five long years of blindly trusting the recommendations of multiple doctors and specialists, my son still couldn’t speak and my family still had no answers.
Conner is my second son, and during my pregnancy and the first few months of his life, we had no reason to doubt that he was healthy. It wasn’t until he was one year old that I noticed some differences compared to my firstborn: Conner couldn’t sit up, hold things, or crawl, and he talked less than his older brother.
After these early signs, we took Conner to see his pediatrician, who recommended early intervention therapy. Although the therapy initially seemed to improve Conner’s symptoms, eventually his progress stalled and we became concerned again. Despite seeing several specialists at this point, we were told to wait as “things would get better eventually.”
Purely by chance, in early 2020, when Conner was five years old, a resident at his pediatrician’s office asked if we had ever been offered genetic testing. This was the first time we were presented with this test, and the resident referred us to a doctor in Loma Linda University Health.
Despite the extensive amount of red tape required to get the tests approved, our new doctor took care of everything and immediately ordered genetic testing. When the results came in, we finally had an answer: Conner had Angelman syndromea rare genetic disorder that causes developmental disabilities and nerve-related symptoms.
Despite the difficult news and the work it took to fully understand what this diagnosis meant to my son and my family, in that moment I felt relief and triumph that we finally had answers. But I was also exhausted after years of false hope and wasted time that could have been devoted to Conner’s treatment.
The Paradox of California’s Prenatal Screening Program
My journey with the late diagnosis of Conner’s rare disease, while common, does not have to be the norm. California recently made it a priority to increase access to non-invasive prenatal screening tests, known as NIPS, which provide pregnant families with important information to assess a fetus’s risk of genetic abnormalities, including rare diseases such as Angelman syndrome.
In compliance with Senate Bill 1555the California Department of Public Health has prioritized expanding prenatal screening for pregnant Californians. Specifically, the health department’s Prenatal Screening Program, or PNS, provides NIPS tests at a discounted rate. While this program should theoretically increase access to genetic testing for expectant parents, recent amendments to the program do the opposite.
The PNS Program defines the scope of NIPS to include detection of autosomal trisomy, but excludes other valuable information that standard NIPS tests look for, such as aneuploidies and sex chromosome microdeletions. Since Angelman syndrome is the result of microdeletions, my son’s disease not be detected on tests administered through the California PNS program, nor countless other rare genetic conditions.
Californians have the “choice” to participate in the PNS Program and receive the reduced NIPS for autosomal trisomies, or to decline to participate in the program and not have access to that information at all, since the laboratories are not contracted within the program cannot provide NIPS for autosomal trisomies. Because of that, it is estimated that the program will lose at least 1,263 pregnancies in California annually that are affected by the genetic variations not included.
A High Court recently granted a preliminary injunction temporarily preventing the health department from enforcing the requirement that only laboratories that contract with it can test for trisomy, meaning California residents can opt out of the program to receive full testing. While this is a Band-Aid for now, this is not enough: I urge the health department to offer more comprehensive NIPS screenings or at least permanently allow people the opportunity to get comprehensive screenings outside of the PNS program.
live with answers
Parents deserve to know what to expect when planning for their children’s future. For children like my son, developmental delays and seizures related to a specific condition often do not appear for several years. Incomplete screening in the PNS program will contribute to long delays in finding a diagnosis and appropriate care for these children.
Today Conner is a happy 7 year old and the light of my world. Although there are times when we feel lost and like we can’t go on, Conner brings us back with his determination and strength. He never gives up, no matter what obstacles stand in his way, something he has instilled in me as he advocated for greater awareness and access to genetic testing for Angelman syndrome.
Ashley Weinberg is a licensed vocational nurse and nursing student from the San Diego area. She has three children, including Conner, who has Angelman syndrome. Since her diagnosis, Ashley has been active in the advocacy community, including testifying before the California government about the importance of comprehensive genetic testing and raising funds for the Angelman community.