After five long years of blindly trusting recommendations from multiple doctors and specialists, my son still couldn’t speak, and my family still had no answers.
Conner is my second child, and during my pregnancy and first few months of his life, we had no reason to doubt that he was anything but healthy. It wasn’t until he was a year old that I noticed some differences compared to my firstborn — Conner couldn’t sit up, hold things in his hands, or crawl, and was less vocal than his older sister.
After these early signs, we took Conner to see his pediatrician, who recommended early intervention therapy. Although therapy seemed to initially improve Conner’s symptoms, eventually his progress stalled, and we were back to worrying. Despite seeing several specialists at this point, we were told to just wait, as “things would eventually get better.”
By complete chance in early 2020, when Conner was five, a resident at his pediatrician’s office asked if we’d ever been offered genetic testing. This was the first time this testing was presented to us, and the resident referred us to a doctor at Loma Linda University Health.
Despite the copious amount of red tape required to get testing approved, our new doctor took care of everything and immediately ordered genetic testing. When the results arrived, we finally had an answer: Conner had Angelman syndrome, a rare genetic disorder that causes developmental disabilities and nerve-related symptoms.
Despite the difficult news and work it took to fully comprehend what this diagnosis meant for my son and family, in this moment I felt relief and triumph that we finally had answers. But I also felt exhausted after years of false hope and lost time that I could have put toward Conner’s treatment.
The Paradox of California’s Prenatal Screening Program
My journey with Conner’s late rare disease diagnosis, although common, does not have to be the norm. California recently made it a priority to increase access to noninvasive prenatal screening tests, known as NIPS, which give expectant families important information to assess the risk of a fetus having genetic abnormalities, including rare diseases like Angelman syndrome.
In compliance with Senate Bill 1555, the 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 reduced price. While in theory this program should 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 autosomal trisomy screening, but to exclude other valuable information that standard NIPS tests look for, such as sex chromosome aneuploidies and microdeletions. Since Angelman syndrome is a result of microdeletions, my son’s disease would not be detected in tests administered through California’s PNS program, nor would countless other rare genetic conditions.
Californians have the “choice” to opt-in to the PNS Program and receive the pared-down NIPS for autosomal trisomies, or to refuse to take part in the program and not have access to that information at all, since laboratories not contracted within the program cannot provide NIPS for autosomal trisomies. Because of that, it’s estimated that the program will miss at least 1,263 Californian pregnancies annually that are impacted by the genetic variations not included.
A Superior Court recently granted a preliminary injunction temporarily preventing the health department from enforcing the requirement that only labs contracting with it be allowed to perform trisomy screening, meaning California residents can go outside the program to receive comprehensive testing. Although a band-aid for now, this is not enough — I urge the health department to offer more comprehensive NIPS screening or at least permanently allow individuals the opportunity to obtain comprehensive screening outside the PNS Program.
Living with Answers
Parents deserve to know what to expect when they are planning for their child’s future. For children like my son, developmental delays and seizures connected to a specific condition often don’t appear for several years. The incomplete screening in the PNS program will contribute to long delays in finding a diagnosis and proper care for these children.
Today, Conner is a happy 7-year-old and the light of my world. Although there are moments where 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 the obstacles in his way — something he’s instilled in me as I advocate for increased 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 his diagnosis, Ashley has been active in the advocacy community, including testifying before the California government on the importance of comprehensive genetic testing and driving fundraisers for the Angelman community.