Annabelle’s Amazing Graces A
nnabelle van Deursen was born on November 6th, 2015, a healthy, beautiful girl. She was developing appropriately until about six months of age, and at this time, her mother, Shelley van Deursen, noticed she was missing developmental milestones. Shelley and husband, Daniel, voiced their concerns to their pediatrician, and at nine months, Annabelle was referred to a neurologist.
fers the coverage needed to diagnose patients rapidly and reliably.
Finding An Answer
Delayed Milestones At nine months, Annabelle wasn’t sitting, crawling or babbling much. The van Deursen’s were told Annabelle had benign hypotonia. At her first neurologist appointment, Annabelle was referred for physical therapy, and several labs were ordered. In August of 2016, Annabelle began physical therapy weekly. Her blood work for spinal muscular atrophy (SMA) came back negative, and her other labs came back normal. At a follow up with the neurologist in November, an MRI and additional blood work was ordered. These tests came back relatively normal for her age of 12 months. In January, Shelley became pregnant with Annabelle’s little brother, and at her prenatal genetic appointment, the counselor recommended the van Deursen’s meet with a genetics’ physician for Annabelle. They continued to follow up with Annabelle’s neu-
Annabelle van Deursen. Photo by Laura Geisen photography.
rologist every three months with blood work and tests continuing to come back negative. The genetics’ physician then ordered the TRIO WES test for Annabelle, Daniel and Shelley. The Trio Whole Exome Sequencing (WES) is a highly complex comprehensive genetic test that identifies changes in a patient’s DNA that are causative or related to their medical concerns. By focusing on the entire protein-coding regions of the genome – the exome – WES of-
About GNAO1 Mutation GNAO1 (G Protein Subunit Alpha O1) is a Protein Coding gene. Some of the individuals with mutations on the GNAO1 gene suffer from seizures associated with early infantile epileptic encephalopathy-17. Others have mild to severe movement disorders. All seem to have some form of developmental delay. To date, 60 people worldwide have been identified as having a mutation on the GNAO1 gene.
Shelley was 35 weeks pregnant when she received the call from Annabelle’s genetics’ counselor with the WES results. Though the van Deursen’s were told the test results would take eight to 12 weeks, the results were in within about four weeks. “I will never forget that moment,” recalled Shelley, who was driving Annabelle to therapy. “The counselor told me that they had found the source for Annabelle’s developmental delays. She proceeded to tell me that Annabelle had a GNAO1 mutation, and there were only eight reported cases in the world, all females, and the oldest was 18 years old. The only question I asked was, ‘What is her life expectancy?’ The counselor couldn’t answer that question for me. I hung up with her and immediately called my husband hysterically crying. I couldn’t lose this beautiful, sweet little girl.” That night Shelley and Daniel searched the internet for anything they could find about the GNAO1 mutation. They were surprised to find there were 50 children in the world with that mutation, all boys and girls. “We connected with families through a Facebook group and email,” said Shelley. “We met with Annabelle’s neurologist that Monday. Since the mutation is so rare, she didn’t know much about it. That week we also met with her geneticist. He, too, did not know very much about GNAO1.” The van Deursen’s continued to connect with families through social media and received much more information about Annabelle’s diagnosis. They discovered about 250 children diagnosed with a GNAO1 mutation in the world;
