Annabelle van Deursen.
Photo by Laura Geisen photography.
Annabelle 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.
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 neurologist 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 offers the coverage needed to diagnose patients rapidly and reliably.
The van Deursen Family: Daniel, Annabelle, Shelley, Matthew and James.
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; there is a broad spectrum of symptoms, depending on the variant. Some variants are known to cause seizures, and some cause movement disorders. Every child diagnosed seems to have some sort of developmental delay. There is currently no cure for this GNAO1 mutation, but the van Deursen’s goal through Annabelle’s Amazing Graces is to change that through fundraising to provide funds for research.
Today Annabelle attends kindergarten and is loving every minute of school. Therapy seems to be Annabelle’s only treatment at this time. She does have hypotonia; she isn’t talking or walking independently, but she is the hardest working little girl according to mom and dad. She has made incredible progress, and now Annabelle can now scoot and crawl around the entire house, getting to where she wants. She can get into a sitting position from lying down, she is walking beautifully in her walker, she can maneuver her wheelchair around, she can feed herself, and she is “talking’”using her AAC device. Shelley describes Annabelle as a “happy, beautiful, sweet and funny little girl. She is one of the biggest blessings in our life, and we are blessed that God has entrusted us to be her parents.”
The GNAO1 mutation is progressive and Shelley and Daniel see that in Annabelle. “I feel like we are in a race with time, which is why it’s so important for us to fund research for the GNAO1 mutation and try to stop this mutation from progressing and eventually find a cure,” said Shelley. “We started Annabelle’s Amazing Graces non-profit to raise awareness about the GNAO1 mutation and to try and cure our daughter. I remember telling my husband when we decided to host Annabelle’s Benefit that I couldn’t let this genetic mutation kill our daughter without trying to stop it. I still feel that way. It’s hard to watch your child suffer knowing you can’t do anything to help, so we are doing what we know to do and that is fund research to learn about the GNAO1 mutation and ultimately find a cure for it.”