Raymond: A “ray of sunshine” living with VAMP2
When her son Raymond was born in 2016, his mother, Alex, knew that something just wasn’t right. Raymond was misdiagnosed with cerebral palsy in 2018, but in 2020 a genetic test found he had a VAMP2 gene mutation. Here, Alex describes a long journey to diagnosis and the progress Raymond has made
By Alex Gaudlap
My name is Alex Gaudlap, also known as Raymond’s mom.
Raymond is also known as a “Ray of Sunshine”.
Raymond was born in Camp Lejeune, North Carolina, in 2016 following a normal pregnancy. From the beginning Raymond didn’t cry; he was sleeping most of the day from the moment he was born. My motherly instinct from the very beginning was that something was not right, which is the reason I eventually started going to doctors to express my concerns.
I learned very quickly that North Carolina wasn’t where we were supposed to be. Feeling defeated and eager for answers I called my mom to come to help Raymond and me pack and head back to New Jersey. My husband stayed in North Carolina until his military unit approved his transfer, which is a story in itself.
Almost immediately after returning to New Jersey in 2017, we were able to get a visit with a geneticist at Cooper Hospital in Camden, New Jersey, who ran a genetic panel. The testing came back normal, which is rare but not unheard of. We were advised that our best option would be to apply for the National Institute of Health’s Undiagnosed Diseases Program (UDP). We applied and needed to wait until Raymond met the age and weight guidelines to officially visit the hospital.
While waiting to meet the age and weight guidelines for the UDP, Raymond was given an electroencephalogram (EEG) through Nemours Children’s Health as a routine procedure to establish care. The EEG showed Raymond had a rare form of epilepsy which doctors believed was contributing to his developmental delays. Raymond was prescribed one medication but quickly transitioned to another after a severe allergic reaction, called erythema multiforme.
Throughout the years 2017–2019, Raymond received early intervention services four days a week, and outpatient therapies through Nemours Children’s Health three days a week. The services ultimately led to him being diagnosed with cerebral palsy in 2018 on his second birthday. As a mom, I felt like the cerebral palsy diagnosis was given to us because doctors didn’t know what to tell us. Although receiving the diagnosis was comforting, I always knew Raymond was unique. The cerebral palsy diagnosis didn’t stop me from searching for Raymond’s real diagnosis.
In February 2020, Raymond finally met the age and weight requirements for the Undiagnosed Disease Program. Our family of four headed to Bethesda for a full week of testing. The week was non-stop doctor-to-doctor visits, moving from floor to floor. It was extremely stressful, but I see it as one of my greatest gifts to get there before the pandemic. When Raymond was evaluated at the UDP, I was reassured that my motherly instinct of cerebral palsy not being his diagnosis was correct.
Since it had been two years since our first exome panel, we were encouraged by our team at the UDP to rerun the panel through the original company, Ambry Genetics. Most families, including myself at the time, are not aware that you can request a reanalysis for free two years after the first test without going through the insurance process. Without question, I filled out the paperwork to rerun the panel.
It was June 2020; I received a call from our genetic counsellor that Raymond had been diagnosed with a variant of the VAMP2 gene. The first case of this had been found in Ohio in 2018, less than a year after Raymond’s original panel. Now, almost three years later, remembering that phone conversation still gives me chills.
In 2021, weeks before Raymond’s little sister arrived, he began walking independently, as well as vocalising new sounds. He has improved significantly with his hand coordination and has become interested in playing with new toys, learning about books, and spending time with his siblings and peers.
The year 2022 brought us a lot of unique challenges with gastrointestinal issues but with every regression, we came back ten times stronger. In September, Raymond received his augmentative communication device and started strict speech therapy through Nemours Children’s Health. In October, he was taken off all daily seizure medication due to significant improvements with his EEGs. In November, he became more interested in taking steps and “risks”, as I call them. His confidence has really built up over the years. In December, he began isolating his pointer finger, which I could have easily thrown a party for.
As of January 2023, Raymond is now climbing in and out of his bed on his own and has an interest in playing with others. His favourite activity is running around the house and playing tag. He will be starting weekly occupational therapy soon as we feel this can offer benefits in many areas of his development. He shows a huge improvement in the communication area; even though most communication is non-verbal we know the words will come when he is ready. He’s a happy kid and I am so proud of his continued progress.
No matter what the next chapter of our story is, I remain hopeful for the future with VAMP2. I am beyond grateful for the support from the community over the years and as a thank you, I will always give back. Raymond’s smile will always be one of my favourite things to see and I know it will be yours too.
If you would like to connect personally or learn more about VAMP2, please visit www.vamp2.com. This is a website I published to raise awareness of this rare disease, advocate for the cause, help drive research into the disorder, and ultimately look for therapeutic interventions.