This week’s blog is written by Alex Gaudlap! Alex’s firstborn son was diagnosed with the rare condition, VAMP2. She shares her rare journey below to help others living with VAMP2 and those living with a rare disease. You can follow Alex’s journey on her:
Website: https://vamp2.com/
Instagram: @ragingraymondfo (https://www.instagram.com/ragingraymondfo/)
Facebook: https://www.facebook.com/raymondsstory
Part 1
My name is Alex Gaudlap, also known as Raymond’s mom.
Raymond is also known as “Ray of Sunshine”.
Raymond was born in Camp Lejeune, NC 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.
At the time, Raymond was seen on the military base at Camp Lejeune where I had been told that he was just a happy baby and taking his time with his milestones. We spent most of the months in the beginning traveling from Camp Lejeune to Raleigh and Wilmington, NC to visit specialists who also agreed that Raymond was fine. His MRIs had been normal and there were no obvious red flags. I can still hear those words in my head and can only imagine if I continued to listen to them, where we would be today.
In August 2017, a little over a year of fighting the system to find answers for my sweet boy I told my husband I was moving back to New Jersey to have Raymond evaluated by specialists in the Delaware Valley. At the time, I was already pregnant with our second child, Raymond’s brother, Ryan, and I wanted to make sure that Raymond and Ryan would be in an area where they could receive excellent care. My husband would have to stay in North Carolina until he got the approval from his Marine Corps Unit. That’s a whole different story.
I was fortunate enough to get an appointment almost immediately with a Geneticist at Cooper Hospital in Camden, NJ. Still to this day, I am so grateful for her. I don’t think we would be where we are if it weren’t for her. She ran an Exome sequencing on Raymond where we hoped we would be able to receive a diagnosis. Unfortunately, we were unable to receive a diagnosis and the panel came back normal. She assured us this was not abnormal and does happen from time to time. She then referred us to the National Institute of Health Undiagnosed Disease Program in Bethesda, MD.
While waiting to meet the age and weight guidelines for the Undiagnosed Disease Program Raymond was given a routine EEG through Nemours Children’s Health that showed Raymond had a rare form of epilepsy, which doctors believed was contributing to his developmental delays. Raymond was prescribed Keppra but quickly moved to Topamax after a severe allergic reaction to Keppra. He had a reaction called Erythema multiforme which is a form of Stephen Johnson syndrome.
During this time, Raymond received early intervention services four days a week and outpatient therapies at Nemours Children’s Health three days a week which ultimately led to him being diagnosed with cerebral palsy on his second birthday in 2018. As a mom, I feel 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. Following 2018, I didn’t stop searching for Raymond’s real diagnosis.
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. It was truly a gift for me to get there before the pandemic and COVID restrictions were put into place. When we were evaluated, we were again told that Raymond had cerebral palsy but that it was a symptom of his main diagnosis.
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 Counselor that Raymond had been diagnosed with a variant on the VAMP2 gene. Less than a year after Raymond’s original panel, the first case of VAMP2 was found in Ohio. Almost three years later, remembering that phone conversation still gives me chills.
In 2021, Raymond began walking independently, as well as vocalizing new sounds. We are so proud of him. 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.
Part 2
The years leading up to Raymond’s VAMP2 diagnosis were some of the most challenging years of my entire life. They taught me forgiveness, love, patience, and sacrifice. I will never lie; life has been hard and did not turn out the way that I ever expected it to. But because of what has become my life I have become the person I am today. I have overcome situations that many people could not comprehend. I never imagined I could be so strong and passionate about something. I truly just want to make the world a better place.
I want to be the voice of the parents who can’t speak. I don’t want to just make a change for VAMP2, but for the rare disease community. A diagnosis doesn’t define you or your family. It doesn’t say what you can or can’t do in your lifetime. There are so many diagnoses in the world that people put an image to which causes way too many stereotypes and quite honestly, in my opinion scares families. Everyone’s journey is different and no one person will have the same story. Most of this world is intimidated by the word rare which I can agree is scary, but it is only rare until awareness is raised, and we work toward cures. I am determined to take away the scariness of the word rare.
In 2022, I connected with Professor Wendy Gold who works at the Children’s Medical Research Institute in Sydney, Australia who is working on a gene therapy approach for VAMP2.
“Gene therapies are an exciting area of biotechnology and clinical therapies right now. Our team in Sydney is focused on developing a gene therapy for individuals with variants in the VAMP2 gene where we are connecting with many research teams and clinicians world-wide to assist us in our quest. In support of this universal approach to our research we have adapted the famous African proverb too: It takes a village to raise a child but an army of researchers, clinicians, and communities to cure one.”
In August 2022, I launched my website www.vamp2.com to help raise awareness of VAMP2 with the long-term goal of reaching professionals. The website includes the different variants and blogs on families. Less than a month after my launch I was contacted by a neurologist in London who is working on VAMP2. You can visit the website for the most recent information.
“What you have done has been really helpful. I would like to see that done for all the rare genes that we work on. It is helpful for families to meet and chat and compare the good and bad.”
As of 2023, I am a main administrator on the VAMP2 Facebook page. It is my job to connect families affected by VAMP2. So far, our VAMP2 families are in Australia, Serbia, Spain, Ireland, United Kingdom, and the United States.
In the coming months, I will be assisting the University College London with a Patient Collection Database of VAMP2 families which will include significant symptoms of the individuals. Ultimately, I hope this can help advance the research and give the professionals a higher chance of finding a cure.
“I am studying neurotransmitter release – a mechanism by which neurons communicate with each other in the brain. VAMP2 is a major player in this process. It was your website that motivated me to start researching disorders caused by VAMP2 mutations. Your website is very detailed, and I could see how this could help us better understand what is happening with neuronal signaling when VAMP2 malfunctions”.
I have a passion for making a difference and I will fight every day of my life to find a cure for VAMP2. I remain hopeful that I will be able to cure not just Raymond, but all the others affected. Now and 100 years from now. I teach my three children each day that their sibling is the most important person in their life, and I set them up to support each other every day. Even if it doesn’t happen in my lifetime, I hope to build something that my children can continue when I am no longer here. It must start somewhere if we want a change.
Raymond continues to be our ray of sunshine. He is so laid back and doing so well. In September 2022 he received his Augmentative Communication Device and began outpatient speech therapy. In October 2022, he officially was taken off all seizure medication. In December 2022, he began isolating his pointer finger; I could have thrown a party. As of January 2023, he is now climbing in and out of his bed on his own and has such an interest in playing with others. He will be starting weekly occupational therapy soon as we feel this can have a benefit in many areas of his development. He shows a huge improvement in the communication area; even though most is non-verbal we know the words will come when he is ready. He’s a happy kid and I am so proud to be his mom.
No matter what the next chapter of our story is, I remain hopeful for the future with VAMP2. My biggest goal is to make a difference by sharing our story and I feel I have done that. I am grateful for the support the community has given us. Raymond’s smile will always be one of my favorite things to see and I know it will be yours too.
About VAMP2
Vesicle Associated Membrane Protein 2 also known as VAMP2 is located on the p arm of human chromosome 17 and has an autosomal dominant mode of inheritance. VAMP2 is also known as a neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements. It is also known to cause visual impairments and epilepsy.
VAMP2 is a complicated diagnosis. All the cases have many similarities but also many differences. As of December 2022, there are 19 different variants within 21 cases around the world. A few researchers that I have been in contact with have said that research is still in its early stages. At this point, VAMP2 is so rare that we don’t know the impact.
Some of the symptoms for VAMP2 include learning and cognitive disabilities, neurodevelopmental delays, and since this is considered ultra-rare and we don’t know the impact.