Alex and Raymond's Rare Journey: Vamp2

By Alex Gaudlap

My son, Raymond was born in 2016 with a laid-back personality and a smile that instantly lit up the room. He was the happiest baby and brought pure joy to my life every second of every day. I felt extra lucky to be his mom.

As time went on, my motherly instincts told me that something wasn’t right. He wasn’t hitting milestones as he should, and he was very calm. I began expressing my concerns but was ignored by every Doctor we had seen even when I told them, I knew my child best.

In August 2017, my advocacy journey began. Already pregnant with my second child, (Raymond’s amazing little brother, Ryan) I moved back to my home state of New Jersey to have Raymond evaluated by top-notch specialists in our area. He was still unable to roll over, crawl, walk, or talk. Over the first few months back Raymond saw a Geneticist who did genome testing which came back normal. She was shocked and referred us to the National Institute of Health’s Undiagnosed Disease Program.

In the meantime, we continued setting up appointments to see more specialists and the second being a Neurologist who recommended routine testing to begin ruling things out. Never did we expect to find out Raymond was having seizures all day, and this was causing his global developmental delay. He was given a diagnosis of epilepsy and began daily seizure medication. Immediately showed improvement, sitting on his own within a week. Unfortunately, he was severely allergic to this medication and was put on another.

Shortly after we received the epilepsy diagnosis, we began setting up therapies. Early Intervention Services; Physical Therapy, Speech Therapy, and Occupational Therapy as well as Outpatient Services. He sometimes attended therapy five days a week. It was what I call a burnt-out, exhausting, full-time job but it was worth it, especially seeing how far we have come. My goal was always to load up on every possible therapy so that by the time Raymond was in school he wouldn’t have to be pulled out as often. I didn’t want him to remember all he went through. Medically complex or not, education is important and something every child deserves to receive.

When Raymond turned two, he still had not been officially accepted into the Undiagnosed Disease Program therefore we did not have any additional diagnosis. Or so we thought. At Raymond’s annual check-up with the Orthopedic, he was given a diagnosis of Cerebral Palsy. I was told he would probably never walk and most likely never talk. I was heartbroken. I hated the way this made me feel and I hated even more that I was told what my child would and would not achieve in his life.

I left this appointment saying in my head, “Game time”.

I was determined to get my son through this while proving to other parents that you can achieve anything with determination and hard work.

A few weeks later, we received a letter in the mail saying Raymond was officially accepted into the Undiagnosed Disease Program. Sad that we didn’t meet the age and weight guidelines but still excited to know we would get there eventually.

Raymond graduated Early Intervention in 2019 and transitioned into an Applied Behavioral Analysis Pre-School program in our public school system. He received in-school support from a one-to-one aide and had in-school Physical therapy, Occupational therapy, and Speech therapy. After school, he continued with his outpatient sessions as well. His little brother often tagged along to cheer him on.

In February 2020, Raymond received his “Crocodile walker”, and due to the pandemic and his rapidly increasing physical abilities, we were able to transition out of Outpatient Physical Therapy. Allowing someone else to take our spot. We celebrated by officially being accepted into the NIH Undiagnosed Disease Program and headed to Bethesda, MD for a week where he would be evaluated by many different Doctors. This week was filled with non-stop evaluations and testing to help us better understand what his diagnosis was. During this time, we were also advised that his Cerebral palsy was a symptom of his main diagnosis. Whatever that was. At the end of the week, still not diagnosed, we were advised to rerun our original genetic panel. There was a very small chance we may be able to receive a diagnosis, but it was possible.

I’ll never forget the day I got the call with our diagnosis. It was a few days after Raymond’s fourth birthday. I was happy. I was grateful. I was sad. I was angry. I was SCARED. He was diagnosed with a mutation on his VAMP2 gene. There were very few cases in the world and hardly any education online. Despite this rare diagnosis, I made sure we were all committed to smiling every day. If Raymond could, we could. He was a true inspiration.

In Summer 2021, on Raymond’s fifth birthday, he walked out of his walker and began walking independently. His hand coordination improved, and he was now beginning to vocalize new sounds consistently. He babbled away as he built a relationship with his newly born little sister, Isabel.

The year 2022 brought many unexpected and new challenges to our world as Raymond struggled with chronic vomiting and communication frustration. Fortunately, after a year the vomiting started to make its way out of our life, but the communication frustration seemed to be staying. As a mom, it was so hard to watch him know what he wanted but unable to express it. We fought with Medicaid to approve an AAC device and we dedicated our time to Outpatient Speech Therapy.

This last year our family has continued to work on our goal of improving communication for Raymond. We respect his communication boundaries but also set reasonable expectations. We do not force him to use his AAC, but we do make him communicate with us. Some days it's using his AAC or pointing and others it's using an eye gaze. Taking his lead and letting him choose the way he communicates with us has made a huge difference in our world. Professionals have disagreed with me but just as I said at the beginning, I know my child best.

This journey has been the furthest from easy for me, but my son’s resilience keeps me going. Because of him, I have been able to see life differently, celebrating the little things. His little brother and sister have compassion and empathy beyond their years and show nothing but kindness to others. The people I have connected with, influenced, and brought into my extended family are all because of him and what he has brought to our family. I am grateful every day for the road this life has taken me on. I am no longer sad or angry but sometimes scared but I allow myself to feel emotions as they come. This life is unpredictable so celebrating every day and all it brings is the way to go. Raymond has been off medications for a year and his EEGs have improved greatly. I understand our story is different than many others, but I want you to know that even on your darkest days it is okay to smile. My son is my hero and I hope that even on your darkest days, your child can be yours. I am sending you nothing but positive thoughts as you continue your journey.

I’m always here to listen.

-Alex Gaudlap

Instagram:​ vamp2mama

Email: ​ agaudlap@ragingraymondfoundation.org

VAMP2 mutations are now understood to cause neurodevelopmental disorders, such as vision impairments, movement disorders, and epilepsy.

www.vamp2.org

Raging Raymond Foundation

www.ragingraymondfoundation.org

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We love how fiercely Alex advocated for her son's medical care. Celebrating advocacy is something we love to do here at ELM! Check out our advocacy gear in the shop, like this baseball tee or this leather journal to celebrate where you are!