Chelsea & Hunter’s Story
You often hear people say how specific events change their lives in an instant. I never really understood what that meant until now. Finding out Hunter’s diagnosis not only changed our lives, it also changed who I was as a person. It changed how I was as a mother, a daughter, a friend, and a partner. It was the day before Thanksgiving 2021. My mom and I had just arrived at my aunt’s house to start cooking for our family dinner when my husband called. He told me our almost 3-year-old, Hunter, had fallen off the couch after wrestling with his older brother. An event that occurred quite frequently in our home. However, this time was different. Hunter could barely stand, nor did he want to put any pressure on his legs. An ambulance was immediately called, and paramedics arrived soon after.
After completing a full vitals check, cognitive check, and hip and leg check, the paramedics assumed it was a sprained or pulled muscle. Hunter was able to stand and walk that evening however something was still very off. He was off balance and extremely unsteady. My momma gut instincts didn’t feel right so we scheduled a visit with his pediatrician. Our pediatrician referred us to the nearest Mercy hospital for X-rays where nothing was found. She then referred us to a pediatric orthopedic doctor who immediately told us he felt this was neurological. No parent wants to hear the word neurological during a doctor’s visit. We quickly scheduled with the pediatric neurologist at Mercy, and he was wonderful. Told us it seemed to be viral and sometimes a child’s gait can be thrown off balance due to a certain virus. I cried in his office because I was so full of relief. He told us to have an MRI done just as a precaution in case he had a small brain bleed from bumping his head.
We scheduled the MRI for the following week but were still so relieved to hear it was probably only a virus. Our doctors explained how he would only be in the MRI for an hour at the most. After an hour and a half went by, my insides started to ache, and I had some sense that something was wrong. As the team wheeled him back into our room, I saw the nurse’s face and I just knew something wasn’t right. My husband assured me that if anything was serious, our neurologist would come down to speak with us. It wasn’t too long after he spoke those words that our doctor walked through the doors. My husband and I looked at each other in disbelief.
As he went over Hunter’s MRI, explaining to us that he has a brain disease called Leukodystrophy where he isn’t producing white matter, I glazed over and somewhat blacked out. I had to escape that room. I needed to leave because on some level I felt like if I left the room, that meant this wasn’t happening. He’s just a baby. He’s only one month shy of turning three. How is this happening? Why is this happening? This isn’t supposed to be happening and we’re not supposed to be here! These were the questions racing through my mind.
The next couple of months were spent with our genetic doctors running tests on Hunter, my husband, and me as well as our older son. We received a final diagnosis confirmation in February of 2022 called Vanishing White Matter disease. This is a rare genetic type of Leukodystrophy that both my husband and I are unaffected carriers of. The disease is so rare the chances of us both having a gene for it are extremely low. We then had a twenty-five percent chance of conceiving a child affected by the disease and that is exactly what had occurred. Our older child, Mason is also a carrier, however, we are so very grateful that he is unaffected. In short, Vanishing White Matter disease (VWM) is a very rare neurological condition that destroys myelin, the brain’s white matter. In doing so, it permanently affects the transmission of brain signals to the rest of the body. VWM primarily affects children and is untreatable, incurable, and terminal. Later that same month is when we received a call about a clinical trial in The Netherlands. I will never forget the rush of emotions the day our genetics doctor called us. We finally felt we had HOPE after months of feeling so hopeless. There were several criteria for the trial; one being the patient must be 16 or younger, must still be ambulatory (walking 10+ steps on their own or with light support), the onset of the disease must have taken place prior to 6 years old, and so on. Hunter met each qualification. After a few consent forms were filled out, along with several videos of Hunter, we overnighted his MRI disc from Mercy to The Netherlands and he was in!
Dr. van der Knaap of Amsterdam spent over 30 years working on a treatment for VWM in children, since currently there is none. She discovered a medication called Guanabenz; previously used as a hypertension medication prescribed many years ago. She found that it plays an intricate role in mitigating VWM. We were told to plan on staying in The Netherlands for 4-8 weeks. Our stay ended up being right at 5 weeks as Hunter struggled initially on the medication. Once we corrected his daily dosing amount and he started getting used to the medication we were sent home! Those were the most difficult five weeks of our lives. Hunter experienced hallucinations at night, extreme dry mouth, and had daily blood draws to make sure the medication was being properly absorbed into his body. We had to take his blood pressure daily as well as his temperature and report to our team of doctors at the hospital every single day while we were there. This was also very hard on his body which caused some regression. It was also excruciating being away from our older son, missing his 6 th birthday and Easter. We are so blessed he was able to stay with my parents during our stay. They threw him an amazing birthday party and he did great. It was definitely harder on us than it was on him. To date, Hunter has been on the medication for over a year and is doing well! Typically, with this type of condition, regression can happen quickly. Especially if there is head trauma or high fever involved. During the last year, Hunter has had minor head bumps here and there as well as low-grade fevers and we luckily have not seen any regression. He still struggles daily with walking and some motor functions; however, he works extremely hard during all his therapy sessions. He is so patient with himself and is the most determined little boy I’ve ever known.
We are still in the early stages of our rare diagnosis; however, I feel drawn to helping others who may be experiencing those initial overwhelming emotions. I wish I had someone to talk to during that time. Not my husband or family members who were going through the same feelings as me. I wish I had the opportunity to talk to a seasoned mother who had gone through this and came out on the other side of it. Someone to tell me we can find hope in the most unexpected ways and even in the darkest of days, there is so much happiness that lies ahead. I’ve added some more information below on our foundation which supports the clinical trial Hunter is in. I’ve also included our family blog which shares more of our story and the channels we went through to get where we are today. My contact information is also listed. I am an open book and would love to answer any questions. If I don’t know the answers, I will do my best to help find them!
The VWM Families Foundation – Supporting Vanishing White Matter disease research and families.
Chelsea Belyew
cbelyew@yahoo.com