Westin 's story is told by his mom, Abby
Westin, our sweet four-year-old, is the oldest of his younger siblings, Lyla and Nash, and also has an older half-brother, Austin. Not only is Westin kind, gentle, and so loving, but he is also brave, strong, and resilient. Despite being diagnosed with SURF1 Leigh Syndrome at the age of two, Westin crushes every obstacle and continues to overcome his hardships every day, all while remaining happy and so full of life. He also has the strongest support system, and we all love him endlessly.
Everything in Westin’s world seemed normal until shortly after he turned the age of one. He had started vomiting about every morning while eating breakfast or right after and sometimes for no reason at all. The vomiting never bothered him, and he would go right back to eating or whatever he was doing at the time. I knew that something was causing this, and he was not just getting sick. We took him to the pediatrician we were seeing at the time, and he could not pinpoint any cause or reason for the issue. The recurring response I seemed to get was “kids throw up sometimes; he will grow out of it.”
After a few more appointments, we were referred to see a gastroenterologist which took six months to get into. While this was our main concern, we started noticing that his ability to walk was something he seemed to struggle with and would also have episodes of staring off. After expressing my concerns to the GI doctor, the first thing he wanted to do was get a brain MRI done on Westin. I worked in the Radiology Department at Akron Children’s Hospital during this time. I knew the process. Westin was sedated due to his age. While he slept in a twilight during the scan, I stayed in the room with him. I knew all the physicians and techs in the department.
We were almost finished with the scan when the tech came in and told me the radiologist wanted a few additional images taken, and they were going to add contrast. I knew at that very moment they had found something, and the intense feeling of anxiety crept in, confirming my fears that something was wrong. So, I sat in that room with my sleeping little boy, techs behind the glass, just the two of us and all I could do was continue to watch him with a feeling that our world might be changing.
After they took us back to our room and Westin woke up from sedation, we walked back to the radiology department. I spoke with the radiologist reading his images. She told me whatever he had was rare and looked metabolic. She explained everything she could in the kindest way possible and told me to prepare for a lot of testing. She wanted another radiologist to review the images before putting in the official report. Later that evening, I received the MyChart notification that Westin’s MRI results were complete. SURF1 related Leigh Syndrome was the first diagnosis I read and very quickly Google became my enemy.
There really are no words to describe the feeling of finding out your child has a life-limiting illness and all the scary things that come with it. Especially when you read the words “rare, regression, terminal, no treatment, no cure” and the list could go on. These are words that a parent should never have to take on for their child. But here we are, and we are thriving. We were able to meet with our now neurologist the following week and thankfully, we have a Mitochondrial Clinic at Akron Children’s Hospital. He reviewed the MRI, explained what Leigh Syndrome was, and discussed other possibilities the scan could represent. However, we wouldn’t have a confirmed answer until genetic testing was completed. My son, my husband, and I all had blood work done. After two long months of waiting, I received the call from Westin’s neurologist. A moment burned in my mind, and I was told it was confirmed he has SURF1 Leigh Syndrome.
My heart broke, not just for me, but for Westin and everyone who loves him dearly. It didn’t feel real. I remember saying to his neurologist on the phone, “but he is still doing so well.” I was in disbelief. On August 28th, 2023, my daughter’s first birthday, we met with the doctor for the second time and received the official diagnosis in person. From there our Leigh Syndrome journey began, and I am so proud of how far Westin has come and how far we have come as a family.
Our family’s strength comes from Westin. His heart is so pure, and he has changed all our lives in the best way possible. When he says things like, “I won’t cry, mom, I’ll be brave,” as he holds his dads hand when I give him his Tuesday night Hizentra infusions or when he falls and pulls himself right back up. The examples could go on and on. Westin continues to teach us gratitude, to take nothing for granted and to remember that every single day matters. But through the joy and every hardship, faith and hope is what continues to carry us forward.
Westin is our monster truck and lightning McQueen-loving boy. He loves his family so much, and he knows how deeply loved and cared for he is. His siblings have been such a great support for him. He loves spending time with his grandparents, aunts, uncles, and cousins. Westin started preschool this year and is having so much fun. I will say, there is light in all of this, and his life shines brighter than the shadows we fear. One thing for certain is that Westin is our inspiration and the impact he has on those around him is greater than words could ever express.
The best advice I can give to a newly diagnosed family is to follow your child’s lead; they are in charge of this journey. In turn, we are here to love, support, fight and stand by them every single step of the way. Remember to celebrate and appreciate all the small things. Acceptance took me a long time, but once I got there, I realized just how special this life is. I am so blessed, grateful, and lucky that I get to love Westin, learn from him and be his mom. Don’t let Leigh Syndrome define you or your child. It might seem like it now, but you are not alone in the rare disease world. We are all doing the best we can. Be patient with yourself. Have grace. Love your little one with all you have and never lose hope. It’s the one thing I won’t let anyone take away from us.
