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As we approach International Rare Diseases Day on February 29th, I am reflecting on my family’s journey with Fragile X syndrome through the story of my son Christian, whom we affectionately call Buddy. This journey has transformed us, bringing us closer together through kindness, patience and appreciation for life’s simple yet profound moments. It has made Chris a better practitioner and me, more sympathetic to patient needs and a more patient person and Mom.
We started to notice at around 16 months of age that Buddy wasn’t hitting all of his normal developmental milestones. We went to a Development pediatrician at Hershey who gave him some tests, stacking blocks, threading beads etc. It is very stressful as a parent to see all of the things your child “isn’t doing at an age appropriate level.” After our visit to Hershey, his first diagnosis was a “nondescript development delay, he’ll grow out of it” is what they said. I wasn’t convinced so we went to another hospital. We saw another Developmental Pediatrician who ran many of the same tests and ultimately, gave us the same diagnosis.
We still didn’t feel like the Doctors we saw were digging in enough (looking for the root cause which honestly was what Chris was doing most days) so we went to Kennedy Krieger at Johns Hopkins. They did many of the same developmental tests and also ran comprehensive blood work. That was an awful experience for both Christian and for us. The Doctor, who was wonderful, recommended getting bloodwork and rrunning geneteic testing for dozens of different conditions. They strapped Buddy to a board and for 45 minutes, tried to get blood. I cried, he cried. He was red and sweating and it was just horrible. My heart hurts for parents who have to watch their kids suffer during medical treatments. Finally we said please stop, we’ll get it at home. We could not see him crying anymore and honestly I couldn’t imagine why someone couldn’t get blood out of his arm when this was their job. In their defense, the rest of the visit was great-compassionate and thorough.
We came home and went to see our favorite phlebotomist Dara who got it in five minutes. It wasn’t fun. He still cried but it was not traumatic at all. (It was then that we said we hope someday you can come and work with us and she has been for more than ten years now!)
Our Doctor from Kennedy Krieger told us that they would only call if there was something wrong, but that they would expect to find nothing and we would get a letter in the mail. Several weeks later, on a Friday night, Chris and I were getting ready to go out when I quickly listened to the answering machine messages. There was a message from our Doctor at Kennedy Krieger who said that he wanted to speak with us about Christian’s results. My heart sunk and I immediately panicked. I knew that they would only call if someone was wrong. They tested for so many different genetic conditions! I returned his call only to find that the office was closed. I immediately started crying and said to Chris, Oh my God how are we supposed to go the entire weekend without knowing what they found? Half an hour later the Doctor called us back from his cell phone. He explained that they found that Christian had the Fragile X gene. He was kind, patient and generous with his time. He explained that fragile X was an inherited genetic condition, found on the X gene so most likely inherited from me. Our primary question was would this shorten his lifespan and he assured us that it would not. People with Fragile X live long, healthy, full lives. His empathy in that vulnerable moment reminded us of the deep impact human connection can have in healthcare. It has made such an impact on us and on the way that we interact and think about our practice. To this day, this phone call is one of the most impactful of my life. Not necessarily because of the diagnosis that we got. But because this Doctor understood the fear and anxiety that parents would feel waiting an entire weekend to hear about a diagnosis. He was kind and patient and so generous of his time. It continues to be a moment that I think about anytime we give of our time outside of business hours, through emails, phone calls, giving of our time etc. You never know that half an hour of your time can make such a momentous impact of the future of someone’s life the way this did for Chris and I! That’s what healthcare should look like.
This diagnosis was daunting initially. I cried. We told all of our friends and family. And in Chris’ ever pragmatic way, he reminded me the next day and the day after that Buddy is absolutely no different than he was the day before. He wasn’t! The morning after diagnosis, I remember when Buddy came downstairs for breakfast. He was so sweet. Blond hair, big eyes, always had his blanky. I looked at him and realized that he had a “diagnosis” today but I asked myself if that meant he was any different than yesterday? And he was not!
What is Fragile X Syndrome? Fragile X syndrome is caused by an abnormality in the FMR1 gene on the X chromosome. Normally, this gene makes a protein that is important for brain development, but when the gene is altered, less or none of this protein gets made. This results in intellectual disability, behavioral challenges, and often features like large ears and flexible joints. Understanding the genetics behind Buddy’s syndrome helped us better grasp the medical nuances while keeping the focus on who Buddy is as a whole person.
How has functional medicine been impactful to our journey? Discovering Buddy’s sensitivities to casein and gluten and modifying his diet brought tremendous positive changes to his health, showing us the critical role of nutrition. We embrace a holistic wellness approach, understanding the links between food and overall wellbeing. At age four he was waking up with huge hives all over his body. Blood tests revealed food sensitivities. After eliminating these foods for just a few days, the hives disappeared and never returned. He has been gluten and dairy free for almost his entire life. Buddy gets his blood work done regularly and is so great about taking his supplements. He really understands the importance of them.
Buddy graduated high school in 2023 and now is thriving in the Career Studies Program at Penn State Harrisburg, we celebrate not just his growth but the journey that got us here. His diagnosis doesn’t define him; it’s just one aspect of his unique personality and talents. Buddy brings joy everywhere he goes with his compassion, determination and resilience. He loves his dogs, his siblings, his friends, grandparents, parents, and fantasy football (he came in third in the office pool this year!), football, basketball and so much more. He has an incredible memory. He can recite every player on everyone’s fantasy team. He has everyone on his Facebook’s birthday memorized! He works at Turnpaugh Health Mechanicsburg in the supplements store and throughout the office. He loves working in the office and is absolutely motivated by adult responsibility. If you are in the office and see a 6’6″ young man, feel free to say Hi Buddy!
Reflecting on this journey with Buddy, I realize how profoundly it’s reshaped our family’s essence, turning us into fiercer advocates for our family and our patients, more empathetic listeners, and patient individuals. Each step, from the initial concerns to the final diagnosis and beyond, has been a lesson in love, resilience, and the power of unwavering support.
Our experience with Fragile X Syndrome has taught us to be better health care providers, bosses, parents and individuals. We are more patient and more empathetic.We have learned to treasure each moment and advocate not just for Buddy but for all those with rare diseases, promoting a society that sees the person beneath any diagnosis. We have a greater respect for the human element of people.
Thank you for sharing our family’s story. On this International Rare Disease Day and every day, we love listening to others’ stories, celebrating that what makes us different is also what brings us together.
