It hurts my heart to write this post about a physician who became a colleague and a friend after meeting him as the amazing clinician that he was. Dr. Stephen Kahler passed away on June 23, 2025. As we have just passed the year mark of Dr. Kahler being gone, I miss his wisdom and insightful hypotheses and genuine curiosity, but what I miss most is how he would make you feel each time you spoke to him, like you mattered and that he genuinely cared about you and how you and your child were doing. For Dr. Kahler that was not for show… he cared deeply from the heart.
I first met him on a trip to Arkansas Children’s Hospital to the multispecialty autism clinic that Dr. Richard Frye and Dr. Kahler collaboratively created and collaboratively operated. This clinic was the first of it’s kind, as far as I know, in a mainstream children’s hospital, exploring the metabolic and mitochondrial underpinnings of autism and other developmental disabilities. It would be our first of 3 visits to the clinic over the years and what I did not know walking through those doors for the first time and meeting the jovial pediatrician and metabolic genetics specialist who mesmerized my sweet child by pulling pennies out of her ears, was that nearly 12 years later his death would be such an incredible loss and leave such a void.
It was Dr. Kahler who connected us with Dr. Lonsdale’s research on thiamine after ordering a transketolase test that gave us many clues for our daughter. Dr. Lonsdale and Dr. Kahler had known each other for years and had shared many observations and wisdom on ways they had found to help children including those with an autism diagnosis over the years.
In looking back at my email communications with Dr. Kahler, I reached out to him in April of 2012 when I came across this presentation through the Organic Acidemia Association (which later led to this article in their newsletter), which piqued my curiosity on his thoughts and insights on autism and metabolic conditions.
In 2016 the work Dr. Frye and Dr. Kahler were doing at the clinic in Arkansas was highlighted in this article in Arkansas Times.
This quote from the article is a “Kahler classic” and I have heard many times from Dr. Kahler:
“Autism” is not a disorder,” Arkansas Children’s Hospital geneticist Dr. Stephen Kahler said. “It’s a description of how somebody looks to us, how they behave. They don’t relate to other people very well, they’re not good at communication. But those are descriptions about how somebody behaves. The only thing measureable is how old you are. If you are 2 months old, you can’t diagnose autism. If you are 50 with these characteristics, you wouldn’t call it autism. Everything else is a description of how you behave.””
In 2021, I had the distinct honor and pleasure to get invited to speak at the MSRGN’s Genetic Summit held virtually due to COVID. I reached out to Dr. Kahler to ask if he would be willing to present with me about Autism, to explore beyond the “it’s genetic” monniker and dig into the metabolic underpinnings that he had seen first hand in his career and clinic. He said he would love to and the next few months that we worked together on the slides, are a fond memory that I will cherish.
It was also in 2021, when our PANDAS Ebook was published and after sharing the news with him, he replied with his encouragement:
“Congratulations! I’ve just purchased it and had quick peruse. Very nice! My favorite old Neurology book, by S.A.Kinnear Wilson (of Wilson’s disease) from 1940, has wonderful accounts of many disorders. Even when I first learned of this book (1972?) the treatments were out-of-date, but the descriptions are terrific. I know there’s a chapter on Sydenham’s Chorea—I’m sure he discusses the personality change that accompanied the rheurmatic fever and movement disorder. The book is in Lexington, so unless I scanned that chapter, which I might have, it will have to wait till I get to that office next month to have a look. I remember the skepticism that initially greeted Sue Swedo—that’s OK—that’s how progress happens. You’ve probably read about the 3 stages of How can this be true—>well maybe—> everyone knows. I can remember reading 5 or 6 years ago something along the lines of “Everyone knows that abdominal symptoms are often part of autism”, That sentence wouldn’t have been published a decade earlier. The same happened with PANDAS and PANS.”
Always the encourager!
A colleague of Dr. Kahler’s in Arkansas, John Slattery, CEO of Meadow Health, wrote this about him, last year (with permission to share):
Stephen Kahler personified a curious mind and was a walking encyclopedia of knowledge. I will greatly miss our conversations, his inquisitive nature, wit, carefree spirit, and gentle soul. As a physician and scientist specializing in pediatric genetic disorders, he had an impecable bedside manner that was centered on the family unit and the child in need of care. Dr. Kahler’s first rule of dealing with pediatric patients is that the mother knows best. He felt his duty was to listen to the mom and help guide her on observations she was seeing on her child and how to best understand what may be factors that are infleuncing the behavior of the child. Given that our clinic at Arkansas Children’s was a multidisciplinary clinic for children with autism and neurometabolic disorders, the observation of a child’s behavior was always an adventure and Dr. Kahler enjoyed the moments…so much so that he would excude, “alright! Who do I get to play with next?!” He was truly a lovely man, brilliant mind, and all around beautiful soul. He will be missed deeply by anyone that knew him, as his curious nature and encylopedic knowledge of genetic disorders, metabolic disorders, pathways, and outside the box thinking couldn’t help but put a lasting impression on you. May he rest in peace and may all of his loved ones know that Steve was truly 1 of 1 and will be greatly missed.“
A dear friend and Colleague and SIMD Member, Dr. VanHove’s Memorial to Dr. Stephen Kahler-
https://www.sciencedirect.com/science/article/pii/S1096719225002070?via%3Dihub
Recently, 13 years after I first reached out to Dr. Kahler by email and 12 years after we met in person in Arkansas, I had the honor of taking a position as the Executive Director of the organization that was near and dear to Dr. Kahler’s heart: The Society for Inherited Metabolic Disorders and sadly, just a few months after starting, I posted his obituary in the society’s newsletter. As I ended my position with SIMD earlier this year, I realized Dr. Kahler was truly a rare bird in all amazing ways: he thought outside the box, he admitted that there were things he did not understand, he stayed curious and kept searching for explanations and answers, and he loved people. I will forever be grateful that the Lord allowed our paths to cross multiple times through out the last 15 years and I look forward to seeing him again one day after our time on this world has ended. Dr. Kahler, rest in peace until we meet again.
