A Diagnosis: Charlie’s Story

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Kathy Langen is mom to 22-year old Syngapian Charlie. Her story was first published in Reflections, the newsletter of The Camphill School, a residential school in Pennsylvania for children and youth with developmental disabilities.

My name is Kathy Langen and I live outside of Boston, MA.  My son, Charlie, was born in July 2000, and for the first 19 years of his life, every test, every scan, etc. could not explain why he was non-verbal, apraxic, had some features of autism, and was intellectually disabled. It was not until March 13, 2020 (literally the day the country shut down) that I received a call from Charlie’s metabolic doctor with the results of his second DNA sequencing; he was diagnosed with SYNGAP1. That day haunts me as, to be honest, I had shut the door on ever knowing what was wrong with Charlie. I had been on an island with him for so very long.

Hard times and hard decisions

At the beginning of this journey with my baby and toddler, Charlie grew and missed all of his developmental milestones. I immediately sought help, confident I would figure out what was going on. The days of early intervention, giving him “more time,” morphed into years and exhausting visits to specialists all over the country looking for an answer.  But there was never an answer.  Every conceivable test could not explain why Charlie was nonverbal, had severe fine/gross motor delays and apraxia. All the while it was clear he had solid receptive language skills, a great sense of humor, and loved being with others. I will never forget the feeling of utter devastation when I was told that I might never know the cause of this debilitating condition. At age five, he received a diagnosis of pervasive development disorder/not otherwise specified (PDD/NOS) which is an official diagnosis for…no explanation. I stopped searching for the WHY and shifted my focus to the HOW – how to support him at home, how to find the best therapies and how to find an appropriate school setting. 

I live in a very small town and given the complexity of Charlie’s needs, he became an “out of district placement.”  Over the next 10 years he attended four different schools across the state. Unfortunately, none of them worked for reasons ranging from staff inexperience with a nonverbal student with severe fine motor issues, to rigid ABA practices to which Charlie did not respond. During this timeframe, I routinely brought him to Boston Children’s Hospital to meet with his metabolic doctor. In his 35 years of practice, he had never encountered a patient like Charlie and was committed to trying to find a reason that would explain his symptoms. He therefore suggested having DNA sequencing done, which was a relatively new and innovative technology that aims to provide answers to families with undiagnosed diseases. This first round of testing when Charlie was 13 was inconclusive. It would be six years later, per the doctor’s suggestion, that the repeat DNA sequencing would confirm a diagnosis for Charlie. 

As Charlie grew, so did his frustration, and with that his behaviors became worse both in school and at home. He was not making any progress in toileting, dressing, feeding or communication. My school district raised the possibility of a residential placement which literally made me physically ill  to even contemplate.  At the same time it had become painfully clear that I was running out of options; I had tried everything and nothing was working. In retrospect, a residential placement was one of the best decisions I ever made.

Hope arrives

Charlie arrived at Camphill Beaver Run in September 2015 at 15 years old.  He was in adult diapers, drank from a sippy cup, and could barely use utensils. While nonverbal, he had promising communication skills using an iPad and could read and spell many words.  After a predictably rough transition, Charlie made more progress in that first year at Camphill than in any of the ten previous years in multiple programs in Massachusetts. By June 2016, he was out of diapers, eating at a table with a fork, and drinking from an open cup.  He also had a social life and had formed strong relationships with friends, house parents and coworkers. Charlie finally had a meaningful life and was making progress. And for the very first time, I felt optimistic for his future.

Finding Camphill was the best thing that ever happened to Charlie and my family. The progress he has made over what is now the last six-plus years is beyond measure, and I am forever grateful.  Despite this progress, when he returns home for holidays and vacations, life remains a significant struggle. Charlie’s issues are still there. The level of care and support he needs to get through each day combined with his inability to effectively communicate his needs is both physically and mentally exhausting. Written schedules help to manage his expectations, but there are times when he becomes extremely agitated for unknown reasons, and the resulting behaviors are heartbreaking.  

And so it was this past August 2021, roughly four weeks into the summer break on a particularly bad day filled with frustration and tears, I made a commitment to myself and to him to explore the SYNGAP1 diagnosis. I had done some research, but it was not a priority due to the global Covid shutdown and the need to focus on Charlie’s upcoming transition to adult services.  I also had doubts about the significance of this diagnosis at his stage of life, and I questioned the potential impact.  But on that day, I realized if there was something, anything, I could do to improve his quality of life, I needed to do it . Four days after bringing Charlie back to Camphill Beaver Farm, I sent an email to SynGAP Research Fund

Beyond hope–community and togetherness!

Having a diagnosis has been transformative. In connecting with the SynGAP Research Fund (SRF), I found other families who have a “Charlie,” and not just in terms of the presenting symptoms, but who share many of his idiosyncrasies such as a love of elevators, fast rides, music, animals, proficiency using technology, and possessing a remarkable visual memory, to name a few. The first time I spoke with another mom who has a child with SYNGAP1, hearing how extremely similar her son was to Charlie and how her journey paralleled mine had me in tears. 

I found a community of amazing families who offer support and share information/ideas across all aspects of life regarding what it is like to have a Syngapian. Simultaneously, SRF is committed to raising awareness of this under diagnosed disorder and to fundraising for research in order to find a cure utilizing genetic therapies. And they are making incredible progress. The thought of a cure after all these years is something I’m still processing as there are too many unknowns for me right now. But for the second time in Charlie’s life, I have hope. And for the first time I am not alone.