Monica Meyer is a dedicated consultant and trainer with over 25 years of experience in teaching, training, and advocating for evidence-based supports and services that improve the lives of people with autism, developmental, and intellectual disabilities.
She is also Mom to two adult children, including 40-year-old Michael, who was diagnosed with SYNGAP1-Related Disorders in 2019. You can read Michael’s SYNGAP1 Warrior Story here.
Editor’s Note:
Our patients–our kids–are sick for life. Until we develop therapies to address the root cause of their condition – too little SynGAP protein – we are left managing and mitigating their symptoms. For now there are no treatments for intellectual disability, but there are treatments for epilepsy, behavior and sleep. Most people start with anti-seizure medications (ASMs) and our patients will stay on these for the foreseeable future – years if not decades.
The physicians we see for these drugs are rightly focused on managing symptoms now and bringing us relief. But they don’t always have the time, training and/or bandwidth to think about the long term implications for the patient. So it comes to us, moms, dads, sisters, brothers, the caregivers. We don’t need more to do, but we must insist on looking at medication load via this lens. For example, if ASMs reduce bone density, what can we do? How do we know it’s working, why aren’t we getting bone scans? If behavioral meds impact weight, what options do we have to mitigate metabolic disease associated with weight gain?
I am grateful to Monica for sharing this story, she has moved mountains for Michael and built her life around giving him every opportunity. She is remarkable. If this happened to him, we all need to be acutely aware of the risk and manage against it.
This article should inspire you to read and share a medical literature review on ASMs and bone health, written by SRF’s Clincal Lead, Dr. Marta Dahiya. You can also watch a YouTube video from Kelli McIntosh, Mom to Syngapian Kyle, who had an experience similar to the one in this blog post. Here is an update on her ongoing struggle with bones and how it affects their life.
Michael’s SYNGAP1 Journey
Wrapping my head around the continued process of one diagnosis after another in Michael’s lifetime has been more than a journey less traveled; it’s been a marathon of emotional highs and lows. Michael, my son, is now 40 years old. His life has been a testament to resilience, navigating through the relentless waves of medical challenges that seem to ebb and flow with each passing year.
Michael’s early years were marked by intractable seizures, which eventually led us to the diagnosis of SYNGAP1 in 2019. SYNGAP1-Related Disorders (SRD) is a rare genetic condition that affects the central nervous system, presenting with a constellation of symptoms including intellectual disability, epilepsy, autism, sensory processing issues, hypotonia, and unstable gait. It also brings challenges like language delays, emotional and behavioral difficulties, sleep problems, and motor delays. For those who haven’t encountered this condition, it’s a whirlwind of complexities that can be difficult to grasp fully. But for me, finding out about SYNGAP1 was a bittersweet revelation—it was a crucial piece of the puzzle, and suddenly, I found my people.
Fast Forward to Today
Michael’s journey continues with the familiar ups and downs of managing his condition. His seizures persist, requiring ongoing medication adjustments, dietary changes, and even a procedure for replacing the battery in his Vagus Nerve Stimulator. Despite our best efforts, a recent incident brought new challenges. While walking across the living room, Michael experienced a drop attack, causing him to fall heavily and breaking his left leg in three places. The severity of the fractures necessitated orthopedic surgery to repair the damage with a rod and other hardware.
During his hospital stay, a hospitalist inquired about Michael’s medical history, particularly any family history of osteoporosis. He was concerned about the complexity of Michael’s leg break at such a young age—40 years old. This prompted a discussion about the long-term effects of antiseizure medications. The hospitalist asked if Michael had ever taken medications like Tegretol or Depakote. I recalled that he had, though I couldn’t specify the exact ages.
Side Effects Discovered
It turns out that some anti-seizure medications, especially older ones, are linked to an increased risk of osteoporosis and bone density loss. Medications like Phenytoin (Dilantin), Carbamazepine (Tegretol), Primidone (Mysoline), Valproic acid (Depakote), and Phenobarbital are known culprits. While the exact reasons are unclear, it’s suggested that these medications might lead to increased turnover of vitamin D and impaired calcium absorption. Michael has always struggled with low Vitamin D levels and takes 5000 IU daily, but the cumulative effect of these medications over the years has evidently taken a toll on his bone density.1
As a parent, I thought the days of navigating Michael’s diagnoses were behind us, but it seems that this journey is far from over. I find myself trying to adjust Michael’s environment to reduce the risk of falls, exploring every avenue to manage his condition better. The reality that medications prescribed in the past, which once seemed like small tablets of hope, have now led to significant side effects is both disheartening and eye-opening.
Resulting Suffering and Damage
Michael came home from the hospital (Sept. 2024), but will likely require a wheelchair until November or December. He is currently unable to bear weight on his leg and is confined to a hospital bed. This necessitates 2:1 support for positioning and transferring Michael in and out of bed, including to a bedside commode several times a day.
This situation has been an immense source of trauma for him, his family, and our village of support. I hope the images below provide a clearer understanding of the extent of Michael’s suffering and the impact of his condition. It is imperative for the medical team to consider the long-term side effects of anti-seizure medications (not to mention all medications that will be taken for life) and address them proactively while considering prescribing any.
Advice Based on Hindsight
If I could go back and offer advice to myself or other parents in similar situations, I would certainly advocate for a more thorough exploration of the side effects of medications. In today’s world, with the internet at our fingertips, there’s a wealth of information available. I would have used it more proactively, perhaps with a stronger advocate’s voice and a keen eye on diet and supplements.
For young families navigating similar challenges, my message is clear: be vigilant about understanding the side effects of medications. The Canadian Society of Pharmacology and Therapeutics notes that while the reasons for secondary effects like bone loss are not fully understood, awareness and proactive management can make a significant difference.2
Michael’s journey is ongoing, and though it’s filled with unexpected turns, it’s also a testament to his strength and our unwavering commitment to finding the best possible life for him. Each step forward, each new piece of information, and every bit of progress is a victory in itself.
Citations:
Here is Kelli’s March 10, 2026 update: