Guest blogger & TACA Physician Advisory: Dr. Elizabeth Mumper
The mother was beautiful, smart, and resourceful. She dedicated most of her life to the care of her son who had autism. Her voice cracked during her phone call when she told me, “my son died during the night.”
Her son was 20 years old. He had a severe reaction to the DPT vaccine when he was 18 months old, and as a result he was airlifted to the closest university medical center. Within days he regressed into autism. Over the years he developed horrible seizures, which were difficult to control despite a series of anticonvulsant medications, targeted nutritional interventions and ultimately the implantation of a vagal nerve stimulator in his chest.
The family was devastated and I felt powerless.
Thoughts swirled in my brain about what had happened (I suspect he had a prolonged seizure in his sleep and developed hypoxia) and why bad things happen to such good people (I don’t know). In the chaos of trying to help the family cope with such overwhelming emotions, I got the idea that maybe something that could help another family might result from studying his death. I approached them about contributing his brain for research. In the midst of the most devastating time a parent can endure, they agreed.
More chaos ensued as we contacted the University of Maryland Tissue bank, the local pathology department, and the funeral home to make all the arrangements. Time was of the essence, to prevent post-mortem changes from interfering with the information that could be learned from his brain.
A few days later I went to his funeral, where bright balloons were released into a beautiful blue sky to commemorate his life. That was over 3 years ago.
This June, a freezer malfunction at a Harvard-affiliated hospital severely damaged one-third of the world’s largest collection of autism brain samples, which were owned by Autism Speaks. (1) Other brains in the collection were from patients with Parkinson’s, Alzheimer’s, or schizophrenia. Somehow, the high-tech security system designed to protect this precious collection failed in the most perfect way. Neither of the two alarms in the security system sounded as the temperature rose by nearly 90 degrees from a polar freeze to a chill you can find in your refrigerator. Meanwhile, the external thermostat checked daily by staff inaccurately reported the expected, not the actual, temperature.
Direct neuroanatomical research is an integral component of autism research as a whole, yet as this incident demonstrates in such a devastating way, it is also vulnerable.
Carlos Pardo is a neuropathologist at Johns Hopkins. I first learned of his vital contributions to autism research when I read the so-called Vargas paper, which demonstrated neuroglial activation in the brains of people with autism. I heard Diana Vargas present the paper during a meeting at the National Institutes of Health when I was working with a group on environmental causes of autism. Their work, based on pathological studies of brains obtained from people with autism, changed the way I viewed autism and has played a crucial role in the way we have presented the paradigm of autism as involving a complex interaction between the immune system and the brain. I show Dr. Pardo’s slides in many of my lectures.
Dr. Pardo was quoted as saying “The damage to these brains could slow autism research by a decade as the collection is restored”. Dr. Francine Benes, director of the Harvard Brain Tissue Resource Center, said “This was a priceless collection.’’
I think not only of the lost opportunities for research, but of the family stories behind each one of those brain samples, belonging to real people who had autism. I think about how each family who contributed to the brain bank made decisions for the greater good at a time of great personal suffering.
An investigation is underway.
Author: Elizabeth Mumper, MD Founder, Rimland Center