When his son Alexei was first diagnosed with autism at the age of two, Christopher LePoer took some time off work to try to understand why his child couldn’t speak, had highly irregular sleep patterns and walked solely on his toes. After weeks spent ploughing through medical websites and research he came to one unsettling conclusion: scientists didn’t understand either.
He also read that researchers needed brain samples to study the condition, and remembers marvelling at how difficult it must be to collect them. After all, autism, though potentially disabling, isn’t fatal. “I thought, wow, it’s got to be almost impossible for them to get the research materials to find out what they really need,” LePoer says.
Unfortunately, on 13 May this year he suddenly found himself in a position to help them out. At age four, Alexei, the fifth of the LePoer’s seven children, opened a window-screen latch, slipped out of a first-floor window and slid down to the ground. A few minutes later, his body was found in a nearby swimming pool.
A request for Alexei to become an organ donor reminded LePoer of his investigations two years earlier, and he and his wife quickly decided that something good should come out of Alexei’s tragic death. Less than 24 hours later, packed in an ice chest carried by a courier, Alexei’s brain was delivered to the Harvard Brain Tissue Resource Center in a nearby Boston suburb.
Harvard University’s brain bank, which is supported by the advocacy group Autism Speaks, is one of only a small handful in the world that collects the brains of people who die with autism. When Alexei’s brain arrived in mid-May, the collection had about 150 samples – the most anywhere. A few weeks later, though, a freezer containing 54 of the autism samples broke and its two alarm systems failed to sound for reasons that are still unknown. By the time the failure was discovered days later, the brains had thawed and were largely ruined.
Fortunately, Alexei’s brain survived, but the malfunction is a tragedy for others: a devastating loss to many families that had donated a deceased loved-one’s brain, and a critical loss to autism researchers. At the current rate of brain collections, it will take a decade or more to recover the amount of research material and time lost, says Carlos Pardo, a neuropathologist and associate professor of neurology at Johns Hopkins University, who has used the collection for his studies into the role of the immune system in autism.
It is resources that scientists and the community could ill afford to lose, leaving the question of what to do next. After all, how can autism researchers possibly recover from losing an invaluable source of material that was already in short supply?
For every parent who makes the heartbreaking decision to donate their child’s brain to autism research, there are hundreds if not thousands of scientists who are extremely grateful that they have. Studies on donated brains are considered to be the gold standard for understanding the origin and natural course of the condition, as scans don’t have enough resolution to detect any biochemical changes inside living human brains. Animal models can’t help, either. “Mice don’t get autism,” explains Roger Little, a senior advisor at the US National Institute of Mental Health. “The only way we’re truly going to understand diseases [like autism] is to have the tissues in which the diseases occur, as well as healthy control tissues to compare them to.”