Developing a battle plan against rare diseases

A decade ago, when their son Bertrand was still an infant, Matthew Might and his wife, Cristina, realized that there was something terribly wrong.

When he cried, his eyes stayed dry; the lack of tears damaged his corneas and threatened blindness. Eventually, he suffered seizures, a movement disorder and a severe developmental delay.

It took four years to discover the problem: Bertrand had inherited two mutations of the NGLY1 gene, which plays a key role in recycling cellular waste. That meant the child’s cells were choking on their own trash.

Eventually Matthew Might found about 60 other people with this mutation. He found a treatment for the condition — an unintended side effect of the over-thecounter antacid Prevacid — and started working with a company to produce a stronger version of the drug.

Now director of the Hugh Kaul Precision Medicine Institute at the University of Alabama at Birmingham, he has begun to create a road map for other families facing rare diseases — as much as 10 percent of the population, or 30 million Americans.

The Times spoke with Might about the challenges of finding treatments for these diseases and about the Mights’ experiences with their son. The conversation below has been edited and condensed for space and clarity.

How unusual was what you’ve accomplished for your son — finding other patients and a drug that you’re now working to make more effective?</strong>

At the moment, it seems to be a rare event. But I don’t think it’s going to be all