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Case Study Of A New Disease And What A Family Can Do To Help:

Bertrand is a 7 year old born with an unknown disease. He had widespread damage to his nervous system. He had odd behaviours such as staring into space, grinding his teeth and wringing his hands. He had many seizures that required repeat hospital admissions.  He also did not produce tears.

The team at Duke University lead by Dr Vandana Shashi, a geneticist, suggested genetic sequencing of Bertand’s exome. The exome is less than 2% of the total genome. It codes for proteins and gives rise to the vast majority of genetic disorders.

The Duke team thought that mutations on the NGLY1 gene were responsible for Bertand’s problems.  He had a congential disorder of glycosylation or CDGs.

Dr Hudson Freeze, a glycobiologist at Sandford-Burnham Medical Research Institute in La Jolla, CA is the foremost authority on CDGs. He was also consulted.

In order to advance the understanding of Bertrand’s disease, the doctors needed other patients with mutations of the NGLY1 gene. But researchers do not share this information. The field is highly competitive. The first to publish is the winner, in this perverse race.

Bertrand’s father took up the challenge. He published an essay of more than 5,000 words describing Bertrand’s disease. The essay was called, “Hunting Down My Son’s Killer”. He posted this on his personal web site. It went viral.  Eight days later, Bertrand’s father got an email from another father whose daughter Grace had a similar disease.

Grace’s genetic sequencing had been done in Houston by Dr Matthew Bainbridge.  The NGLY1 gene stood out.

Coincidentally, Dr Gleeson, a neurogeneticist from University of California San Diego told Dr Freeze about a Yale neurosurgeon Dr Murat Gunel. He had sequenced the genes of a pair of severely disabled siblings from Turkey. Each had two mutations of NGLY1.

Bertand’s father had through his online essay discovered 9 more patients with mutations of NGLY1.

The information about Bertrand not having a seizure disorder lead to the successful use of two over the counter supplements to manage his disease. The first was highly concentrated cocoa extract. Cocoa improves the cell’s energy production. The second was NAC or N-acetylcysteine an amino acid that help to produce a naturally occurring antioxidant.  These two over the counter supplements have been very helpful in keeping Bertrand out of the hospital.

The parents lobbied the doctors involved to collectively publish a paper on Bertrand’s disease. This was an important advance in collaboration by genetic researchers.  And the NIH or National Institutes Of Health have started to study Bertrand’s disease.

The lesson to be learned from Bertrand’s disease is that the parents of children with other newly discovered diseases should form proactive communities to advocate for research for their children.

Source: The New Yorker, One Of A Kind, by Seth Mnookin, July 21,2014, pages 32-38.