Local Family Launches Fight Against Rare Genetic Condition

When Peter and Elin Anderson of North Andover heard their son's diagnosis, they didn't know what to make of it. In fact, they didn't know what it was.

That's because Adam, age 3, was fiagnosed with MECP2 Duplication Syndrome, a rare genetic condition first discovered in 2005.

With MECP2 Duplication Syndrome, the patient -- mostly found in boys -- has an area of the X chromosome, including the MECP2 gene, erroneously duplicated.

Symptoms of MECP2 Duplication Syndrome include "infantile hypotonia, mild dysmorphic features, developmental delay, absent to minimal speech, recurrent infections, progressive spasticity especially of the lower limbs, ataxia, autistic features and seizures," according to the Rhett Syndrome Research Trust.

MECP2 Duplication Syndrome is not to be confused with Rhett Syndrome itself, however, in which the MECP2 gene is mutated or deleted.

Rallying the Troops

Having a diagnosis of a fairly newly-discovered medical condition can be terrifying, especially when it involves ones children.

But the Andersons didn't let fear of the unknown keep them down. Quite the opposite, actually. They brought families of children diagnosed with MECP2 Duplication Syndrome together from across the globe and mobilized them on a quest for answers and a possible solution for their children.

In February, the 401Project (www.401project.com) was launched by more than 200 families from across the globe united by MECP2 Duplication.

And on Saturday, May 12, from 7 p.m. to 12 a.m., the Andersons will host the "All 4 Adam" fundraiser at the VFW Post 2104, 32 Park St.

“Donating to our cause can help thousands of boys like Adam,” said Elin Anderson, Adam’s mother. “With the money raised, there is both hope and the possibility of life without devastation and instead, endless possibilities.”

All 4 Adam will feature live entertainment, raffles, auctions, refreshments and more. Tickets are $25 and can be purchased by emailing all4adam2012@gmail.com. Tickets will also be available at the door.

Money will go toward funding a research study focused on reversing the symptoms of MECP2 Duplication Syndrome.

For more information about the All 4 Adam benefit, visit the event Facebook page at https://www.facebook.com/#!/events/144937398962544/ 

If you would like to donate to the 401 Project, visit http://www.401project.com/for-adam/.