Boy Making Strides Against Autism, MD

Connor Mullaly and his family have faced hurdles few can imagine.

The 5-year-old Windham boy has a disease that impacts one in 3,600 boys – Duchenne Muscular Dystrophy. The genetic mutation is fatal, and according to his mother Kira, the average life expectancy for patients is age 25.

The disease, which was diagnosed two and a half years ago, would be difficult on its own. But now the family of six faces a new challenge as Connor has been diagnosed with Pervasive Developmental Disorder Not Otherwise Noted, which is part of the autism spectrum.

Altogether, Connor is a big challenge. Physically, he is at the age where he can still walk – jump even – but most kids with Duchenne are confined to a wheelchair by age 12.

Mentally, Connor has a hard time retrieving words. He also gets obsessive compulsive at times.

"We have to do a lot of guessing to find out what he wants," said Kira. "He gets upset when things aren't quite right."

Given his age, academic pieces are also missing, such as the knowledge of colors.

Connor currently attends special education preschool, but will transition out for the fall. He also takes part in therapy at Northeast Rehabilitation Hospital.

His mother, the consumate planner, said that her son's condition has made her "appreciate the here and now" a little bit more.

But she still plans for the future, although she and her husband Jon have reasons for hope.

Start with the progress that Connor has shown from therapy and two years of preschool.

For the last two years, a benefit hockey game has taken place in Burlington, Mass. titled "Connor's Crusaders." The game is always a clash between Atlantic Ambulance Services of Peabody, Mass. and the her husband's larger company of Cataldo Ambulance Service.

To Kira's amazement, her son was recently able to communicate everything he remembered about last year's event.

"Last year, he never would have been able to tell us this stuff," she said. "He said, 'I remember the string.' And I said 'Oh, the microphone with the string.' And then he started singing 'La la la la la' referring to the Star Spangled Banner."

Kira said that a person who visits the house from the school was equally amazed at Connor's progress.

"It takes him a while longer, but it makes it that much sweeter when he actually makes a huge milestone," his mother said. "It's fantastic to see him grow and to actually stop and think and communicate well what it is that he wants.

Connor can even stop himself and calm himself down before he has a breakdown, which didn't used to be the case, Kira said.

He is also getting better with his siblings – older brother Liam (7), younger brother Declan (3 and a half) and younger sister Keely (2).

"Towards the end of the afternoon when fatigue and sensory overload are playing a bigger part, (Connor) has a hard time coping when other kids are around, but when they're playing and it's a good time, they're all really good," said Kira.

Hope doesn't just come to the Mullaly family through Connor's visible progress.

The U.S. Food and Drug Administration is reviewing the drug eteplirsen, made by Sarepta Therapeutics of Cambridge, Mass.

The drug has not been formally filed for approval yet, but Kira said that trials are currently underway, and that two women in Vermont and Massachusetts even went to the FDA to lobby for the drug's approval.

But until that day comes that a drug for Connor's disease is on the market, his mother, despite being the planner that she is, will live in the day to day.

In 12 days, the ambulance employees will hit the ice again in Burlington. Connor will be there as usual to drop the puck. All proceeds from the event will go to his Special Needs Trust Fund.

The event will take place at the Burlington Ice Palace.

For more information on Connor and to learn how to donate to Connor's Crusaders, visit here.