After losing four children, Amy and Jason Marquis were devastated to learn of their daughter's Leigh's Disease diagnosis

By Cathy Free
Updated August 21, 2015 11:15 AM
Credit: Catharine Morris Photography

After losing four children under the age of 2, Amy Marquis and her husband, Jason, of Derry, New Hampshire, were elated to learn they were expecting twins in 2013. Carter and his sister, Riley, were born healthy and appeared to be thriving, but then another sad turn interrupted the family’s lives.

Riley wasn’t rolling over, gaining weight or holding her head up like her twin brother, and she wouldn’t eat or cry, even after falling on her head while trying to pull herself up on a kitchen chair.

“She didn’t feel pain and she didn’t even cry when she hungry,” Amy tells PEOPLE. “When we got her ears pierced, she didn’t feel it. I was told that it’s normal for twins not to progress at the same rate, but this was something else altogether. I just knew that something was wrong.”

After several months of testing, Riley was diagnosed in March 2014 with Leigh’s Disease, a rare inherited neurometabolic disorder that attacks the central nervous system and has no cure. Doctors told the Marquises that Riley would continue to lose mental and motor abilities and would be dead within months.

“Go home and hug her tight,” neurologist Gail Schuman told Amy at New Hampshire’s Hospital for Children, after delivering the crushing news. “You don’t have much time.”

The Marquises had already lost triplets in 2010 (one from a miscarriage, with the other two dying at 23 weeks when her water broke and there was no chance of viability) and a three-month-old son, Zach, when he suffocated in a playpen during his nap at a daycare provider’s house in 2012. “When the provider found him, he was blue and face down,” says Amy. “He was my rainbow child. Losing him was devastating.”

“Sitting in Schuman’s office with Riley that fateful day in 2014, she and Jason were overwhelmed with anguish.

“As a mom who had already buried four kids, it was devastating to have to go home and tell my parents and other relatives,” says Amy, 36, who works as a federal government defense contractor. “How much more could one family take?”

Amy and Jason decided right away that they would make their daughter’s remaining time with them as comfortable and enjoyable as possible. Although they were encouraged to put Riley in a rehab center or hospice, they refused, instead insisting on learning to operate a venilator and clean out her breathing tube, which was surgically implanted in July 2014 during her tracheotomy.

“Coping isn’t an option – it’s something we do every day,” Jason, 38, a telecommunications worker, tells PEOPLE. “I would give anything to trade places with her, but I will never stop caring, loving, providing and giving hugs and kisses for as long as I can.”

One year after her surgery, Riley, now 2, requires a ventilator only when she sleeps, defying her doctors’ predictions. But the Marquises know the day will come when they have to prepare to say goodbye.

“Until there is a cure, Leigh’s Disease is a death sentence,” says Amy. “Riley was given to us for a reason, so we’re hoping through her Facebook page, she can teach the world about the disease and give people hope, especially other families who are going through the same thing as we are. I don’t know how much time we have left with Riley, but we’re planning on making the best of it.”

Riley is more interactive today and smiling and alert,” neurologist Schuman tells PEOPLE, “and her family fights very hard for her. With support, her lifespan may be extended, but this is a disorder with a poor prognosis.”

Amy and Jason have connected with other parents who have lost children to Leigh’s Disease, including Dawn Kenney of Victorville, California, who lost her 6-year-old daughter, Autumn, in May. During Facebook chats, Kenny showed Amy pictures of her daughter’s journey with the disease and encouraged her not to stop looking for ways to prolong Riley’s life.

“I want Jason and Amy to know that the one thing this disease can never take is their love for their daughter,” Kenney, 38, a stay-at-home mom with six children, tells PEOPLE. “This disease has broken my heart into pieces, but I want [the Marquises] to know that Riley can still have a good quality of life with her trachiotomy, just like Autumn did. This disease gave me the power to fight harder than I ever could and has shown me I could love more than possible. I want the same thing for Amy and Jason.”

Amy confesses that there are days when she is brought to tears by the sight of other children Riley’s age climbing playground equipment at the park or running freely down the sidewalk.

“I think, ‘Oh, how I wish she could be like that,'” she says, “then Riley will smile at me and I realize that even though she’s going through the worst thing in the world, she was given to us for a reason. Even through her pain, she is happy. Each and every day, she is an inspiration.”