Waldo couple fights for infant son with rare syndrome

Baby Martin to benefit from March Madness 2013
By Tanya Mitchell | Dec 12, 2012
Photo by: Tanya Mitchell Martin James is all smiles alongside his favorite stuffed monkey Monday morning, Dec. 10.

Waldo — When Martin James was born July 16 of this year, his mother, Emily Desjardins, said he appeared to be a happy, healthy newborn.

But it didn’t take long before Desjardins and her fiancé, Bill James, learned that their son would have a tough road ahead of him.

Doctors at Eastern Maine Medical Center in Bangor went to check Martin’s temperature, which Desjardins explained is done rectally in young babies.

“They went to take his temperature, and they couldn’t,” said Desjardins. “He had no anus. When they told us about it we were shocked; we had no idea.”

Desjardins said she had a normal pregnancy, and in her ultrasounds, Martin’s condition was not detected.

Martin spent five days in the Neonatal Intensive Care Unit, and at 2 days old he underwent a surgery that provided him with a colostomy bag. Desjardins said she didn’t know the full extent of Martin’s medical troubles until she got him home and was reviewing his medical record. That’s when, she said, she first saw the name of the syndrome her son suffers from — Caudal Regression Syndrome.

The syndrome affects one in every 125,000 babies born, and Desjardins said there are three markers that are sure indicators of the disorder. The first indicator, she said, was that Martin has an imperforated anus, meaning his rectum did not grow long enough to function properly. That the couple already knew, but Desjardins said she was surprised to learn that the syndrome also meant Martin’s tailbone was not as long as it should be and that his spine and spinal cord were tethered. That meant as Martin grew, he might have suffered nerve damage that would have impacted his motor skills.

“The spinal cord isn’t made to stretch,” Desjardins said.

Just before Thanksgiving, Martin and his parents traveled to Portland so he could have the surgery that detached his spinal cord from his spine, a procedure that required Martin to lie perfectly flat and still for three days.

“He handled it like a champ,” said Desjardins.

Martin, a smiling little boy who doesn’t pass up the chance to charm visitors with his first attempts at language, has always been a happy baby, his mother said, despite all he has been through in his short time in the world.

“He’s just really inspiring,” said Desjardins of her son. “None of this stuff fazes him.”

Because of Martin’s needs, Desjardins said, she was unable to put him in daycare and return to work. She had hoped to regain her former position at Bank of America, but now she and her fiancé must survive with the income James brings in from his job at Robbins Lumber.

Desjardins said James’ employer has been very supportive of her family in recent months, granting James time off to attend Martin’s appointments in Bangor and Portland. But even with that support and the income, the family has struggled to make ends meet and cannot live without the money James would have to pay out in order to cover his son on his medical insurance. As a result, Desjardins said, Martin is covered through MaineCare.

After doing hours of online research about Martin’s condition, Desjardins said, she went to her son’s pediatrician in Bangor armed with hospital records from Martin’s birth and subsequent examinations. On the doctor’s advice, Desjardins scheduled an appointment with a neurologist and neurosurgeon in Portland.

“At that first appointment we found out we lucked out a lot,” said Desjardins. “We found out a lot of children with this syndrome aren’t able to walk, or they have webbed legs. They said he had no nerve problems, and he was ahead of the curve developmentally.”

But Desjardins continued scouring the web for more information, and one day stumbled upon the site for the Cincinnati Children’s Hospital, a hospital that pioneered a two-pronged surgical procedure that would extend the boy’s rectum so it might function properly. In the second surgery, doctors would reverse the procedure that outfitted Martin with a colostomy bag, Desjardins said. The Ohio hospital’s colorectal center, added Desjardins, has performed more than 6,000 of the surgeries successfully.

The mother also learned that Martin should ideally have the surgeries before he turns 1 year old. That’s because, she said, the after care is quite involved. In addition to monitoring how well the surgical wound heals, Desjardins said, the scar around the newly formed anus would have to remain open, meaning regular dilation and occasional enemas.

“The idea is to get it out of the way before he’s old enough that it really bothers him, and to do it before he starts potty training,” said Desjardins.

But, Desjardins said, the process of getting the care Martin needed grew increasingly frustrating as doctors in Maine told her Martin’s condition was not likely to be reversible. Concerned, Desjardins said she called the Cincinnati Children’s Hospital for a second opinion and learned that unless Martin’s situation was vastly different from that of other babies who have Caudal Regression Syndrome, his prognosis could be good if he is given the proper medical attention.

“They said there’s no reason he should have a colostomy bag his whole life,” she said.

That, said Desjardins, is when the conflict started, in terms of finding a way to get Martin’s procedures at the Cincinnati hospital covered by MaineCare.

“It’s been like a labyrinth of doctors and insurance people,” said Desjardins.

Martin needs to see a colorectal specialist, but Desjardins said there isn’t such a specialist in all of Maine. But MaineCare’s rules dictate that a person must see an in-state specialist before gaining approval to go out of state, Desjardins said, and the next-best option available was Martin’s pediatric surgeon in Portland.

While in Portland last month, Desjardins sought help from the surgeon, only to learn that he would perform the first surgery on Martin at 5 or 6 months of age, a timeframe that differed from what doctors in Cincinnati spoke of — Desjardins said their plan was to complete the first surgery when Martin was at least 8 months old.

Desjardins is now waiting to hear from doctors in Cincinnati after she sent additional records there for review of her son’s condition.

“If they say something different than what was said in Portland, I’m going to be really concerned,” said Desjardins. “I have doctors saying completely different things.”

Next week, Desjardins will go to a hearing regarding her son’s pending MaineCare claim, and there she hopes to illustrate the seriousness of her son’s situation — she said the Ohio hospital staff has told her they would accept MaineCare to cover Martin’s surgeries. Desjardins said that is yet another reminder of how difficult many Maine families have it when it comes to navigating the medical insurance system.

“It’s not his fault he was born to a family without a lot of money,” said Desjardins.

Worried about whether MaineCare would cover the procedures in Ohio, Desjardins said she started considering organizing a fundraiser herself to help pay for the surgery and the associated travel cost for the family. It was a daunting task for a woman who is her child’s constant caregiver, and who must shuttle her son to regular appointments in cities that are at least an hour away.

Knowing her son needed help, Desjardins decided to go to the community in which she and James grew up themselves. She didn’t want to make Martin’s condition public, because she wanted to protect his privacy, particularly since it concerns body parts most people prefer not to discuss openly.

“Now I needed the big guns,” she said. ”If you’re going to ask the community for help, they need to know what’s going on.”

After speaking with a friend of the family, Desjardins found out that the organizers of the 2013 March Madness in the Maritimes were seeking a family to help. Jessica Connor, a co-organizer of the event, was the purpose for and beneficiary of the funds raised at last year’s event. Connor and her family needed to cover the cost of private insurance to pay for brain surgery she needed to correct symptoms associated with a rare brain disorder known as Chiari Malformation. Connor, who continues to recover from the surgery she had in New York last spring, wasted little time contacting Desjardins once she knew of Martin’s situation.

“I wanted March Madness to be going to help someone else, because the community really rallied together to help me when I was the one in need," said Connor. "It's just a way of paying it forward."

Connor added that there are so many people who go without, and she and her co-organizer, Morgan Elkins, felt they could make a small but positive impact on someone else's life.

After speaking with Connor, Desjardins felt encouraged knowing there were people in her community who cared and wanted to help her baby. Desjardins said she hopes MaineCare will cover Martin’s surgeries in Cincinnati so the funds can be used for their travel costs, but if not, she plans to follow Connor’s lead and buy private insurance for her son so he can have the procedures.

Either way, Desjardins intends to save photos, news clippings and other mementos from the March Madness events so Martin will know how his neighbors, even the ones his family doesn’t know, cared enough to come to his aid.

“When Martin’s 5 or 6 years old, old enough to grasp the concept of being grateful and being part of a community, I want him to see that just because you don’t know somebody doesn’t mean you shouldn’t help them,” Desjardins said.

The March Madness in the Maritimes events are scheduled for Friday, March 22, and Saturday, March 23.

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