Soup with Santa to support the medical expenses of a Boonsboro child

On Saturday, Dec. 16, Modern Woodmen will host its 5th annual Soup with Santa event at the Maugansville Ruritan Club to benefit Sean Loughlin, 7, of Boonsboro, and his family.

Participants at the event will meet up with the jolly man in red and have a meal of soup, sandwiches, chips and dessert. That simple act of eating a typical meal is an activity in which Sean is unable to participate.

Born with a mitochondrial disease known as complex one deficiency due to Leigh Syndrome, Sean's body is unable to break down most food into usable energy, his mother said. In fact, eating as most people do causes him intense negative reactions.

Soup with Santa is from 10 a.m. to 3 p.m. and costs $7 per person. The event includes live music with Kevin Booth. Free e-pictures with Santa will be from 10 a.m. to 1 p.m. And there will be silent and live auctions throughout the day.

The journey

Sean's mom, Christine Loughlin, a 47-year-old mother of four, said she first noticed something was amiss in 2010 when Sean was about 3 months old.

"He wasn't growing like he should and he was throwing up a lot and having a lot of diarrhea. He was having trouble eating and nursing. And he wasn't meeting milestones. I knew early on something was really wrong," she said.

Loughlin's pregnancy had been normal. One of her daughters, who is now 15, had similar issues as a baby so Loughlin thought perhaps it would pass. But Sean's problems continued and were far more severe. She took him to the pediatrician and he was diagnosed with a dairy allergy. Loughlin cut out dairy, including milk, as well as soy.

"A lot of times when kids are allergic to milk, they are allergic to soy, too," she said. "I wasn't getting enough nutrition in my body to sustain milk production, so I had to switch to formula, because he was getting angry and starving."

Doctors recommended various specialized formulas. Sean improved only minimally, and soon after when he started eating baby food, his symptoms including vomiting and diarrhea worsened again. He developed rashes, and he regularly overheated and turned "beet red."

"He had ear infections a lot of the time," Loughlin said. "He wasn't sleeping well at night. He was crying a lot. When he ate food, he did not digest it. It came out exactly as it went in."

Sean had been a remarkably "easy" baby to care for when he was born, she said.

"He went from being a compliant, sweet, easy-going baby to a little guy who was just miserable all the time," Loughlin said. "He was my fourth baby and he was the only baby that as soon as he was born, he just looked around at everything and everyone, soaking up as much as he could," she said. "After having (four) kids, I could tell something was really, really wrong."

Loughlin began to keep a spreadsheet of his symptoms.

"There were so many different things happening with his body systems. Things were just going so wrong. I kept taking him in and out of the doctor," she said.

After she exhausted options locally, Loughlin and her husband Robert, 51, took Sean to Johns Hopkins Medicine in Baltimore, where he underwent testing including an endoscopy, a celiac profile and cystic fibrosis screenings. Results revealed damage to his esophagus, in part due to the problems he was had with digestion.

Doctors suggested trying another formula, Nutramagen. Sean seemed to reasonably tolerate that, but still was not digesting any solid food, so Loughlin tried systematically adding one baby food at a time.

"The longer he would eat a specific thing, the worse his reactions would become, so we knew it was not food allergies," she said. "We realized that his body did not have the ability to break down any of it and turn glucose into energy."

One test indicated that Sean was unable to metabolize sugars, starches or dairy, but Loughlin felt that in terms of his care, they had hit a brick wall.

She switched to an amino-based formula, visited a gastroenterologist in Rockville, Md., and sought treatment for her son at Children's National Medical Center in Washington D.C., where Dr. Kimberly Chapman ran an extensive series of genetic and exome testing. Laughlin credits Chapman with finally providing an accurate diagnosis of mitochondrial disease for Sean during 2014.

"(Sean) showed up as the only one in the world having this particular problem, this specific malfunction. That's why they were having such a hard time treating it and diagnosing it properly, because they didn't have anyone else to go on," Loughlin said.

Sean also has epilepsy and markers for Leber hereditary optic neuropathy.

'A joyful child'

Day to day, Sean and his family are significantly affected by his condition. His mother homeschools him, in part because he does not have the immunity to fight off diseases he would encounter at school. He does not respond to vaccines, and he can't tolerate medication because he is unable to metabolize the binding ingredients. Like carbohydrates and sugar, those substances build up to toxic levels that are a detriment to his major systems.

Sean is unable to regulate his body temperature and he needs to wear a cooling vest. Even during winter, his family sleeps with the heat turned off because he gets so hot.

"He will be in so much pain in his muscles sometimes that he can't walk. He will have to have us carry him to the bathroom," Loughlin said.

Sean receives nearly all his nutrients through formula and a tube, occasionally orally ingesting only plain proteins like a few bites of ground beef, chicken or salmon. He has developmental delays which impact him academically, but his challenges don't stifle his spirit.

"He is amazing. He is the happiest kid," Loughlin said. "He is still a joyful child."

He loves baseball, football and basketball and plays team sports.

This year, he had to forego football because of an eight-day hospitalization in July. He had a gastrostomy tube placement for feeding, a procedure on his esophagus, and a muscle biopsy for additional mitochondrial testing.

Treatments, supplies and procedures present exorbitant expense and time consuming communications with the family's medical insurance, which Robert provides through his work as a contractor for the National Institutes of Health. Doctors often need to write repeated letters to get testing covered, and Sean's medications are not covered as they need to be compounded in an unusual pure powder form. At some points, insurance would not pay for formula, which cost $600 to $1,000 a month.

"Things were just progressing to the point we could not afford it anymore," Loughlin said.

Proceeds from the Soup with Santa event will offset some of that expense. Modern Woodmen Chapter 15456 will match up to $2,000 of net proceeds.

Loughlin is not sure what to expect for Sean's future, as his condition is so rare. Though he had stopped growing for three years, since his surgery in July, he has gained 10 pounds and grown 1 inch.

"It was so exciting. I was like 'Wow! He has never done that before!'" Loughlin said. "Doctor aren't sure what to do because they have never seen this before. It's not fun being the one paving the way."

WHAT: Soup with Santa fundraiser for Loughlin family of Boonsboro

WHEN: 10 a.m. to 3 p.m. Saturday, Dec. 16

WHERE: Maugansville Ruritan Club, 18007 Maugans Ave., Maugansville

COST: $7 per person

CONTACT: Call 301-991-0541 or 301-991-7799; email lynnbbee@aol.com or Richard.L.Bibbee@mwarep.org or go to www.woodsetter.com/soup-with-santa.html