Young boy with fatal condition survives against the odds

Jan 21, 2009 / 18:34 pm

A three-year-old boy with thanatophoric dwarfism who was not expected to live long after birth has come a long way. Ignoring the typical medical advice to either abort her child or not provide life-sustaining treatment after his birth, his mother gave birth to the boy she describes as a charmer with an engaging smile.

Lively young Samuel Mann lives in Tampa Bay, Florida with his parents Ralph, who is a 51-year-old lighting installer, and Evelyn, 43. In a Wednesday phone interview with CNA, Evelyn spoke about the joys and struggles of raising Samuel and about the family’s recent trip to Disneyworld.

Evelyn, a claims processor at an auto company, told CNA that Samuel is “a ham.”

“He’s full of life. He smiles and he laughs and he has a way of communicating without saying words, because he’s not speaking yet.”

Three years ago, medical tests about 20 weeks into Evelyn’s pregnancy made Samuel’s future look bleak.

“We were told about week 20 that there was a problem. We actually didn’t believe the first doctor, and we couldn’t find anybody to get a second opinion in Tampa, so we actually drove to Orlando.”

There a geneticist said Samuel had either brittle bone disease or thanatophoric dwarfism.

“I give that geneticist kudos for acknowledging my faith, because that was another really hard thing,” Evelyn commented. “We trust and believe in God, and some didn’t want to acknowledge that side of us, but that geneticist did.”

Pregnant women whose unborn children are diagnosed with thanatophoric dwarfism are often advised to undergo “therapeutic” abortion. If the baby is born, parents are advised to refuse life-sustaining treatment.

Evelyn told CNA that the doctors “looked depressed” when she and her husband left the office because it was a “lethal diagnosis.”

“I don’t think you’ll find a picture of a survivor in a textbook,” she remarked about Samuel’s odds.

Instead of Death, Life

“When we left there, I felt like God gave us a peace that passes all understanding. It was really amazing. Both my husband and I were just at peace.”

“Somehow in our hearts we knew, and I think that was a gift from God, that it was all going to be okay.”

Despite complications from polyhydramios, which is a condition of excess amniotic fluid, Samuel was delivered by C-section 35 weeks into the pregnancy.

His first weeks home were toughest on his parents.

“If he disconnected from his hoses, we had to get him hooked up immediately or he would turn blue,” she reported.

“Initially, it was like that, touch-and-go. My husband would take the night-shift.”

Doctors had to give Samuel a tracheotomy and a ventilator because of a lung deficiency, a condition that is still with him, Evelyn explained.

Samuel still has times of troubled breathing, which require doses of abuterol. He also requires a treatment to remove fluid from his lungs.

Because his ribs are thick and rigid, Samuel lungs can press down on his stomach, but Evelyn doesn’t think it will become a big problem. “He’s a dwarf, so he’s a little guy,” she said, saying his small size and little growth may render this issue less of a problem.

“Now he is a lot more stable,” she said, reporting that Samuel is even going off the ventilator for short trial periods.

Though Samuel also requires a gastric tube, he now eats “very voraciously.”

“He enjoys eating. That’s a real surprise. It’s very unusual for him to take to eating the way he has.”

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Evelyn told CNA her son, like other children, likes to crawl and play with balloons and toys. Noting his condition’s description “thanatophoric” derives from the Greek word meaning “death-bringing,” she joked that it really should be called “life-bringing.”

“He’s a joy, I don’t know how else to put it. One of the doctors said that he looked at his x-ray and looked at Samuel’s structure, and then looked at Samuel sitting on the hospital bed smiling.”

“The doctor said, ‘The two pictures don’t match!’” Evelyn told CNA.

Addressing other women who face such trials, she said “My heart goes out to women who are pregnant and are given negative diagnoses.”

She said she has corresponded with other women whose unborn children have thanatophoric dwarfism or other severe conditions.

“We’ve lived this journey, and we want to be able to hold a hand out to those behind us and say ‘Look, nothing is impossible with God’.”

She further advised “Pray, believing what God can do, not pray ‘hoping’.”

“What ultimately happens is what’s up to God, but for us he’s given us a beautiful son.”

Offering Hope

Evelyn told CNA how one woman she had conversed with wrote back after her child’s death.

“She said ‘thank you for giving me hope,’ even though it wasn’t the result that we would hope for.

“She at least during that process had hope, and that means a lot to me. Only God knows, he’s the only one that knows, and I don’t think that hope should be taken away from anybody.”

Reflecting upon her pregnancy with Samuel, Evelyn suggested that “the biggest thing that the medical community isn’t equipped to provide is hope.”

“Given a negative diagnosis, I didn’t feel like I was receiving hope from the medical community. I had to get that from my own faith, as well as the prayers of people at church and family and friends. I think it’s really important that no pregnant woman with a negative diagnosis should be deprived of that hope.”

The Manns themselves found joy when Samuel and his family, with the assistance of the Make-A-Wish Foundation, recently visited Disneyworld in Orlando, Florida.

“The joys are just seeing him smile and laugh,” Evelyn said. “At Disneyworld, they put us to head of the line, with Disney characters. At one point Samuel was laughing and smiling, and at that moment I looked over and all of these people were smiling too.

“His smile is so engaging,” she said.

Their Orlando trip also included a visit to SeaWorld, where the Mann family passed through a walkway surrounded by an aquarium of fish.

“He loved it!” Evelyn said of Samuel. “He was kicking his legs and he was smiling. My heart was full. I was so happy he could see something he could enjoy so much.”