‘God’s little miracle’: Local family looking for answers after baby born with one-of-a-kind genetic condition

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KANSAS CITY, Mo. -- Welcoming a new baby into the world is a life-changing experience.

For Nicole Bland and Joshua Webb, it was literally a miracle because their son, Josiah, was born with a rare genetic condition.

“My love for him is just unconditional. I look at him and just can't stop smiling. He brings so much joy into my life,” Webb said.

But the joy of having a new baby didn't last long before feelings of fear and anxiety over the unknown took over. 

“When he was born, we were shocked. We didn't know what's going on,” Webb recalled.  

“The first thing they said was, ‘I’m sorry, we don't know what he has, and we don't know how long he has to live,” Bland said.

Little Josiah's features indicated something wasn't right. His eyes were set far apart, his ears were smaller, and his face was abnormally shaped.  

“When you have a baby, you know, the most precious joy is in your life at that moment, and I feel like that moment was crushed and taken from us,” Webb said.

But no one can take the love Josiah's family feels for him, especially big brother Antonio. 

“He’s 12, and when we explained to him that he had a baby brother, and that he was special and he was different, he came up and saw him and he said, ‘Mommy, there’s nothing wrong with Josiah. He’s perfect just the way that he is, and I love him no matter what,’” Bland said.  

When Josiah was born in September, doctors at Shawnee Mission Medical Center were shocked because they had never seen a baby like him before.

Josiah was transferred to Children’s Mercy Hospital where he’d been monitored in utero and diagnosed him with Craniosynostosis.

But his parents soon found out that couldn’t be the case. 

“So we went from him having a skull that fused too soon, to not really having one at all. So he has no top skull,” Bland described.

Dr. Bonnie Sullivan is a pediatric geneticist at Children’s Mercy, and talked about Josiah’s incredibly rare gene pattern

“Acrofacial dysostosis, and that means some of the bones in the face and the head haven't developed quite right,” she explained.

Josiah is the only one in the world with his gene pattern.

“The specific gene that causes this polar 1A, and what that means is there's a spelling change in that gene that caused the bones of the skull to not form quite right," Sullivan said.

"And he is the first one with the specific spelling change, which is why we think it was the skull bones, not the jaw, or the nose or the cheekbones that have been previously reported."

Josiah is fed through a tube because he can't swallow because his gag reflex is weak. He wears a helmet to protect his brain, but he can see and he can hear.

But because he is the only one with that gene misspelling, the doctors can't say what his future will be. 

“You know, it's a struggle every day. I pray and ask God to give me what to do because I don’t know. Every day I don't know, and I just have to ask for his help because if I don't, then I'll be lost or I'll break down,” Bland said.

She wants to tell her son’s story so his little life will make a big impact in the medical field.

“They've already put him in the medical book, are going to put him down as the first person to have this gene,” she said.

And with every first that Josiah accomplishes, like smiling, sucking on a pacifier and clutching his toys -- things he wasn’t supposed to do -- his parents consider themselves blessed to be his parents, no matter what the outcome.

“I always look at it like, ‘OK, God, you gave him to me for something, so guide me,” Bland said.

“He’s definitely a blessing, a blessing to all of us,” Webb said.

Josiah's story takes on a special meaning to FOX4's Kathy Quinn, as his mother is Quinn’s cousin, who reached out to FOX4 to help find some answers.

Specialists at Boston Children’s Hospital have been sent Josiah’s medical records with hopes that they’ll be able to get some answers. 

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