"I asked the doctors why my baby didn't look like me - and their diagnosis shocked me" - Voila! health

5 facts about babies (Walla! |News system)

36-year-old Hannah Doyle gave birth to her son Xander last October - and felt something was wrong from the moment she first held him in her arms.

She said that she had a "gut feeling" that something was wrong and she believes that he himself tried to tell her about it by the look in his eyes.

"I asked the doctors why my baby didn't look like me," she said. "As soon as our skin came into contact with each other, he just felt different from my other babies. I immediately knew there was something different," the mother of four told the Southwest News Service, " When I looked into his eyes, they were very swollen and looked a bit like almonds," she added, "I believe to this day that it was he who told me, because his eyes look completely different now."

Doyle began caring for her baby before he was even born when, at 26 weeks into her pregnancy, it was discovered that he had two holes in his heart.

But after she gave birth and realized that baby Xander didn't look like her other children, she begged the doctors to run more tests.

Zander was indeed diagnosed with a rare syndrome of missing chromosomes - a condition that can cause severe congenital anomalies, as well as significant intellectual and physical disabilities later on.

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The syndrome results from the loss of parts of chromosomes in the body.

There are several known variations of chromosomal deletions depending on location and size.

According to Stanford Medicine, deletion syndrome is the most common, occurring in 1 in 4,000 to 6,000 births.

Children with this syndrome are missing a tiny part of chromosome 22, which can cause a variety of problems, from heart defects to developmental delays and seizures.

There may also be physical abnormalities affecting the appearance of the eyes, nose and ears.

Most children with this syndrome have mild to moderate mental retardation and a delay in speech and language.

Many of them suffer from heart defects, immune system problems and other medical problems.

Some of the people with minimal deficiency syndrome in chromosome 22q11.2 also have autism and some of them develop psychiatric diseases, such as schizophrenia.

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"It was a shock and it felt really daunting and scary because your brain goes into overload and you just start thinking the worst," said Doyle, "It was harder because there wasn't a lot of information about it."

Indeed, Doyle has yet to learn the severity of Zander's symptoms and says it will take time to learn how much the chromosome omission syndrome affects him.

"Waiting is the hardest thing because with any other medical condition, there are more answers," she explained, "I can't find anyone else with the same particular deletion of Zander, so there isn't even anyone else to compare him to."

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"It might not affect him at all, but it might," added the mother, "but not knowing is hard because you read things and wonder if it will affect him."

For now, the 10-week-old boy is behaving just like a normal baby for his age.

"He's doing really well and he's a happy little baby," Doyle said, "he's on formula that helps him grow. Now I think it's more of a massive waiting game, really. Just wait and see."

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