In October 2022, Hannah Doyle became a mother for the fourth time. To the angels, she welcomed a little boy named Zander. Unfortunately, the happiness was short-lived. After giving birth, the 36-year-old quickly noticed that there was a problem because her son did not look like her. “When I looked at his eyes, they were really puffy and kinda almond-like. When I did the skin-to-skin, he just looked different from my other babies. I knew straight away he there was something unusual,” she told South West News Service. Guided by her maternal instinct, she asked the doctors to perform tests on her baby.
After several additional tests, the doctors announced sad news to Hannah. Her little Zander suffered from chromosomal deletion syndrome, the absence of part of chromosome 22. According to Orphanet, the portal dedicated to rare diseases and orphan drugs, it is a rare congenital chromosomal anomaly. This pathology is characterized by cardiac and palatal malformations, facial dysmorphism, developmental delay and immunodeficiency. “I was in shock, it was trying and scary because your mind gets a lot of information and you start thinking the worst,” the mum said.
Hannah remains hopeful despite her baby’s illness
Now begins a long wait for Hannah. “Waiting is the hardest thing because for other medical conditions there are more answers. I can’t find anyone with the same chromosomal deletion that Zander lacks, so there’s no one to compare him to.” The mother of the family is also very worried about the future: “This illness could have no impact on him or have one. But the fact of not knowing is difficult because we read things and we wonder if it will affect him.” For the time being, the little toddler, now 10 months old, is doing wonderfully: “He is doing very well, he is a happy little boy.” Zander, who was also found to have two holes in his heart, is due for surgery soon.
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