Extremely Rare Syndrome Has Teenage Boy Trapped In A Toddler’s…

Meet Angus

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Angus Palmes from Macclesfield, Cheshire is a 13-year-old boy, but you’d never know it from looking at him. It all started when his mother Tandy was pregnant with him in 2004. She already had a perfectly healthy two-year-old boy and she knew that something was very different about Angus. He hardly moved in her womb.

Tandy said, “When a child’s born they do the regular tests on them and he didn’t respond accordingly so he was taken into special care. We were going to be released after 10 days and unfortunately he had a seizure and I think we got home after about two and half weeks.”

Even after taking him home, Angus was being subjected to many tests, and they finally found a likely problem. Tandy recounted, “We had no idea there was anything wrong, although they had their suspicions. So they basically took us in an ambulance and we went to one of the Manchester hospitals and they did some genetic tests. Three weeks after that they were able to tell me that they’d found this unique chromosome abnormality and they found it by accident.”

Abnormal Chromosomes

This abnormal chromosome was diagnosed as the translocation of 15/22 with partial trisomy of 22q12.3. Although they knew where the abnormality was located, doctors were unsure what it would mean for this infant’s future. She continued, “Doctors examined him and could only call his condition ‘personal syndrome’ because they couldn’t find another case of it.” There are people with similar conditions, but none exactly like his.

Angus is currently 13 years old; he weighs just about 30 pounds and stands three feet and one inch tall. Angus looks very much like a toddler.

Though the doctors didn’t believe that he would live for very long, Angus is continuing on quite well. Tandy said, “He takes 250 doses of medicine each week and has been defying doctors for more than 10 years.”

His mom prefers to say that he has “happy syndrome” because she believes that despite his abnormal body, he’s quite happy. She said that “he laughs so much.”

Daily Life

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Angus may be outliving the doctors’ expectations, but it’s not without serious medical intervention. Tandy said about his recent accomplishment, “He’s actually standing on two feet and almost walking, at some stage they thought that wouldn’t happen. He had an operation earlier this year and it’s been completely life changing because before that he had acid reflux.”

Tandy continued about his numerous operations, “He’s had open-heart surgery, his feet corrected with something called Ponseti treatment, the fundoplication for his gastroesophageal reflux. You name it, he’s had it. He was born with several little holes in his heart and something called a hemivertebrae, which means that he’s got some vertebrae in his back that are only partially formed. He was also born with talipes (club foot).”

Angus can communicates by moving his fingers some, but he can’t speak. He tells his mother where he wants to walk to simply by pointing. “He’s not completely without motor skills but he can’t talk so he’s devised his own version of sign language. ‘It’s a few basic hand signals that he does. Everybody who works with him or knows him knows what they are. If he’s happy, he sticks out his thumb and index finger and jiggles them simultaneously,” she said of his communication skills.

Angus’s family knows that they’re going to have to care for him for the rest of their lives, but it seems like a task that they’re happy to take on. She explained, “He’s never going to be able to live an independent life so he’s always going to be dependent on me but we just sort of work it out and get it along.”