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    Home » Lifestyle » Toddler’s staring and chest infections led to incredibly-rare Angelman diagnosis
    Lifestyle

    Toddler’s staring and chest infections led to incredibly-rare Angelman diagnosis

    James MartinBy James MartinFebruary 15, 2023No Comments3 Mins Read
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    The family of a toddler diagnosed with one of the rarest medical conditions in the world have told of how his seemingly benign symptoms led to the obscure diagnosis.

    Adam Ward and his wife, Rebecca, welcomed Max into the world back in March 2021. Their second child, the family were made up by the arrival of the young boy into their family. However, after a few weeks, Max began being hit by chest infections.

    He also had a tendency to stare into space and not look his loving parents in the eyes. Due to their concern, Adam and Rebecca were ‘constantly’ going to Royal Oldham Hospital.

    After rounds of testing and multiple diagnoses, the couple were told Max had one of the rarest medical conditions in the world. Now, just short of his second birthday, Max will see Manchester Cathedral lit up blue – to raise awareness of Angelman Syndrome.

    The condition affects roughly 1 in every 20,000 births, reports the Manchester Evening News, which is 20 times rarer than Down’s Syndrome – another genetic condition. Unlike Down’s Syndrome, which can be screened for during pregnancy, symptoms of Angelman don’t appear until the baby is at least six months old.

    For Max, the first sign of trouble were chest infections and not looking anyone in the eye, dad Adam explained: “He had chest infections, that was the main thing. He would go in with an infection and four weeks later we would be back.

    “We did realise a few weeks later he would not look at you and stare into space. It was only because he was constantly being admitted at Oldham that they sent off for the genetic tests. Then we had the tests and he got the diagnosis.”

    Max was first diagnosed with absence epilepsy, where he would ‘blank out’ for a few seconds before coming back round. After genetic tests came back, the data confirmed that his maternal chromosome-15 had been ‘deleted’, Adam added, confirming his Angelman diagnosis.

    “The main symptom is delayed development,” Adam went on. “My little boy is nearly two but he cannot sit up yet. There’s delays in his motor skills, and in walking and crawling.

    “That’s what we are dealing with at the minute. He can communicate but not in any spoken words. He might say a few words, but he is non-verbal. He will learn to communicate with an iPad.”

    And Max ‘has struggled with not being able to control food going down his windpipe’, which was the cause of his chest infections — as food and milk were going to his tiny lungs, Adam explained. “Your body cannot know about that yet.”

    Today, the tot is ‘happy’, and the family is adapting. Adam, who owns tech firm Airtime Rewards, continued: “Adapting things is how we do it. We have equipment at home to help him stand. We do a lot of physio at home, and he needs to have the right shoes on to support him.

    “It does take over your world a little bit, but it’s what you do for your kids. He has speech and language therapy.”

    And, thanks to a favour from Canon Nigel Ashworth, Manchester Cathedral will be lit up blue today (February 15) as a way to raise awareness of World Angelman Day. Civic buildings in Leeds and Warrington are also taking part.

    You can read more about Max’s story, and donate to his foundation, online.





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