"She's got epilepsy, she has scoliosis, she has apnoea, she has respiratory problems, she has digestive problems. She’s waiting for a gastrostomy. She might need spinal surgery. There are over 50 symptoms of Rett Syndrome, all of them are awful, and some of them are life-threatening, and she has a lot of them."
Beth Johnsson joins us to talk about Rett Syndrome. This rare genetic disorder affects brain development, resulting in severe mental and physical disability.
It's estimated to affect around 1 in 10,000 girls born yearly and is rarely seen in boys.
Beth talks about her personal experience with her daughter, Hannah, who was diagnosed with the condition when she was very young. Hannah now has a complex list of disabilities, including epilepsy, scoliosis, apnoea, respiratory problems, and digestive problems. She's waiting for a gastrostomy. She might need spinal surgery. There are over 50 symptoms of Rett Syndrome, some of which are life-threatening.
Despite Hannah's developmental regression, she brings joy to their busy household with her side-eye glances at her parents and giggling at her younger brothers' antics.
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Hosted by Chantal Boyle and Paul Shriever, Hidden Disabilities Sunflower.
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Music by "The Emerald Ruby" Emerald Ruby Bandcamp and Emerald Ruby website
