Changing the lives of children with rare genetic diseases
Inside Health
BBC
4.4 • 575 Ratings
🗓️ 16 October 2024
⏱️ 29 minutes
🧾️ Download transcript
Summary
If you have a rare genetic disorder, new technology that allows your genetic code to be analysed means you could have a diagnosis within weeks. Before, people with rare diseases would often go their entire lives without a diagnosis. It's a revolutionary advancement but does it change how patients are treated or help improve their wellbeing?
Presenter James Gallagher meets Lisa whose daughter Jaydi was born with a rare genetic disease that affects her growth, speech, eyesight and a number of other conditions. We hear the story of Lisa and Jaydi's journey to diagnosis through Exeter University's Deciphering Developmental Disorders (DDD) study, and how it changed the course of Jaydi's life.
Her clinician, Consulatant Clinical Geneticist Dr Emma Kivuva, tells James how the diagnosis impacted on the care they offered and Dr Caroline Wright, Genetics & Genomics Theme Lead on the DDD study explains how they are measuring the effect of diagnosis on patient treatment and wellbeing.
This programme was produced in partnership with The Open University.
Presenter: James Gallagher Producer: Tom Bonnett Editor: Holly Squire
Transcript
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| 0:00.0 | Hello, you're about to listen to a BBC podcast, and I'm Ed Gamble, host of another BBC podcast, |
| 0:05.4 | The Traitors Uncloaked. But my show is available only on BBC Sounds, just like Ellis and John's |
| 0:10.6 | Saturday bonus episodes, the Pop Top Ten podcast with Scott Mills and Ryland, and comedy specials |
| 0:16.2 | from the likes of Harriet Kemsley, Susie Ruffel and Rommas Shranger Nathan. However, and maybe I'm biased, it's really all about the traitors uncloked. |
| 0:24.3 | So for a whole bunch of exclusive scoops and podcasts, listen only on BBC Sounds. |
| 0:30.6 | BBC Sounds, music, radio, podcasts. |
| 0:34.9 | Hello there and welcome to the Inside Health podcast. I'm James Gallagher. We're going to be taking a look at the UK's first place for people to take illegal drugs under medical supervision. It's about to open in Glasgow. |
| 0:48.0 | Scotland has the highest rates of drug-related deaths anywhere in Europe, so we're going to meet the doctor behind the plan |
| 0:55.4 | and ask if drug consumption rooms work. |
| 0:58.2 | But first, we're going to meet a family |
| 1:00.0 | whose lives have been changed by a pioneering study |
| 1:03.1 | into rare genetic diseases. |
| 1:05.5 | So want you to meet Lisa and her daughter, J.D. |
| 1:08.5 | Hello? |
| 1:09.3 | Hello? |
| 1:10.5 | Jadie's one of thousands of children in the UK, Lisa and her daughter, Jady. Hello? Hello? Hello! |
| 1:11.6 | Jadie's one of thousands of children in the UK, born with a rare genetic disorder. |
| 1:16.6 | So these are caused by mutations in our DNA, that's our genetic code, which damages crucial |
| 1:23.6 | instructions for how our bodies work. |
| 1:25.6 | The NHS has even started offering screening for 200 |
| 1:29.1 | of these disorders, but there are actually thought to be more than 7,000 of them. So what happens |
| 1:36.0 | in reality is parents or doctors might spot something that's wrong with a child's development, |
... |
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