My 'healthy' baby's newborn test was read wrong before shock phonecall
A MUM has told how her baby daughter’s newborn screening test was read wrong and her little girl had a devastating disease.
TL;DR
- Poppy was diagnosed with Ataxia-Telangiectasia (A-T), a rare genetic disorder, after her newborn screening test was misread.
- A-T is an incurable condition affecting balance, the immune system, and increasing cancer risk, with symptoms like difficulties in movement, coordination, and speech.
- The diagnosis came as a shock as Poppy had no apparent symptoms prior to the discovery.
- The condition will progressively rob Poppy of her mobility and independence, potentially affecting her lifespan.
- There is currently no cure for A-T, and it increases the risk of serious infections and certain cancers like leukemia and lymphoma.
- Poppy receives weekly antibody infusions due to her body's inability to produce enough on its own.
- Her mother, Samantha Clark, advocates for increased awareness of A-T to encourage research and funding for a potential cure.