Spring 2018 RARE Babies
Rare diseases in babies
Page 27
Newborn Bloodspot Screening
David Elliman, Clinical Lead for the National NIPE and NBS Screening Programme, Public Health England, Great Ormond Street Hospital provides a brief history of newborn screening in the United Kingdom and a hint of what might be to come.
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#RARERevolution #Newborn #screening #RAREBabies
Page 31
A tale of two… missed opportunities and the lasting legacy of early intervention
As RARE families across the globe still fight daily to secure a diagnosis and access services and support, we hear just what early diagnosis and intervention means on the ground and what impact this can bring to the lives of patients and their families.
Do we want to see a future when all diseases can be identified in utero or at birth?
Page 40
Chloe’s Fight – Fighting for Chole and others like her
For Erica Barnes and her husband their battle to fight for Chole was lost, but powered by love for their daughter and her legacy they found a new way to parent. They are now taking her fight to the boardroom to try and drive forward new technologies, with the hope of more effective treatment options and eventual cures for paediatric diseases.
Page 32
Alyssa’s Story
Sometimes an early diagnosis does not have the power to change the clinical outcome. Some stories are destined to be short ones.
Alyssa’s story, as told by her courageous mother Nadia demonstrates what it would have meant to their family to have more precious time with their beloved daughter and less time challenging doctors and fighting for answers, and how prenatal screening could be the key to end Tay Sachs.
