Abbie’s Diagnosis – Retinitis Pigmentosa Awareness Month

An emotional account on my eldest daughters life-changing diagnosis. What the future may hold and discovering how societies misconceptions of blindness influenced my heartbreak. This is Abbie’s journey, through her Mummy’s eyes. #RetinitisPigmentosaAwarenessMonth Continue reading Abbie’s Diagnosis – Retinitis Pigmentosa Awareness Month

100,000 Genome Project | Answers for Ava

(Title Image: Photo of Ava and I reading a book, coming off a strand of DNA) Yesterday Ava had her annual physical exam at St Mary’s, Manchester Genetics department. Our old geneticist Dr Kingston had recently retired sadly, but we were transferred to the capable hands of her replacement Dr Browynn. Although we came out no further knowing Ava’s future, we came away with something we didn’t have before… HOPE. The Back Story (IMAGE: Diagram showing the autosomal dominant inheritance pattern if one parent is affected. Showing 25% probability child will be affected) If you’re new to our journey, we … Continue reading 100,000 Genome Project | Answers for Ava

Ava’s NICU Journey | A Surprise Delivery! | NICU Awareness Month

Ava Harriet was born on 24th September 2015, weighing a tiny 4lb 10oz. Just like her big sister Abbigail, Ava was born by elective c-section via general anesthesia, planned months in advance in a very controlled setting due to complications surrounding my muscle wasting disease. To understand more about this please visit my Pregnancy & Childbirth post for more details. Although I got given a different team of specialists with it being 3 years on from my first pregnancy, everything as far as the birth plan was exactly the same as it was with my first. If it’s not broken … Continue reading Ava’s NICU Journey | A Surprise Delivery! | NICU Awareness Month