Our beautiful little Saffie has been diagnosed with Leber Congenital Amaurosis (LCA). LCA is a serious and lifelong inherited retinal disease (IRD), which currently has no cure.

This disease means that Saffie has poor peripheral and long-distance vision and night blindness. It also means that over time, she will lose her sight. LCA accounts for 5% of all retinal dystrophies and 20% of blindness in school age children.

We are very fortunate that due to years of fundraising and clinical trials, a revolutionary gene therapy exists for Saffie’s type of LCA - Luxturna. Saffie is eligible and had her first surgery, on her left eye, in early April at Great Ormond Street Hospital.

https://www.gosh.nhs.uk/our-research/our-research-infrastructure/nihr-great-ormond-street-hospital-brc/brc-news/first-children-have-gene-therapy-treatment-blindness-gosh/

We have been overwhelmed and bowled over by the results so far. For the first time ever, Saffie saw her mummy and daddy’s faces in the dark at bedtime. It was magical. Saffie’s peripheral vision has improved, she is more confident running and being active and she’s just generally happier. The results will hopefully continue to improve, and her right eye will receive the same treatment later in the year.

We don’t know how long the results will last for or what Saffie’s long-term future will be, but we are incredibly grateful that this hugely expensive and life changing procedure exists. We have been told that without it, she would be fully blind by the age of thirty…..a prognosis that no parent should ever have to face for their child.

We lived through a tiny perspective of what this feels like when we were waiting for a confirmed diagnosis and wondering how we would cope as a family and how we could ever comprehend her losing her sight. I can tell you that it’s the most terrifying and loneliest feeling of all. Even now, there are so many unknowns, but we have one thing that many parents of children with IRD’s don’t - we have hope and an approved treatment.

We feel so incredibly passionate about the work of Retina UK. Not only are they the UK’s only charity for inherited sight loss, but they have also been a huge support to us during this journey. Retina UK were at the forefront of the development of Luxturna and we want to support them as much as we can with clinical trials for other IRD’s.

Luxturna is currently the only gene therapy treatment that exists in the UK today. This means that unless your child has the very specific type of LCA that Saffie has – there is no treatment available. This makes for a very scary and lonely prospect.

This revolutionary surgery has quite literally given our daughter her sight back and its hard to find the words to explain what this means for us. Our dream is that one day there will be prevention, treatment or even a cure for all IRD’s.

With this in mind, us Sanford’s are taking a stand! We are trekking across the Sahara Desert across three days in November to raise awareness and fundraise for Retina UK. As someone who doesn’t particularly like sand or walking, this will be no easy feat!

Please if you can; support us to raise more money for all patients and for Saffie so that further treatments and possibly even one day a cure can be found for these dreadful diseases which affects thousands of people in the UK every day.

The Sanford's (Lisa, Tam, Shen, Abie, Yen & Isla) xxx