Florence’s story

When Florence was 6-8 weeks old, her parents noticed she was unable to focus on and follow objects.

Florence’s parents took her to the doctors who referred her to a local private hospital where they met an ophthalmologist who was able to investigate Florence’s optic nerves using specialist equipment. 

Florence was diagnosed with severe bilateral optic nerve damage. 

This means that information couldn’t get from her eyes to her brain. She also barely had any light perception. 

A few days later, they met with Dr Gill Adams, a renowned ophthalmologist directly linked to Moorfields who informed Florence’s parents about a few possible scenarios.

The most favourable outcome for Florence would be experiencing an obstruction in the optic nerve pathway. If this was the case, surgical intervention could relieve the pressure and potentially restore her vision. 

However, a more serious possibility was that Florence had a severe and extremely rare congenital condition known as septo-optic dysplasia.

Florence’s blood results returned the same day showing she had deficient thyroid levels. After, they picked up Florence’s first prescription of levothyroxine.

A MRI scan was scheduled, and they attempted the wrap and feed technique to avoid giving 10-week-old baby Florence anesthesia. Unfortunately, it was unsuccessful after multiple stressful attempts.

The MRI unit was too noisy and petrifying for a 10-week-old baby. Another appointment was made where Florence had her MRI under anaesthetic.

Dr Gill Adams delivered the heartbreaking results and confirmed Florence had septo-optic dysplasia, and all three characteristics were present.

The severity of Florence’s MRI results forced her parents to confront the possibility that she might not be able to walk and that she may not be able to attend mainstream education.

Florence underwent visual evoked potential (VEP) testing, a procedure where probes are placed around the cranium to record the electrical signals transmitted from the eye to the brain. 

She also visited Great Ormond Street Hospital every two weeks, where she underwent blood profiling to assess her hormone levels to establish her correct medication and dosages as early as possible. 

Early intervention with these medications was crucial. Adhering to a strict regimen of dosages and intervals would not only save Florence’s life but also allow for proper growth and development in all other aspects.

Side effects of the condition meant Florence was not able to sleep. She was prescribed melatonin for the first 4 years of her life to aid natural sleep.

Unfortunately, this did not work, and her parents spent most nights awake with Florence. 

Even with tired eyes, her parents would use this time for Florence’s development. They would use the pitch black of night to play her musical light shows, which would cast dancing stars in all colours around her room.

Dinner times were also in the dark, in front of the TV with YouTube playing visual stimulation sequences.

With the support of Moorfields and the local VI team, Florence’s parents continuously stimulated her visual pathways day and night, hoping that new pathways would be formed.

Throughout the period of diagnosis and to this date, Florence has always attended every appointment and overnight stay with a huge smile on her face. 

As she has grown from a tiny baby to now, her parents have never treated Florence any differently. 

Florence’s parents live by the line ​‘don’t let your diagnosis define you’ and encourage her to do everything and be independent. 

Florence is an extremely happy and thriving seven-year-old. She attends mainstream school, reads literature and is on par academically with her peers.

She is outgoing, confident and has many hobbies, including attending a local theatre school and playing piano. Above all, she has an infectious love for life and everyone in it.

Florence’s medication is reviewed annually at Great Ormond Street Hospital. She undergoes blood profiling for 24 hours. 

Florence’s parents were told glasses would never help, however, Florence defied expectations. Her eyesight improved and she can now wear glasses. 

Glasses do not correct Florence’s vision. However, they enhance what she sees. 

Johanna’s advice to parents with a child diagnosed with septo-optic dysplasia is to believe in your gut instinct and remember nothing is as bad as it first seems; and early intervention is key!

Moorfields has put Florence’s parents in touch with other families facing similar life-changing challenges.

Florence’s parents credit the early intervention and the professionalism of Moorfields staff for having the chance to watch Florence grow into the little lady she is becoming.

Eye to Eye 2024 was Florence and her parent’s very first fundraising event. They exceeded their target and raised over £3200.

Before, they felt like working with charities was daunting, but they now feel ready, as they are out the other side of the initial diagnosis stages.

They wanted to give back as a family and raise awareness for Moorfields Eye Charity and other rare diseases.