Growing Our Family: Not the Journey We Planned, But the One We Needed

Orla was born two days after her due date — a beautiful, bouncing baby girl. She passed her new-born checks in hospital with flying colours, and we took her home believing everything was exactly as it should be.

At her eight-week check, however, our GP noticed that her red reflex looked unusual. We had already mentioned that her eyes seemed to turn, but we’d been reassured that this was completely normal up until around three months old. When we were referred to ophthalmology, we were told the red reflex was present, but very pale, and that the back of her eyes (the fundus, I think) also looked very pale.

A few weeks later, we noticed nystagmus.

What followed was months of appointments, referrals, and waiting. Eventually, we were told Orla had albinism. We were surprised. She didn’t fit the image we had in our heads at all — blue eyes, ginger hair, freckles. But we were told there were many variations of the condition, and she did seem to fit most of the other descriptors.

The one thing she didn’t have was light sensitivity. In fact, the day we brought her home from hospital, we all commented on how obsessed she seemed to be with lights. She loved them. Which, at the time, felt reassuring.

A few months later, the genetic testing we expected to confirm the diagnosis came back — and instead ruled albinism out completely. So it was back to square one.

By this point, the signs that Orla’s vision was significantly impaired were becoming much clearer. She didn’t recognise me if I walked into a room. She couldn’t see me at the nursery window. Loud noises terrified her if she didn’t know where they were coming from. She brought everything she looked at very close to her face so she could inspect it properly.

At one point, her hands became a source of endless fascination. She would sit and study them for hours, turning them over, watching them move — completely absorbed.

Back at the hospital, Orla had an MRI scan to rule out any brain abnormalities. She was described as having “subtle lissencephaly”, which we were told not to worry too much about.

While she was under anaesthetic, the ophthalmologist was finally able to examine her eyes properly and take photographs — something that had been impossible up until then, as Orla would not let anyone in a white coat anywhere near her. Bloods were also taken for another round of genetic testing.

We were told her eyes were measuring large — 22mm — when the average for her age was around 18mm. She needed glasses, with a prescription of -18. VEP testing ruled out any crossovers in her visual pathways. Each test ruled something out, but none of them gave us the answer we were desperate for: what is actually causing this?

By this time, Orla was 18 months old, and we were emotionally exhausted. We also wanted to grow our family. Knowing that some families wait years for a diagnosis, we made the decision to stop putting our lives on hold and start trying for another baby.

Our son, Patrick, was born the following March. Orla was two years and three months old and instantly the best big sister. From day one, their bond was unbreakable — and it still is.

When Patrick was five weeks old, I was in the kitchen preparing tea when my phone rang at 6.30pm. It was a “No Caller ID” number. I answered.

I was told that Orla’s genetic results had finally come back. I was also told not to Google the condition.

The condition was called Knobloch Syndrome. I was told I would receive a letter with details of the next available appointment — in a couple of months’ time.

As anyone who has been through something similar will understand, my world stopped. I think it was the word syndrome. Of course, I Googled anyway.

What I found was devastating. Cold, clinical language. Predictions that she would lose her vision by the age of ten. Developmental delays. Seizures. Very little hope.

I then had to somehow tell my husband when he came home — knowing it would break his heart too. It was only after I rang to complain that we were given an appointment, still a month after this life-changing phone call.

At the same time, we were terrified about Patrick. Would he be affected too? Five weeks old was far too young to know. That meant another year of watching, waiting, and worrying.

Patrick is now almost three, and we are incredibly grateful that he is not affected.

And Orla? Orla continues to thrive.

She started Reception this year and is doing brilliantly. She has a one-to-one teaching assistant who absolutely adores her. She has regular support from a QTVI, wonderful friends, and the freedom to choose the activities she wants to take part in.

Outside of school, we encourage Orla to experience everything. She takes part in parkrun, has one-to-one ski lessons with DSUK, swims, does gymnastics, plays the piano (funded through the Amber Trust), and can even ride a bike.

Orla has developed what we call her super senses. She can smell chocolate from the back seat of the car. She recognises places purely by smell — the beach, the woods, even Great Grandma’s house. Her memory is extraordinary.

She uses these skills to compensate for the fact that she can’t distinguish faces. As a result, people are often shocked to learn that her vision is 3/60 in both eyes.

When Orla was first diagnosed, it felt like our world had ended. In those early days, I read blogs like this constantly.

So if I could leave you with one message, it would be this:

Your child’s life may look different to how you imagined it. But different does not mean worse. Your child will still achieve wonderful, amazing things — and if anything, they will make you prouder than you ever thought possible.

Vicky xx