Finding Our Way: VI, Autism and Everything In Between

As Holly approaches her 6th birthday this week, I find myself looking back in disbelief at just how much she has already had to overcome.

Born at the height of Covid, whisked straight into intensive care with sepsis, and then diagnosed with nystagmus before being registered severely sight impaired by her first birthday, it was more than enough to challenge any new family, but Holly’s journey didn’t stop there. She has faced a string of health hurdles, from a heart murmur to being diagnosed with severe obstructive sleep apnoea and hearing loss at age three. Around the same time, we received her genetic results confirming she had Hermansky–Pudlak Syndrome type 5, an extremely rare condition that causes albinism, nystagmus, a platelet function disorder, and carries increased risks of colitis and pulmonary fibrosis later in life. We hold onto the hope that, because type 5 is considered one of the milder variations, she may be spared the most serious complications, but with a condition this rare, so much is still being discovered.

I can sometimes feel quite sad when I look back on Holly’s early years. We had so many beautiful, happy moments, yet the memories that rise to the surface most easily are the ones filled with feelings of exhaustion, anxiety, stress and being completely overwhelmed. It often feels as though those emotions overshadowed everything else, and that time slipped through my fingers so quickly I didn’t get the chance to fully appreciate how lucky I was, or how joyous it was simply being her mum. The constant hospital visits, the diagnoses, the fear of what her future might hold, they stole so much of that precious time from me.

One thing that has always remained a constant is Holly’s humour and her wonderful uniqueness. Even as a tiny baby she just felt different, she applied her own logic to the world, and it was obvious she saw things through a lens entirely her own. I know most parents notice quirks in their children, but even though Holly is our only child, we just knew she was different. When she was little, she would flap her hands by her sides, pinching her fingertips together in bursts of pure excitement. She understood surprisingly advanced adult humour and would laugh so hard she’d lose her breath and end up with a fit of hiccups. Her play is wonderfully distinctive too, she loves lining up her toys and creating order in her games, red fruits absolutely could not sit next to green fruits, and that was that. She was delayed in her speech and language and worked closely with SALT, but when her speech finally came, it arrived in full force. Her vocabulary quickly became incredibly advanced, and even now it often feels like I’m talking to a wise older woman rather than a six-year-old. Just this morning, Joe (My husband) mentioned something about Christmas and she replied, “Daddy, why are you talking about Christmas in March? Let’s not get carried away, shall we.”

However, when Holly started school, everything seemed to change. Almost overnight we were receiving constant calls telling us how dysregulated she had become and that she was screaming, hurting, running away from teachers and peers. The child they were describing simply wasn’t the Holly we knew. She had always been social, always able to play with her cousins and other children, and suddenly we were being told she didn’t want to play with anyone and was struggling to make friends. None of it made sense.

The possibility of autism had been mentioned to me before, but it was incredibly difficult to separate what might be stereotypical autistic traits from what could be developmentally normal for a child with a severe visual impairment. Still, we were already due to attend the neurodevelopmental clinic at Great Ormond Street after a referral from her ophthalmologist. We’d had an initial appointment before she started school, and this was meant to be a follow‑up to see how she was getting on. The clinicians had already spoken to her teachers, QTVI and support staff, and asked whether we wanted them to carry out an assessment while we were there. We agreed.

After just a few hours, they confirmed that yes, they believed Holly met the criteria for Autism Spectrum Disorder. Everything after that became a bit of a blur. Like every other diagnosis Holly has received, we were sent home to process it together and to research what it meant for her. But this time felt different. Every other diagnosis had come with follow up appointments, consultants, specialists, even at the very least a leaflet. This time, there was nothing.

I read that a sensory‑based OT assessment is crucial for children with Holly’s profile, so I asked her paediatrician for a referral, only to be met with a receptionist telling me the NHS doesn’t fund sensory assessments and that I needed to explain which of Holly’s functional difficulties were due to her visual impairment and which were due to ASD. I then reached out to her EHCP caseworker to request the assessment through her plan, only to be told again that it wasn’t something they would fund. Luckily, I do have the support of a great SENCO at Holly’s school who is helping me fight the decision.

It has all felt like such a battle. I’m not pretending that getting support for Holly’s other conditions has ever been straightforward, because it has been far from it. But there is a noticeable difference in how professionals respond. When you say you have a severely visually impaired child, people tend to treat you with sympathy and understanding. When you say you have a child with ASD, you can almost hear the eyes rolling down the phone as if you’re just another parent “claiming autism.” Rightly or wrongly, it has changed how I ask for support. I now always lead with Holly’s VI and complex health needs first, and only then gently mention the ASD, hoping I can at least finish my sentence before hearing, “Let me stop you there, madam, we can’t support with…”

I won’t pretend this is the case with all professionals, because it isn’t. Along the way we have met some truly brilliant people. We are incredibly fortunate that Holly goes to such a great mainstream school, one that has implemented so much for her, including “Laid Back Lunches,” where she can eat in a quieter, calmer space away from the overwhelming noise of the main hall. They also provide sensory spaces such as “The Hive” and “Butterfly Garden,” offering meditation, singing, art and other regulatory activities. These may sound worlds away from what we experienced at school, but they are far from gimmicks as they are the difference between Holly being able to cope in school or not. Although Holly does still have her challenges coping in school having this support has made a huge difference.

Whilst we are still early on in our autism journey, navigating ASD alongside a severe VI, if there is one thing I have learned, it is not to give up and to trust your instincts. I know it’s a cliché, and it’s what most mothers will tell you, but honestly, I have spent years having my confidence knocked by a system that told me I was just a new mum being paranoid. I was told sleep deprivation was normal, that nothing was wrong with her vision, that the things Holly struggled with were down to parenting. I questioned myself constantly whether I was a good mum, whether I was imagining things, whether her strengths were real or whether I was just hoping too hard.

To the point now that if someone tells me something positive about Holly, I often fixate on it and burst into tears, not from sadness, but from joy. Because it’s not something I hear often, and it gives me hope. Holly can’t yet read and write at the same level as her peers and her emotional regulation is still emerging, yet she is exceptionally bright with a photographic memory and gifted in so many areas. I know she is going to be just fine. We might not always do her homework or read every night as expected, but I’m learning not to fixate on that. She is bright, she is capable, and she will go far and sometimes, having time to relax and connect in the evenings is far more important than phonics homework.

Joe and I draw a huge amount of strength from each other, and we’re fortunate to have supportive family and friends around us, but even with all of that, some days are still incredibly challenging!

Wherever you are on your journey with your little ones, know that you are not alone, even though it often feels like you are.  Since reading these blogs with VICTA and reaching out to other parents, I’ve realised there is support out there, even if it’s just hearing that your child is going to be okay. Because honestly, they are going to be fine. If you’re a parent who is already reading blogs like this, staying up all night researching your child’s condition and looking for reassurance, that alone shows how much you care and how lucky your child is to have you. Don’t let anyone or anything make you doubt that.

Thank you so much for taking the time to read.

Karen X