Abbie’s Diagnosis – Retinitis Pigmentosa Awareness Month

Photo of 6yr old Abbie smiling, her brunette hair in long piggy tails with large pink bows and wearing her statement pink glasses

In light of February being Retinitis Pigmentosa Awareness Month, I thought I’d finally write about my daughters Abbie’s diagnosis. See I’ve been avoiding this post since I first started blogging. How and when we found out, what the condition means, her future growing up with progressive sight loss and amongst all of the above, my feelings on knowing if a treatment doesn’t manifest while Abbie is still relatively young and has usable vision still, that my sweet girl will slowly…. go blind.

The day we were told Abbie had RP is still very vivid in my mind. If you follow our journey, you may recall that I was presumably unable to conceive a child due to my genetic muscle-wasting condition. So Abbie was a surprise pregnancy, the best surprise of my life but also the scariest because there were so many unknowns. Sadly my pregnancy was tainted by unfathomable worry over the possibility of Abbie inheriting not only my Muscular Dystrophy but also my partner’s genetic eye condition – Retinitis Pigmentosa.

We sensibly saw Geneticists throughout the pregnancy to see if there was any way to test for either condition in the womb, to better prepare ourselves (if anything). Though my condition is just too rare for prenatal testing, it was possible to test for the RP. However, we ended up deciding against an amniocentesis because of the higher risk of miscarriage. It wasn’t worth risking our little one’s life for, only to prepare ourselves – when the outcome wouldn’t change. I’m strongly pro-life, and despite I was offered abortion on 2 occasions there was no way that was going to happen. My partner Mark and I are both disabled (be it in very different ways but still…), of course, we would love her no matter what, as well as guide and support her to strive for whatever she wanted to do in life.

8 month old Abbie sitting on my knee on the sofa. She looks cranky and is wearing a flower headband.

It wasn’t until Abbie was born that we took her to have bloodwork done to test for both conditions. The results didn’t come in until she was 8 months old, by this point the health visitor had noticed Abbigail had developed a squint and what they term as “dancing eyes.” We were also concerned that she didn’t eagerly explore her environment like other babies her age, she was perfectly content being sat in the one spot and playing with the things we put in front of her. My Mummy gut told me before the day we were called in to hear the results, that Abbie had inherited her daddy’s condition and to my heartbreak, it was confirmed.

What is Retinitis Pigmentosa?

RP is a chronic (meaning long-term and untreatable) hereditary eye disease characterised by black pigmentation and gradual degeneration in the retina that eventually leads to total blindness. Early symptoms are difficulty seeing at night/dimly lit settings aka “night blindness”, loss of peripheral vision, then progressing the developing tunnel vision and having difficulty adjusting to changes in light. Issues with depth perception, leading to tripping over things and general clumsiness. Progression rates vary from person to person, some lose sight rapidly, while others have some useable vision into their 50’s.

I didn’t take the news very well, in fact, I was completely, and utterly heartbroken. I hadn’t yet come to terms with the fact my partner (one day) would ultimately lose all his useable vision and now my daughter faced the same fate. It was terrifying, blindness was such a frightening word to me not being from the visually impaired community. It was such a strange contrast that I was more terrified of what RP meant for both my partner and baby girl than I was knowing that my own condition meant I’d likely not see her grow into adulthood. As you can imagine, the news was just too much and I fell into a pit of depression and unfathomable guilt for several months. My partner couldn’t get his head around why I’d taken the news so badly, as he put it…it wasn’t like she was dying! I recall responding in disbelief, “I know but she is….she will….if they don’t find a…” I couldn’t even say it out loud. It was as if I’d make her blind in an instant if the word escaped my lips! There lied the problem, as I hadn’t grown up with friends who were VI or knew anybody really from that world until Mark – I, like the rest of society, viewed being blind as this tremendous tragedy. I was ashamed that I’d even fallen into this trap of thought process on blindness, as a disabled person myself. I should have known better, all I can put it down to is it’s a different kettle of fish when it’s your own child.

Following Abbie’s official diagnosis at St Mary’s Hospital Manchester at 8 months old, she was referred to a specialist Paediatric Ophthalmologist and is seen every 3 months to monitor her vision. RP is actually quite rare in children and almost unheard of in babies. Many are diagnosed in adulthood and if it is child-onset, it’s usually around 7-12 years, so Abbie became of quite an interest to the Dr’s and nurses. On a positive note, I am glad that we did seek out to have her tested as an infant as it allowed us to give her the best chance by implementing things that’d make her life easier – both at home and academically in her early years that’d set her up for life.

Abbie was given her first pair of specialist glasses at 18 months, just before we started her in a nursery – to give her more opportunities to play and socialise with other toddlers her age. Her lenses had to be thick as there were several visual changes that go hand-in-hand with the RP that the specialist was trying to manage, to make the vision she had somewhat clearer. As she was so young, the hospital had to specially order her prescription lenses and frames from a particular company down south, which took up to 12 weeks to be delivered. They were specialist flexi frames with no nose pads as Abbie lacked the bridge to support them, her glasses were quite heavy and despite they were meant for visually impaired babies they constantly slipped down her nose. I ended up doing some research online and found some toddler-friendly glasses straps that would keep her glasses in place throughout the day with an elastic bit around the back of her head. She wore them like this until she was 4.

2 year old Abbigail with her brown hair clipped away from her face, statement red flexi glasses dangling on the bottom of her nose. She is playing with a toy stethoscope

The specialist could never really answer my questions because there is no solid answer. I often asked how long they thought she’d have before she lost all sight – so we could pack in as many visual activities as possible to build up her visual memory bank. Having a visual memory bank (I read) was extremely beneficial to those living with progressive sight loss as it aids their interpretation of the world around them. The more things they see before they lose their sight, the easier it is thereafter to navigate the world with none at all. I zoned in on this like any Mother would as a way of making life easier for her as I was powerless to do anything else.

Around the age of 3, the hospital got in touch with the local Sensory Team and they started doing assessments in the nursery setting to see what she may need help with when she transitions to primary school. It was also important in helping us make the decision on what kind of school was appropriate and most beneficial for Abbie. Yes, I’m talking about a special school vs mainstream. Abbie has always been a confident and independent character and this was evident in her assessments, Heather (Abbie’s amazing VI teacher that does the assessments) reassured us that she felt a mainstream primary would be fine for her and that she’d make sure special accommodations were made in the classroom. It was evident she’d need to liaise with Abbie’s teachers on making the classroom a trip-free zone, have a clear indication of activity zones, Abbie would need extra supervision in the playground and all work material in large print. Sitting in the front, centre of the classroom in line with the whiteboard as her depth perception was greatly affected. As much as I believe special schools are amazing, I was relieved to be sending her to mainstream as I’d heard from blind adults in various RP support groups (who’d attended special schools), that as they aged out they felt vastly unprepared for the real world and some had increased anxiety going from an environment where their world is fit around them and their needs, to a world not built for those with vision loss.

Just before Abbie was set to start primary school, I noticed she was increasingly frightened of the dark. Not unusual for a child of 4, but when you know “night blindness” is a symptom of your child’s condition it’s very different. We went through several night lights to help her with her fear of the dark, many were too dim and other than leaving her bedroom light on itself – it was difficult to source a light that’d enable her to sleep yet be bright enough to ease her anxiety. In the end, we tried a disco ball and over a year burned out 5 of them. Yes, those with low vision have disability-related expenditures too! She was also struggling immensely with toilet training, needing constant supervision and support visually doing all the steps. This only amplified my anxiety over whether mainstream was the right choice. Then came a devastating blow only a week before she was due to start reception.

We had an appointment for her usual vision tests and I left that appointment using all my might not to break down in front of her. We were given Abbie’s CVI (Certificate of Visual Impairment) to have on hand as they said we should start applying for Disability Living Allowance aka DLA as her visual markers had decreased. Our sweet, fun, confident, happy girl was then labelled “Severely Sight Impaired.” During that appointment, a play therapist took Abbie into another room and for the 2nd time, my heart broke into a million pieces. We were told in no uncertain terms, due to the progression noted that day and the fact she’s had symptoms from birth, they estimated our beautiful little girl could most likely be totally blind by 7-8 years old…

It took me a little while to get myself together after hearing such news, but it was that news that gave me the kick up the bum I needed to change the way I viewed blindness and people living with it. I was going to be of no use to Abbie if she saw me sad, anxious over appointments or if I started wrapping her up in cotton wool. I needed to be strong, knowledgeable and set a good example to her. That began with my attitude!

How did I change my perception of blindness?

By talking to adults living and thriving with Retinitis Pigmentosa! I started following Molly Burke on YouTube who is a motivational speaker, YouTuber, creator and all around fantastic role model for people with progressive sight loss. Watching her videos has taught me SO much. As well as honest and frank discussions with Elin Williams who blogs over at ‘My Blurred World.’ With all their guidance, advise and support my mindset is now positive, I’m confident in raising Abbie and I know who to go to if ever Abbie’s not getting the equal opportunities in education for example as her peers.

True acceptance, though, is standing with your child, as they are, as they face the normative society. It requires raging against ableism

Abbigail is 6 years old (at the time of writing this) and thriving in school, social life and extra-curricular activities. Like many children who’ve never had 20/20 vision, she gets around independently, with confidence. Familiarising herself with new environments quickly in her own way and is excelling in reading!

I couldn’t be prouder of all she’s achieved so far and I no longer have that dark cloud or uneducated ableist attitude towards blindness. Abbie is not a victim, a child to be pitied and nor should she be treated any differently because she’s VI. Abbie is Abbie – a vibrant, independent young girl who loves all things unicorns, kinder egg surprises, LOL dolls and playing make-believe – like any other 6 year old. She wants to be a Dr when she grows up and I’ll advocate for her until she’s ready to take on the world herself, for as long as the Equality Act is beside her – sight loss will not stop our Abbie from doing or being anything she strives to be.


Related Links

Molly Burke – Living with RP
Abbie’s NICU Journey |The Baby That Made Medical Books

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Shank You Very Much

9 thoughts on “Abbie’s Diagnosis – Retinitis Pigmentosa Awareness Month

  1. I have never heard of this condition, Thanks for sharing, so good to read that your daughter is coping so well #dreamteam@_karendennis

  2. Another beautifully penned and strong post, Fi. Your posts always leave me feeling hopeful. Glad to hear Abbie is doing so well, and hats off to you for leading her in the right direction with the right attitude. Thank you for sharing this emotional piece with us at #itsok

  3. I’m so sorry that you’re having to deal with this. Its evident from reading that you are doing all you can for her and I’m left with an overwhelmingly positive feeling that with you both behind her, Abbie will go far. Well done and all the best for whatever the future may hold. Thanks for sharing her story and diagnosis #twinklytuesday

  4. This was a real emotional read. I have a six year old who wears glasses but I can’t imagine the stress and upset this diagnosis would cause. I had never heard of this condition before. Thanks for sharing and joining us – #TriumphantTales

  5. Such a moving account of your daughter’s diagnosis. She sound like she is doing amazingly. Thanks so much for sharing such a personal and honest account with the #DreamTeam

  6. The worry must have been terrible and although the diagnosis is bad news at least you have answers and can prepare as a family. I hope you manage to raise awareness of the condition in order to help fundraising efforts. Thanks for linking up with #globalblogging

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