Alagille Syndrome & Blindness
Alagille Syndrome is a rare genetic disorder that affects multiple organ systems, including the liver, heart, bones, eyes and more. For me, it also brought an unexpected challenge: blindness.
Understanding Alagille Syndrome
Alagille Syndrome is characterised by a reduced number of bile ducts in the liver, leading to cholestasis, many are aware of the liver and heart conditions associated with Alagille Syndrome, the impact on vision, especially mine, is often less discussed. In my case, I was diagnosed with Cone Rod Dystrophy, a condition that gradually impairs vision, which I only know in recent years.
My Alagille Syndrome Led to Blindness
While many are aware of the liver and heart conditions associated with Alagille Syndrome, the impact on vision, especially mine, is often less discussed. In my case, I was diagnosed with Cone Rod Dystrophy, a condition that gradually impairs vision, which I only know in recent years.
Alagille Syndrome & Cone Rod Dystrophy
I wrote a bit about my vision and eye condition in my book, Alagille Girl, but I want to share more (the bits that I didn’t share) on this platform.
Even as I was born with Alagille Syndrome (hence the name Alagille Girl), which affects my liver, heart, bones, vision, hearing and more, I nevcer for once had this feeling of unfairness. I never for once thought any of my chronic conditions was unfair. Not until I found out that my right eye is legally blind and my left eye will probably progress too (in 2021).
As mentioned, one of the parts of my body Alagille Syndrome affects are my eyes. I have an eye condition called Cone Rod Dystrophy. Since I was very young, I’ve had to see the eye specialtst (ophthalmologist) for COUNTLESS of appointments, check-ups and eye tests. During these trips to the hospital, surprisingly (and unfortunately) no doctor or medical staff at the ophthalmology department mentioned the ‘b’ word to me. So, I grew up without a warning or any mental preparation for what was about to come next.
Blindness
December 2021, it was the end of the year. Christmas was coming. My right hip was no longer grinding and I was happy about it, because I had it replaced months earlier. And I remember reading a self-help book. I think it was about growth mindset. Around this time my ophthalmology appointment arrived. This appointment was just a normal check-up/follow up appointment. The only difference is I was going to this follow-up appointment with a mission. To find out if I’m blind.
Remember how I said the ‘b’ word was never mentioned to me? And I grew up without a warning or any mental preparation that I would be blind one day? The way I found out about the condition of my vision is when I was in my mid 20s. I started seeing changes in my sight. I couldn’t see certain things as well as before. Books. Handwritings. Pictures. Steps. Menus and more.
One day during an ear appointment at an adult hospital, my mum just casually mentioned that my vision has changed (My mum brought it up instead of me because a part of me was worried to find out what’s happening to my eyes). Then, the ear specialist referred me to the eye specialist (they are both at the same adult hospital). When my first eye appointment arrived, the professor asked a nmber of questions, passed me a piece of paper and that was it. Still no mentioned of the ‘b’ word. Instead, for the first time in my life, I found out that there was an Australian organisation specially open to people who are blind or/and have low vision. The paper the professor had passed to me was a referral to see someone and get help from that Australian organisation. Every ad, every bag, brochure, catalogue, card I bumped into had the ‘b’ word on it. This was basically the way I was introduced to ‘blindness’. I didn’t know I was blind yet, because I wasn’t verbally told I was blind by any ophthalmologist, but the brochures were screaming out “Blind!”, “Blind!”, “Blind!” at my face. AFnd this brings us back to the day of my eye appointment in December 2021.
Finding Out I’m Blind
I wanted to know, for sure, whether or not I’m blind? I wanted to hear it, verbally, audibly, from an ophthalmologist – am I blind or not? Yes or no? I wanted a direct answer. I had a mission. But, I was also worried, and a lil’ scared, and nervous. So, during the appointmment I asked the question in an indirect way.
“I read on google and it says people with my condition will be blind at 40?” I said nervously inwardly, because outwardly she was holding it together bravely.
“…you’re already blnd… your right eye is legally blind… your left eye will probably progress as well,” the ophthalmologist responded.
After that appointment, one of the first thought I had was what is the point of improving myself when there’s no future for me? What is the point of improving myself when my future is going to be blank? I did not continue reading the self-help book about growth mindset. If the book was a physical copy I think I might have burned it!
***Pls note the following feelings and emotions are not in order of time/day.***
I felt like black was my brightest color. It was as if I was grieving as I felt like something significant had just left me. A huge piece of me was gone, lost, dead (And it was true, there are many things that I used to do, I can’t do now). I was FRUSTRATED and angry, not at myself or God, but at new situation, circumstances, diagnosis or whatever you want to call this. I was so mad! Why did I have to be blind? Isn’t having Alagille Syndrome enough? And for the first time ever I screamed out the words THIS IS SO UNFAIR in my head. I’m not sure how many times or how many days I kept repeating “this is not fair”, but what I know is I was finally silenced one day.
Have you ever asked the question of “Was it fair for Jesus to die on the cross?”
Humanly speaking, it wasn’t fair for Jesus to die on the cross as He was sinless and innocent, yet He died a criminal’s death. He didn’t deserve it – we did. From a justice point of view, Jesus took a punishment that wasn’t His. And this is the very definition of unfairness.
Spiritually speaking (from God’s perspective), Jesus’ death was an act of grace, love and divine justice. It fulfilled God’s plan redeem humanity. It was sacrificial rather than fair – a deliberate loving exchange for our sake.
In the midst of the loudness in my head, I was quieten by a question. “You want to talk about unfair?? This is unfair. Jesus dying on the cross for you when you should have been the one dying on the cross for your sins. But because He loves you, He took your place and died on the cross for your sins.”
At that moment, in an instance, my spiritual eyes were opened. It was an eye-opening insight which I absolutely agreed! The fact is my situation was and is not unfair. Jesus taking my place, dying on the cross for MY crime is unfair. Since this eye-opening insight, not once have I felt my blindness is unfair.