Alagille Syndrome, Chiari Malformation & Syringomyelia: When One Becomes Many
I was born with Alagille Syndrome, a rare genetic condition that affects multiple systems in the body. It is often described as a liver disease, but that description only scratches the surface. Alagille Syndrome can affect the liver, heart, eyes, bones, and more. It is a whole-body condition, one that quietly shapes how I move through life.
The bile ducts in my liver were too few, which meant bile couldn’t drain properly. It built up, caused damage, and eventually led to liver failure and a liver transplant wasn’t a matter of if but when.
On 30 March, 2006, I received a liver transplant.
Thank God, it saved my life, but it didn’t erase everything.
When Pain Doesn’t Have a Name Yet
From December 2022 to 2024, something changed.
Pain began to appear, suddenly, unpredictably, and without warning. It wasn’t just discomfort. It was the kind of pain interrupts everything. The kind that makes ordinary life feel almost impossible.
Simple things like moving, eating, sneezing, coughing, walking, brushing my teeth, swallowing, became difficult.
And yet, at that time, there was no clear explanation. Just symptoms. Just experiences. Just a body trying to communicate something that didn’t yet have a name.
Interestingly, this year (2025), the severe, paralysing pain has shifted. It has become more mild to moderate. Manageable, but still present enough to remind me that something deeper is going on.
One thing I’m grateful for is this: since the start of this issue in December 2022, I have not experienced bowel issues, numbness, or inbalance, symptoms my neurology doctors specifically told me, in 2024 when I finally found out what was going on) to watch for. In a journey like this, even the absence of certain symptoms feels like a quiet mercy.
It was December 2022, and I was sitting in a booth at Pancake Parlour when I first felt pain at the back of my neck.
I still remember lying in bed one December day (2022), in such pain that I felt like I needed a neck brace just to hold my neck together.
On Christmas Day, I ended up in the emergency department, trying to figure out the cause of my pain (by this time my pain had spread to my shoulders, arms, and the back of my head), which the doctor concluded that I was having a severe case of muscle spasm and so he discharged me on the same day, advising me to take painkillers and continue massaging my back (for temporary relief). Fast forward to 2024, after a visit to my GP and a MRI scan of my brain and spine, I finally found out the cause of my pain.
Honestly, it was a miracle I was still able to travel overseas with my family in January (2023), because the severe, paralysing pain was still very present.
From December 2022 to 2024, the pain would come and go without warning. Whenever it came, simple things like moving, eating, sneezing, coughing, walking, brushing my teeth, swallowing, became a painful challenge. The only relief I found was lying in bed doing nothing. Interestingly, this year the severe, paralysing pain has been mild to moderate. And thankfully, since December 2022 until today, I have not experienced bowel issues, numbness and inbalance (symptoms my neurology doctors said to look out for).
What is Chiari Malformation?
Eventually, I was given a diagnosis: Chiari Malformation.
September is Chiari Malformation Awareness Month – a time to highlight a rare but serious neurological condition that affects the brain and spinal cord. Chiari Malformation occurs when the lower part of the brain, the cerebellar tonsils, extends into the spinal canal. In simple terms, part of the brain sits lower than it should and pushes into the space where the spinal cord begins.
This can disrupt the normal flow of cerebrospinal fluid (CSF), place pressure on the brain and spinal cord, interfere with how the nervous system functions, because of this, patients with Chiari Malformation may experience severe headaches, neck pain, dizziness or balance issues, weakness or tingling in the limbs, difficulty swallowing or speaking.
For me, some of these symptoms began to make sense in hindsight. The pain, the triggers, the unpredictability, it wasn’t random. It had a cause.
What is Syringomyelia?
Along with Chiari Malformation, I also have Syringomyelia.
Syringomyelia is when a fluid-filled cavity known as a syrinx, forms within the spinal cord. Over time, this cavity can expand, putting pressure on the surrounding nerves and disrupting normal nerve signals.
It is often a complication of Chiari Malformation, and in my case, the two are connected.
Symptoms of Syringomyelia can include pain, weakness, stiffness, loss of sensation or movement in mored cases.
Hearing these diagnosis was both clarifying and confronting. Clarifying, because the symptoms finally had a name. Confronting, because it meant adding another layer to an already complex medical history. And perhaps a sense of concern. Words like “bowel issues” and “numbness” from the neurologist, and from googling cases of Chiari Malformation and Syringomyelia, made me think of the worst case scenario.
Will I end up in a wheelchair? Will I be part paralyse?
But I didn’t entertain that thought and question, because as of right now I’m only having mild to moderate pain and no numbness, bowel issues, and imbalance. After 3 decades (and still counting) of being a patient, I’ve learned to NOT look ahead of time – it doesn’t help (I should type more about this on another post).
Treatment for Chiari Malformation
Some live with mild symptoms, but in more severe cases, surgery (posterior fossa decompression) is used to relieve pressure and restore CSF flow.
During my neurology appointment last year (2024), it was advised that if I had any numbness or mobility issues go to the emergency, and this year, surgery was mentioned and recommended for me. Since my pain level has gone down, I’m able to hold on for now.