The story of Chrissie
From Angioma Alliace:
“Cavernous angiomas are vascular lesions comprised of clusters of abnormally dilated blood vessels. These lesions can be found in the brain, spinal cord, and, rarely, in other areas of the body including the skin and retina. Multiple names refer to this condition:
cavernous angioma
cavernous hemangioma
cerebral cavernous malformation (CCM)
cavernoma
Cavernous amas are typically described as having a raspberry-like appearance due to their composition of multiple bubble-like structures called caverns. Each cavern is filled with blood and lined by a specialized cell layer called the endothelium. Endothelial cells are the basic building blocks that work in conjunction with other cell types to form blood vessels. In the case of cavernous angioma, the bubble-like caverns are grossly dilated vessels that leak due to defects in the endothelial cells and due to the loss of other structural components that are required for normal vessel walls. Patients may present with a single or multiple cavernous angioma lesions. Lesion size is variable, ranging from microscopic to a few inches in diameter and the lesions may cause a wide variety of symptoms including seizures, stroke symptoms, hemorrhages, and headaches.”
My journey with Cavernous Angioma began one afternoon in January 1999, 21yrs ago. Playing in the back yard with my then almost 10 month old, first born son, when he began with peculiar behaviour/symptoms. Sitting in the backyard swing, I noticed him stop giggling & begin staring off into space. His eyes would also become dopey, glassy & red like he was extremely stoned. This glassy redness would gradually build up like a contraction over a period of 30 seconds to 1 minute & then disappate where his eyes & behaviour would return to normal. This occured every hour or so.
That afternoon I managed to get a dr’s appointment for my son to be checked over. The GP had no insight into his symptoms but stated he had a slightly red throat & sent us on our way. That evening the episodes ramped up occuring every few minutes. Because it was a Friday night & Friday nights in any hospital Emergency Dept can be crazy, we decided to monitor & hold out until the morning to take my son to the local hospital.
Early next morning we packed him up & went to emergency. Luckily we were seen immediately with the Paed registrar requesting a CAT scan. Unfortunately, the hospitals CAT scan machine was out of order & next minute we were shipped via Ambulance to the City Hospital where imaging could be done. For the next 24hrs while waiting for the CAT scan nurses and drs tried all manner of things to see if anything may be causing these episodes. We tried opening and closing blinds to see if light affected things, but there was no change.
Sunday afternoon, sitting in my sons hospital room, the Dr came in the room to deliver results from the CAT scan. I knew something was off based on his body language & inability to look at me. His first words were “This is every parents worst nightmare. It’s a brain tumor”. I completely lost it & ran out of the room. My parents could hear me howling from the other end of the ward.
I regained my composure & re-entered the room to establish a plan of attack. At that stage the Dr had said the tumor was the “size of a golf ball” but nothing could be 100% certain until they performed surgery & biopsied what they were dealing with. Surgery was scheduled that friday, 5 days later & would take approx 4hrs.
Surgery day came & my precious first born son was handed over to the neurosurgical team with my tearful words “He’s in your hands. Please look after my baby”. The surgery wait was the longest wait of my life. 4 hours had passed and still no word from the ward. Then 5hrs, then 6hrs, then finally 7 hours later we recieved the call that surgery was over & my son was in ICU in recovery. We met with the neurosurgeon prior to heading to ICU. The neurosugeon informed us that the surgery was a success but what had inially been thought to be a golf ball sized brain tumor was in fact what he believed to be either AVM or a Cavernous Angioma which had bled leaving haemosperin staining/dried blood. The ‘golf ball size’ came from the amount of dried blood around the cavernoma that had occurred as a result of the bleed.
We then prepped ourselves for what we would see in ICU. My tiny boy, not even walking yet, was hooked up to tubes, head wrapped in bandages, drain in his head, attachments to his little toes and bruising in his little arms from the countless bloods and needles he’d had that week. Barely conscious but quietly sucking on his dummy. It broke our hearts into a million pieces & I was petrified to touch him for fear of breaking him. By that afternoon, he had recovered enough to be moved to a ward for recovery. 2 days later, he was up and running in his walker, chattering away as if nothing had happened. Meanwhile dad and I were still in shock. We were discharged the following week.
Immediately post discharge, my sons father and I were sent for mri imaging as the neurosurgery team advised that there can be a strong family history of AVM or Cavernous angioma – they still weren’t 100% sure what they were dealing with. Imaging was done & it was thought that I in fact had Cavernomas. I was sent on my way with no treatment other than follow up now & then. 2 yrs later my son was discharged from outpatients and I was told to live my life with my son. So we did.
Fast forward 13 yrs where my son began having regular headaches, as did I. We reconnected with our local hospital outpatients where an MRI of my sons brain was performed. 13yrs later, imgaing had improved significantly & this time I was informed that he had ‘extensive’ (more than 20) cavernoma’s on his brain & evidence of another bleed. There were also brain changes which indicated brain injury as a result of the surgery 13yrs prior. I too was again sent for an MRI. A week later I was told I didn’t have Cavernomas and I was in the clear. Surprise to me! As for my son, he remained to be monitored & showed no epileptic activity via EEG.
5 or so years later, I began having numerous migraines with accompanying odd symptoms (flashes of light, dizziness, tic/stutter, feeling dopey etc) that would last often times, weeks at a time. I scheduled an appointment with my GP who then referred me to a Neurosurgeon. Imaging was performed again but this time it was confirmed that I in fact did have multiple Cavernomas more than what shows in attached pictures) with evidence of bleeding & blood staining. We had actually caught a Cavernoma mid bleed during my mri showing that this particular Cavernoma was sitting on my left ventricle and having micro bleeds into the cerebral spinal fluid of that ventricle. In consultation with my neurosurgeon, we had weighed up the options of surgery & Gamma Knife Radiation where we determined there was no guarantee I’d come out of surgery the same way I went in. I was working & functioning (aside from these episodes) & we did not want to potentially change that with tricky brain surgery. Gamma Knife was no guaranteed success either. We took a “watch & see” appproach with a referral also to be sent to Genetic Health QLD for genetic testing to either confirm or deny a genetic link.
Genetic testing proved a CCM1 gene mutiation – famlial cavernomas. So far in my family, my son & I are the only people to be diagnosed. No one else has had testing. I’m still in the “watch & see” phase 3 years later and still having neurological symptoms. I am about to undergo an EEG to check for seizure activity. My neurosurgeon is concerned there may be some activity as some of my symptoms involving dizziness & a tic/stutter along with flashes of light in my vision.
21 years later, what a freakin journey! I continue to manage mine & my sons Cavernomas as best we can with the medical support we have. My son was left brain injured with Autistic like traits as a result of surgery. Me, I’m still plodding along, working and managing my disease. I work in Palliative Care on a reduced work load, due to often times debilitating neurological issues & some other health issues, but all in all, I’m grateful that both my son & I wake up every morning & get to live another day. Not only are my son & connected by heart, but now also by brain, heart & mind completing a full circle.
I’m grateful for this experience with my son, even though it was extremely traumatic. It activated the Pro-Active warrior part of my brain, which made me research & arm myself with as much information & support I could muster for the road ahead. Our journey’s aren’t over but we’re informed, aware but most of all, alive.