It’s taken me a long time to address what are the first questions you ask when receive this kind of diagnosis.
The complete unfairness of it all gets you questioning everything, and I mean everything!
For those who have faith, it challenges your beliefs; and for those who do not have faith it challenges your lack of beliefs.
Is it karma? Has Cian, we, or anyone he has had contact with triggered the cancer?
We are now in a position, not to necessarily say what the cause was, but to at least rule out some things.
The first thing to understand is the type of cancer that Cian has. In my first blog I told anyone who was interested to research it themselves, as it might not be pleasant reading. I am now in a position to be able to discuss Cian’s condition and any consequences relating to it.
There are a few articles on the internet relating to it, but
I am going to use the text from www.dana-faber.org,
which I think has the most easy to understand descriptions. Please note, I have not had permission from
them, which I hope to retrospectively request… so this may need to be reworded
in the future. I am going to use their
text and then write in bold itallics what our experiences have
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What is an atypical teratoid rhabdoid tumor?
An atypical teratoid rhabdoid tumor, often called AT/RT, is a very rare and fast-growing tumor of the central nervous system. If your child has been diagnosed with AT/RT, there are a number of things that you should know:
- AT/RT's are part of a larger group of malignant tumors called rhabdoid tumors, which can occur outside of the brain in the kidneys, liver or other locations. Cian’s primary tumour was on his spine, with seeds of the cancer being found on the brain.
- In most cases, AT/RT is associated with a specific genetic mutation (INI1) that can occur spontaneously or be inherited. We have recently had the results of our genetics tests which show that Cian does not have this specific mutation. I will go into the genetics further in this article.
- AT/RT can occur anywhere in the brain but are most commonly found in cerebellum (base of the brain) and brain stem (the part of the brain that controls basic body functions). As previously stated, Cian’s tumour was located in his spine, which makes his case particularly rare.
- This type of tumor usually occurs in children under 3 but it can sometimes occur in older children and adults. Cian was 4 and three quarters when he was diagnosed.
- AT/RT was previous thought to be a type of medulloblastoma. However, it is now known to be a separate type of tumor and is treated differently.
- AT/RT represents only 1 to 2 percent of childhood brain tumors. Childhood cancer is thankfully rare, and Leukaemia make up the majority of these cases. Brain tumours are more rare, and AT/RT only accounting for 1 or 2 percent of those hopefully highlights how rare it actually is.
What causes atypical teratoid rhabdoid tumor?
As a parent, you undoubtedly want to know what may have caused your child's tumor. More than 90 percent of cases of AT/RT are associated with a genetic defect. However, the cause of this abnormality is not known.
- This genetic mutation (INI1) may be inherited, in which case tumors may also occur in the kidneys and other parts of the body.
- This defect may also occur spontaneously.
The genetic mutation they are describing is within SMARCB1, which is a gene known to supress tumours. Therefore if that gene is ‘inactive’, then your body is going to find it difficult (or impossible) to combat any tumour.
We are so relieved that Cian is (as much as they can tell) unaffected by this, so this gives me the confidence that Cian’s body can fight any potential future recurrence from occurring.
It's important to understand that these and other brain tumors most often occur with no known cause. There's nothing that you could have done or avoided doing that would have prevented the tumor from developing.
We have been told by our consultant that there was nothing environmental or trauma related that would have triggered Cian’s cancer, and “nobody was to blame”. I wasn’t sure whether this was a statement of fact, or whether it was to try to prevent parents from second guessing every decision they have made; or reliving every knock, bump or scrape that their child ever had. I am not the type of person that would be satisfied with the “it is just bad luck” statement.
What are the symptoms of atypical teratoid rhabdoid tumor?
AT/RT grows very rapidly and, as a result, symptoms can develop quickly over days or weeks. Common symptoms of AT/RT include:
- headache (especially upon waking in the morning)
- nausea and vomiting
- fatigue and lethargy
- trouble with balance and coordination
- increased head size in infants (hydrocephalus)
Your child's symptoms may vary based on his age and the location of the tumor.
The symptoms of a brain tumor may resemble other, more common conditions or medical problems. Always consult your child's physician for a diagnosis.
Cian’s symptoms presented as stomach pains that were originally attributed to abdominal migraines. In reality it was the pressure of the tumour restricting the spinal cord and transmitting the nerve pain to the front on his torso.
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What I hope the above shows is that not only is Cian’s condition rare, but the positioning of the primary tumour; the manifestation of the symptoms; the age that Cian fell ill; and the fact that no genetic link has been found, demonstrates that our situation is even more unprecedented.
So back to the genetics….
Although I am employed in forensics my scientific knowledge of DNA and genetics is very limited, but I do have a few friends and colleagues who specialise in this area, so I want and expect to be challenged on anything I say about the genetic elements.
Unfortunately, I do have some experience in cancer and DNA as mummy case (Lorraine) was diagnosed with triple-negative breast cancer in October 2012 at the age of 33.
Thankfully, through the excellent service provided by the NHS, through the treatment of Chemotherapy (including a clinical trial), surgery (lumpectomy) and radiotherapy she is now in remission.
During this time we were told that Lorraine’s cancer had a 10%-15% chance of being genetically related due to possible mutations of the BRCA1 or BRCA2 genes and we were encouraged to be tested. This was highlighted in the media by Angelina Jolie and Michelle Heaton deciding to have preventative mastectomies to hopefully stop the onset of cancer.
At our meeting with the genetic specialists we were told that there would be no funding for these tests in Wales, despite recommendations that anyone over the 10% threshold should receive them (which had been adopted in England).
We conducted a successful campaign to have these recommendations implemented in Wales. http://www.bbc.co.uk/news/uk-wales-31555794
So we knew that Lorraine was negative for BRCA1 and BRCA2, but with Cian’s diagnosis it flagged up other potential possible genetic issues, especially due to the young age of both.
As previously mentioned the INI1 / SMARCB1 gene was explored for a mutation, as this accounts for over 90% of AT/RT diagnosis. This was found to be normal.
second gene that was tested was P53, which is also a known tumour suppressor. This is linked to a condition called Li-Fraumeni
Syndrome. Thankfully, this was also
normal. The prospect of both Lorraine
and Cian having Li-Fraumeni with Dylan and Bethany also having a 50/50 chance
was incomprehensible, as it would have significantly increased the chances that
I would see them all through cancer diagnoses.
Therefore, we have been told by the consultant that there is nothing that we could have done to prevent the onset of this cancer, which rules out trauma and environment; we have also had test results that have shown (as far as current research allows) that there is no genetic causal link.
So, what the bloody hell has caused it!!
That is the question that I am going to pose the academics, scientists, researchers out there. As I have said, I am not one to be satisfied with “it’s just bad luck”. I have worked with scientists for a long time, and what makes them so brilliant and annoying in equal measure, is their ability to ask “Why?” after every statement… like an annoying 3 year old… but also with the motivation to answer their own question through research, experimentation and testing.
I will be forwarding this post onto a number of people and institutions that have already conducted some research into AT/RT and hope that someone will take up this challenge.
This is because although it is reassuring to know that no genetic link has been found, the fear of whatever caused Cian to develop this dreadful disease in the first place could still be present after Cian has completed his treatment.