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,
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


What is an atypical teratoid rhabdoid tumor?

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
  • 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
  • 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?

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.

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”

What are the symptoms of atypical teratoid rhabdoid tumor?

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)

child’s symptoms may vary based on his age and the location of the tumor.

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.


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.

back to the genetics….

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

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.

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.

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.

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).

conducted a successful campaign to have these recommendations implemented in

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.

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
. 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.

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.

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.