MRI Preparation.. a new dept ‘Genetics’

So it was around this time we were also visiting the Mercy Hospital for our regular paediatrician appointments, and also continuing the additional tests we had from birth. The concern with Chiara at this stage, was that her head was still small, but then again to me her whole body seemed small… and tiny and perfectly proportioned.

At birth, they took my blood to test for any genetic issues that may of been passed down. They also took Mauro’s blood and so far nothing was showing up.

One of the test was: Carrier testing, used to identify people who carry one copy of a gene mutation that, when present in two copies, causes a genetic disorder. Again this test was clear. I shared with my Pead that I was worried that something was wrong with Chiara, she was becoming more and more unsettled, the casting was becoming more and more traumatic, she wasn’t breast feeding well and lastly (I hate to admit this one), but every now and then when I hold her, sometimes her movements appeared “spastic”. I recall sharing this with Mauro one night, and Im sure he thought I was overly sleep-deprived.. and just needed a good nights rest 😉

So after lots of conversation, it was decided that an MRI was to be conducted.

We were then handed over the genetic department, for an initial meeting and from there an MRI was booked (although we were told by our Paed that it may take as long as 6 months to 1 year to actually get the MRI as there is such a long wait). To my surprise, we received a letter for the MRI to occur in less than 2 weeks time… hhmmmm I did have a panic, why have they moved us through so fast?

After meeting with a genetic doctor, she raised some concerns based on her observations with Chiara. Back to the size of the head, and the constant drooling and her muscle stifness in her lower limbs. Dad (FIL) was with me during this meeting, and he was fantastic in asking questions and perhaps trying to normalise the information that was coming through.

The real worry had already set in for me… I could tell this woman who sat before me could see a lot more than Dad and I. I left the meeting with a heavy heart. Dad tried to reassure me that nothing was wrong, they are just being over-cautious. But again, mothers intuition took over and in the depths of my mind I knew something was wrong… seriously wrong and I suffered in silence most of the time… or I may have a cry to a family member where they would tell me to relax – it will be okay.

Sleepless nights kicked in, so I phoned and asked her to be straight forward with me – what did she think was happening with Chiara?

“Natalie, I think there is something going on with Chiara, I have a number of concerns about her head size, drooling and hypertonia of the lower limbs. Let’s wait for the MRI”….


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