Chiara’s MRI Diagnosis – heartbreaking day
The phone rang in between nappy change.. Grace wanting her toy….. and Chiara needing all of my attention for the task at hand. But I felt a deep sense of urgency to answer the call.
“Natalie, the genetic team have asked if you can come in today, we have the results for Chiara. Is your husband with you?”
“no he is at work” I replied.. voice as shaky as ever
“it’s best you ask him to leave work and come along, we need to see you both urgently”…
I call Mauro, we talk briefly and the next time I see him we are sitting in the waiting room at The Mercy Hospital – Genetics Department. All the yogic breathing I know so well, went out the door… I was sick with nerves and I knew we were about to receive some serious news… but what on earth could it be? She’s perfect I kept telling myself…
I could tell from the looks of both Chiara’s peadatrician and genetic doctor that things werent so good. Mauro and I sat calmly opposite them, while they took out a rather large file.. paperwork that would change our lives forever.
“I’m sorry, we have some very bad news…”
Tear’s streaming down my face and Mauro’s eyes widening as we awaited the next sentence.
“I’m sorry the MRI has come back with some serious results. Let me try and explain. She has something called Polymicrogyria. Poly = many, micro = small, gyria = folds. In very basic term’s instead of having quite well formed folds within her brain, we are seeing tiny little folds almost to the point the brain is appearing more smooth than in should. And these little areas of Polymicrogyria seem to be focused particulary around what we call the Perysivian area. Again, towards the back of the brain and in the middle of the brain, and its the area that controls speech and a lot of cognitive skills. So I guess, what is most worrying to you, what does this all mean for her development down the track.
This is where I would like you to see another genetic doctor, who is an expert in this particular condition – but in general – to be very blunt with you, what we expect with children with these kinds of findings is severe issues with their speech, with their intellectual cognitive development, and issues with their motor development – their ability to walk and get around independently. We have Chiara here who is still a baby, and its really hard for us to project the future for you. But I would expect in the long term, she will not walk.. and may need assiatance to get around. Also possible, more than likely, she will have some issues with communication and developing speech and language. Obviously they are the most important skills you expect a child to acquire…. the other thing that we do see commonly with children of Chiara’s findings, is seizures. Touch wood that hasnt happened yet, but most likely will occur. Again, we will liase with neurologists to investigate further. Is that all just completely overhwelming at this stage?”
“We understand that it must be a huge amount to take in at the moment”, she add’s.
During this time, I felt like I was dropping in and out of consciousness…. as I looked out into the rainy day. The same rainy day as the day mum told me she had been diagnosed with breast cancer a year earlier. I had watched her go through breast surgery, intense chemotherapy and radiation… she lost all of her hair but she never (not even for a moment) lost her Grace, my mother has always been such an exceptional role model, she is calm, graceful, angelic and her true positive spirit is something to aspire to, I believe it saved her life and now she is healthy, glowing and in remission. If mum can survive breast caner, then Chiara (& all of us) can get through this…
So I drop back into the conversation after my mind drifted….After my limited research from her recent “Microcephaly” diagnosis, I asked “Is there a life expectancy with this?”
“Um, yeh in general children who are disabled in a way that they are having seizures, or unable to walk or move independently.. a lot of these children pass away with things like pneumonia, they get a bad infection it gets into the chest and they cant recover. So yes life expectancy is shorter. There’s not a lot of documented cases of how long children have survived…”
“The sort of infections that can affect children like Chiara, can be like the common cold that we can get over, but Chiara may not..”
“We need you to meet with some other doctors and all we wanted to do today was flag with you both that things are quite severe with Chiara and her MRI results. You probably need to prepare yourselves, and your family, for the fact that Chiara is going to be quite disabled and will require a lot of assistance in the coming years….it will take a while for you and your family to accept….”
there was some more discussions…. and then the end of our meeting..
“Bye Natalie.. try and enjoy your baby..”
We left the hospital in silence.. we both drove home separately as Mauro came straight from work.
I can’t even put into words the depths of pain and agony I was feeling for Chiara…
As I drove past a church, observing the white cross against the backdrop of a very dark and grey sky.. I saw a brilliant RAINBOW. I looked up and smiled in between what felt like endless tears… there is a deeper meaning for all of this and I won’t ever give up in finding out why, let alone giving up on my daughter Chiara Diane.
As the words of our dear friends Hayley and Gus “We must believe the RAINBOW.. not the medical people”…
Hi, my daughter is 8 years old, she also has a polimicrogyria. It is a terrible disease with seizures, mental retardation. agression, disability to speak and swollow the food. I call it a monster disease.
Bless you on your journey. I know it’s so hard, I wish you and your beautiful daughter all the very best xxxx