Wednesday, 28 March 2012


While working through my own "debriefing" of the events at the clinic last week, I have been able to evaluate why I fell apart.
By "working through" I mean thinking about every little detail and accepting the information.

I entered a situation that was very different to last years A-T Clinic.

Last year, after the initial diagnosis, we had been told in Melbourne "go home and enjoy every day. Cherish your little girl. There is nothing we can do help you".

When we arrived at our very first A-T clinic in March 2011, I was given a very strong feeling of HOPE.
There were many people researching and trying to find at least a treatment for A-T.

In Melbourne, Scott and I were given the impression that nothing was being done.
In Brisbane we learnt this was very untrue.

Last week was very traumatic for a number of reasons.

Amelia was very frightened and kept saying "I am scared".
She also cried a lot.
She had to have lots of tests on machines while awake.
She would not participate in having an MRI because she was so frightened of the machine.
As much as I would love to have the effect of the A-T on Amelia's brain monitored, I cannot force her to do something she is so scared of.

The anesthetic was frightening.
The 4.5 hour wait at the hospital did not assist with the anxiety levels (for Amelia or myself).
While under anesthetic, Amelia had skin removed from her arm and nose for stem cell research.
The scientists are hoping to create "A-T free" cells with the intention of injecting Amelia with them at a later stage.
This would help replace the ones dying.
Obviously only a possibility at this stage.

While asleep they also took various blood tests.
These will determine what "type" of A-T Amelia has and check her immune system.

She woke up distressed and sad.

Then I was taken away to have the skin biopsy taken from my arm.

The doctor doing the procedure did make it a little easier.
He said "I am about to give you a little prick from a big prick" while administering the local anesthetic.
Then proceeded to tell me "I know how to do this because I have been studying it all night on You Tube!!".
He gave me a good laugh.

We did not leave "outpatients" till 6pm on that second day.
Amelia managed to sleep 11 hours that night.

The next day was just as busy.
Lots of clinicians needed to see Amelia and I.

I realised very quickly the decline Amelia has experienced in the last 12 months.
The eye tracking was a lot slower.
Her vision is becoming blurry.
The reliance on the manual wheelchair more.
The fatigue........

The respiratory specialist spoke of Amelia's lungs being extremely healthy for someone with A-T.
Then he proceeded to explain the danger to her lungs from now on.
The need to listen for a "moist cough" while eating, drinking and resting.
This would mean that something has "passed" into the lungs instead of the stomach.
To be aware that a feeding tube may be needed sooner rather than later (or at least a thickener in liquid drinks) to prevent any damage to the lungs in the future.

Now, of course, I am worried EVERY cough is a "moist cough".

Then I had my nasal procedure.
I experienced nausea and tears all afternoon, but still needed to sit with 3 more clinicians.

We have returned with a lot of vitamins and antioxidant liquids.
This will be part of a study on the immune system and neurological decline.

I am experiencing difficulty in getting these "into" Amelia.

Finally it was the realisation that we will never go back.
We will never get back the brain cells lost.

The OLD Amelia will never be our Amelia again.

We may be able to "halt" the disease and stop it progressing but when will that be?

Makes me question "quality" of life over "quantity".

So, the past 8 days have been about grieving....again.
Accepting the future we have been handed and accepting Amelia's progression into A-T ......again.

I am not boarding the pity train and I am not spiralling into depression.
I have just been presented with a realistic focus on Amelia, A-T and our family.

I can actually say I am glad because I can be better prepared for what is ahead.

Finally, in my processing, I realise how RAW I felt last week.
How unbelievably naked it feels to have everything and everyone far away and just the disease in front of you.
I realise how lucky our family is to have such a large amount of support and love around us everyday........



  1. Thank you so much for sharing your story. You have a beautiful daughter and my thoughts and prayers are with you and all of these amazing A-T children and there families. I have 2 (maybe 3)children with A-T and I have found a supplement that has given us "real hope". We have seen miracles with this product and want to share it with others who have A-T children. To learn more go to and watch the abcprime time. It is probably something you have never heard about because it is not a pharmaceutical product and not recognized by the medical community as a whole. To read our story visit my blog at I would love to hear your feedback and keep in touch with you.

  2. This illness sounds as debilitating as my sons ...I truly hear where you are coming from ..have walked your path if you ever need to talk I'm here lady
    Cheers sylv