Friday, 25 March 2011

Brisbane Day 4

I thought yesterday was exhausting but it was nothing compared to today.
We had appointments from 8:30am - 5pm.

To have so many people in the same place for such a rare disease is rare. As much as the disease is itself. Krissy Roebig has done amazing things by fighting for any child diagnosed with Ataxia Telangiectasia. I have met families who are in the same position as I am but their children were diagnosed 5 years ago. Their understanding, knowledge and communication with other A-T families here in Australia is just beginning. Just like our family. Thank you Krissy, Sean and Brashat for making things happen for our children.

To see all the children together is mind blowing. It is almost like they have been cloned. The head tilt, the slow processing, the effort to speak and the staggered walk. Something very prominent though is all the A-T children were very happy, affectionate and social. Just gorgeous kids. I have been lucky enough to build up a rapport with some and am honoured to be in their presence.....honestly.

Today Amelia had to fast till 11am. Very hard but achieved.
She had to have 2 tests done. They did not hurt but were "claustrophobic".
I told Amelia all along that I would not "make" her do any of them so the MRI on Wednesday was not completed and a body pod test today was not successful. I wanted Amelia to know that she was not going to be held down for anything, like in December, ever again. Hopefully I have built up her trust again.

Next we had to walk quite far for an appointment with a respiratory doctor. She explained the risk of chest infections and how they can be difficult to treat in children with A-T. She explained that it is advisable that we all get the flu and pneumonia injections.
The doctor then sent us for a lung fuction test which gave an excellent result and organised for a dermatologist to come and look at Amelia's hands and feet. She has had a skin condition for years and no one has been able to fix it. 6 doctors came and diagnosed excema and prescribed a long list of creams.

A lot of children have low immune systems. At this stage Amelia seems to not be affected by this. We spoke to immunology and discovered that we are very lucky that she is not constantly sick.

Finally we finished with Neurology. The doctor has been seeing us regularly over the last 3 days and is excellent.
Many positive comments came from this appointment and it was good to hear that Amelia is "correcting" many of her symptoms herself. For example, when she sways while sitting she can sit herself back up. When her eyes are having trouble tracking something she is able to correct her eyes quickly. Little comments that you grab hold of. A small positive to be happy about.

As we prepare to go home tomorrow I reflect on everything that has happened in Brisbane.
1.Melbourne RCH barely know anything compared to the assembled group up here.
2.The people here are doing their utmost to find patterns, common traits and treatment.
3. The research team are working closely with America, UK, Norway and Israel in establishing a valuable and ground breaking clinic.
4. There are 5 other families that are so wonderfully normal who are going through the same situation we are.
5. Doctors and specialists can have an approapriate bedside manner and show an understanding of your situation that borders on friendship.
6. Amelia can be extremely defiant and stubborn when she is bored!!

The time and patience given to me over the last few days has been amazing. I am coming home very satisfied that there is a group of people doing all that they can to try and save my little girl.
I have also made a new group of friends.


1 comment:

  1. Hello, I have just found your blog via a friend who has mentioned you life on facebook. I have 3 children and am originally from the Mornington Peninsula. I will look back over your story to familiarise myself. But quickley just wanted to say hello, one of my children has an extremely rare genetic disorder aswell.

    Love to you