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.
xxx
Amelia is a beautiful ten year old who has been diagnosed with Ataxia Telangiectasia.
Friday, 25 March 2011
Thursday, 24 March 2011
Brisbane Day 3
Today was a BIG day.
So much information and knowledge about Ataxia-Telangiectasia.
I had to really listen today and try to absorb what I was being told.
This was a bit hard because Amelia was the worst I have ever seen her today.
Great difficulty walking, a lot of trouble talking and very grumpy that she was "bored". Tonight she has also asked if she needs glasses because her eyes are sometimes blurry............
I will try my best here to document what I can about what I have learnt, but it may also be a post all on it's own, once we get home.
After such a late night last night at the playcentre we were awake at 6am today.
Our first appointment today was in the research centre of the hospital. An area set up by The University of Queensland. We had to be there at 8:15am.
Our mode of transport is taxi in Brisbane. There is no way I would be able to navigate my way around this city but taxi's are proving to be very costly. And every taxi driver has English as a second language so far. The amount of times that they just stare at me blankly once I give them the address........
We arrived for our first appointment and it was good to see familiar faces after last night. Amelia and I were taken into a "boardroom". Sitting at the table was Neurology, genetics, the main organiser of the A-T clinic and later a nutritionist. The discussion and questions began and I knew very quickly that I wanted Amelia gone so that I could talk openly. Thankfully the staff took her away and entertained her for an hour (she has a new best friend - Greg. He is a giant kid!).
The medical staff in the boardroom wanted to know everything. Our story from when Amelia was diagnosed with Cerebral Palsy to now.
I was then asked what I wanted from the clinic and to see achieved.
I said "for you to find a cure or to at least slow the progression down".
The neurologist then explained about the A-T convention she attended in February in Frankfurt. Where they are with the research worldwide and what they know already. At the moment everything is pointing towards creating healthy stem cells through Amelia's cells. They may be learning how to do it in the science lab but they then need to learn how to make it happen in Amelia's body. She explained that she had created a poster about what is being done and a powerpoint presentation to be shown at the convention. I feel very lucky that she has offered to email all of this to me.
I learnt that everyone has a "gene" that organises all of the other genes into a healthy organised pattern. Amelia's "organiser gene" does not work.
The main affects of A-T are neurological, respiratory and cancer. They believe that the respiratory and cancer are treatable but they are trying to find a way to treat the neurological.
We discussed Amelia's appettite and my concern with her recent weight gain. They explained that her body has to work so much harder than everyone elses, that she constantly needs food and drink to replace the energy being lost. The choice of food could be better but I was not to be concerned that she is always hungry. Which also then led to a discussion on the fact that she is always hot and sweaty. They explained that because she has to work so much harder to do ANYTHING it is like she is constantly exercising. To talk, walk, eat, swallow, even breath is a lot of work. Anything that requires the use of muscles.
I walked out regretting that I did not record that meeting.
Next I had a meeting with the genetics doctor.
He explained the risk of me getting cancer. I am going to ask about Scott tomorrow.
As soon as I return I will need to start regular screenings to catch it immediately.
He also explained how lucky we are to have this clinic. I already know that though.
After 2 hours down time at a cafe with some of our new friends we returned to meet Martin Lavin. He, like Richard Gatti in America, is a major researcher in the area of A-T.
He spoke for a long time and I tried to absorb everything. Amelia was grumpy and bored but I had to ignore her complaints so that I could make the most of this information he was giving us.
Martin has been researching A-T for 30 years.
In 2010 he attended a "very clinical" conference on A-T in Los Angeles. In 2012 there will be another in New Delhi.
He mentioned a clinical trial that will be happening soon with a low steriod. It may be able to slow down the progression of the neurological side of A-T. He spoke of drug screening, stem cells and samples of skin and blood from kids and parents. He explained how all A-T researchers are working together on separate parts of finding answers. He spoke of drugs that work on animals but are too toxic, at this stage, to give to humans. He explained the need for funding and the fact that they can only continue with money. The federal government may be cutting medical research in the new budget and this will be catastrophic for us. He spoke of Krissy and Brashat and the work that she has done in the last few years. But he said everyone needs to step up and help her. At the moment she is doing all of this work for us on her own. This only made me more determined to fundraise and attend the gala dinner in August for Brashat.
So much information, I hope I have documented it correctly here.This was only part of his talk.
On Tuesday June 7th there will be a "whole day event" for parents and researchers in this building to learn everything THEY know. Researchers from America will hopefully be attending. I believe that Scott and I need to attend this.
Yesterday I learnt that Amelia can no longer drink out of a drink bottle. She needs a straw cup to stop fluid going into her lungs (the head tilts forward instead of back). So much to take in.
Amelia and I came home today, laid on the bed and fell asleep cuddling. It was 2:30pm.
We treated her to dinner at the Pancake Palour and came home to watch Disneyland on Getaway (thank you for telling us about it Kirsty and Shell).
Final clinic day tomorrow and then home Saturday.
After what was a "full on" day I found myself fighting negativity.
No parent should have to go through this.
We should be at home going to dancing classes and netball practice like other children get to do.
We should be at home with Scott and Tom having dinner and talking about our day and looking forward to the future.
But as always you get over it and continue on.
xxx
P.S thanks for your concerns about my mum. I pass food under the bathroom door occasionally !!
So much information and knowledge about Ataxia-Telangiectasia.
I had to really listen today and try to absorb what I was being told.
This was a bit hard because Amelia was the worst I have ever seen her today.
Great difficulty walking, a lot of trouble talking and very grumpy that she was "bored". Tonight she has also asked if she needs glasses because her eyes are sometimes blurry............
I will try my best here to document what I can about what I have learnt, but it may also be a post all on it's own, once we get home.
After such a late night last night at the playcentre we were awake at 6am today.
Our first appointment today was in the research centre of the hospital. An area set up by The University of Queensland. We had to be there at 8:15am.
Our mode of transport is taxi in Brisbane. There is no way I would be able to navigate my way around this city but taxi's are proving to be very costly. And every taxi driver has English as a second language so far. The amount of times that they just stare at me blankly once I give them the address........
We arrived for our first appointment and it was good to see familiar faces after last night. Amelia and I were taken into a "boardroom". Sitting at the table was Neurology, genetics, the main organiser of the A-T clinic and later a nutritionist. The discussion and questions began and I knew very quickly that I wanted Amelia gone so that I could talk openly. Thankfully the staff took her away and entertained her for an hour (she has a new best friend - Greg. He is a giant kid!).
The medical staff in the boardroom wanted to know everything. Our story from when Amelia was diagnosed with Cerebral Palsy to now.
I was then asked what I wanted from the clinic and to see achieved.
I said "for you to find a cure or to at least slow the progression down".
The neurologist then explained about the A-T convention she attended in February in Frankfurt. Where they are with the research worldwide and what they know already. At the moment everything is pointing towards creating healthy stem cells through Amelia's cells. They may be learning how to do it in the science lab but they then need to learn how to make it happen in Amelia's body. She explained that she had created a poster about what is being done and a powerpoint presentation to be shown at the convention. I feel very lucky that she has offered to email all of this to me.
I learnt that everyone has a "gene" that organises all of the other genes into a healthy organised pattern. Amelia's "organiser gene" does not work.
The main affects of A-T are neurological, respiratory and cancer. They believe that the respiratory and cancer are treatable but they are trying to find a way to treat the neurological.
We discussed Amelia's appettite and my concern with her recent weight gain. They explained that her body has to work so much harder than everyone elses, that she constantly needs food and drink to replace the energy being lost. The choice of food could be better but I was not to be concerned that she is always hungry. Which also then led to a discussion on the fact that she is always hot and sweaty. They explained that because she has to work so much harder to do ANYTHING it is like she is constantly exercising. To talk, walk, eat, swallow, even breath is a lot of work. Anything that requires the use of muscles.
I walked out regretting that I did not record that meeting.
Next I had a meeting with the genetics doctor.
He explained the risk of me getting cancer. I am going to ask about Scott tomorrow.
As soon as I return I will need to start regular screenings to catch it immediately.
He also explained how lucky we are to have this clinic. I already know that though.
After 2 hours down time at a cafe with some of our new friends we returned to meet Martin Lavin. He, like Richard Gatti in America, is a major researcher in the area of A-T.
He spoke for a long time and I tried to absorb everything. Amelia was grumpy and bored but I had to ignore her complaints so that I could make the most of this information he was giving us.
Martin has been researching A-T for 30 years.
In 2010 he attended a "very clinical" conference on A-T in Los Angeles. In 2012 there will be another in New Delhi.
He mentioned a clinical trial that will be happening soon with a low steriod. It may be able to slow down the progression of the neurological side of A-T. He spoke of drug screening, stem cells and samples of skin and blood from kids and parents. He explained how all A-T researchers are working together on separate parts of finding answers. He spoke of drugs that work on animals but are too toxic, at this stage, to give to humans. He explained the need for funding and the fact that they can only continue with money. The federal government may be cutting medical research in the new budget and this will be catastrophic for us. He spoke of Krissy and Brashat and the work that she has done in the last few years. But he said everyone needs to step up and help her. At the moment she is doing all of this work for us on her own. This only made me more determined to fundraise and attend the gala dinner in August for Brashat.
So much information, I hope I have documented it correctly here.This was only part of his talk.
On Tuesday June 7th there will be a "whole day event" for parents and researchers in this building to learn everything THEY know. Researchers from America will hopefully be attending. I believe that Scott and I need to attend this.
Yesterday I learnt that Amelia can no longer drink out of a drink bottle. She needs a straw cup to stop fluid going into her lungs (the head tilts forward instead of back). So much to take in.
Amelia and I came home today, laid on the bed and fell asleep cuddling. It was 2:30pm.
We treated her to dinner at the Pancake Palour and came home to watch Disneyland on Getaway (thank you for telling us about it Kirsty and Shell).
Final clinic day tomorrow and then home Saturday.
After what was a "full on" day I found myself fighting negativity.
No parent should have to go through this.
We should be at home going to dancing classes and netball practice like other children get to do.
We should be at home with Scott and Tom having dinner and talking about our day and looking forward to the future.
But as always you get over it and continue on.
xxx
P.S thanks for your concerns about my mum. I pass food under the bathroom door occasionally !!
Wednesday, 23 March 2011
Brisbane Day 2
Our day began at 5:30am.
Amelia woke up with the sun, so after having trouble falling asleep last night and a restless night, we are all tired.
Amelia and I went for breakfast at 7am and caught a taxi with Nana to the Royal Children's Hospital in Hersten at 8:15am.
While we were waiting for our first appointment we met our first A-T friend. Another child, exactly the same age as Amelia, and his mum. They are from Adelaide.
After a 1 hour meeting with a physiotherapist, I had almost a whole page of notes.
Next we met a speech pathologist and learnt a lot more. I was the geek with clipboard, paper and pen, taking notes while they talked.
When we went to the cafeteria for lunch, we were lucky enough to meet the neurologist researching A-T. She spoke of her "conference" in Frankfurt in February about A-T and the clinical trial currently happening in Italy with medicine and the brain degeneration associated with A-T. Very promising and "hopeful" conversation over lunch.
We finished our clinic today with a film of Amelia's walking at the gait laboratory.
After a swim in the hotel pool and a supermarket shop (both with Amelia), we left to meet the other A-T families at a play centre.
Wow.
What an experience.
We met 3 other children with A-T. All the children were 7 years old.
So many similarities and common traits.
All happy, smiling, stumbling and difficulty talking.
The parents were gorgeous.
Now we have to be at The University of Queensland at 8:15am.
So good night.
Must sleep so I can absorb more information.
xxx
P.S. Thank you for all the messages (phone and email). Even though I may not respond they are greatly appreciated.
Amelia woke up with the sun, so after having trouble falling asleep last night and a restless night, we are all tired.
Amelia and I went for breakfast at 7am and caught a taxi with Nana to the Royal Children's Hospital in Hersten at 8:15am.
While we were waiting for our first appointment we met our first A-T friend. Another child, exactly the same age as Amelia, and his mum. They are from Adelaide.
After a 1 hour meeting with a physiotherapist, I had almost a whole page of notes.
Next we met a speech pathologist and learnt a lot more. I was the geek with clipboard, paper and pen, taking notes while they talked.
When we went to the cafeteria for lunch, we were lucky enough to meet the neurologist researching A-T. She spoke of her "conference" in Frankfurt in February about A-T and the clinical trial currently happening in Italy with medicine and the brain degeneration associated with A-T. Very promising and "hopeful" conversation over lunch.
We finished our clinic today with a film of Amelia's walking at the gait laboratory.
After a swim in the hotel pool and a supermarket shop (both with Amelia), we left to meet the other A-T families at a play centre.
Wow.
What an experience.
We met 3 other children with A-T. All the children were 7 years old.
So many similarities and common traits.
All happy, smiling, stumbling and difficulty talking.
The parents were gorgeous.
Now we have to be at The University of Queensland at 8:15am.
So good night.
Must sleep so I can absorb more information.
xxx
P.S. Thank you for all the messages (phone and email). Even though I may not respond they are greatly appreciated.
Tuesday, 22 March 2011
Brisbane Day 1
Well.......we are here and it is HOT !!!
Have you ever experienced getting off the plane in 30 degree heat and 90% humidity ?
Major culture shock when you are from Melbourne !
Anyway airport, plane and hotel all good.
Had to move hotel rooms after I complained about wiping brown stains off the toilet seat BUT all good now ! lol.
Isn't it funny when you have something silly happen after a big day and you think it is hysterical ??!!!
My mum just accidently locked herself in the bathroom and I couldn't respond to her whispered screams for help (because she believed Amelia was asleep) because I was crying with laughter. I literally could not answer because I was laughing and crying so hard. Meanwhile Amelia was standing next to me hysterical too !!
Anyway early night now for a very early start tomorrow.
Have to go to a new place in a strange city but I am sure we will make it !!
Will let you all know tomorrow night how we go on our first day at our first A-T clinic.
xxx
P.S and because of the heat, Amelia and I had a beautiful 1 hour swim together in the hotel pool. We were giggling like little school girls.......oh hang on.......one of us is one.....and one of us is not! (but laughing at your mother locked in a hotel bathroom is probably not too grown up either!)
Have you ever experienced getting off the plane in 30 degree heat and 90% humidity ?
Major culture shock when you are from Melbourne !
Anyway airport, plane and hotel all good.
Had to move hotel rooms after I complained about wiping brown stains off the toilet seat BUT all good now ! lol.
Isn't it funny when you have something silly happen after a big day and you think it is hysterical ??!!!
My mum just accidently locked herself in the bathroom and I couldn't respond to her whispered screams for help (because she believed Amelia was asleep) because I was crying with laughter. I literally could not answer because I was laughing and crying so hard. Meanwhile Amelia was standing next to me hysterical too !!
Anyway early night now for a very early start tomorrow.
Have to go to a new place in a strange city but I am sure we will make it !!
Will let you all know tomorrow night how we go on our first day at our first A-T clinic.
xxx
P.S and because of the heat, Amelia and I had a beautiful 1 hour swim together in the hotel pool. We were giggling like little school girls.......oh hang on.......one of us is one.....and one of us is not! (but laughing at your mother locked in a hotel bathroom is probably not too grown up either!)
Subscribe to:
Posts (Atom)