Thursday, 8 March 2012

An encounter of the unusual kind......

Two entries in the last 24 hours.
I am on a roll !!!

But something happened this morning that I really have to tell you about.

Amelia and I went to the shops after dropping Tom at school.
Amelia will be attempting going to mainstream school after recess on a Thursday as well as all day Fridays.
Her new teacher has "struck a chord" with Amelia by getting the children to do "projects".
Amelia LOVES projects and was eager to try and attend today.

Anyway back to my story.......

We went to our local shopping centre.
Amelia is loving saving up her money and buying "things" that she has liked in our "browse the shops" days.
She was desperate to get a Moshi Monster bracelet she really liked.

After we had finished talking to our friend, Meredith, a man hand signaled us to come over.
Having no idea what he wanted, I went over cautiously.

He was elderly and appeared restless.

"Are you ok?" I asked.
He leaned into me after staring at Amelia for what seemed an eternity and said
"What is wrong with her?".
He was European and had a very strong accent.
"Ataxia Telangiectasia or A-T" I answered.
He kept staring at her and appeared to become even more restless.

Then he started crying.

I didn't know what to do and realised Amelia was right there with us so I said
"She is ok Sir. She is very happy. She will be fine".

"Can I please do something with her" he asked......pleading.

"Ok" I said wondering where the hell this was going.

He handed me his bags and placed his hands within inches of the side of her head.
He starts humming words I do not understand.
Amelia stares at him in wonder.
He moves his hands from the top and bottom of her head and to the sides constantly while reciting these unknown words.

By this stage he is sobbing.

After approximately 60 seconds he stops.
Says "she will always have an angel with her now"
grabs his bag and walks away.

Did he know?
Did he know just from looking at her?
Did he feel something when his hands were close, the fact he got so upset?

I do not know but the feeling I had after he left was unbelievable.
It was calming.
It was surreal.

She was just so happy to take an angel to school with her !!


Wednesday, 7 March 2012

The Wonder of Google

Welcome to my new hobby.
Researching Ataxia Telangiectasia and finding out what is being discovered.

Some of it may be false and some may take the researchers to a dead end
One of the only things that helps me get through my day is

I have done some cutting and pasting and thought you may all enjoy reading what I have found so far.......

With the treatment for Ataxia Telangiectasia patients getting into full swing, it is very soon that the condition can be handled very well professionally.
 Research is still going on in this respect.

EryDel S.p.A. (Urbino, Italy) said EryDex encapsulated in autologous erythrocytes met the primary endpoint in a Phase II trial in 22 patients with genetically-confirmed ataxia telangiectasia. The product significantly reduced the total International Cooperative Ataxia Rating Scale (ICARS) score from baseline to six months vs. controls (p=0.02). The controls were not disclosed. EryDex is a solution of dexamethasone delivered by encapsulation into autologous erythrocytes. EryDel plans to discuss the results with regulatory authorities and develop plans for additional trials that would lead to filing for worldwide regulatory approval. Ataxia telangiectasia is a progressive neurological autosomal recessive disorder

Allogeneic hematopoietic stem cell transplantation (HSCT) has not been a therapeutic option in ataxia telangiectasia (AT) due to overwhelming toxicity of conditioning in the context of the global DNA repair deficiency. Furthermore HSCT is unable to cure neurological involvement of AT.

We are very excited to share this note that Brad Margus sent to over 400 researchers and clinicians:

Dear A-T researchers and clinicians:

Earlier this month, the A-T Children's Project joined others in sponsoring a meeting in India that included presentations about the ATM protein and related biological pathways. In addition, an excellent, clinically-oriented meeting has been planned by our English colleagues for this June that will focus on imaging studies, clinical scales, optimizing the management of the pulmonary, cancer and immune problems in patients, and therapeutic strategies such as steroids and read-through compounds.

I have now asked our A-T Children's Project staff to organize a third conference, for October of this year, that will focus solely on treatments for the neurological problems of ataxia-telangiectasia, sharing minimal overlap with these other meetings.We hope to bring together longstanding A-T researchers and clinicians as well as newly recruited experts in cerebellar function, movement disorders and drug discovery to prioritize treatments that can be tested in patients soon and to identify obstacles that may be preventing more rapid discovery and evaluation of additional therapies. 
email from AT Children's Project.

Follow the link below and watch the 2 videos

Status copied from A-T Society, UK. Message from William our Chief Exec - Research is coming together! The ATW conference in India has just taken place; the A-T Society is organising a big Clinical Research Conference in Cambridge in June (21- 23rd, just before the family day); and now I gather that the AT Children's Project are looking to organise a third conference in the autumn on treatments for the neurological aspects of A-T. Things are really starting to move. Exciting times..!

The initial report on the Italian Dexamethasone trial led by Prof Luciana Chessa are out. In this trial, patients received the drug via a new technique where it is inserted directly into the red cells of the patients’ own blood. The good news is that there was a complete absence of the typical steroid side effects and there was a significant improvement in the neurological symptoms of some participants. However, there were also problems in getting the drug into the red-cells of some patients, which hadn’t been experienced with other conditions. The researchers, though, are positive they can resolve these problems and are hoping to organise a bigger trial in the near future. We will be studying the full results when published and working with them to assess the value and feasibility of setting up an arm of the trial in the UK.
AT Society in the UK.


Tuesday, 6 March 2012

The Positive Climb.....

On Sunday night I wrote a very depressive blog.

I realise that it is part of our "journey" and the feelings that make me "human", but I still do not like entering that world.
It is easier to get up in the morning and get through every day if we are looking at the positives in our lives.

I have a daughter dying slowly
I am SO lucky to have this little girl in my everyday life.

Which is better to live by?

It is easier to "carry on" with the latter version.
Well I believe anyway.

I also understand that we need to look at the "negative side" to stay grounded.

Last weekend we were presented with the negative side.
And we needed to be.
We have to make major changes..........

Amelia needs her self esteem, self-confidence and independence if she is going to have an "amazing life".
And our house, car and outings need to provide this for her.

But I needed this depression.
I needed the crying.
I needed to sit alone to accept THIS is happening.

Amelia has declined and we need to make changes to EVERYTHING.
We are REALLY on the pathway to losing our baby now.


I still cry now writing this BUT I am more accepting of it.

Recently I have had the pleasure of two newly diagnosed A-T families contacting me.
They found me through this blog.
We are like family.
A-T families will ALWAYS be together.
There is no judgement or assumption.
We understand each other.

But then there are the others........

My friend who is struggling with panic attacks.
My friend who's daughter has just been diagnosed with a learning disorder.
The mother of a child who's diagnosis is parallel with Amelia's.

These people have all contacted me.


I am absolutely honoured that ANY of the people mentioned above thought to TELL me.

I was always a friend to those in need and I always will be.

I had a BIG "falling out" with a family member on the weekend.

My dad always taught me "that your friends are just as crucial and important as your family".
I think the last 15 months have proved that.

Thank you to everyone in MY life.

But I say through many tears (healthy ones).......
if you are ever, ever, struggling please contact a friend..........

Many times this week I have played this song.
Please click the link and LISTEN to the words.


Sunday, 4 March 2012

The Fairy tale is over

Last year was like a fairy tale in an odd kind of way.

Newspaper Interviews.
Friendship and support beyond our wildest dreams.

The positive attitude and "amazing life" goal came naturally, because of the love and attention put on our daughter.

It made you believe everything was going to be fine.
If something like Amelia's Project could achieve so much, then HOPE was not such a difficult feeling.

We can do this.
We will sail through this with a smile on our faces.
Our Amelia would have the best life EVER.

She may even be cured in the future.
And she still may but this week showed us the very sad side of our future.

Today our beautiful OT came to our house (yes on a Sunday).
She wanted to talk to both Scott and I.
We spoke about what Amelia needs now and in the very near future.

Very overwhelming.

My gorgeous neighbours took the kids when I realised they could not hear what we were discussing.
(Thank you Mardi and Jason).

Here are some of the things discussed.

Hand rails front and back doors (approx $1000)
Hand rails on the toilet (approx $100)
Hoist or bath seat to get Amelia in the bath (approx $3000)
Ramps at front and back doors (approx $3000)
Replace 4 windows with safety glass (approx $1300)
Electric wheelchair (anywhere up to $30,000)
New car (sell mine)
Car conversion (anywhere up to $40,000)
Door frame widening (?)
Rearrange furniture in house for mobilty
Possibly turning our outside pergola area into a room, thus turning our long narrow house into a more open plan and easily accessible home for Amelia (approx $100,000)

This is all I can remember.

This is our future.

Everything is not going to be fine anymore........