Research

As many of you know I am in contact with families worldwide who have children with A-T.
Recently in Florida there was a BIG maraton at DisneyWorld for A-T.
The founder of ATCP was there.
It is the American organisation trying to find a cure through research and fundraising.
This man has "many millions" behind him now to support saving our precious children.

Below is a conversation that one of the mothers had with Brad Margus.

Families live in hope and crave for information on research.
This conversation shows the effort going in to helping our kids.

Amelia's Project made a donation in August to the Australian organisation doing exactly the same thing, Brashat........



OK...I was asked to share re: research onversation I had with Brad Margus founder of A-TCP from this wknd @ Disney.
The "hope", & cure we all want for our A-T kids is stem cell research. Replacing the dead/dying brain cells with fresh new ones! Unfortunately, this is very expensive and it is currently unavailable for our A-T kids. It is still being tested on lab rats and some bigger more world renowned diseases such as Alzheimer's and Parkinson's. It does seem promising, but when it will actually be available for our A-T children is an entirely different story. From what I gathered, he did not know.
Another "hope" is Deep Brain Stimulation(DBS) currently being used in Parkinson's patients and other rare movement disorders. This is currently available, but at a costly price and has not been tested on A-T patients. DBS has been proven effective in Parkinson's to control tremors and steady gait.
There is also a new drug that is ready to be tested on humans. Not sure if the control group will be A-T or Freidrich's Ataxia, but the results will be the same none-the-less. This drug will prolong life, not cure A-T. According to Mr. Margus and his two sons, they would rather have "quality of life", not a longer more debilitating one. Since each case of A-T is unique to the child, perhaps the drug could affect A-T children differently, especially if given at a young age. The younger children could benefit greater and their results better. (He did not tell me the name of the drug.)
Also, Mr. Margus is a firm believer in exercise and nutrition. As am I. Libby has a G-Tube because Hopkins recommended it. Libby had no weight gain for years. Mr. Margus says malnourishment seems to be a huge problem for children with A-T. Not because parents don't feed their children, but because the children are too fatigued to eat and under consume, plus kids are constantly in motion due to the A-T. He believes children/young adults with A-T should have extra supplementation daily whether via GT or by mouth. The more nourishment, the more energy and functioning they will exude. The more their bodies move, the better! Most A-T children will eventually require a GT anyway so why not start with one early and give them extra nourishment. This will help keep them functioning at their optimal level. I couldn't agree more! At first I was devastated to learn Libby needed a GT. My perception of a GT was poor quality of life, but I quickly learned that it actually increased it.
He also said the best type of therapy for A-T children is aquatic therapy. A-T children do so much better in water! I know Libby sure loves the water and does very well in it! Something interesting he mentioned was that he is currently working with a group of engineers to create an exoskeleton so that the A-T children are able to walk like you and I. Very futuristic! I guess the military is currently using an exoskeleton for the marines so that a marine can walk across a desert, carry up to 300lbs and not even realize it! Very cool!
Mr. Margus also discussed a very "risky" surgery that involves removing the atrophying cerebellum. Some neuroscientist believe that if you can remove the part of the cerebellum that has begun to atrophy, then it will cease. No more damage can be done. It's sounded like damage control to me, but again brain surgery...very risky and no studies have been done. He wasn't too keen on this, but it is being discussed. Better to discuss than not to discuss I guess. This is a very new topic and no action taken on this.
Also, Mr. Margus and I discussed the fact that Libby takes Artane. It's a neurological drug used in Parkinson's patients, and I can tell you that it really does help her. She would not function without it. He says he has heard this in many of A-T kids. He has also heard that the side effects has caused many parents to stop using it. Each a-T child/young adult is unique. I'm for whatever works with the individual. I just thought I would mention it in case you want to talk with your neurologist about it.
I hope this has helped offer some insight for those of you that were not able to attend

Super excited about 2012

In the past few months I have been feeling "lost".
Everyone knew it would happen.
So much planning and effort went into Disneyland and then it was ...... over.

Disneyland was to help create Amelia's "amazing" life, but it was also to keep me busy.

The first year of a terminal diagnosis is difficult, but when it is directed at your own child, the protective feelings go into overdrive.

The research, the nurturing and the feeling of hope will always still be there.
But the business side of Amelia's Project has run it's course.
Everyone around me began it and then I jumped on the band wagon.

Now I do not feel like business.

After 6 months of watching more decline in Amelia, I need something else to keep me going.

Everyone recently has been shocked by Amelia's decline.
In the last few months it has been rapid.

I live it.

EVERYDAY.

Everyone knows the responsibilty I feel.
I have someones life in "my hands".
I need to make it amazing.

But I need to make ME feel it.
Make ME positive.

So I have been searching for .....something.
Something to keep me positive and ..... going.

Today....it happened.

I have my first Amelia's Project Committee meeting this week.
I thought it was a goal within the project ...... but it is not that at all.

I need to make changes to ME.
Change my thinking and the way I function everyday.

Ever heard the saying "Happy mum, happy house" ??

Well I need to make MAJOR changes to keep this house functioning at an optimum level.

I have survived the first year of Amelia's diagnosis of A-T.
Now I need to survive the following year.
A year where Tom is not my survival technique.

Tom leaves for school this year.

No Disneyland, no Tom.

I need to think of my plan for 2012.
And it is very simple.

ROUTINE.

I have no routine.

I do not know how to sit and relax.
I just clean and tidy ALL day.
And I constantly "assess" everything.

Doesn't every any mum ???!!!

So......... in the next few days I am going to make a timetable.

What I do Monday, Tuesday, Wednesday etc.

I need to allocate "rest" time.
I will try to teach myself how to "wind down".
Cleaning and tidying will stop at a certain time and "other" things will happen.

But also very recent in my mind is two very paramount conversations I had in Queensland.
One person I had not seen for 24 years.

Comments that I will keep with me forever.

Tiasha and Annelise......

Your thoughts will stay with me forever.....

Thank you.

Everyone has their own journey.
Everyone has their own pathway.

Your sentences and "revealing" will stay with me forever.

If you are not happy, search for an answer.
It will come to you.
Soul search and keep soul searching......forever.

Now to plan Tom and Amelia's 2012.

Life is not easy but it is EASIER when you are content.....

It is your life.......so be happy with how you are living it.

I am definately trying my best everyday.
I know that I have a lot of support.
I have a lot of friends.
But when it comes to the bare minimum.....
It is ME.

ONLY ME.

This is my life and I am going to make it the best that it can be.
Amelia, Tom and Scott are joining me no matter what..........

xxx