Our Journey

I am Alex, the father of a beautiful baby daughter with Sandhoff Disease, a rare form of Lysosomal storage disease, similar to the Leukodystrophy in Lorenzo's Oil (the movie). Artemissia was the only known case in Australia. At 6 months old the first signs of this aggressive disease began to emerge. We went to the doctors thinking it was a reaction to immunisation but no-one knew. We waited to see a neurologist but the disease was advancing. One day before her 1st birthday she went floppy. Our nightmare had begun, and even though Artemissia passed away more than 2 years later on the 13th of December 2010, the nightmare continues today. A family no more. Here you see a father's journal, emotions and thoughts. barely a glimpse of the reality, but enough.

Thursday, December 31, 2009

New Year's Eve 2010

It is New Year's Eve and we are alone, I am sitting next to Artemissia, finally she is sleeping on her side, little fingers clasped around her toy possum's tail. It has been a hard few hours for her with continual suctioning to keep her airway clear. Rest now for the next round.
How strong is her will to live! She has fought for over a year now and is as determined as ever.
Her little face now looks so peaceful, eyes closed and even snoring. More than enough to bring a smile to my heart.
Kelly is sleeping now to, as it will be her shift from 2am till morning. That is how it is, one of us is always by her side 24/7, it does not matter what the world does, it is what we must do. It will be so good to see Colleen, Artemissia's nana when she gets back tomorrow from her christmas break. (Time for a nappy change).
I am so proud of Kelly and Colleen, their hard work and dedication makes me very, very proud.
It has been a long, hard but very rewarding year. We still have our baby and she is fighting back. Artemissia is not only fighting for herself, she is fighting for all the others she will help as she proves the success of her treatment. It is a road none have taken before and we let her guide us, no-one in this country has had experience with this disease, so we arm ourselves with common sense and what little knowledge there is to help her.
What has been accomplished this year is fantastic considering that last christmas we were given just days to weeks for baby to live. It is a time of amazing advances in science and medicine, we could have easily let Artemissia have a "morphine end" but through careful observation, monitoring and treatment, the morphine is no longer needed.
The journey has only just begun but it is for the best cause, our baby, for we are parents.
God Bless and Thank You all for your Support, Prayers and Cares,
Happy New Year

Tuesday, December 29, 2009

Spiritual food for thought

In a moment of quiet reflection. Stop and ask yourself the question....
What is the purpose for that I am here. What is the grand purpose for my existence?
Close your eyes and you will see, the answers will come eventually.

Thankyou Artemissia for helping me find my Grand Purpose in this life.

Mum n' me

message from mum

If I was to define the word inspirational....
All I need do, is look into my daughter's eyes and to see the fight that she continues with daily to be here amongst us. She lifts us up like a breath of fresh air. I breathe her in deeply, her beauty, her fearlessness and I know that I am in the presence of a amazing human being.

Monday, December 28, 2009

message from mum

We are so blessed to have Artemissia in our lives. She sacrificed a normal life for us to remember the people that we are meant to be. That is people, with characteristics of courage, perserverance, strength, compassion, unconditional love. Unfortunatley it had to come to this, for us remember. But yet still, I am so thankful to her, for teaching us what we were meant to learn.

Saturday, December 26, 2009

Sitting up

Artemissia able to get out and about a bit more with her special pram provided by DADHC with the help of KIDS IN NEED.

Head High


This was the first day in her Monkey Stander after 7 months laying prone on a bed, Artemissia held her head up high

Little arms waving

Norther Star Article 26 Nov 2009

Finding hope for little girl

A YEAR ago she was dying, but a world-first experimental treatment has turned little Artemissia into our miracle baby.

Little miracle Artemissia.

A YEAR ago she was dying, but a world-first experimental treatment has turned little Artemissia into our miracle baby.

Artemissia had barely turned one when she was struck by a rare genetic disorder that began destroying her brain. Children with the illness, called Sandhoff disease, were not expected to live past their third birthday and nobody believed there was any hope for the little girl.

Today the disorder’s progress has been stopped and Artemissia, 2, has begun the long, slow climb back, thanks to the extraordinary efforts of her parents Alex and Kelly, her grandmother Colleen, and the help of volunteers and neighbours around their Burringbar home.

When The Northern Star first reported on Artemissia’s plight last Christmas her family had taken her home and had become experts in palliative care as they tried to make her comfortable in the days, weeks or months before the illness killed her.

But Alex, despite having no medical training, was also fast becoming one of Australia’s experts on Sandhoff disease.

Within a few months of Artemissia falling ill he had made contact with US experts who had been working on ways to fight the disease since it was discovered in 1967, and early this year found an experimental treatment for a related disease that might help his baby girl.

With nothing to lose and with the help of US experts and Australian and local doctors, Alex started Artemissia on a new drug, Pyrimethamine, in February, seven months before official US trials began.

Artemissia’s treatment goes well beyond the new drug. Alex, Kelly and Colleen work in shifts so someone is constantly monitoring and working with the child. She also receives daily physiotherapy and other treatments.

A year ago she was paralysed, blind and deaf, and needed morphine to control the pain and other heavy medications to pull her back from the brink in various emergencies.

Her medical chart tells the story. Within a few weeks of starting the new treatment the morphine she needed dropped dramatically, as did the number of emergencies.

Today Artemissia still needs around-the-clock care, but is morphine-free and has not had a medical emergency for months.

And the changes are visible elsewhere as well.

“A year ago if she squeezed your finger it was a big deal,” Alex said. Today, when she is put in a device to help her stand, she can hold her head up and brace herself with her arms. Her sight and hearing seem to be slowly returning.

“You can see the paralysis going,” Alex said. “You can see many different areas going forward. Improvements are happening, tiny as they are.”

The progress, along with advances in gene therapy, mean it is likely Artemissia may make a full recovery in a few years.

Despite her affliction, Artemissia has many more blessings than an experimental drug. Kelly said one of the most important elements of her treatment was the love given by those caring for her.

“We do what we can, but the only thing that’s important to me is we just love her. It’s that simple,” Kelly said.

That love goes beyond the family into the community.

The elderly palliative care volunteer still comes around, even though Artemissia is now officially in rehabilitation, because she adores the child.

“Everyone’s got a role to play, including Artemissia,” Kelly said. “She remembers that she’s loved and through that has chosen to stick around for as long as she wants to.”

How to help

THE broader Burringbar community is rallying to prepare a massive Australia Day fundraiser to help Artemissia’s family.

Georgina Wood, of the Burringbar District Sports Club, said the small community would host Tweed Shire’s Australia Day celebrations on January 26 and were hoping to raise money to help Artemissia and her family, as well as children’s charity Paradise Kids/Hopewell Hospice.

Lismore Northern Star

Hello

I’d like to take this opportunity to introduce myself. My wife, Kelly, and I are the parents of a terminally ill daughter, Artemissia, with a rare genetic disease called Sandoff Disease. It is a disease that on the 11th of September 2008 the first signs of this aggressive disease began to emerge. Our daughter one day before her 1st birthday went floppy. Kelly took her to the local health care centre and to a doctor and was told that they believed that she had Muscle Dystrophy. Our nightmare begun. Not understanding this prognosis we researched into the days and nights until the day the appointment we had booked to see a specialist would arrive. We felt isolated and at a loss at what to do next.

On the 14th of November 2008 Artemissia had severe life threatening seizures and we rushed her to the hospital. Because this disease is so rare and no one knew just what they were dealing with, we were shifted to three hospitals until we eventually ended up at the Mater in Brisbane. Here we spent time in intensive care and also the children’s ward of the hospital. We stayed for a month. We were told that she wouldn’t survive. We made the decision to bring her home. On the 16th of December 2008 we brought Artemissia home and started a journey of taking care of her in Palliative care 24/7 shifts around the clock, between Kelly's mother, my wife and I.

We returned home with the future uncertain, this is when I started to research into possible treatments for Sandoff disease. There was none. I discovered after endless hours a drug called Pyramethamine. Artemissia is the first infant in history to be trialled on this treatment.

It is now Christmas 2009 and we are still on this journey of running our home as a hospital with one patient. It has been an incredibly emotionally draining , but also an inspirational experience.

Artemissia’s disability is severe and her level of dependence is extremely demanding. She remains being cared for at home, round the clock with intensive care provided from her family, us. Her disease had originally left her blind, deaf and completely immobile.

Now from this treatment we have seen changes. Changes that you could only describe as a Miracle. Her hearing has returned to a moderate level and we will soon have a sight test to see how she has progressed there as well. She has been able to lift her head when she is in a stand called a monkey, where her whole body is strapped in for support and her head is able to lift up from the top of the device.

Her will to survive is one that many people are touched by immensely. To us, in addition to the treatment, and any possible future treatment, the answer is simple.

“Just love her, as that is all she requires in large unconditional doses daily and we are more than happy to provide her with that love. It’s that simple.