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.

Wednesday, October 27, 2010

Good Girl Artemissia

Artemissia is showing more signs of awareness and movement as the Phenobarbitone withdrawal continues.
So far we have had no signs of seizures or discomfort due to the decrease in her Pheno dose.
The daily dose is as of last monday, the 25th of October is 16ml, down from 36ml daily.
She is appearing to be slowly shaking the hypnotic effects of the Pheno, fingers, hands, arms, legs, feet and toes are slowly moving with more intent, showing much more resistance through physio and, she is turning her head a little.
Her eyes are more focused and "knowing". She is so brave, it makes us so proud to be her parents.

This week we were contacted by a family from Bulgaria, with 18 month old baby Luiza also diagnosed a few days ago with Sandhoff, every time I hear of another my hearts breaks again.

Artemissia now has found others like her, suffering Sandhoff and Tay-Sachs, all wonderful, brave children.
Dakota, Kaydence, Steven and Thomas in the USA, Camille in Belgium, Hugo and Ayah in Sydney, Sophia in Saudi Arabia, so, so many more out there.

Being in their presence is amazing, their silent auras full of love and hope.
WHY? WHY? WHY? All children are so special, WHY must they suffer?
They are here to help others, stop the suffering of so many generations to come....

Truly Blessed and Guided by Angels

Monday, October 18, 2010

Big hand, little hand, just amazing to hold

Awareness and responsiveness are both slowly increasing as the Phenobarnitone is slowly withdrawn, and, she is doing perfectly well.
After the first 3 weeks of withdrawal Artemissia is as of today at 60% of the daily dosage she was on. She has had no discomfort or seizure activity, that is brilliant.

Last week she had her upper back molars and her top left eye tooth finally cutting their way through, this brought on some high temperatures and increased secretions. Because she can't speak to tell us how she feels, identifying things is very difficult but we try to make sure that we look at everything from every angle, not forgetting that she is still a growing baby going through all the normal physical changes, apart from her diagnosed condition. She does not masticate therefore the teeth are much slower to break skin. So many facets, all equally important. Constant monitoring, observation and recording allows me to distill all the facts properly and safely, we really "keep a finger on her pulse". It is our labour of love.

Most may think we have drawn the "short straw" with this situation our family is in but we stay strong, Artemissia is our baby and our responsibility, we are her parents and would have it no other way, it is our purpose.

It is late now and my shift here next to her is nearly over tonite, but it is so wonderful to hear her breathing calmly and deeply as she sleeps so much more peacefully than before.

Wednesday, October 6, 2010

I love this, I'm getting stronger.

Week 2 of the Phenobarbitone withdrawal, we are removing 10% of the original daily dose each week, monitoring and if all goes well then we continue.
Artemissia is appearing a fraction more aware, present and responsive.
It's only early days yet but Artemissia will show us.
We have to agree that Artemissia is improving and in much better condition than she was prior to the treatment.
Who says that Medicine and Love don't mix?

I'm trying hard

Mum giving me a workout