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.

Sunday, February 6, 2011

One step at a time

Tomorrow is 8 weeks since Artemissia passed away.
It seems to get harder and harder, the pain does not go away.
It never will. I miss her with all my heart.

Artemissia taught us unconditional love, the most valuable lesson of all.

I have learnt much through this terrifying experience which, in hindsight feels like we had been treading water in a raging flood, holding Artemissia above our heads, not for a few hours or days, but for 2 years, constantly being smashed by the waves. Holding on, praying in vain hope for help, help that always was just out of reach.
Repeatedly destroying our hopes.

There has to a better way to help victims and families such as ours.
More understanding of the situation's needs and dangers is just the beggining.
If we do not learn from the lessons we will never really evolve as a society.
This will happen to families again and again.
If only one child or one family is saved from being cast into the raging flood then our experience will not be lost on the rocks.

I am now moving forward one step at a time.
My aim is to create a foundation, a legacy in honour of the lives of Artemissia and the countless children lost to these rare diseases, in particular Sandhoff and Tay-Sachs.
But "All" children are equally important, therefore initially I will do what I can to provide any help, whether it be information, or support, eventually the Artemissia Foundation will be able to provide funding assistance to aid families and research.

We must realise that rare diseases can affect any family at any time. It is
not just “something terrible that happens to other people”.
It is a very cruel reality that can happen to anyone, either when having a child or in the course of one’s own life.

Whose child or family will be next?
The prevalence of rare diseases is on the rise.
If we don't act now then we have failed all that have suffered in the past and those yet to suffer in the future.


We must work to help implement better management systems within the medical and government departments that are entrusted with the responsibility for the care and support of victims and their families.

One step at a time.

My first step is to try to create a website that provides useful links to affected families, links to research, support, funding, anything that may help.
I have started building a site, so please, if anyone would like to offer any information, advice or direction, email me at info@frangipanisrus.com.au

Artemissia gave us that HOPE and we must never forget that.

Every day is a new beginning