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, November 24, 2010


Dear Aunty Julia, Honey and Poppy and I have been having a little birthday party for you.
Dad got us all some of his frangipani flowers so we could all look beautiful for you.
I fell asleep because it was such a big party so Honey and Poppy looked over me like Angels. Thank you so much for sending them to protect me.
They are both doing that good a job that I am now down to only 2ml in the morning and 2ml in the evening(of the Phenobarbitone stuff), Howzat!

Honey just told me that Uncle Terry is taking you away on a fishing honeymoon, you are so lucky, he is an angel just like you. Please relax, have fun and catch lotsa fish. Do not worry about me, Poppy and Honey will look after me.

See how pretty the frangipanis are, we got the picture you sent of yours, wwwowww!
Happy thanksgiving, Happy Birthday for saturday and Happy fishing, just be as happy as I am. We sent you heaps of love and glitter. then I had to rest, big, big day.
Thank You for all that you have done you are both AMAZING.
Lotsa hugs and kisses to you both, my special Guardian Angels, XXXOoOoXxXxXX

Wednesday, November 10, 2010

Phenobarbitone withdrawal progresses well

It's been a hard day and Artemissia fell asleep with her boots on. The Phenobarbitone is now down to 4ml morning and 4ml in the evening, from the original daily doses of 18ml morning and 18ml in the evening. No adverse reactions or even any signs of serious withdrawal symptoms. That is so good, we are so very proud of our baby aussie battler.

Artemissia is responding to tickling with general limb and torso movement increasing, slowly but surely.

Piano lessons are still on the daily routine. Move over Beethoven, Artemissia is here.

Nebulising and Chest Patting to help move the mucous up from her lungs is done several times a day, keeps her airways clear and oxygen levels up.

The sleeping princess is just beautiful.

Honey and Dolly rocking in Artemissia's arms.