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.

Monday, September 27, 2010

Team A Patience and persistance promises to bring Artemissia back



Artemissia is bravely fighting her way back and the most elementary things are going to be the most important for her future development.
Daily Dummy training is slowly but surely getting her tongue moving. She is going to need it to speak and to swallow.
Once she is able to swallow Artemissia will be able to clear her own throat from the choking secretions and hopefully get food down.
That will eliminate the need for the nasal tube we now use to feed, medicate and hydrate her.
That is what we are aiming for and we know that we can do it.

We have come a long way since we came home from hospital to spend our last days together at home.
From a daily cocktail of drugs, including; Morpheine, Midazolam, Chloral Hydrate, Clonazepam, Phenobarbitone, plus, plus.
We have been slowly withdrawing drugs as they become unnecessary, especially as the Pyrimethamine appears to be stopping the disease from progressing and allowing Artemissia's body to heal.
Now apart from the Pyrimethamine treatment she is only on Phenobarbitone the last anticonvulsant.
Well today we have begun the withdrawal process of this drug that has kept her in a state of permanent hypnosis, depressed senses, decreased motor activity, Central Nervous System and Respiratory Depression, Cardiac arrest(to name a few of the side effects, even death).
We have faith that this will go relatively smoothly, by christmas the withdrawal will be finished and Artemissia will be able to come out of the drug induced shell she has been living in.
Her developmental milestones will become much more achievable.

We are coming to get you out!

Wednesday, September 8, 2010

A bit of an ode to all mums, dads and nanas

Against all odds Artemissia will be 3 years old on sunday. Her strength, love and trust in us has kept her here. She knows that at least one of us is always watching over her and tending to ever need. Without the Pyrimethamine Artemissia would not be here, but, even with it she would not be here now if it wasn't combined with the love, care and dedication of Team A, mum, dad and nana that makes her treatment complete, she knows, therefore she fights. Stopping the progress of the disease is one thing, but, keeping her alive from minute to minute because of the damage caused up till we could stop it is major. The demylination caused major seizures that mostly destroyed her central nervous system, affected her spinal cord, and most major organs. The lungs are the biggest problem as we have to help keep her clear of the mucous and phlegm build ups that threaten to choke her. One of us, mum, nana or I have always been by Artemissia's side, 24 hours a day. We are exhausted but thankful that our prayers are heard and that ever so slowly Artemissia is improving.
Sleep deprivation took it's toll a long time ago. We are physically, mentally and emotionally drained, even so the joy we feel to see her sleeping peacefully between suctions, her contentment when being cuddled, the look of peace in her angelic face when deeply sleeping, or even her increased strength and resistance during physio, these are the greatest, proudest moments that you could ever imagine.
Hard to imagine and impossible to cope with but we do, Artemissia is our universe. We are just a mum, dad and nana not doctors or scientists. We are just normal people, but we are Artemissia's family and she our baby, so we do what we need to. We have met many wonderful people on this journey that we love immensely for their care and support, but as a dad I have to say that the efforts of caring and treating her, watching her every breath while the world sleeps, unable to see daylight, selflessly pouring their love and affection into Artemissia, this is the key to the Pyrimethamine working, she knows she has something to live for, love.