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, January 24, 2010

prayers are powerful

I pray for Artemissia to see again completely with eyes of compassion, love
and clarity. May she look upon the world with eyes of divine love.
May she speak her truth and speak eventually with words of forgiveness , joy
and unconditional love,
May she have strength to continue her long journey.

I pray for theese things daily. I send it to the universe and surrender to the outcome.
I trust what will be will be.

Well Artemissia has had a eye test last Friday and the results are amazingly positive. Her brain responded to the light that was being flashed in her eyes to test her vision.

She is also using her voice box and trying to communicate making different noises. She is loud and strong and just beautiful really.

God bless out little angel. Thankyou for this beautiful gift. Our daughter, Artemissia.

Wednesday, January 13, 2010

message from mum

HOPE: It is an important word. It is a word filled with optimisim, confidence, inspiration, new beginnings, opportunity's, something to strive towards.
HOPE: is an important word in Artemissia's transistion from healing to becoming whole again. Hope is what we hold onto in our darkest and brightest moments.

Tuesday, January 12, 2010

Pyrimethamine Phase 1 trials overseas

Pyrimethamine

Tay-Sachs disease and Sandhoff diseases are caused by deficiency of an enzyme called β-hexosaminidase A, or Hex A in short. This enzyme is located in a particular cellular component, called lysosomes, inside the brain cells. The reason that Hex A of patients with Adult Tay-Sachs disease or Sandhoff disease is deficient is because this enzyme had gone through mutation, resulting in it not working very well. In healthy people, Hex A efficiently breaks down GM2-ganglioside, which is a by-product from cells of our body. However, patients with Adult Tay-Sachs disease or Sandhoff disease cannot efficiently break down GM2-ganglioside in the body. Therefore, these patients have high levels of this by-product in the brain cells, which causes the brain to be unable to function normally.

There is a drug called Pyrimethamine. This drug is used by doctors to treat specific types of infections called malaria and toxoplasmosis. Our laboratory test tube studies have shown that Pyrimethamine can help the Hex A enzyme to function in a normal manner. If Hex A can function normally in presence of Pyrimethamine, this drug should be able restore the brain malfunction of these patients since Hex A can now efficiently break down GM2-ganglioside with Pyrimethamine treatment.

Although results from laboratory test tube studies are promising and Pyrimethamine should theoretically restore brain function of these patients, we do not know if Pyrimethamine is safe or if it would actually work in patients. The current studies overseas are the first study (a Phase I study) of testing Pyrimethamine to treat Adult Tay-Sachs and Sandhoff diseases. The studies stared in september 2009 and are being conducted at Toronto, Clevelland and New York. Universities. The objective of this first study is to see if Pyrimethamine is safe in these patients and to see if it can restore the brain function of these patients.

We are always mindful of all Artemissia's medication regime and must look at so many areas in her care, in this case it is drug interactions, conflicts and side effects.
One of the anti-convulsants can work against the Pyrimethamine and increase floppiness, another anti-convulsant brings on secretions,or, because the Pyrimethamine is an Inhibitor, in that more of it will not make it work better, it will in fact work less. We learn from Artemissia with close monitoring and care. We learn from the works of Professor Mahuran and his colleagues. It really is an amazing world that we live in.

One of Artemissia's two mutations has in lab tests proved to work and increase Hex A activity. Having the enzyme levels tested accurately should confirm that the improvements we are seeing are the results of Hex A levels rising slowly and possibly this is allowing her central nervous system to repair itself, not degenerate further. Joining with physio, massage and stimultory exercises every day we also hope to be able to increase development thus further restore brain and body functionality. What a journey.

Enzyme tests a first in Australia

Good news as we will soon be able to have accurate readings of Artemissia's Hex A enzyme activity. Dr. Michael Fietz confirmed that Adelaide Women's and Children's Hospital Genetic Laboratory have consented to conduct the testing as it is the major indication of any treatment's success. Professors spearheading Pyrimethamine research from Toronto University and The Hospital for Sick Kids in Toronto have offered to supply the John Hopwood Laboratory with enzymes to enable them to test accurately. To date, the testing conducted in here has not been accurate as other elements such as Hex S enzyme have been hydrolysed in the process, simply put, the final reading is inaccurate. It was used as a ballpark figure for diagnosis.
Blood sample freshness and huge travel costs make getting samples to Canada impossible. Having a proper reading will help us see what her levels actually are and understand how to better manage her treatment, in essence it could be the difference between life and other...

Thankfully Professor Hopwood heading Adelaide and Professor Mahuran heading Toronto have worked together in the past and are good friends.
Thanks to these gentlemen and their teams we have a chance.
Their life missions are simply dedicated to their work finding cures for these, up until now, relentless diseases. Professor Mahuran was on DR. Sandhoff's team when the disease was first found in 1968. Amazing.
It is very emotional for us to have these wonderful people helping us.
Thank You.

Good news, some sleep at last

Finally after a year we have a respite nurse provided for 3 nights per week, from 10pm till 6am. We can now sleep in peace (in the next room) while nurse Lyn observes and cares for Artemissia. Lyn is a wonderful person, and, like all of us has fallen in love with Artemissia, establishing another bond that lets baby from within her shell feel calm, safe and nurtured so she can heal. Thank You so much DADHC Support Team

Keeping Artemissia's airways clear

The Nasogastric tube is for all her food, water and medications. That is how everything is given.
Artemissia cannot swallow properly due to the disease and can aspirate secretions back into her lungs causing infection, this is what has always ended the battle for victims of these diseases.
We constantly have to suction mouth and nose to clear the build up of secretions from her lungs. Regular chest patting dislodges mucus from her lung walls so we can then clear it with suctioning and her "new" stronger cough.
It hurts my heart so much to have to suction so much, watching our baby fighting the constant flow of secretions, she is next to me now and at last breathing easily.
Suctioning can last for 3-4 hours at a time, and averages 7-8 hours intermittently through the day. There is no rhyme or reason. It is what we need to do to keep her alive as she slowly heals. One of her daily anti-seizure medications actually helps increase the secretions, but without it, seizures and convulsions. The other anti-seizure medication increases her floppiness but without that one she has clusters of seizures. We have managed to reduce that one by 2ml per day through our monitoring and recording. Things are improving slowly but surely.

Technically speaking; in these disorders abnormalities in oral-motor function and coordination result in swallowing difficulties, resulting in choking and aspiration, frequently exacerbated as a result of poor cognitive function.
Inadequate control of respiratory muscles due to enervation or hypotonia can impair the normal cough reflex and, as a result, interfere with the ability to clear aspirated material and pulmonary secretions from the airways.
Seizures carry a high risk for aspiration of saliva and gastric contents. Because saliva and gastric contents contain bacteria, aspiration introduces microorganisms into normally sterile airways. Ineffective secretion clearance associated with recurrent aspiration, places patients with pulmonary complications of leukodystrophy at high risk for hosting a vicious cycle of mucus obstruction, infection, and progressive, irreversible lung damage.
Retained secretions provide a cultural medium for bacterial pathogens. Consequent infections produce still more mucus, initiating a vicious cycle of mucus obstruction, recurrent bouts with pneumonia, bacterial colonization, progressive pulmonary compromise and, finally, respiratory failure.

This all may seem cold but we have to understand as much as possible about Artemissia's condition in order to be able to help her properly

We cannot let this happen to our baby, she is trying so hard to be with us, I am just a dad, but will do everything there is possible to help her in this fight.
There is Hope, Artemissia has already proved this. I will never give up!

Friday, January 8, 2010

Lots of Love and Cuddles


Terry and Julia often drive all the way from Jimboomba for the cuddles.
Their support and help has been a blessing.
It really is amazing how many wonderful people are out there and Artemissia inspires many.

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Xmas Day 2009

Artemissia looking good in her christmas dress.

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Lots of mates visited and prezzies topped her day.

Thank you everyone.

New Years Day 2010

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Trying very hard to show us her moves.

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One very determined little lady.

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Mum and aunty Michelle putting Artemissia

through the daily workout.

The A-Team in action.

The inevitable suction to clear her airways.

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Wednesday, January 6, 2010

message from mum

Sharing a moment of cuddles with Artemissia is the nicest feeling ever.
She seems to be looking at me and she knows that I surround her , holding her wrapped up safely in my arms of motherly love.