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, July 27, 2011

Artemissia like every other Australian still counts!

Artemissia helping dad get ready to go out and gather support for the proposed new National Disability Insurance Scheme. When the mail arrived she was so excited and couldn't wait to open the bag. It was like a treasure chest, postcards, stickers and flyers. Artemissia has friends that are willing to help us collect signatures, she like every other Australian still counts!

The NDIS will make it easier for disabled, aged, palliative and sick people to access essential care, support, equipment, training and much needed respite.
The Northern Rivers community has been crying out for help for many years and now at last a proposal that will help so many residents that have been, and, are still suffering in silent anguish.
The Health system has for too long needed change to support all people regardless of their disabilities, and their families that provide care 24/7. Artemissia was palliative, in an ICU state, sent home to die. We fought Artemissia's disease ourselves with little to no assistance for 2 years and nearly had it beat, but we still "slipped through the cracks". We had no respite for the first 12 months, even then it was unstable, access to equipment and services were heavily bound by departmental red tape. Initially going from hospital to hospital (even Brisbane) on my own steam for syringes, lifesaving suction machines, hoses and tubes etc. Our life and home were far from everyday Australia, a nightmare. Our nightmare has ended but the pain from the experience has left us scarred forever.

The proposed NDIS would fund long-term, high-quality care and support for about 360,000 Australians with disabilities. The Northern Rivers has significant holes in respite services designed to provide back-up to people – usually family members – who often sacrifice their own quality of life to make the most of someone else’s.
We have a voice and by using it we can make sure the Federal Government accepts the recommendations of the Productivity Commission to introduce the NDIS.

As part of the campaign there will be 866 national DisabiliTEAs, morning tea parties on August 2, to promote the scheme. In the Northern Rivers there will be one in Alstonville at 253 Wardell Road held by Brione Steele. Another held by Tweed Valley Respite Services at Dungay. Petition forms will also be located at the Tweed Palliative Support op-shop in Murwillumbah, Tom's Pies in Mullumbimby, Valley Way Cafe across from the Murwillumbah railway station.

The people of Australia and the Northern Rivers, have the power and numbers to help push the scheme to reality.

Who will it be next? we didn't have a clue what we were going to go through.

Please support the campaign, all you need to do is voice your support by calling 02 9256 3106 or online at http://www.everyaustraliancounts.com.au/.

Wednesday, July 13, 2011

Nothing To Lose And Everything To Gain

There is a drug called Pyrimethamine. This drug is used by doctors to treat specific types of infections called malaria and toxoplasmosis in children and babies. 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.



Doctors afraid of litigation will not tell us about this because it is not FDA approved, like anything that is being trialed will not be FDA approved for 10-20 years, by then we would all have watched our children die, horrible painful deaths, while we stand by and hold their hands……



If anything can make a difference to these children of ours then it is worth everything.



I have attached the original Pyrimethamine treatment information for who ever is interested in trying to help their child if possible, (PYR-EET-07).


There are other attachments are from the World Lysosomal Disease Conference held last year in Miami, they are findings on the adult trials. I can send this on request.


They are finding that Pyrimethamine is also working on some of the mutations that they thought it would not work on. And although targeted at adults, it worked for Artemissia.


Professor Don Mahuran based at the University of Toronto and The Hospital for Sick Kids, Toronto and Professor Kolodny from New York University are two of the leading researchers on Pyrimethamine, and very approachable. NTSAD has all their details. Professor Barbara Shapiro is from the University of Cleveland and Case Western Hospital. She is a really lovely person and linked to all the others above. The Pyrimethamine research is on hold due to lack of funds.


Artemissia was born on the 12th September 2007.


We came home to wait out the end in Palliative Care just before christmas 2009, she was totally blind, deaf, mute and paralyzed, with a massive cocktail of medications that included Morpheine 24 hr, extra Morpheine, back up anti-convulsants etc. etc.


With adverse events daily, we were using a lot of medications.


Because of the late diagnosis here Artemissia's condition had totally destroyed her Central Nervous System totally, Artemissia was essentially gone.



In February 2009 Artemissia was close to dying, we began the Pyr treatment Artemissia was blind, totally deaf, totally paralyzed and on continual morpheine doses. We had no choice but to try or Artemissia would not have made it through the first half of 2009.



We had to wait 9 months for the mutation test results but Artemissia would not have survived, we put our faith in god and did the only thing we could, we started Pyr, and it worked. The mutation test came back and 1 of her 2 mutations was known to work with Pyrimethamine. It turned out that our faith and prayers were answered.



We started her on Pyrimethamine on the 6th of February 2009 and within 4 weeks we were having much fewer adverse effects, seizures or convulsions.


By July 2009 we had removed the daily Morpheine from the cocktail 2ml per week; we used none from then.


(I can send the spreadsheet showing the summary of those early days, if you look at it you see all the columns showing, medications, extra-meds, pain, and seizures, as the treatment took effect you can see those columns clearing with time, also I can send Artemissia’s first Daily Plan so you can see the cocktail of drugs in the beginning).


Artemissia was still on her daily medication regime for seizures, occasional anti-biotic for infections, but essentially much, much more stable.


By mid 2010 we had no more need for the Clonazepam (Rivotril), and by December 2010 the Phenobarbitone withdrawal was nearly complete.


With the Pyrimethamine stopping the progress of the disease we then had the task of restoring her Central Nervous System and managing her Respiratory system. The CNS was coming back as Neuronal Regeneration was occurring because as the disease’s progress halted, the body was repairing the damage. I studied what I could find on Neuroplasticity and applied some elementary exercises which helped begin motor skill re-development.



We were over the moon; the doctors here could see the improvements and were happy.


Artemissia could hear loud to medium noises, her eyes shone, no longer rolling upwards, she was so much more aware and she responded to light and colours more. The Pyr treatment and physio regime had worked wonders against the paralysis, her fingers no longer clenched unless she was squeezing our fingers; “foot drop” was easier to manage with feet looser and not so stiff.


The foot tremors from Clonus had nearly all gone, and she was making sounds like trying to communicate. Artemissia responded to love/cuddles with beautiful sighs. Even the Cherry Red spot in the macular had diminished significantly.



The secretions were easier to manage but build up of mucous in the chest was still the major issue and we kept her in the centre of our house with one of us by her side 24/7.


We rotated the shifts and she had a very busy schedule each day.


I have attached a day sheet so you can see how an average day was managed.


If we had known earlier about Pyr, Artemissia would not have so much damage to her Respiratory and Central Nervous Systems.



"DARAPRIM" is the MIMS name of the tablet that contains the PYR; we looked into the MIMS and saw the adverse reactions list, dosing recommendations etc.


Please remember that every person will be different in always, from the mutation itself to the current condition of each individual.


You can download a Daraprim fact sheet online.


I can also provide a copy of a day sheet showing how we gave her the PYR with Folic acid twice daily. PYR reacts with one of our anti-seizure meds, the Phenobarbitone, but we managed that by spreading the doses of Phenobarbitone and Pyrimethamine as far apart as possible from each other over the 24 hour daily dosing period. The PYR dose we have found should not exceed a rate of 1mg, per kilogram of body weight, per day, if that happens it will not work.


Splitting the dose works so much better than single daily dose, it stops any vomitting and works better because it has a working life of 4-5 hrs, after that it's not working for the rest of the day. So splitting it in half and giving twice daily gives us 2 peaks a day.


It must be given with Folic acid or Folinic acid which will be on the instructions. Artemissia reacted adversely to Folinic, so Folic works for her.


Each person is different but the basics are there, you just have to tweak things to suit each individual.


We always made sure that she had been back on her milk for at least an hour prior to giving PYR and this was given with lots of water, perfectly smooth on her tummy.



The PYR was a miracle to us, Professor Mahuran and his colleagues are legends. In our case he did not think it would work at all, and we didn't have Artemissia's mutations which were months away.


He had advised us, as doctors do, against using the PYR prior to getting our mutations analyzed, but we had run out of time, every day the damage continued, our gut said go, so we did, very carefully monitoring everything with the Day Sheets.



Unfortunately Artemissia’s Respiratory condition had progressed too far before we had a diagnosis and could find out about the Pyr ourselves, that Bronchial damage was what eventually led to our loss of Artemissia.



The Pyr is the most promising, least invasive, and it can keep children from deteriorating further until other treatment options can be further researched.



The more recent papers from studies in New York, Toronto and Tel Aviv also highlighted the mutations originally believed not to respond to Pyr had begun responding to the Pyr after continual treatment.



Nothing to lose and everything to gain!