The purpose of this website is to raise awareness and funds to support children and families affected by Alpers Syndrome. On 6 and 7 September we will host our third annual 'Tour for Alpers' fundraiser ride.
Hugh is an awesome 5 year old kid. Hugh’s name means bright mind and spirit. He is every bit this and more. Hugh has shown us what resilience, courage, strength of spirit, hope and humour really are. Hugh was an eight month old baby – sitting up, laughing, learning to crawl, and actively interested in his world when on Christmas night his left arm/shoulder started to shoot out from his body like he had had a fright. However this 'jerking' movement continued. It continued for two weeks. It was a form of seizure called EPC (epilepsia partialis continua). It felt like every drug known to mankind was put into his little veins and nothing worked. How in this day and age we could feel like our baby was languishing in a hospital bed (despite best medical efforts) with nothing to treat this form of seizure, was beyond belief. We were to discover in time that EPC creates uncontrolled movement in a focalised area of the body – moving from one area to another with each subsequent episode. It is very difficult to control even with medicine and can last hours, days, weeks, months.
Unfortunately EPC wasn’t the worst of it. You know that conversation that you don’t ever want to have with a Doctor about your child? We had that conversation. Hugh has Alpers Syndrome. Simply put, a genetic disorder of the polg gene. Degenerative and life limiting. Symptoms of Alpers include EPC, organ failure, strokes, hypotonia (low muscle tone) – leading to quadriplegia, spasticity, progressive dementia, blindness and deafness. There is no cure and no way to impede the progression. All I could stammer in that moment was "life limiting"?? How long is life limiting? Well, the answer to that was "most children don't make it past the first decade".
When Hugh was 18 months old he went into liver failure, at which time he was given 2 weeks to 2 – 6 months to live. Even through this time when he was so sick he still was playing cheeky games, making ‘surprise tickle attacks’ on willing participants and fighting the increasing floppiness in his body. In the following month he had two metabolic strokes. This was when so much of our beautiful little boy disappeared. He was completely vegetative. He could hear but couldn’t see, and his little body was wracked with the most unimaginably cruel seizures where he was at constant risk of drowning in secretions. Day and night. We begged him to remember to breathe. To live.
Like any parent completely in love with their child, we would do anything. Go anywhere. Sacrifice anything. Whatever it takes. However, at this point there is no cure and given its rare nature there is little research. However there is hope. There is always hope. Hugh is surrounded with an incredible network of friends and family and together we do lots of loving, lots of praying and lots of hoping! Slowly Hugh has defied odds. Incredibly he is regaining some of what he lost. He has quadriplegia but he is moving again, learning to use his arms, holding his head up and he stands in a standing frame. He has perfect vision. He is turning his head to look at/follow people, laughing at peoples misfortunes, (I’m serious! If someone says stubs their toe etc you can guarantee Mr Hugh will think its hilarious), and following along with stories. He makes an awesome frog and pig noise! He says ‘mamma’ and ‘hug’. His favourite thing is his drum and he will bang it with passion and purpose! He has an infectious, ready smile. Hugh’s bright mind and spirit is very evident. He is a beautiful gift. An amazing example of courage, strength and determination. Hugh’s story isn’t finished. This is the next part of the journey.
The project aims to do the following:
Thank you for being interested and coming along on the ride. Let’s find a CURE!!! All donations are tax deductable and we will keep you up to date through social media and the upcoming website.
Much love Ali x
We are excited to announce that on the 18th August 2014, Hughie.org.au made a contribution of $20,000 to Professor David Thorburn. Professor Thorburn is a geneticist from the Murdoch Children's Research Institute with over 25 years experience. The following is a brief synopsis of what this particular research hopes to achieve.
"Alpers syndrome and other mitochondrial diseases are inherited problems that interfere with efficient conversion of the energy in food into energy that our body can use. My lab in Melbourne has acted as the Australasian referral centre for diagnosis of childhood mitochondrial diseases for over 2 decades. We have diagnosed over 500 children with these disorders and identified the genetic basis in about half of these patients in a total of more than 50 different genes. New advances in genetic technology mean that it is now much easier to achieve a genetic diagnosis and end the diagnostic odyssey that many families suffer. While we can treat some of the symptoms of these disorders, our ability to provide long-lasting treatments or cure remains poor. We have therefore transferred much of our research effort from diagnostic studies into developing a deeper understanding of disease mechanisms and ultimately to improving treatment options. To achieve this we have generated two mouse models of mitochondrial disease, one of which has neurodegenerative symptoms that are similar to Alpers syndrome and the related condition Leigh syndrome. This project aims to determine whether two potential drug treatments for mitochondrial disease are effective in this mouse model at delaying the progression of neurological disease."
Professor David Thorburn
For more information on Prof David Thorburn and Dr Sue's work please visit the Australian Mitochondrial Disease Foundation website.
It is with extreme gratitude that we are delighted to announce that, thanks to your generosity, we have been able to raise over $40,000 so far.
On the 31st of May 2014 we had the opportunity to meet Professor Carolyn Sue at the Australian Mitochondrial Disease Foundation Brisbane Information Day and present her with a cheque for $20,000.
Hearing Dr Sue's expectations for the next stage of her research, which includes developing and using stem cells, with the goal of facilitating treatments for sufferers of Alpers and other mitochondrial diseases was truly inspiring and we are honoured to be able to fund this next stage of her research.
The remaining $20,000 will be donated next week with details to follow shortly.
This is more than we ever could have hoped for in our first year and our appreciation to all of those who donated is endless.
The annual Tour for Alpers fundraising ride is set to commence in September this year to raise awareness and funds for research.
To raise funds to support children and families affected by Alpers Syndrome and ultimately work towards a cure, Paul Mellers, Hugh’s uncle set out on the mammoth two-day ride from Brisbane to Byron Bay and back with a team of skilled cyclists.
The Tour for Alpers Fund Raiser happens under the auspice of Australian Care and Trauma Services Incorporated (ACTS Inc.) – a registered charity with the legal ability (DGR status) to provide Tax Deductible Receipts for all donations over $2.00.
Follow the progress via the Facebook page
If you wish to make a direct deposit, please also email email@example.com with your surname, amount and address to receive your tax deductible receipt.
Please make your donation to BSB 034 077 Account: 189396. Identify your donation as 'Hughie'.
2014/2015 Entertainment Books now available --- 20% of every membership sold contributes to Hughie. Help us achieve our goal by sharing this link with your Friends and Family - thanks for your support!