The purpose of this website is to raise awareness and funds to support children and families affected by Alpers Syndrome. The last year has been particularly tough for all those close to Hughie. We are approaching 12 months since his passing.
To commemorate we are starting a new journey, the Hughie300.
Hugh was an awesome 5 year old kid. Hugh’s name means bright mind and spirit. He was every bit this and more. Hugh showed 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.
Hugh had an incredible network of friends and family and together we did lots of loving, lots of praying and lots of hoping! Slowly Hugh defied the odds. Incredibly he regained some of what he lost. He had quadriplegia but was moving again, learning to use his arms, holding his head up and standing in a standing frame. With perfect vision, he could turn his head to look at/follow people, laughing at peoples misfortunes, (I’m serious! If someone stubbed their toe you can guarantee Mr Hugh would think it was hilarious), and follow along with stories. He made an awesome frog and pig noise! He would say ‘mamma’ and ‘hug’. His favourite thing was his drum and he would bang it with passion and purpose! He had an infectious, ready smile. Hugh’s bright mind and spirit was very evident.
Like any parent completely in love with their child, we would do anything. Go anywhere. Sacrifice anything. Whatever it took. Sadly, our little champion Hugh passed away in 2015. He was a beautiful gift. An amazing example of courage, strength and determination. It is in his enduring memory that we continue to hope for a cure for Alpers. Its a rare disease and, by nature, there is little research. However there is hope. There is always hope.
Through this project, we aim 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.
Much love Ali x
With the financial support from the Hughie Family Project, researchers at the Kolling Institute (University of Sydney) have established a new cell model to study the neurological problems associated with Alpers disease. We have created stem cells from the skin cells of patients with mutations in the POLG gene (referred to as induced pluripotent stem cells or iPSCs) and have been able to grow neurons from these cells for our studies. These neurons can be used to simulate what happens to brain cells in patients with Alpers syndrome. When stressed, these POLG mutant neurons are not able to produce as much energy when compared to those same types of cells that lack mutations in the POLG gene. When exposed to drugs like sodium valproate (a drug used to treat seizures that can be lethal to patients with Alpers disease), we found that the neurons with POLG mutations were unable to produce the same amounts of energy when compared to normal neurons. This may be the reason why patients with POLG mutations respond poorly to sodium valproate.
Our group would like to follow through and investigate what actually happens to the neurons when they are exposed to sodium valproate. With future funding, we will study the electrical responses of the neurons when exposed to sodium valproate. We plan to measure the electrical activity in the neurons derived from iPSCs with POLG mutations and identify substances that may be able to block the excessive electrical activity that can occur after exposure to this drug. These planned experiments will hopefully provide information about how to protect patients from the toxic effects of sodium valproate seen in patients with POLG mutations.
We sincerely thank you and your donors for supporting this work. We look forward to working with you further so that we can increase our understanding this disease. We would like to sincerely commend you on your efforts to raise awareness about this illness and the ongoing research that is progressing in this area.
Professor Carolyn Sue
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. You can also look up the Murdoch Childrens Research Institute website for more information on Mitochondrial Disease.
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.
Professor Carolyn Sue
On Saturday the 26th November, a team of 20 riders will be riding for 10 hours covering 300km. We are looking to raise $20,000 in support of this ride. All funds raised will be given to Professor Carolyn Sue a geneticist researching a much needed cure for Alpers syndrome.
The Hughie300 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.
The annual Tour for Alpers fundraising ride ran for three years from 2013 to 2015 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.
Follow the progress via the Facebook page
If you wish to make a direct deposit, please also email firstname.lastname@example.org 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'.