My name is Joanne Griggs, and for those, I don’t know, especially those with younger children, I’m taking this opportunity to introduce myself, my research and my family.
My husband, Adam, is an allied health qualified artisan at Montsalvat. There he has created the “Jester’s workshop”, which is a truly magical clowning and puppetry destination. We encourage you to come visit. For information please visit the ‘Jester Workshop’ Facebook page. We sell puppets and present all sorts of fun workshops. Then there’s Ruben and Mia, our 15-year-old twins.
Ruben is a year ten student with his own Lego business at Camberwell Market. He is well on the way to becoming an entrepreneur and/or a professional basketballer.
Mia has Prader-Willi Syndrome (UPD) and is in year eight at a mainstream school. Her main love is puppeteering, and we have encouraged this endeavour strongly. Mia works at Montsalvat with her Dad and is a pen pal to Cheryl Henson, Jim Henson’s daughter (Muppets).
I am currently a scientific researcher Postdoctoral Fellow at Victoria University (VU) and a lecturer at Trinity College Uni-Melb. My work in Prader-Willi Syndrome continues. Over the past 13 years (9 at VU), my objective has been to alter the appetite behaviour in Prader-Willi Syndrome. Before Mia’s diagnosis, I was a professional artist and teacher of 30 years. When the twins were born, I focused on creating targeted intervention techniques for Mia’s developmental delay, and I authored a book, “Miracle in Potential”, which explored the use of arts as early-intervention. This was foreworded by Prof. Dinah Reddihough, of the RCH.
When we received a diagnosis of Prader-Willi Syndrome, due to Mia’s weight and hyperphagia, we knew we would have a lifelong battle with appetite. It was at this time that we prayed for a cure.
The answer came in a health food-brochure talking about ancient cactus plants utilized to sustain tribal hunters when food was unavailable. With hope in our hearts we researched cactus for appetite and found Caralluma Fimbriata extract (CFE) – an Indian famine-food.
Currently no natural supplements are recommended (by medical practitioners) to block the hunger associated with the Prader-Willi Syndrome characteristics. For years I was thinking the our scientific research would demonstrate that Caralluma was, “blocking” hunger.
We now know Caralluma fimbriata extract (CFE) – an Indian cacti-form succulent – is actually, “correcting” the hunger.
Dr Joanne Griggs
The research we have been doing at Victoria University and through the Florey Neuroscience Institute with generous gifts from Gencor Pacific and the Garvan Institute has shown that it’s possible to reinvigorate a natural state of homeostasis in someone with Prader-Willi Syndrome. This means, the individual ingesting the supplement CFE will be hungry and then satisfied after food. Then hungry again and then satisfied after a meal, just like you or me. This is an important distinction as we all need to feel the experience of ‘feeling hungry and feeling full”.
‘from our research we have determined CFE to significantly improve appetite behaviours in children and adolescents after 4-weeks treatment, compared to placebo, recorded by parent/carers. ‘ The highest response was at the recommended adult dose (1000mg/d CFE) in average weight participants.’
Dr Joanne Griggs
Further, our animal study has isolated the mechanistic action of CFE. Currently our PhD student “Balu”, is working on researching this mechanism in cells. Due to Balu’s work being unpublished we are unable to release full details yet, but we do know through my work and collaborations with Prof. Stefan Stamm in Kentucky USA, that CFE has demonstrated epigenetic modifications which increase full-length 5-HT2c receptor mRNA expression. This means that the cactus creates a change in the genetics within a cell, which improves serotonin reception along a neuronal pathway in the brain.
This pathway is identified in appetite balance and is important in feeling “full”. It is well known that this specific receptor is involved in hypothalamic recognition of satiety however, in PWS due to paternal deletions of SNORD115 pre-RNA scientists have found that this receptor is truncated (shortened). This means it doesn’t function. I found out about CFE’s action with this receptor during my PhD and now Balu is researching CFE’s ability to transcribe and translate the full-length 5-HT2c receptor mRNA.
Though toxicology of the powdered extract CFE has been investigated at extremely high doses in animals (5000mg/kg bw/d), we have still been trying to fund a large clinical collaborative study to look at a higher dose of CFE for adults with PWS. The difficulties faced have mainly been due to CFE being a natural product and Australia being a smaller population. Mia’s medical practitioners have been inspired by her capacity to resist food however, they are not allowed to recommend something before it has been through all the necessary clinical processes. We need phase 2 & 3 trials to be completed. These include a dose response trial and a larger clinical trial. We believe orphan drug status may be available, making CFE an available early intervention.
Though toxicology of the powdered extract CFE has been investigated at extremely high doses animals (5000mg/kg bw/d), we have still been trying to fund a large clinical collaborative study to look at a higher dose of CFE for adults with PWS.
Further, the team at VU is interested in hearing from families of younger children as I believe CFE could be utilized as an early intervention. If we can create a longitudinal study in children with PWS we may be able to research if CFE can create a balanced lifestyle against preoccupation with food in individuals with PWS.
Importantly, we as a family have free access to food. This means a free open kitchen and Mia is allowed time at home alone. We have no interventions at school, though we communicate regarding excursions. Mia knows what to do, i.e. if someone shares cake, Mia brings it home. Overall Mia has a very clear routine with some wriggle-room. We don’t stop her eating any type of food, though she knows what’s healthy and what’s not.
All nutritious elements are met including eating a good amount of protein balancing fats and dropping carbs. Everything is balanced and all proportions are smaller. Some elements alter day to day i.e. for breakfast one day she eats toast with fruit and one-day cereal and milk. Mia needs salt and due to CFE she drinks water easily. People always ask us, “was she ever hungry?”. Yes!!! Her hyperphagia was extreme. At 2 years of age, Mia was very over-weight and her hunger led the endocrinologist to a diagnosis (before this it was suggested she had cerebral palsy). Fatefully her diagnosis led me to research appetite suppression and from early on the administration of a simple daily supplement altered Mia’s appetite and our lives.
In the meantime, I wish you all the best in your own endeavours. Mia no-longer has a problem with free access to food. We know that appetite is not the be-all and end-all in PWS as many other aspects of PWS also keep us extremely busy. Even so, it is lovely to not worry when we hear Mia get up in the middle of the night by herself. It’s water she is getting!! My wish is that more families can experience this freedom.
If you are interested in research into CFE and would like to help, you can contact either Dr Joanne Griggs and Professor Michael Mathai College of Health and Biomedicine, Victoria University, Melbourne Email: joanne.griggs@live.vu.edu.au or Michael.mathai@vu.edu.au
Prader-Willi Syndrome (PWS) is a rare, complex, unique, life-threatening multistage genetic disorder which affects 1 in 15,000 births and results in an abnormality of chromosome 15. PWS can have a significant impact on behaviour, learning, mental and physical health, community inclusion and social relationships. People with PWS exhibit high anxiety, complex and challenging behaviours and cognitive dysfunction throughout their lives. PWS is a spectrum disability, and the degrees of visual abnormality varies immensely. Many people with PWS also have psychiatric problems and autistic characteristics. A defining characteristic of PWS is hyperphagia, or a compulsion to eat. For more information visit www.pwsavic.org.au
Prader-Willi Syndrome Association of Victoria (PWSA Victoria) is a volunteer lead ACNC registered Australian Charity, with many volunteers having lived experience. Their role is to work closely with organisations around the world, whose vision and purpose align with their own, to ensure their local PWS community is well supported, while researchers around the world work hard to find a cure and viable treatments. The PWSA Victoria’s aim is to continue to break down barriers and create a world where everyone with PWS has access to the right tools, to enable them to live a full and inclusive life. For more information, please visit www.pwsavic.org.au
