Name: James O’Brien
Title/Organization: President, Prader-Willi Syndrome Australia; Founding Director, PWS Better Living Foundation (Housing); Director, International Prader-Willi Syndrome Organisation
Disease focus: Prader-Willi syndrome, caused by a small deletion in the 15th chromosome, is the most common genetic syndrome causing morbid obesity in children. It exists throughout the world, but most people, including many physicians, are not familiar with this potentially life threatening, devastating, life-long disorder. There is often a characteristic facial appearance with a narrow forehead, almond-shaped eyes, and a thin upper lip with downturned mouth. Scoliosis (S-shaped curvature of the spine) may develop. The condition can cause short stature, delayed puberty and infertility, learning and cognitive development delays, speech and language difficulties, problems with gross motor skills, blunted sensory mechanisms, mood swings, and behavior problems. There is currently no cure for Prader-Willi syndrome and there is no drug that can be prescribed to alleviate all of the symptoms of the condition.
Headquarters: IPWSO is headquartered in Cambridge, United Kingdom. PWSA and PWSBLF are based in Melbourne, Australia.
How did you become involved in rare disease: I feel blessed to have a dear 24-year-old son. We are not so blessed that he lives with PWS. I initially became involved through necessity to learn about PWS and to understand my son’s support needs. I now simply want to make things a little easier for future individuals and their families.
Previous career: One aspect of parenting a child with additional needs is the often-substantial lost opportunity cost. My move from shopping center and supermarket brokerage to educator at a school for children with severe and multiple disabilities came at a huge financial cost, however, being able to assist my partner with tasks of daily support was both essential and rewarding.
Awards & Education: The Sir William Kilpratick Churchill Fellowship 2017, The Winston Churchill Memorial Trust; Graduate Diploma of Applied Finance, Australian Securities Institute; Company Director, Australian Institute of Company Directors; Advanced Certificate in Estate Agency, Swinburne University
Organization’s mandate: To improve the quality of life for all people with PWS and to foster the establishment and ongoing success of PWS support groups in all countries.
Organization’s strategy: With a diverse membership base spread in more than 134 countries, we develop educational resource materials, commission translations, provide genetic diagnosis for families in countries where diagnosis in not yet available, support research, hold triannual international conferences and annual regional conferences, and foster international collaborations.
Funding strategy: We are very grateful for the generous support of our network of member countries and professional/community contacts. We also receive some support from international drug companies.
What’s changing at your organization in the next year: Our greatest challenges stem from the multicultural diversity of our membership. Communications, translations, cultural diversity, diverse health systems, differences in law and a wide variation in support systems. For the past 20 years, we have chosen English as our organisation’s language, however, we now publish in eight languages and hope to expand into other languages soon. We also recognize that our membership is diverse in relation to their level of education. We hope to release more multi-lingual educational materials in both written and movie format. Hopefully, emerging digital technologies may soon assist in this process, such as multi-lingual websites and more sophisticated online translations. PWS has a prevalence of around 1:15,000 live births with equal numbers found in all races and both sexes. The syndrome in multi-stage, multi-system, and results in the need for lifelong 24/7 support. The characteristic of the syndrome that most people recognize is hyperphagia; the individuals are always hungry, which requires constant “food security.” In the absence of a detailed family and community awareness and training, the hyperphagia can rapidly lead to morbid obesity and early death.
Management philosophy: Working almost entirely with people who are volunteers is a challenging process. I try to best nurture their talents and foster greatness, while simultaneously valuing their input and acknowledging their reason for becoming involved.
Guiding principles for running an effective organization: Networking and communicating are key. For every challenge, there is a solution, although the answer can be hard to find. I am continually amazed by people’s generosity in wanting to help solve both the small and big challenges. The flurry of emails that emanates from even the smallest of inquiries, sometimes from a remote, isolated individual, is joyous to the heart. The major international collaborations, particular the cross-border and cross-culture research in genetics and epigenetics, are astounding.
Best way to keep your organization relevant: We have endeavored to embrace emerging technologies. Historically membership was a list of names and addresses who most likely received surface mail two to three times a year. Members now expect a response within hours, if not minutes. Our International and Australian associations have established numerous closed and public Facebook pages to empower members in navigating a self-help network of collegiate support.
Why people like working for you: Each person comes to an organization like ours for their own differing reason and purpose. That reason is often well hidden and sometimes difficult to discover. Once discovered, the individual deserves recognition and support in achieving their purpose. This recognition and subsequent empowerment encourages ongoing contribution and attracts new participants.
Mentor: I do love the quote from Mary MacKillop (Australian nun who the Catholic Church declared a saint), “Never see a need without doing something about it.”
On the Job
What inspires you: I remember once supporting a student with cerebral palsy quadriplegia during an art class. We sat him in an inflated truck tube on the floor of the art room, dipped his bare feet in paint, then held a stretched canvas near to his feet. He was so surprised and delighted when his uncontrollable limb flailing led to an emerging artwork, and so were we. This experience inspired me to take up painting – a hobby that has given me immense rewards. To that young boy who strives to succeed in the face of immense challenges, I am immensely grateful.
What makes you hopeful: The new National Disability Insurance Scheme in Australia makes me hopeful for a brighter future. Australian citizens with PWS will join some 430,000 people in receiving federal government funding to purchase “reasonable and necessary supports” to live an “ordinary life.” This new scheme builds on our existing National Health and promises to double the resources available to Australians living with a significant and lifelong disability.
Best organization decision: Probably the next decision. Making decisions is vital. I prefer continuous invention and re-invention. Share what you have learned to date and move forward to new ideas and frontiers.
Hardest lesson learned: Realizing that one person cannot help everyone. Back to Mary MacKillop, I find it very hard to pass by someone in need. I find it hard to be unable to fix a broken dream. I remember one father living very remotely in a developing country who was supporting three children less than five years old with PWS. (Multiple births in one family is extremely rare.) His plan was to walk to the nearest city where he intended selling his kidney to purchase a cure for his three children. There is no cure for PWS.
Toughest organization decision: Having the difficult conversation with individuals that need to move on from longstanding board service. (I dare say someone will need to give me the nudge soon.)
Biggest missed opportunity: My real estate experience has taught me to “always ask for the order.” A good agent will have a repertoire of eight ways to ask for the same order, as most people do not say no more than seven times. The occasions when I have walked away without asking for the order (the donation, the help, etc.) are my biggest lost opportunities.
Like best about the job: I love being busy. I also love seeing others develop and flourish.
Like least about the job: Thinking of work at 4 a.m. Many people I email will notice a disturbing pattern of “sent” times that highlight my early morning typing.
Pet peeve: Laziness. That sounds a bit harsh. I am quite accepting of people who, for whatever reason, can’t work. I am more inpatient with people who won’t work.
First choice for a new career: I would like some additional international directorship experience in the charity sector. I suppose it is just wishful thinking that I may be remunerated.
Most influential book: How to Win Friends and Influence People by Dale Carnegie. An odd book for a teenager to read, but I feel it has served me well all my life.
Favorite movie: The Blues Brothers. Possibly their never give-up; never ever give-up; never ever, ever give-up Winston Churchill attitude.
Favorite music: Hello by Adele
Favorite food: Chinese
Guilty pleasure: Chocolate: I have eaten chocolate almost every day of my life.
Favorite way to spend free time: Painting—usually seascapes or portraits—and digging my toes into the sand on the beach.
June 14, 2018