I’m Matthew, a Peutz-Jeghers Syndrome (PJS) warrior/patient. I was diagnosed at the age of three after a trip to the local general practitioner where the dark spots on my lips were noticed. Dark spots on the lips are a tell-tale sign of PJS.
PJS results in a missing tumour suppressing gene. There is no current cure and no medication to help control PJS.
My rare disease affects me in some way, shape or form each day and night and has done since I was a child. Whether PJS is the primary or secondary cause of the ongoing health issues that continue to play a part in my daily life is unknown.
PJS impacts the way I eat, what I can eat, the sort of work I can do, travel plans, sport, my social life and friendships. Living with PJS also impacts my family life. The uncertainty of our lives hangs over us like a cloud and my wife never knows what she is coming home to at night after work. PJS also takes up a lot of time with medical appointments, medical costs and plenty of daily life things that I have been doing for so long that they have become my normal but are not part of the average person’s daily routine. For example, I don’t have the luxury of leaving home without planning the day ahead and making sure I have my medication and anything else I might need. Nothing I do is spontaneous.
Being diagnosed with PJS means I have lived with the increased threat of cancer hanging over me since I was the ripe old age of eight. According to NORD – National Organization for Rare Disorders, the lifetime risk of developing cancer in people living with PJS can be as high as 93%.
There are many medical services that could help to increase quality of life for people living with PJS. Those living with PJS should have access to bulk billed services such as yearly pill cameras, magnetic resonance imaging (MRI) of the pancreas and biliary tree as well as endoscopic ultrasounds of the pancreas on an as-needed basis. Improved local access to antegrade and retrograde endoscopy is also needed as not enough locations have this specialised equipment or the highly skilled health professionals to operate the equipment. I am based in the Australian Capital Territory and drive to New South Wales for these tests, which involves a lot of out-of-pocket costs, planning and time. Additionally, as the equipment is so rare, there is not much choice in terms of health professionals.
Personally, I have also found that diet and nutrition play a large role in managing my rare disease. I experience periods when I am unable to eat or am not able to eat much. In hospital, I would likely be given a total parenteral nutrition (TPN) supplement to ensure my body is getting enough nutrition. Having better access to dietitians and nutritionists would help me to adequately nourish my body while managing PJS flare-ups in my day-to-day life.
Living with a rare disease takes a toll on my mental health and wellbeing. Access to mental health care services is vital. As is access to genetic counselling services and improved access and pathways for services offered by Centrelink, Medicare and the National Disability Insurance Scheme (NDIS). As living with PJS impacts the sort of work I can do, there is also the need for improved employment pathways.
Care and support services that would increase quality of life include improved transport subsidies to cover the cost of travelling interstate to receive medical treatment. An increase in household income limits for disability and carer’s payments and health care cards would also increase quality of life for people living with PJS. It is far better for people living with rare diseases and disabilities to have the choice to work if they can without having to lose or reapply for benefits when their circumstances change.
Access to low interest flexible loans (home loans, personal loans, credit card loans and medical loans) would also be helpful. Additionally, access to free education to improve job opportunities and increased pay grades would be beneficial.
I would like to see an improved recognition of the life-long journey of people living with PJS. We are a lot more complicated and diverse than what you will read in any medical journal. We are not just PJS patients with a black and white list of medical symptoms and we are nearly always only treated and screened for gastrointestinal issues. In reality, PJS causes cancer in many areas of the body including in the breasts, skin, liver, pancreas, cervical spine, testicles and other areas. I was diagnosed at three and had 15 polyps removed at eight. In comparison, a friend of mine wasn’t diagnosed with PJS until 54 when he had his first polyp removed. He is now 70 and hasn’t had any more polyps since. Everyone living with PJS deserves improved outcomes and RESPECT. Advocacy, research and innovation are also vital.
I love life and will continue to fight for what is required to help people living with PJS to live their best lives. I required some help in writing my story and there is no shame in that.
Please check the Rare Disease page(s) for related Support Organisation(s)