Raising Awareness for Individuals Living with Rare, Genetic, and Undiagnosed Conditions
Aligned with Rare Disease Day, this unique pop-up exhibit was created to recognise and celebrate those living with rare, genetic, and undiagnosed conditions. Featuring photos and stories of local individuals and families, the exhibit aimed to raise awareness of these conditions, give a face to them, but also to demonstrate that individuals are not defined by their condition.
Jake Staker is 20 years old. He loves fishing, model cars and has a fantastic knowledge of 60’s and 70s music.
Progressive muscle weakness in all muscles of the body, mostly leading to profound physical disability. Significant and fluctuating fatigue and pain which progress with the condition. In many cases, reduced life expectancy.
MD is an ‘umbrella’ term that refers to a group of rare, complex, genetic conditions within a wider group of more than 75 conditions collectively referred to as neuromuscular conditions (NMCs). NMCs cause progressive deterioration of muscle and function and commonly result in profound disability.
Each condition has a set of features unique to that diagnosis but they almost always include a severe impact upon the functional capability of the -person, caused by:
Julia is a happy Wife, Mother, Grandmother and step Great Grandmother.
She runs the Coffee Biz at Lions, working hard from Monday to Sunday and up at 4.30am cooking for the cafe.
She loves spending time, when possible, in her Bali home, travelling, enjoying friends and family outings, special events and travelling with La Chaine des Rotisseurs; a very old worldwide gastronomic society which brings together professional and non-professional members who share in the “spirit” of the Society and who enjoy wine and fine dining.
The pain of TN is defined as either type 1 (TN1) or type 2 (TN2). TN1 is characterized by intensely sharp, throbbing, sporadic, burning or shock like pain around the eyes, lips, nose, jaw, forehead and scalp. TN1 can get worse resulting in more pain spells that last longer. TN2 pain often is present as a constant, burning, aching and may also have stabbing less intense than TN1.
It typically begins with a sensation of electrical shocks that culminates in excruciating stabbing pain that often leaves patients with uncontrollable facial twitching.
Pain is typically only on one side of the face; however, in rare occasions and sometimes when associated with MS, patients may feel pain in both sides of their face. Pain areas include the cheeks, jaw, teeth, gums, lips, eyes and forehead.
Lettie is a social little butterfly who is 8 years old and loves her dolls, horse riding and ballet. She attends a lovely school in the Hills and is always keen to meet new people. Her favourite colour is purple, and she is adored by her dog Lady B and family.
Lettie was born with the genetic condition of Sotos Syndrome. Roughly 1 in 14,000 people are born with this genetic syndrome. Symptoms include overgrowth in childhood, distinctive facial appearance, and learning disabilities or delayed development of mental and movement abilities.
In 2008, after three long years of suffering – not unusual for this disease, unfortunately – Melissa was diagnosed with Pulmonary Arterial Hypertension classification 1, stage 4, and told she probably had only months to live. She felt enormous relief, because finally she knew all these symptoms were not in her mind as had been suggested. Melissa was incredibly fortunate that the PBS had just begun to support the medication that would literally save her life.
Naturally, she wanted to find out more about her rare disease, promote and educate about it and contribute to shortening the length of diagnosis time, which is vital to quality of life and survival. From 2010 – 2020 that is exactly what she did. From support group, to network, to an Australian Association and Charity, Melissa did it all. She worked very hard, had many successes, gained new qualifications, received some wonderful awards, helped people, and loved the work – all while making a real difference.
Pulmonary arterial hypertension (PAH) is a rare, progressive disorder characterized by high blood pressure (hypertension) in the arteries of the lungs (pulmonary artery) for no apparent reason. The pulmonary arteries are the blood vessels that carry blood from the right side of the heart through the lungs. Symptoms of PAH include shortness of breath (dyspnea) especially during exercise, chest pain, and fainting episodes. The exact cause of PAH is unknown and although treatable, there is no known cure for the disease.
Michelle is the founder of Invisible Illnesses Inc, something she knows all about having a few herself. Michelle was diagnosed with Fibromyalgia in 2009 which is a chronic pain and chronic fatigue condition with another 250 symptoms. In May 2020, during the height of COVID lockdown, she was rushed to emergency surgery on her head for what turned out to be a rare condition called Necrotising Fascitis, which is a flesh-eating bacteria. Having it in the head is extremely rare and she is only the 2nd worldwide documented case. As if that wasn’t enough the form she has is also antibiotic resistant. Michelle donates her blood each month in the hope that a cure will eventually be found.
Fibromyalgia is a disorder characterized by widespread musculoskeletal pain accompanied by fatigue, sleep, memory and mood issues. Researchers believe that fibromyalgia amplifies painful sensations by affecting the way your brain and spinal cord process painful and nonpainful signals.
Women are more likely to develop fibromyalgia than are men. Many people who have fibromyalgia also have tension headaches, temporomandibular joint (TMJ) disorders, irritable bowel syndrome, anxiety and depression.
Primary symptoms:
A rare bacterial infection that spreads quickly in the body and can cause death. Commonly caused by bacteria entering the body through a break in the skin, such as a cut, burn, insect bite or wounds.
Early symptoms of necrotizing fasciitis can include:
A red, warm, or swollen area of skin that spreads quickly, severe pain and fever.
Later symptoms of necrotizing fasciitis can include:
Sam is a funny, charismatic 17-year-old Scottish Australian kid who is just about to embark on year 12. He loves Harry Potter, enjoys musical theatre at school and psychology. At home he loves to chill with his pets, watch Netflix and play Nintendo like most other teens.
After a period of lethargy and numerous testings, last year Sam was diagnosed with an extremely rare genetic metabolic condition called Pompe disease.
With Pompe disease, a gene mutation causes a lack of a specific enzyme which leads to an abnormal buildup up of a complex sugar called glycogen in the body. The muscles are particularly affected, including the heart in the infantile form of this disease.
Signs are hard to spot and diagnose in the early stages, however fatigue, muscle weakness, cramps, and breathing issues are more common symptoms. Pompe disease can cause a distinctive gait with mobility issues in later stages. Thankfully, there is a treatment but not a cure…..yet.
Enzyme replacement therapy is available which require infusions every two weeks indefinitely to slow disease progression. Sam receives these at Perth Children’s hospital, embracing his day long treatments with the help of his caring nurses who keep his spirits up alongside the Australian, and worldwide Pompe community where the sloth is our mascot!
Sheila Gibb-Martin is a retired Nurse Academic and Red Hatter who loves to travel within WA in her small campervan, sketch in the open air and try her hand at watercolours. She plays a number of table top games in the over 55’s village where she lives and even managed a dance routine with 5 other ladies, for a party prior to Christmas.
Sjorgren’s Syndrome is a disorder of your immune system identified by its two most common symptoms — dry eyes and a dry mouth. The condition often accompanies other immune system disorders, such as rheumatoid arthritis and lupus. In Sjogren’s syndrome, the mucous membranes and moisture-secreting glands of your eyes and mouth are usually affected first — resulting in decreased tears and saliva.
Hashimoto’s is an autoimmune disorder affecting the thyroid gland. Hashimoto’s disease progresses slowly over the years and the decline in the thyroid hormone production can result in fatigue and sluggishness, increased sensitivity to cold, increased sleepiness, dry skin, constipation, muscle weakness and aches, joint pain and stiffness, depression, goitre and hair loss.
A chronic disease in which the bile ducts in your liver are slowly destroyed. Symptoms include fatigue, itching or yellowing of the skin.
Tristan is a fun loving, energic little boy with a love for playing tricks on everyone and getting you to react. He is a deal maker who remembers all the deals he has made. He loves to play mums and dads and build tents.
Clinically considered to have Mitochondrial Disease as well.
The main symptoms of KBG are:
Very little is known about his condition that we discover more symptoms as he grows older. His various conditions could lead to a shortened lifespan given the severity of his case. Tristan has full time support 24 hours a day in all environments to help him take part in day-to-day activities.
Chisholm a beautiful boy who loves to solve puzzles, build complex Lego sets and spend time out on the water fishing and swimming with his dad. He is a loving, caring little boy who is loved by all. Both Boys love playing Minecraft and ROBLOX together!
Clinically considered to have Mitochondrial Disease as well.
The main symptoms of Marcus Gunn Winking Syndrome are:
Chrisholm is slow to make most of his gross motor milestones. Needs to have corrective eye surgery throughout his life to help him keep his eyesight. Again, not much research has been done around this condition and many of the children experience learning difficulties and need to be supported through their schooling careers.
Michelle is passionate about education and supporting children to seek their potential. She was a teacher for many years and loved facilitating different things such as STEM and sustainability projects and enjoyed learning herself, before the children and she decided to homeschool. She also enjoys being involved with her church and spending time with people there.
Jordie is a wildlife warrior! She loves animals and will often sketch and paint an animal or take photos which has become a passion.
Isaiah enjoys competing in basketball, playing guitar and hanging out with his friends at youth group and church.
Levi enjoys lots of sports in particular basketball, he is an art enthusiast enjoying sketching, is always keen on making things with tools or trying to create a sculpture out of wood.
Nathan loves all things LEGO!!! He enjoys learning to swim and is always curious about science and how things work.
MELAS is a mitochondrial disease known as; A3243G Mitochondrial DNA Mutation, Myopathy, Encephalomyopathy, lactic acidosis and stroke like episodes (syndrome) or otherwise known as MELAS. It is a chronic neurological/metabolic (whole body) degenerative disease that leads to severe health issues and poor prognosis, typically fatal.
It is a debilitating disease that affects the “power houses” of cells, known as Mitochondria. Mitochondria provide the body with over 90% of the energy needed to sustain life, and MELAS (Mito) affects their ability to do this. When the Mitochondria are not working properly, cells begin to die until eventually whole organ systems can fail and the patient’s life itself is compromised
Currently there is no cure for this disease and management of symptoms is paramount. Mito can affect all cells and organs of the body, but most commonly it affects organs such as the brain, eyes, muscles, nerves and gut, as these have a high energy requirement. It is important to note that issues commonly associated with Mito include emotional instability, disrupted cognitive processes, chronic pain, chronic fatigue, exercise intolerance and toileting issues.
Jack is a 15-year-old boy who was not diagnosed with XYY Syndrome until he was 8 years old. Jack is kind-hearted, loves music and listening to the elderly tell stories about their life experiences. He is a member of the Army cadets, loves quad biking and has applied for his apprenticeship studies in heavy duty mechanics.
Kai is a 12-year-old boy who was diagnosed at 4 years of age with XYY syndrome and also has Autism and ADHD. Kai is an avid reader, loves gaming (especially TABs) and is looking forward to starting his new adventure of High School.
Tobias is an 8-year-old boy who was diagnosed with XYY Syndrome when he was 3 ½ years old. He also has co-morbidity diagnoses in Autism and ADHD. Tobias has a wicked sense of humor, is full of mischief and absolutely loves trains.
XYY Syndrome is a genetic condition caused by a random split in the cells which creates an extra copy of the Y Chromosome (XYY). XYY’ers are often taller than average and may suffer from hypotonia (weak muscle tone). They often have delayed speech development and may also face some learning difficulties, particularly those related to executive function. They have poor impulse control, particularly in the younger and teenage years, and find it hard to both emotionally regulate and process sensory inputs. Because of this their social development is often stunted and they find it difficult to form lasting friendships.
Alike WA acknowledges the traditional owners of country throughout Western Australia and recognise their continuing connection to land, waters and community. We further acknowledge the traditional carers of the land upon which our office stands, the Whadjuk Noongar people, and pay our respect to them and their cultures; and to Elders past, present, and emerging.
Alike WA acknowledges all those with lived experience, including families, carers and friends. We acknowledge the individual and collective contributions of those with a lived and living experience that is shared with Alike and in respective support groups. We acknowledge that we can only support healthy and connected communities by supporting those with lived experience.
Postal Address: PO Box 1209 Booragoon WA 6954
Office Hours: 9am to 2.30pm, Monday to Thursday
Telephone: (08) 9364 6909
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