Gabbie
Gabbie has lupus and is hopeful new research will lead to better treatments
Phot credit: Jamila Toderas, The Canberra Times
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At the start of 2019, Gabbie was in an induced coma, close to death. Gabbie suffers from lupus, which made her pneumonia deadly. Dr Simon Jiang is her treating doctor and a researcher at the Centre for Personalised Immunology, and this year discovered a rare genetic mutation which causes lupus.
Lupus is a chronic autoimmune disease in which the body's immune system becomes hyperactive and attacks normal, healthy tissue. Symptoms include inflammation, swelling, and damage to the joints, skin, kidneys, blood, heart, and lungs. Gabbie was diagnosed when she was 14, but her disease became more serious in her 20s. This discovery, made through using the CPI approach, will allow for more targeted treatment of lupus. The researchers showed that most lupus patients harbour rare gene variants, and how these rare gene variants cause immune cells to no longer work properly. When these cells no longer work, the immune system struggles to distinguish viruses and bacteria from self, leading to lupus. Some Gabbie’s worst daily symptoms of the disease are actually caused by the treatments, with drugs like steroids causing inflammation around the face and nausea. With this diagnosis, there is a huge potential for targeted treatment. Gabbie is an ideal candidate for a medication being trialed in America. |
Emily
Emily, pictured with her four-week-old daughter, Charlie.
Phot credit: Karleen Minney, The Canberra Times
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Emily became unwell with a mysterious disorder at the age of 16. She had debilitating symptoms where, on some days, she could not talk, walk or eat. Treatments that provided some relief often came with horrendous side effects, whilst others were only effective for a short time. Finally, after many years of being undiagnosed and suffering from a variety of symptoms, Emily was diagnosed. In 2016, the CPI sequenced Emily’s exome and pinpointed a mutation which was causing her illness; Yao Syndrome.
Yao Syndrome is an autoinflammatory disease resulting in periodic fever, dermatitis, arthritis, and swelling of the distal extremities, as well as gastrointestinal and other inflammatory diseases of glands and tissues in the body. This is an incredibly rare disorder, and Yao Syndrome has an estimated prevalence of 1 in 10,000 to 1 in 100,000 people worldwide. The Centre for Personalised Immunology provided Emily with treatment options which have alleviated her symptoms. During her illness, Emily was unsure if she would be able to have children. After receiving an exact genetic diagnosis and the subsequent treatment Emily is no longer suffering from debilitating symptoms. Since her diagnosis and treatment, Emily has also been able to have her first child. |
Tanya
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Tanya* originally became unwell at the age of 11 and was “diagnosed” with a range of different disorders. In particular, Tanya suffered from multiple chest infections throughout her teenage years. Tanya has been on immunoglobulin replacement since she was 12. This is a broad-spectrum treatment, which can have many negative side effects which can include serious allergic reactions, kidney failure, headaches and flu-like symptoms.
In 2014, Tanya fell into a coma as she was unable to eat or drink anything. The coma came after a long time of being on treatment for a variety of different disorders, with doctors never knowing what was wrong with her. She was suffering from ongoing diarrhea and vomiting after every meal. In 2016, the CPI sequenced Tanya's exome and diagnosed her with a CTLA4 mutation. Now, Tanya has a diagnosis, which has enabled her to tell new doctors, nurses and emergency response staff about her immune condition. While Tanya was suffering from all of the various complications, it was incredibly frustrating to be told that no one knew what was wrong with her. Tanya has been empowered by her diagnosis and is now able to inform health care professionals about her rare disease, and receive appropriate care as a result. *Name has been changed. |
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