Personal stories Living with a blood disorder Samantha's story Samantha, a 34-year-old Perth mum, was diagnosed with TTP (Thrombotic Thrombocytopenic Purpura) in 2016, an extremely rare blood disorder occuring in about three people per one million. TTP is an illness where the blood clots in small vessels in the body which can stop oxygen flowing to essential organs like the brain, kidneys, and heart. With the excessive amount of blood clotting occurring, platelet numbers become low, therefore leading to bleeding problems. Samantha noticed a rash; however she didn’t pay much attention to it. Then she started feeling unwell, and thought it best to see the doctor, still thinking it was a virus. As TTP has many unusual symptoms, including feeling tired and having a headache or fever, the doctor was unable to determine what it was. The rash could also be misinterpreted, as a group of pinpoint-sized purple dots (petechiae) on the skin is also a sign of TTP. “Don’t ignore the signs like I did. I knew there was something odd happening, but I overlooked it, thinking it was a virus." Diagnosis only occurred after a frightening moment when Samantha would not wake up and her mother called an ambulance. Samantha was in a coma for three days while the doctors conducted tests to determine what was the cause of her symptoms. On her initial admission to hospital Samantha’s platelet count was six, which is potentially fatal. The situation was so dire, her family were told to say goodbye and call the family priest. The recovery process was very slow. It took nine days of plasma treatment to increase her platelet count to 150 and then Samantha could go home. Unfortunately, after treatment stopped Samantha’s platelet levels plummeted and she required hospitalisation again. Surgery was required and chemotherapy, followed by another eight weeks in hospital and four weeks as an outpatient of continued plasma treatment. During Samantha’s time in hospital, one of the most difficult aspects was being away from her daughter. There was also the fear of relapse and being hesitant when performing certain tasks. Over time, Samantha has started to get back to normality with the support of her family, friends, and workplace. However, as there is no treatment, Samantha must regularly check for petechiae and any signs or symptoms associated with TTP, including check-ups with her doctor every six months. As TTP is rare, Samantha researched the condition herself and searched globally for any relevant news or treatment options and support groups available. She found that most resources and centres associated with TTP were based in America or eastern Australia. After an extensive search across the world, to Samantha’s surprise her pursuit for any information on TTP led her back to Perth and to PBI and she learnt of the ground-breaking research being done in this area. Due to the rare nature of TTP it is difficult to find people with the same condition. Samantha has felt quite isolated as there isn’t anyone to speak with experiencing the same symptoms and perhaps similar fears. Fortunately, after discovering PBI, Samantha was comforted by the fact there was a place where she could talk about TTP with people who would listen, understand and support her. Professor Baker met with Samantha to discuss her condition and was able to answer her questions including whether she should receive the COVID-19 vaccine. He was also able to put her in touch with one other TTP patient who has gone on to have children and manage her condition. Having another child has been something Samantha has wanted for a while but feared. Gaining this new insight into her condition has given Samantha reassurance and the possibility for expanding her family. “I didn’t feel so alone anymore.” Understanding how rare this condition is introduced Samantha to the importance of research. As there are limited cases of TTP (especially in Western Australia), Samantha contributed to PBI’s research division by donating her blood to the bio bank study. Samantha continues to raise awareness through Facebook and started fundraising for TTP research. Samantha’s experience has been scary and TTP will continue to be part of her daily life. However, she has found the journey very rewarding with the ongoing encouragement she receives from her friends, family, and the team at PBI.