Megan is 37 and a mother of two young girls and is about to commence her first year of General Practice training. When Megan was 19, she woke up one Friday morning and very unlike her, she couldn’t get out of bed. Little did she know she had thrombotic thrombocytopenic purpura (TTP), a potentially life-threatening blood disorder. She felt very tired, fatigued and had no appetite – didn’t go to work and slept the whole day. The next day (Saturday) she noticed her urine was unusually very dark, so she went to an emergency GP for an assessment. Megan was diagnosed with a UTI, although “that didn’t sit very well” with her as she wasn’t symptomatic.

Again, Megan slept that day and still couldn’t eat anything. Very early Sunday morning Megan woke up and said to her mother “I feel like I’m going to pass out”. Her very intuitive mother took her to the Emergency Department at Royal Perth Hospital all the while Megan saying, “this is so silly, I just have a cold, this is so embarrassing”.

After a full blood count, Megan’s platelets showed to be low, so they sedated her and placed a catheter in her veins to receive plasma. The medical professionals were unsure of the diagnosis of Megan’s condition, however, due to her platelet count and other clinical profile, there was sufficient information to believe it could be TTP.

Megan remained in hospital for over 2 weeks, and when she was being discharged no one explained what she needed to do about her blood disorder or whether to come back to see anyone – it was quite a traumatic experience. After leaving the hospital, Megan did receive one outpatient appointment, however no further follow-ups.

“it’s a really rare condition and you’re discharged out into the community, you’re hoping it doesn’t happen again, although can never be sure”

While studying medicine Megan met Professor Ross Baker, when he presented a lecture about blood disorders at her medical school. After the lecture Megan was able to speak with Prof. Baker and told him she had TTP. He suggested she see a haematologist if she wanted to have children.

After seeing a haematologist through her first pregnancy, Megan found there were no guidelines regarding her condition. This created uncertainty for her health professionals as to what the best process was for her blood disorder during the pregnancy, as this is a time for possible relapse.

Megan started seeing Prof. Baker during her second pregnancy.

“Prof. Baker provided unique knowledge and helpful care as he understood the rare nature of TTP, and how to manage the condition, especially while I was pregnant.”

Prof. Baker was able to answer tricky questions around genetics and having babies – he provided that peace of mind, and his contribution throughout Megan’s second pregnancy was completely different to her first.

“it’s this person by your side throughout the process, which is very helpful”

While Megan does not have the genetic variant of TTP, she does have an overall genetic susceptibility to a group of similar blood disorders which include TTP. Prof Baker helped her understand what this could mean for the future, as the symptoms could still occur spontaneously. It remains a serious life-threatening disorder, and Megan will need to remain vigilant.

Looking back, Megan found that at 19 she didn’t really understand the severity of what was happening, feeling like a child and being bored in hospital and thinking I’m not going to go to Canada for her working year. She realised how fortunate she was to be able to walk out of the hospital and continue her life and start a family.

“You’re able to appreciate the seriousness of the event and appreciate your life.”

Megan still thinks about a relapse, however Prof. Baker said that every year that passes, the chances of relapse become fewer. This outlook and prognosis have given her a better perspective and grasp on the condition. Her one piece of advice to anyone with a rare condition – go find a medical specialist with expertise in that area because they can provide the additional knowledge and information to help.

“Uncertainty is hard for anyone to deal with.”