A Child’s Story (Periodic Fever Syndrome)

Young Australian patient story - Periodic Fever Syndrome

Our story is about our beautiful almost 5-year-old child whose diagnostic journey spans three years starting at 18 months old. It has been intense as my child has been through so much, including extreme pain. Our time in hospital was truly traumatic.

At times we have felt dismissed and left feeling helpless. It seemed as though the doctors had given up. It has been exhausting. Now after almost 2 years of back and forth to have genetic testing done, we are feeling much more positive.

At first, the diagnosis was transient synovitis because it always occurred after a "virus", fevers and a rash. It eventually led to hospitalisation with a suspected bone infection. Despite elevated inflammatory markers and a surgical joint washout, no bacteria were found. MRI revealed a large lesion and necrosis of the right distal femur. Despite weeks in the hospital and multiple fevers, the cause remained elusive.

Further admissions followed with fevers, pain, and limping of both legs. We have had several specialties involved. A fever and symptom diary revealed clear fever flares with evolving symptoms, suggestive of a Periodic Fever Syndrome.

We started taking a first line medication two years ago and it has helped reduce fevers, rashes and inflammatory markers but it has not alleviated other symptoms consistently.

Genetic testing has been discussed for over a year, with the suspicion of our child having an unusual autoinflammatory disease due to the presence of the atypical bone lesion. Thankfully, our employers have been very understanding, as we have had to take leave without pay to care for our child. Ultimately, I was forced to decrease my work hours to reduce childcare to decrease the risk of my child picking up illnesses that could trigger a flare.

This year we started attending a small preschool one day a week to prepare for school next year. It has all been very difficult to juggle and maintain but they have been fantastic and are so attentive to all our needs and concerns.

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