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Kayleigh’s Story

WA Paediatric patient experience, told by her Mum Ashleigh

Kayleigh’s experience of a rare genetic disorder

Little Kayleigh, now aged 4, has been through so much for the past 2 and half years. It all started back when she was an 18-month-old in 2021, with a rash on her legs which could not be identified.

She was referred to the PCH (Perth Children’s Hospital) haematology team, who did blood tests and found some of her levels were low.

Over the next few months she was thoroughly investigated, with results being inconclusive. She had blood tests every couple of weeks, ultrasounds, X-rays, bone marrow extractions, an eye test, CT scan, biopsy of the skin, iron infusions, liver biopsy etc. Her liver and spleen were found to be enlarged but doctors were unable to discover the cause.

In early 2023, she went in for a liver and spleen biopsy at PCH which resulted in a bleed from the liver biopsy. She spent a period in ICU and needed blood transfusions. The biopsy was again inconclusive.

Several months later, Kayleigh had an abdominal CT and an MRI of her brain under general anaesthetic. The CT showed her spleen had grown to 19.1cm (a normal spleen is a small fist size of roughly about 8cm). It was decided that she needed to have her spleen removed (splenectomy).

Not long after that decision Kayleigh became unwell with fevers. She was rushed from Bunbury to PCH where her splenectomy date was brought forward. Her blood tests were irregular, and she needed many infusions. She also had a PICC line (central line) put in and was commenced on TPN (liquid nutrition via her central line). This was because she couldn’t eat anymore due to the overwhelming size of her spleen in her small body.

The time for the surgery arrived and my husband and I took her down and gave her a kiss goodbye before she went to theatre. We waited anxiously with our parents to hear the news from the doctors. Her operation took 6 hours. She went to ICU to recover. She lost a lot of blood during surgery so was given blood transfusions again. Recovery was difficult and involved doctors, nurses and the allied health staff including the physiotherapist and dietician. The good news is that removing her spleen improved her quality of life significantly because this large spleen was creating difficulties for her to eat and had been causing general discomfort.

Our little girl has had so many tests done: multiple blood tests, X-Rays, CT scans, MRI’s, bone marrow extractions and many blood products infused!

PCH in conjunction with the nurses at Spleen Australia have provided us with important education and information about how Kayleigh can live a long healthy life without her spleen. We received information on the risk of serious bacterial infection and understand we need to look out for the signs and symptoms of infection and act quickly in this case. She has a Spleen Australia alert card and even listened to the spleen song also! Kayleigh has had all her “spleen” vaccinations and we are aware of the boosters in the future.

In late 2023, we got a diagnosis for Miss Kayleigh, she has a very rare disease called Juvenile Xanthogranuloma (a congenital skin disease related to an autoimmune disorder that can affect internal organs), there are only 12 cases in Australia since 2010. Kayleigh’s presentation is quite different.

Kayleigh has since commenced treatment for her condition that includes chemotherapy and steroid treatment. Her treatment at PCH will take some time and in the interim we have to keep a close eye on her for any issues. She has come so far in recent years and we are amazed by her courage. Her Mum, Dad and baby Skylar are so proud of her.