A Dundee family have told how their nine-year-old daughter faces an uncertain future after being diagnosed with a rare spleen condition.
Ruby Mackay has Gaucher disease, a genetic condition that caused her spleen to grow to six times its normal size.
It was originally feared the genetic condition could be leukaemia as doctors conducted a series of tests.
While the St Andrews Primary School pupil should be living the most carefree days of her life, it is unclear what having the illness will mean for her in the months and years ahead.
The disease affects the young kickboxer’s body as it struggles to break down a fatty substance called glucocerebroside.
Mum and dad, Sarah and Ian, say it caused Ruby’s spleen to resemble an “aubergine” as she suffered symptoms like fatigue.
The family initially faced an anxious wait to find out what was wrong with Ruby, following tests at Edinburgh’s Royal Hospital for Sick Children, before they discovered she had Gaucher’s.
Ian, 48, said: “When they came back and said it wasn’t leukaemia there was some comfort, but they still didn’t know what it was.
‘We don’t know what we are facing yet’
“When it was diagnosed as Gaucher we discovered there was no cure, and there are varying degrees of the condition and how it can impact your day-to-day life.
“We are at the stage where we don’t know what we are facing yet but her spleen was about six times the size.
“The doctors showed us a case study of twins that had the condition and one was affected completely differently to the other.
“Ruby’s bone marrow isn’t producing enough red cells and this has impacted her growth and caused her spleen to enlarge.
“Looking at her from the outside it isn’t necessarily visible that there is anything wrong with her – the reality is that her spleen is crushing her other organs.”
I would give up everything to find a cure… the trouble is we don’t know what this is going to progress to
Ruby has now began a process of enzyme therapy at the Royal Hospital for Children in Glasgow which has helped to reduced the size of her spleen to 18cm.
Ian said: “Ruby is now going through enzyme therapy treatment every second Thursday.
“The way we’ve described it to her is like a car running out of petrol and that’s why she needs the treatment.
“Given the reduction in size of the spleen is a major positive – she has been full of beans.
“Hopefully through more treatment it will allow her to grow and develop, if the spleen continues to reduce in size.”
Sarah, who has now become Ruby’s carer, says the lack of support groups out there has made things more difficult.
‘We don’t want to stop Ruby being a kid’
She said: “With it being so rare there is a lack of support services out there and that has been hard, but the doctors have been fantastic.
“We don’t want to stop Ruby being a kid. Given the condition, if there is a bump or a fall, she is bruising more easily and she is more susceptible to breaking a bone.
“This has impacted on her being able to participate in PE and doing her kickboxing.
Sarah added: “I would give up everything to find a cure and we are trying to raise money for further research.
“The trouble is we don’t know where this is going to progress to, she might be brilliant but it could easily go the other way.
“We’ve been looking at other countries to see what treatments they provide, including Holland.
“At this stage we are now trying to raise funds to help with up-and-coming research.”
A spokesperson for NHS Greater Glasgow and Clyde, where Ruby is receiving her treatment, said: “Gaucher disease is a very rare genetic condition where a protein, which breaks down a fatty substance inside a compartment of the cell called a lysosome, is either missing or not functioning.
Specialist service in Scotland
“As a result, glucocerebroside builds up in various organs in the body, causing the stomach to swell up due to enlargement of the spleen and to a lesser extent liver.
“The protein also builds up in bone marrow too, preventing it from functioning. This causes anaemia and low platelets, which require blood transfusions.
“In Scotland we now have a nationally commissioned specialised service called the Scottish Inherited Metabolic Disorders services.
“Through this we can now provide a synthetic replacement of the missing or non-functional glucocerebrosidase with enzyme replacement therapy.
“However, enzyme replacement therapy cannot be used on forms of Gaucher disease that involve the brain.
“At times a person with anaemia or who is finding bruises for unexplained reasons may be screened for cancer, but Gaucher disease should be considered as a possibility.”