Child, 6, diagnosed with life threatening genetic disease after stomach aches
The girl’s mother said the experience was ‘scary and horrific’
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Your support makes all the difference.A mother has revealed her horror after her six-year-old daughter’s stomach aches turned out to be a rare life-threatening genetic disease.
Betty received a call from her daughter Esmee’s school saying she needed to be picked up as she had a stomach ache, was vomiting and had blood in her urine.
A pharmacist advised Betty that she should call 999 and when paramedics arrived, they decided to take Esmee to hospital.
But when she arrived at Sheffield Children’s Hospital, several tests including a urine sample were taken and revealed that Esmee’s kidneys had failed, reports SWNS news agency.
She was then taken to the Intensive Care Unit (ICU) where she was sedated, ventilated and put on dialysis.
Esmee was then diagnosed with a rare genetic disease called Atypical Haemolytic Uraemic Syndrome (aHUS).
According to Kidney Research UK, the condition arises when blood vessels within the kidney’s tiny filters become blocked by blood clots.
Esmee was able to access life-saving medication called Eculizumab and she was discharged in time for Christmas last year. Every two weeks, she has to take the medication as her family learns how to support her as she lives with the condition.
Her mother, Betty, told the news agency that the experience was “very scary and horrific”.
She said: “It was a very scary and horrific time for us but the consultant was so reassuring and professional, so we knew we were in good hands.”
Esmee is now back at school full-time and has been able to restart swimming and football lessons.
Betty decided she wanted to raise money for the hospital and when she heard her friends Martin and Kirsty were doing the Yorkshire Three Peaks, she decided to join in.
They hope to complete a 25-mile trek in just under 12 hours, with a goal of raising £5,000 for the hospital.
Betty, of Rotherham, South Yorks, said: “We initially called them crazy until we decided to be crazy too.
“Then some of our friends and family decided to join us and we are now a team of nine.
“The group chat is filled with links of walking boots, screenshots of the walks we are doing and any training tips for this amazing challenge.”
The mother-of-one added: “Not only have they saved Esmée’s life, but they also looked after us so well and were amazing support during such a traumatic time.”
With additional reporting from SWNS
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