Mum given new lease of life after medical breakthrough

Stacey Sheppard is one of the first in the world to benefit from life-saving treatment after being diagnosed with a rare defficiency disorder that affects her lungs.
Stacey Sheppard is one of the first in the world to benefit from life-saving treatment after being diagnosed with a rare defficiency disorder that affects her lungs.
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A MUM has battled back from the brink of death after becoming one of the first in the world to benefit from a medical breakthrough.

Stacey Sheppard, 23, was told she had just one year to live after a mystery illness left her hospitalised and almost unable to breathe without help.

Now the mum-of-one, from Ryhope, is on the road to recovery after pioneering research by scientists in the North East meant she was able to be diagnosed with a rare immunity deficiency, “DCML deficiency syndrome”.

Patients with the syndrome are missing vital cells in their bone marrow which fight infection and the condition can lead to leukaemia and lung disease.

In 2009, Stacey, mum to three-year-old Ellie, was taken to hospital and with a severe bout of pneumonia.

She said: “I couldn’t do anything for myself. I was deteriorating day by day and my weight dropped down to six-and-a-half stone. I just kept getting worse and worse.

“I think in total in that year, I was home for three weeks. I lived in ward 29 and got infection after infection.

“Nobody could tell me what was wrong and the tests weren’t showing anything.

“With the lung condition, I was constantly coughing and couldn’t even get a sentence out. Mucus was coming up all the time and even climbing the stairs was an effort.”

During doctors’ search for an answer, Stacey, who became oxygen dependent and had to sleep with the aid of a ventilator, was sent to London where she was had her lungs washed out with 90 litres of water on three occasions to get rid of the fluid that was blocking her airways.

But it wasn’t until a bone marrow biopsy in July that the breakthrough was made and it was discovered she had immune deficiency.

In September, she underwent a week of chemotherapy before having a bone marrow transplant to replace the missing immune system cells and repair her lungs.

She said: “I was told that the transplant was not guaranteed to be successful and that I may not survive, but if I didn’t have it I was given a life expectancy of one year.

“The transplant has quite simply given me my life back - I can now walk short distances, I still require oxygen but it’s considerably reduced and I no longer need a ventilator at night time.

“I’ve got a three-year-old girl so it’s been wonderful to be home with her and able to do activities with her that I’ve missed out on.

“Ellie was born 24 weeks premature and I’ve been told that normally anyone with this problem miscarries or has their child really premature so it’s so unbelievable that she is here with us as well.

“With the chemo I’m unable to have children so it really is a miracle she’s here.

“I can’t thank everyone enough for giving me my life back.”

The research into the condition, which was funded by blood cancer charity Leukaemia and Lymphoma Reseach, the Medical Research Council and the Wellcome Trust will be published this week in the Journal of Experimental Medicine and it is the first time DCML has been diagnosed in humans.

Professor Matthew Collin, Stacey’s consultant and the scientist who led the research at the Institute of Cellular Medicine at Newcastle University, said: “The identification of this immune deficiency syndrome is important because it gave us the confidence to perform a bone marrow stem cell transplant and offer a real chance of a cure.”

Stacey’s auntie died at 24 after contracting lymphoma and her father died at 35 of leukaemia. Her grandfather, too, also died of the disease in his 30s. Had DCMl been understood then doctors say it was possible their illness would have been understood and possibly prevented.