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Sarah Long, Oldest Survivor Of Morquio Syndrome, Fighting For Lifesaving Drug

July 26, 2015

Every day Sarah Long becomes weaker. She cannot sleep for more than an hour at a time, loses concentration and struggles to speak.

“I don’t have much longer,” she says with a remarkable lack of self-pity. At 44, she is by far the oldest person to have Morquio syndrome, an extremely rare degenerative impairment, caused by missing enzymes, that has stopped her from growing since the age of six.

Most people with the syndrome die in their teens from a heart attack or because their lungs fail. Only 88 people in England – and 160 worldwide – are known to have the syndrome and barely a handful have made it into their 30s. Long has earned her surname.

But, then, since she lost her mother when she was a teenager, she has been nothing if not strong-willed. She puts her longevity down to “bloodymindedness, a strong heart, determination – that was something my mum taught me”.

Not only did she go on to defy every medical prediction and reach her 40s, she took a degree in sociology, then a master’s, and is now in the middle of studying for a PhD.

It was the same determination that in 2012 made her choose to test a free trial of a drug called Vimizim. She had spent eight months laid low with pneumonia, a period in which she says she “didn’t function”, and felt going on the trial was worth the gamble.

She writes movingly on disability blog My Way Access: “Can you imagine what it is like being locked inside a body, a fog distancing myself from others? Disconnected to an extent between what is going on around me and being an active player in it? Everyday, struggling to breathe, choking on mucus. The pain echoing from the lungs as they struggled to function; my cervical spine and throughout my body feeling like someone has walked up and pulled two strings at the back of the neck tightly.”

Long says she will never forget the day she started taking the drug: “It was 29 February and I totally changed. Before, it was like I was walking through treacle. Everything was a struggle but afterwards I had a lot more energy.”

After taking Vimizim she hardly experienced any infections. If she did, the recovery time was measured in weeks not months. She was able to sleep for as many as four hours a night, an astonishing achievement by her standards. Her academic work blossomed.

And then her world fell apart. Vimizim’s developer, BioMarin, stopped supplying her with the drug. Testimonies provided by her friends to the National Institute for Health and Care Excellence (Nice), which provides guidance to NHS England on funding drug treatments, describe a decline in her health. Having gone from being alert and energetic she is sinking fast, in considerable pain, and soon expects to be put on a ventilator.

Tyla Thackwray, one of Long’s helpers, observed: “I have been astounded by the speed and severity of her withdrawal. I am extremely concerned for her, and I can only imagine the pain, desperation and frustration that she feels.”

BioMarin’s decision to stop supplying Long came as an independent committee advising Nice suggested that the clinical benefits of Vimizin, which can cost up to £395,000 a year, may have been overstated.

But Long questions how this decision was reached. She believes NHS England has dragged its feet on the issue of funding, prompting BioMarin to end the trial. Hopes that NHS England would provide interim funding have been dashed.

Long’s story highlights the terrible situation confronting people with rare diseases. There may be drugs that can help them. But the extent to which they work is often unknown because credible, peer-reviewed research into rare diseases lacks funding. The troubling conclusion to be drawn from the ending of the Vimizin trial is that drug manufacturers will increasingly think twice before funding further research into treatments for rare conditions.
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A spokeswoman for Nice explained that it was still evaluating Vimizin’s efficacy. “We hope to publish final guidance in October,” she said.

However, the advisory committee has indicated that it will not recommend funding. It has “noted that elosulfase alfa [Vimizim] would not affect spinal cord or skeletal damage, and would not entirely stop disease progression, both of which significantly affect quality and length of life in people”.

But, while Vimizin may not work for everyone, notably younger patients, Long vehemently disagrees with the committee’s findings in her specific case. Now, with time running out, Long has taken to writing an open letter to the prime minister as she attempts to defy the odds once again. “I am living proof that this drug prolongs life as well as providing a quality of life,” she writes. “If, as it seems increasingly likely, the UK will not provide this treatment, it will be my end.”

3 Comments leave one →
  1. Sue Kenten permalink
    July 27, 2015 2:49 pm

    Is anyone raising funds for Sarah to continue having this drug?

  2. July 31, 2015 5:24 pm

    was wondering that myself. but there’s a big problem. it isn’t a one of thing is it?it will be an ongoing thing. so needs ongoing funding.will people be able to take on such a long term commitment? we don’t know how long it will be needed for after all. i feel for her. so cruel to experience such a dramatic change giving her her life back to have it snatched away again like that.

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  1. Sarah Long’s Open Letter To David Cameron | Same Difference

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