Saturday, 22 November 2014

Shedding Light on Tarlov cysts Patients own Journey

Shedding light on Tarlov cysts

BY KIM DAME
Hernando Today Correspondent
Published: July 18, 2013 | Updated: July 18, 2013 at 02:47 PM

Katherine Lockwitch is used to dealing with pain. Since being hit by a car as a teen, her body has suffered through a multitude of issues. Yet the onset of Tarlov cysts, settling in her entire spine, nearly cost the Ridge Manor resident the complete use of her right leg.

"I was having a lot of pain in my middle upper back," Lockwitch said. She went for an MRI to figure out the origin of the pain, assuming it was related to her car accident years before. "And they found that I had Tarlov cysts as an 'incidental finding,'" she explained, "which means they don't know what it is but it's something I shouldn't worry about."

When her physician received the report, he was uncertain how to proceed with Lockwitch's treatment. "His exact words to me were that I was a zebra with different kinds of stripes. And he couldn't identify my stripes," she remembered.

Her physician then sent Lockwitch to a neurologist who was even less interested in taking her case. "He said there weren't enough people with the same problem."

But Lockwitch's pain grew worse, causing her right leg to buckle at the knee and requiring that she walk with assistance from a cane. She took control of her own condition, researching online about Tarlov cysts and becoming proactive in finding solutions to help relieve her pain. Then she started using a rigid knee brace.

Tarlov cysts, according to the National Institute of Health, are fluid-filled sacs that affect the nerve roots in the sacrum, a group of bones at the base of the spine. The cysts can compress nerve roots, leading to lower back pain, sciatica (shock-like or burning pain in the lower back, buttocks and down one leg to below the knee), urinary incontinence, headaches, sexual dysfunction, constipation and some loss of feeling or control of movement in the leg or foot.

Tarlov cysts may also put pressure on the nerves where the cysts exist, causing pain and gradual deterioration of the surrounding bone. In some cases, like Lockwitch's, Tarlov cysts can become symptomatic following shock, trauma or exertion, causing the buildup of cerebrospinal fluid.

The American Association of Neurological Surgeons reports that most Tarlov cysts are relatively small in size and, in most cases, cause little to no pain. Yet, in about 7 to 9 percent of the general population - and in more women than men - the cysts can be very large and very painful, leading to immobility and other related conditions that get worse over time.

Many of these smaller cysts remain undiagnosed until a trauma occurs, usually around the tailbone area, such as with a fall.

Symptoms of Tarlov cysts disease may include:

Pain in the area of the nerves affected by the cysts.

Weakness of muscles.

Difficulty sitting for prolonged periods.

Loss of sensation on the skin.

Loss of reflexes.

Changes in bowel functions.

Changes in bladder functions.

Changes in sexual function.

Lockwitch suffered from bladder and bowel problems as the cysts pressed on those nerves, disabling the signals that triggered their emptying. "I was in a lot of pain," Lockwitch said. "I was unable to maintain mobility."

In her research, Lockwitch found the Tarlov Foundation, filled out a questionnaire online and was put in touch with Dr. Frank Feigenbaum, one of only a few surgeons across the country who specializes in Tarlov cysts disease, according to Lockwitch.

"He was in Kansas City at the time," Lockwitch said. So she and her husband, Greg, boarded a plane and met Feigenbaum face to face, who then officially diagnosed her with Tarlov cyst disease. And he recommended surgery.

Lockwitch underwent the surgery in October of 2012 in Texas where Feigenbaum had moved his practice. "He removed two of the cysts that were causing the most problems," she said.

She was told her full recovery could take up to a year. And nearing the one year anniversary, Lockwitch has made a dramatic recovery. "It's like night and day," she said. It was recommended that Lockwitch undergo at least two more surgeries to remove cysts in other areas of her spine.

But not all Tarlov disease sufferers are so lucky. In her search for answers, Lockwitch met another local woman who is fighting her own war with Tarlov cysts. Amy Hans from Spring Hill fell in 2010 at work and began experiencing severe pain in her lower back, near her tailbone, after the accident.

She underwent an MRI, which found Tarlov cysts, like with Lockwitch, as an "incidental finding." Since her diagnosis, Han has suffered with constant severe pain in her lower back and has problems with parathesia. She also suffers with weakness in her lower extremities.

Hans was battling a workman's comp case for the injuries sustained in the fall and settled earlier this year. But she continues to suffer from the effects of her Tarlov cysts, which evidently flared up as a result of the work accident. Unfortunately, her insurance does not cover the surgery.

"I have two choices," Hans said. "I can either be in pain in bed or I can be in pain doing things I love." She chose to fight for each day, refusing to let her disease define her. But Hans lives in constant pain. "This has become my new normal," she said.

And she struggles with an uncertain future, knowing that Tarlov cysts may debilitate her completely at one point if she doesn't get the surgery. Like Lockwitch, Hans' disease was minimized by doctors because so little is known about it. Many physicians have never been trained in Tarlov cysts and therefore do not know how best to treat their patients' pain.

Lockwitch uses a service assisted canine to help with her rehabilitation and her physical independence. Her former canine partner, Baron, was hit and killed just days after Lockwitch returned from Texas after her surgery.

But a local breeder and trainer of award-winning German shepherds stepped in when they heard of Lockwitch's misfortune. Pendragon Acres U.S. K-9 donated a new puppy, born Dec. 12, and is currently raising the $35,000 to train him as an assisted service canine.

Lockwitch named the pup Pendragon's Prince Tarlov to help bring awareness to a disease that is physically and emotionally draining.

"Tarlov disease has taken so much from me," Lockwitch said. "He's helping me get it back."

Hans struggles to keep her positive outlook intact as she gives back in an attempt to help those who fight a different battle. Hans makes charity quilts, "even though it hurts."

The two Hernando County women keep close contact, supporting each other in their common battles.

They hope one day to bring enough awareness to the disease so others who find themselves walking a similar path might have an easier time.

For more information about Tarlov cyst disease, contact the Tarlov Foundation at www.tarlovcyst foundation.org

Hernando Today correspondent Kim Dame can be reached at damewrites@yahoo.com.

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Thursday, 11 September 2014

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Daily Mail article UK tarlov cyst Patient who went to Cyprus to see Dr F

http://www.dailymail.co.uk/health/article-2748279/Back-pain-caused-tiny-cysts-spine.html

'Sitting was unbearable without a cushion': Teacher endured agonising back pain for a year until scan revealed tiny cysts on her spine pressing on nerves

Lesley Maloney, from Yorkshire, was diagnosed with piriformis syndrome
It causes the piriformis - a muscle in the buttock - to irritate the sciatic nerve, which runs through the buttock and into the leg
But physiotherapy, cortisone injections and osteopathy failed to help
Her pain got worse and sitting became unbearable without a cushion
A scan in June 2013 revealed a Tarlov cyst at the bottom of her spine
The cysts are found on the roots of spinal nerves and can compress nerves
Other symptoms include bowel and bladder problems and pain during sex
In April Mrs Maloney travelled to Cyprus to be treated by a Texan world expert on Tarlov cysts
Dr Frank Feigenbaum's technique involved popping the cysts
Mrs Maloney said: 'The difference is unbelieveable'

By GRACE MCCANN

PUBLISHED: 21:25 GMT, 8 September 2014 | UPDATED: 11:22 GMT, 9 September 2014

View comments

In May 2012 Lesley Maloney's symptoms began to get gradually worse, until she was in constant pain

Sitting in a chair might not sound like a particularly special experience — but for Lesley Maloney, it’s bliss.

She is recovering from a two-year battle with a spinal condition, which made sitting excruciatingly painful.

‘It was like sitting on a golf ball with nails sticking out of it,’ says Lesley, 58, who lives with her sales manager husband, Ged, also 58, in Wetherby, West Yorkshire.

Lesley’s symptoms began gradually in May 2012, and worsened over several weeks, until she was in constant pain.

‘It was always there, though standing and lying were easier than sitting,’ says Lesley.

Her misery was compounded by her job as a junior school teacher.

‘I sit with the children and have lots of meetings — my days were filled with pain and, often, I resorted to standing instead,’ she says.

Along with pain while sitting, Lesley also experienced severe pain down the outside of her left thigh.

‘I’d been running a lot, so I thought it might be some kind of back injury related to that.’

After suffering for about six weeks, Lesley went to a physiotherapist who diagnosed piriformis syndrome, where the piriformis, a muscle in the buttock, irritates the sciatic nerve, which runs through the buttock and into the leg.

But physiotherapy, cortisone injections — designed to reduce inflammation — and osteopathy all failed to help.

She then saw a skeletal and sports consultant who gave her an MRI scan, but couldn’t see anything wrong, and diagnosed nerve damage. She was told to rest, and her GP prescribed a painkiller-releasing patch.

Lesley hoped the pain would pass but, instead, it got worse.

‘Sitting was unbearable without a cushion,’ she says.

‘I’d take one everywhere and try to make light of it, saying, “I’ve not got piles!”’ But it was no joke — daily life became a struggle.

‘I coped with my job — it offered some distraction — but could do little else,’ says Lesley. ‘Our social life ground to a halt.’

In June 2013, she returned to her GP and pleaded for another scan. This time, the bottom of her spine was scanned and doctors found what’s known as a Tarlov cyst.

Tarlov cysts, also known as perineural cysts, are named after the late American neurosurgeon Isadore M. Tarlov, who first documented them.

They are found on the roots of spinal nerves, which are covered by a protective sheath.

More...

When the spinal fluid that surrounds the spinal column finds a weakness in the sheath, it balloons out, forming a cyst.

The cysts can compress nearby nerves, causing a range of problems, including pain around the tail bone and buttocks, or the perineum, and pain in the legs.

Other symptoms include bowel and bladder problems, such as constipation or needing to urinate too frequently, and, in women, painful sexual intercourse.

Tarlov cysts can form anywhere along the spine, but tend to be found in the sacral area at the base, which is why sitting can be so painful. Over time, they can erode the bone of the sacrum, causing further pain.

Up to one in ten of us is thought to have a Tarlov cyst, but they cause symptoms in fewer than five per cent of cases.

The cysts vary in size — usually from a few millimetres in diameter up to a couple of centimetres — and many patients have more than one, says Adrian Casey, a neurologist and spine specialist at the Royal National Orthopaedic Hospital, Stanmore.

At 5cm across, Lesley’s cyst was very large.

Women are affected far more than men, although it isn’t known why, says Mr Casey.

The now 58-year-old was initially diagnosed with piriformis syndrome, which irritates the sciatic nerve which runs through the buttock and leg

WHAT IS A TARLOV CYST?

Tarlov cysts are usually identified using MRI scans.

Also known as perineural cysts, they are named after the late American neurosurgeon Isadore M. Tarlov, who first documented them.

They are found on the roots of spinal nerves, which are covered by a protective sheath.

When the spinal fluid that surrounds the spinal column finds a weakness in the sheath, it balloons out, forming a cyst.

The cysts can compress nearby nerves, causing a range of problems, including pain around the tail bone and buttocks, or the perineum, and pain in the legs.

Other symptoms include bowel and bladder problems, such as constipation or needing to urinate too frequently, and, in women, painful sexual intercourse.

Up to one in ten of us is thought to have a Tarlov cyst, but they cause symptoms in fewer than five per cent of cases.

It is thought that people with connective tissue disorders, such as Ehlers-Danlos syndrome, which affect the tissue supporting the organs and other parts of the body, may be predisposed to developing Tarlov cysts.

Trauma — a fall, for example — may also cause an unproblematic cyst to become a problematic one, by increasing spinal fluid pressure, further inflating the cyst.

Tarlov cysts can be identified clearly using MRI scans.

However, as Lesley found, cysts that cause problems are often misdiagnosed, because the symptoms overlap with other conditions, such as piriformis syndrome and nerve damage.

Mr Casey says he sees Tarlov cyst patients from around the country whose cases have perplexed other doctors.

In Lesley’s case, once the cyst was identified, she was referred to a pain management and spinal consultant, who suggested draining the cyst via a hollow needle.

‘Big mistake,’ says Lesley.

She found the hour-long procedure agonising and derived no benefit, because the cyst refilled.

In desperation, Lesley searched online for answers and found the website of Dr Frank Feigenbaum, a Texan neurosurgeon who was widely regarded as the world expert on Tarlov cysts.

He is keener on surgery than other doctors, and operates in the U.S. and at a centre in Cyprus.

Lesley emailed her MRI scan to Dr Feigenbaum’s office, and was delighted when he called back.

But when her pain worsened Mrs Maloney, pictured with her husband Ged, also 58, returned to the doctors and was finally scanned in June 2013. It revealed she was suffering a Tarlov cyst, which was pressing on nerves in her lower back

‘It was fantastic to have this world expert ring little old me in the UK,’ she says.

‘He had my scan in front of him and said, “Yes, I can help you”.’

Meanwhile, however, Lesley had seen another British spinal consultant, who was convinced the Tarlov cyst was not the problem.

He diagnosed ischiofemoral impingement syndrome, in which pain is caused by abnormal contact between two bones in the pelvic area — the ischium and the top of the femur or thigh bone.

Lesley was left not knowing what to do. She knew treatment with Dr Feigenbaum would cost a whopping £28,000 — and that her medical insurance would only cover half the cost of treatment abroad.

Sitting was unbearable without a cushion... daily life became a struggle

So initially she persisted with the British doctor.

He referred her to another spinal consultant, who recommended a large cortisone injection.

‘It made a bit of difference, but not much,’ says Lesley.

‘I said to the doctor, “Where do we go from here? I cannot live with this pain.” He said, “You must — plenty of people do”.’

Lesley decided Dr Feigenbaum was her only hope. So she and Ged, who have two grown-up sons, flew to Cyprus in April.

Dr Feigenbaum’s technique involves making a six to nine centimetre incision in the back, popping the cysts to drain them, and then identifying the weak point in the membrane.

He mends this area with stitches, then ‘shrink wraps’ the cysts with an artificial membrane to ensure they cannot re-expand. The op usually takes two to three hours.

According to Dr Feigenbaum, the main problem with the treatment of Tarlov cysts is that many doctors have been taught that they don’t cause symptoms.

Mrs Maloney flew to Cyprus in April with her husband Ged to have surgery on the cysts. Her surgeon Dr Feigenbaum's technique involved making an incision in the back and popping the cysts to drain them

‘Some patients are even told they’re crazy and imagining the pain,’ he says.

He has even treated patients who have been misdiagnosed and undergone unnecessary surgery, such as a hysterectomy.

Mr Casey says he uses a similar technique to Dr Feigenbuam and that this is available in the UK, on the NHS or privately.

‘The British approach is simply more cautious about surgery, due to the risks involved,’ he says, adding that surgeons here prefer pain management in all but the most severe cases.

Dr Feigenbaum has operated on more than 800 patients, Mr Casey about 30. The risks of surgery include spinal fluid leaks and injury to the nerve.

Lesley was aware of the risks, but had complete faith in Dr Feigenbaum. ‘He filled me with confidence,’ she says.

The surgery was successful and Lesley was off all painkillers by day three of her ten-day stay in Cyprus.

‘The difference is unbelievable,’ she says. ‘I’m 95 per cent recovered already.’ She is exercising again, but taking it easy.

‘Dr Feigenbaum says it takes about a year for the nerves to settle,’ she says.

According to Dr Feigenbaum, about 70 per cent of his patients report improvements in the most common symptoms.

Mr Casey admits that British spine surgeons may have much to learn from Dr Feigenbaum, but wants him to share details of his complication rates to help doctors and patients better understand the surgical risks.

‘I’ve invited him to the UK next year,’ he says. ‘We’re keen to see his results.’

Adhesive Arachnoiditis after percutaneous fibrin glue treatment of a sacral Meningeal cyst

Adhesive arachnoiditis after percutaneous fibrin glue treatment of a sacral meningeal cyst.

Authors

Hayashi K, et al. Show all

Journal

J Neurosurg Spine. 2014 Jun;20(6):763-6. doi: 10.3171/2014.2.SPINE13763. Epub 2014 Apr 4.

Affiliation

Abstract

The authors present the case of a 64-year-old woman who was referred for severe sacral pain. She reported that her pain had been longstanding, and had greatly increased after percutaneous fibrin glue placement therapy for a sacral meningeal cyst 2 months earlier at a different hospital. An MRI scan obtained immediately after fibrin glue placement at that hospital suggested that fibrin glue had migrated superiorly into the subarachnoid space from the sacral cyst to the level of L-4. On admission to the authors' institution, physical examination demonstrated no abnormal findings except for perianal hypesthesia. An MRI study obtained at admission demonstrated a cystic lesion in the peridural space from the level of S-2 to S-4. Inhomogeneous intensity was identified in this region on T2-weighted images. Because the cauda equina and nerve roots appeared to be compressed by the lesion, total cyst excision was performed. The cyst cavity was filled with fluid that resembled CSF, plus gelatinous material. Histopathological examination revealed that the cyst wall was composed of hyaline connective tissue with some calcification. No nervous tissue or ganglion cells were found in the tissue. The gelatinous material was acellular, and appeared to be degenerated fibrin glue. Sacral pain persisted to some extent after surgery. The authors presumed that migrated fibrin glue caused the development of adhesive arachnoiditis. The risk of adhesive arachnoiditis should be considered when this therapy is planned. Communication between a cyst and the subarachnoid space should be confirmed to be sufficiently narrow to prevent the migration of injected fibrin glue.

PMID

24702510 [PubMed - indexed for MEDLINE]

Full text: Atypon

Related Citations

Friday, 15 August 2014

Neurostimulation for pain earlier may be better

Neurostimulation for Pain: Earlier May Be Better

Pauline Anderson

August 14, 2014

Neurostimulation is clinically effective and cost efficient, but it's not being used appropriately in many patients with chronic pain, according to experts in the field who are addressing current gaps related to this treatment modality.

Part of the problem, according to Simon Thomson, MBBS, president, International Neuromodulation Society, and lead consultant, Pain Management Centre, Basildon and Thurrock University Hospital, Essex, United Kingdom, is that some practitioners "tend to have a rather conservative idea about how these patients should be treated and they tend to over vex about any potential complications."

The result, he told Medscape Medical News, is that "some people are just left to lead their lives with intolerably disabling pain and it doesn't have to be like that."

The INS convened 60 neurostimulation experts from around the world to evaluate the current literature and to form expert opinion on appropriate use of neurostimulation in chronic pain. The researchers identified deficiencies in evidence related to their use and to address these gaps, they initiated a discussion on related issues which appears in 4 new articles.

The papers were published in the August 2014 issue of Neuromodulation.

Clear Deficiencies

These papers broach the topics of the appropriate use of neurostimulation of the spinal cord and peripheral nervous system and of the intracranial and extracranial space and head, avoiding and treating related complications, as well as new and evolving neurostimulation therapies.

Dr. Simon Thomson

Implantable technologies include traditional dorsal column stimulation or spinal cord stimulation (SCS), peripheral nerve stimulation (PNS), peripheral nerve field stimulation, deep brain stimulation (DBS), and motor cortex stimulation. Stimulation systems typically have 3 parts: electrical leads, an impulse generator, and a patient controller.

Researchers initially searched EMBASE, MEDLINE, the Cochrane database, peer-reviewed nonindexed journals, and materials presented at national and international meetings to identify guideline statements for use of neurostimulation therapies to treat chronic neuropathic pain.

They identified 22 guideline statements, including 13 that were society sponsored, 2 from research foundations, 2 that were government supported, and 1 published as a position statement.

The researchers noted "clear deficiencies" in scope of coverage or evidence synthesis and lack of transparency of funding. "Unfortunately, guidelines are often polarized in favor of, or in opposition to, the reviewed topic, based by the authors' specialty and political affiliations," the authors, led by Timothy R. Deer MD, Center for Pain Relief, Charleston, West Virginia, write.

The reviewers also noted that none of the current guidelines or consensus statements attempts to digest and comment on all currently available modalities of neuromodulation.

Appropriate Use

In the new paper on appropriate use of neurostimulation of the spinal cord and peripheral nervous system, the committee determined that the therapy can be life-changing for many patients.

Members concluded that appropriate neurostimulation is safe and effective in some chronic pain conditions and that technological refinements and clinical evidence will continue to expand its use.

Since its introduction in 1967, SCS has become a well-accepted treatment for chronic pain, the authors noted. It targets the dorsal column of the spinal cord for the relief of pain of neuropathic origin.

Electrical stimulation of the spinal cord is approved by the FDA for chronic painful disorders of the trunk and extremities, such as failed back surgery syndrome, complex regional pain syndrome, and radiculopathy, but it has been used for other neuropathic syndromes, such as traumatic neuropathies,diabetic neuropathy, and postherpetic neuralgia.

According to the authors, evidence for the mechanism of action for electrical stimulation of the spinal cord is "elusive" and "somewhat conflicting."

Recent developments in technology have led to the introduction of a new and potentially advantageous target for SCS — the dorsal root ganglion — which could expand the number of patients with chronic pain who might be candidates for neurostimulation and improve outcomes.

For disorders of the head and neck, the committee said that when possible, extracranial stimulation should be "an earlier option in the treatment algorithm."

"Over time with improved devices and targets, the ability to reduce medications and to improve outcomes will likely be enhanced," they write.

Deep Brain Stimulation

Committee members determined that while intracranial neurostimulation has the potential to help many patients, DBS is limited by its inherent invasiveness and risks.

Although it's a treatment option for movement disorders such as Parkinson's disease or essential tremor, some psychiatric disorders, and possibly Alzheimer's disease in the future, "we should continue to find targets outside the cranium when treating pain, if at all possible," they write.

"We want to always make sure that we do the least invasive but effective treatment," added Dr. Thomson. Aside from using DBS for certain painful conditions, including facial pain due to damaged trigeminal nerves, DBS may not be the best treatment for pain and has not been tested for this in randomized clinical trials, he said.

PNS has proven to be a successful approach to treating migraine and other headache disorders and facial pain despite using devices that are "not ideal or made for the head and neck," said the authors.

Again, the committee recommended that PNS of the extracranial nerves (eg, the occipital nerve) be used earlier in pain treatment, before initiation of long-term, long-acting opioid pain management.

"There is good evidence and proof that this [extracranial stimulation] is helpful in chronic migraine," said Dr. Thomson. "We want to see it positioned firmly within treatment algorithms."

On the other hand, while many patients aren't given the option of neurostimulation until well into their disease management, "we don't want people with a few headaches who have not been tried on a triptan or another simple therapy to be implanted" with a stimulation device to control pain, said Dr. Thomson.

"We are trying to describe thresholds of when this treatment should be made available," he added.

The role of headache specialists is to diagnose the type of headache, make sure the patient is prescribed a series of pharmacologic agents, and if that fails (which occurs in some patients), to make sure that extracranial neurostimulation is available, he added.

"Occipital nerve stimulation is the best treatment for migraine that is refractory to regular treatment and is severe and disabling, so we use this when people's lives are intolerable."

Complications

In the paper on complications, the reviewers said that SCS and PNS can result in a range of hardware-related adverse effects, in many cases involving the lead.

"Lead breakage and lead migration would be the Achilles heel of spinal cord stimulation," said Dr. Thomson. "But a lot of effort has gone into improving the durability of the leads, and improving anchors which usually grip the lead and keep it in place."

Biological complications can include infection, and serious adverse effects can include neurologic damage. "The one we are all worried about is epidural hematoma causing neurological harm," said Dr. Thomson, adding that this is "very, very rare."

Although rare, such complications are more common if the practitioner or surgeon is inexperienced. It does happen, though, that practitioners with very little training do SCS or PNS procedures.

"These are the people who basically bring the technique into disrepute," said Dr. Thomson. "That's why we are trying to talk about standards of training."

The expert panel recommended that implanters have hospital-admission privileges, perform at least 10 supervised implantations during training, monitor their outcomes and quality indicators, and perform a high volume of implant procedures to keep their skills up-to-date.

They would also like to see all permanent implants be performed in a full medical facility rather than an office or clinic setting unless it meets the same sterile-environment standards as an accredited hospital or surgery center.

Exciting Work

In the paper on new and evolving therapies, the reviewers cited some "exciting" work coming down the pipeline. One development gaining attention is an external stimulator that can be passed over the vagal nerve, said Dr. Thomson.

"A patient picks up their device like an iPhone, puts it under the chin or neck and can stimulate the nerve, or they might wear a wraparound ear piece" and stimulate the vagal nerve near the ear drum.

Implantable devices are likely to become smaller, too. "There's 1 new device which is essentially just a lead where all the electronics are within it," said Dr. Thomson.

In addition to smaller components, including tinier batteries, new technologies may include nerve response feedback capabilities and improved materials. Dr. Thomson foresees ceramic replacing titanium to house the implantable pulse generators, a move that would make recharging the device less cumbersome.

Reviewers said they feel the need to focus not only on improving products in relation to safety, simplicity, and costs but also to focus on impacting disease states. They said that they're "encouraged" by the possible use of stimulation to correct abnormal function of the immune system.

On the issue of cost, Dr. Thomson said the evidence shows that when compared to usual care (eg, drugs, counseling, physiotherapy), neurostimulation may require more of an initial investment but over time, proves to be "strongly cost effective."

Although the reviewers suggested that future studies choose a "comparator" based on "usual care," they recognized that this can differ; for example, the comparator is repeat back surgery for failed back surgery syndrome in North America but not in some European countries.

"There is often a poor consensus on choice of comparator with marked variation from one health-care system to another," they note.

Good-quality clinical science in this field is moving quickly — and finally getting funded — and Dr. Thomson sees this as "incredibly important" step. "The historical lack of clinical rigor and clinical studies has held this field back," he said.

As the field of neurostimulation is changing so rapidly, the research team plans to revisit these issues every 2 years, said Dr. Thomson.

Dr. Thomson reports he consults for Axonics, for British Standards of Industry, and for Boston Scientific. Dr. Deer reports that he holds minor stock options in Bioness Inc, Spinal Modulation Inc, and Nevro Corp. He is a paid consultant for St. Jude Medical Inc, Spinal Modulation Inc, Bioness Inc, Nevro Corp, and Medtronic Inc. He has patent relationships with Bioness Inc and Nevro Corp. He is an advisor for St. Jude Medical Inc, Medtronic Inc, Spinal Modulation Inc, Bioness Inc, Nevro Corp, Flowonix Medical Inc, and Jazz Pharmaceuticals PLC.

Friday, 25 July 2014

Beacon of hope for rare disease patients

July 17, 2014 by Dara Gantly Leave a Comment

At the launch of the National Rare Disease Plan for Ireland was former Health Minister Dr James Reilly, TD; with Eibhlin Mulroe, CEO, IPPOSI; Avril Daly, CEO, Fighting Blindness; and rare disease patient Jamie O’Reilly

Dara Gantly examines what the long-awaited National Rare Disease Plan promises for the estimated 270,000 to 380,000 people in Ireland with a rare condition, who are often denied diagnosis, treatment and the benefits of research.

After months of being “very close” to seeing the new National Rare Disease Plan for Ireland 2014-2018 published, then Minister for Health Dr James Reilly finally launched the report on July 3 at the RCPI. In short, it promises to enhance access to orphan drugs and technologies, respond to the needs of patients and their carers, and address research gaps.

Minister Reilly believed the significance of the plan could not be overstated because it provided a roadmap — one very much based on an EU template — for the prevention, diagnosis and treatment of rare diseases.

The key recommendations of the Rare Disease Plan include the creation of both a Clinical Care Programme and a National Office for Rare Diseases. A designated Clinical Care Programme will improve specialist services and allow for the development of a joined-up model of care for patients, said the Minister.

“Meanwhile, the principal functions proposed for the National Rare Diseases Office include the identification of Centres of Expertise (CoEs) for various rare diseases, providing a helpline function for patients and families, and the surveillance of national rare diseases,” he added.

These CoEs will provide expert care for rare disease patients, bringing together and co-ordinating multi-disciplinary competencies and skills in order to service the specific medical, rehabilitation and palliative needs of rare diseases patients.

The centres will also provide education and training to healthcare professionals from all disciplines and provide accessible information adapted to the specific needs of patients and their families and of health and social professionals in collaboration with patient organisations.

The next step
All agree now that the next step is for the document to be incorporated into the HSE service plan for 2015. Welcoming the document, Philip Watt, Chairman of the Rare Disease Taskforce — which is made up of leading patient groups in Ireland in this area — said it offered a “beacon of hope” for the thousands of people in Ireland who are born with or who acquire a rare disease.

Rare diseases are those conditions that affect fewer than five people in 10,000, but there are so many kinds of rare diseases (between 6,000 and 7,000 identified to date) that having a rare disease is not in itself rare. It is estimated that between 6 and 8 per cent of the European population will have a rare disease in their lifetime, which equates to between 270,000 and 380,000 people in Ireland — although the precise number here with a rare disease is unknown.

Thus, among the first recommendations of the plan are moves to produce guidelines on coding and recording of rare diseases within relevant Irish health data systems that are consistent at European and global level. It is envisaged that HIQA will have a role to play in this, given its functions regarding information standards.

The plan also pledges that the Department of Health and HSE will put in place, over the five years of the strategy, a coherent system to conduct broad epidemiological surveillance of rare disease. This epidemiological surveillance should include profiling of rare diseases among high-risk cultural and ethnic minority groups for the purposes of appropriate neonatal screening and improving diagnosis and outcomes.

Newborn screeningThe plan suggested that the HSE Governance Committee/Group on Newborn Screening within the Integrated Services Directorate be expanded to include a patients’ advocate. The Committee should consider the population benefits of newborn screening, including whether programmes need to be expanded or modified, and the need for carrier screening. The Department of Health should provide a policy framework for population-based screening programmes.

Hawkins House should also consider addressing the need for a review of legislation that indirectly impinges on the Newborn Bloodspot Screening Programme.

Rare disease patients are sometimes described as the ‘orphans’ of the health systems, often denied diagnosis, treatment and the benefits of research. But the new plan wants to put this right.

Since about 80 per cent of rare diseases are genetic in origin, effective genetic services have a vital role to play in relation to diagnosis. But the plan accepts there are challenges here.

The National Centre for Medical Genetics (NCMG) at Our Lady’s Children’s Hospital, Crumlin, provides diagnosis and genetic counselling for all genetic rare diseases referred to it. The Centre processes approximately 13,000 cytogenetic and molecular genetic tests each year and tests for 19 specific gene defects. When a genetic test is not available from a laboratory in Ireland but is clinically indicated, DNA samples are sent to specialised laboratories abroad (with 740 ‘send out’ tests listed in the NCMG database).

The Rare Disease Plan acknowledges that considerable staffing and funding challenges have occurred in recent years. A report submitted in late 2012 to the Clinical Leads in Paediatrics indicated a waiting time of 12-24 months for referral to the NCMG. Long waiting times also impact on, for example, immediate access for linked programmes such as the National Centre for Inherited Metabolic Disorders (NCIMD). It is important that genetic counselling also be offered to and provided for those individuals and families that require it and would benefit by it, the national plan adds.

Staff shortagesHowever, as mentioned, although the NCMG aims to promote services in a clinically appropriate manner, a considerable challenge persists in terms of under-resourcing of clinical staff, the report adds. The Royal College of Physicians UK recommends a minimum of three consultant geneticists per million population and the Association of Genetic Nurse and Counsellors UK (AGNC) recommends one full-time genetic counsellor per 100,000 population. Applying these ratios to the Irish (RoI) population would imply a total of 14 WTE consultants and 46 genetic counsellors (NCMG, 2010).

The Northern Ireland Genetics Service has 6.5 WTE consultants, one trainee registrar, 6.5 WTE genetic counsellors and one WTE family history nurse for a population one-third the size of the Republic.

“Ireland has the lowest population ratio of genetics staff of 10 European countries studied (see here),” the report notes. Indeed, as of October 2013, Ireland had one clinical consultant per 1,150,000 of its population.

Waiting times are also an issue for patients seeking expertise once diagnosed. Responses from a consultation exercise carried out suggested that between one-in-four and one-in-five of rare disease patients waits over a year for assessment by an appropriate rare disease specialist. Respondents felt that an appointment with a specialist should follow within three months of referral by a GP.

Residential respite care should also be made available for children with rare diseases, the plan also recommends, including in-patient hospice beds and hospice-at-home teams.

Orphan drugsIn terms of access to drugs, the HSE is to develop a Working Group to bring forward appropriate decision criteria for the reimbursement of orphan medicines and technologies. The approach should include an assessment system similar to that for cancer therapies established under the National Cancer Control Programme and link with the CAVOMP at European level.

At present, orphan drugs and technologies are assessed through the same mechanism as all other drugs and technologies. In 2012, industry and the State agreed that they would accept a cost-effectiveness threshold of €45,000 per quality-adjusted life-year in the health technology assessment process. It was also agreed that ‘exceptional’ products that failed to satisfy the €45,000 threshold could be processed subject to meaningful discussions between the HSE, Department of Health, relevant clinicians and the relevant marketing authorisation holder.

Health technology assessments are commissioned and carried out by the National Centre for Pharmacoeconomics (NCPE) and the Centre facilitates meaningful discussions through IPPOSI — the Irish Platform for Patients’ Organisations Science & Industry — with patients’ representatives where the relevant orphan medicinal products under review are viewed ‘exceptional’.

The rare disease plan says it is possible to argue that having the same system for assessment ensures decisions around pricing and reimbursement of orphan medicines are not made without first considering the potential for non-provision of other services to patients with rare diseases or services to other patients.

However, it is also possible to argue that assessing orphan medicines in the same way as other medicines may disadvantage them.

“It is argued by some stakeholders that the price of an orphan drug is set by a manufacturer to recoup research and development costs and attain a profit margin,” the document states. Thus, the plan believes the assessment and reimbursement process of orphan drugs may need to be tailored to the specific issues surrounding rare diseases.

The HSE will thus undertake a preliminary economic evaluation of current activity and costs for orphan medicine and technologies for rare disease patients across all hospital settings. It also wants applications for the use of orphan medicines and technologies in hospitals to be dealt with in the context of a national budget, rather than through individual hospital budgets.

EU linksMuch of the impetus for these changes has come from Europe. In 2008, the EU Commission adopted a Communication on Rare Diseases, followed in 2009 by a Council Recommendation. Both seek to improve recognition and visibility of rare diseases and develop European cooperation, coordination and regulation for rare diseases.

The recommendation called upon Member States to adopt national plans or strategies for rare diseases by the end of 2013 in order to ensure universal access to high-quality care for all patients.

Technical assistance and training tools to help EU countries create these national plans has been developed thanks to the EUROPLAN Project and Joint Action co-financed by the Commission’s Health Programme.

In his foreword in the plan, Minister Reilly reiterated that the policy framework envisaged a combined approach within the EU to diagnose and treat people with rare diseases. “We must deepen links with facilities and institutions in other countries where specialist services are available that may be absent in Ireland,” he noted.

Gathering expertise at European level is paramount in order to ensure “equal access to accurate information, appropriate and timely diagnosis and high-quality care for rare disease patients”, the plan goes on to note.

The National Clinical Programme for Rare Disease through the National Office for Rare Diseases will develop the clinical and organisational governance framework that will underpin care pathways and access to treatment for rare disease patients, particularly in the context of the transition from paediatric care to adult care.

While healthcare pathways may be well defined in Ireland for some rare disorders (e.g. hereditary coagulation disorders), through well established CoEs, for many conditions and for ultra-rare disorders, the plan accepts that there may not be sufficient local expertise in Ireland. “For such situations, the development and use of European Reference Networks (ERNs) is particularly relevant,” it notes.

At EU level, the Directive on Patients’ Rights in Cross-Border Healthcare will also influence the implementation of Ireland’s National Rare Disease Plan in coming years, the document states.

Funding issuesAs with any plan published in recent years, the economic realities of 21st-Century Ireland will have an impact on the implementation of the rare disease strategy. In this regard, the rare disease plan pledges that the present budgetary environment shall be “explored” to “identify and exploit” all opportunities for progressing this national plan as the future platform to address the care and treatment of people with rare diseases.

“The service planning mechanism provides an accountability framework with respect to the delivery of health services. Rare disease management programmes should be specified within the HSE Service Plan mechanism,” it states.

And looking further forward, there will be an overall review of the National Rare Disease Plan prior to development of the next plan in 2019. Forward thinking indeed on an area of care that too often in the past was not given a second thought.

Irish Healthcare; Is It Caring for Rare Disease?

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Saturday, 22 November 2014