Do I want to go hiking with you? Yes. But the bigger question is, “Can I?” Will the path be steep? Is it narrow? Is it rocky? You see, these things scare me and make it difficult for me to attempt to hike, even if I truly want to join you (and I usually do).

I know, looking at me, you might not even realize there is a problem. Then I get up and walk. That’s when you see the awkward, unbalanced gait, the slight limp, and the foot drop.

Now you realize that something is not exactly right.

  • You might even what to ask. But you don’t.
  • You might feel sorry for me. Please don’t.
  • You might want to help. I am getting better at accepting that.
  • You might wonder what happened to cause me to have such a funny gait. Nothing “happened.” I was born this way.

Growing up with Charcot-Marie-Tooth disease (CMT), my parents tried to never let it hold me back. I was even in dance until I had back surgery to correct my scoliosis. According to a study in the The Journal of Bone and Joint Surgery, scoliosis is present in one-third of CMT patients. I have a stainless steel rod from the base of my neck to the base of my spine to remedy this. Because of that, certain things are more difficult, but my parents taught me to do the best I can.

Thankfully, I have friends who understand my limitations. They know that it’s not that I don’t want to go to the ball game, it is just the thought of those steep, scary steps that keep me away. They also understand that I need to use my cane when walking great distances or on uneven surfaces.

What they don’t understand is how CMT makes me feel. I don’t tell them that it makes me feel helpless when I can’t walk up the steep staircase without assistance, or when I can’t get into the pool without a railing to hold. They do not need to know how it saddens me that I cannot run and play with my son. (He understands, but it still makes me sad.)

My friends might not know how much CMT impacts my life, and that’s because I do not think they need to know. They are supportive and helpful and know that when I cannot do something, I truly can’t. I don’t use my disability as an excuse. I just live life to the best of my ability while dealing with limitations. So instead of taking the 3-mile hiking trail, I opt for the 1-mile trail. Instead of going nonstop all day, I set aside rest time that I know I will need.

So, when you ask if I want to go somewhere and I hesitate, please know it is not that I do not want to go. It is just that I need to weigh the pros and cons of the suggested activity. I do not want to hold you up or slow you down. I know in my heart that my friends probably won’t mind, but convincing my brain of that is not always easy. I ask for your understanding and support as I navigate the progression of this crazy disorder and its unknown aspects. Most of all, I want you to know how much I treasure your love and support.


Note: Charcot-Marie-Tooth News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of Charcot-Marie-Tooth News or its parent company, BioNews Services, and are intended to spark discussion about issues pertaining to Charcot-Marie-Tooth.

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Curving of the spine often appears during the preteen years

If you’re wondering about an unusual curve or slight twist of your child’s back or spine, you may think it’s nothing to worry about as long as he or she isn’t in pain. However, when it comes to scoliosis, which is an abnormal spine curvature, back pain isn’t usually a symptom.

So how can you tell if your child has scoliosis?

Pediatric orthopedic surgeon David Gurd, MD, explains what signs parents should watch for, and when the condition most commonly occurs.

Scoliosis basics

Scoliosis, a sideways curvature of the spine that also includes rotation, is common — it affects about 7 million people in the United States. The condition often shows up in the preteen years.

“Scoliosis can occur at any age, but about 80 percent happens around ages 11 to 13,” Dr. Gurd says.

The exact cause is unknown, but genetics likely plays a role, he says. Contrary to popular belief, the condition affects boys and girls equally. But girls are more likely to have severe cases, he says.

Signs your child might have scoliosis

When it comes to identifying scoliosis, there are two main signs parents should watch for.

1. Uneven elevation of the shoulders

Your child might have scoliosis if one shoulder looks higher than the other when she stands up straight, Dr. Gurd says.

“Girls might notice if they are wearing a dress or tank top that the straps appear uneven,” he says.

2. Uneven waistline

If your child’s waistline is not level or appears uneven or tilted when he is standing up straight, your child may have scoliosis.

What to do if you suspect scoliosis

If you suspect your child has scoliosis, make an appointment to discuss your concerns with your pediatrician.

Your child’s physician will likely do a “forward bend” test to look closely for signs of the condition. You can have your child try the experiment at home if you suspect a problem.

Here’s how it works:

  1. Have your child stand up straight, keeping her knees straight.
  2. Have her bend down at the waist, bringing the forehead into the belly button and trying to roll the back forward while bending.

“If your child has scoliosis, when you have them do the forward bend test, you’re going to see that one side of the ribs — typically the right side — looks higher compared to the other,” Dr. Gurd says.

If your pediatrician sees signs of scoliosis, he or she will order an X-ray that will help measure the curvature to determine the condition’s severity.

What to expect after a scoliosis diagnosis

“One question I’m often asked is, ‘What’s the chance of my child’s scoliosis progressing?’ ” Dr. Gurd says. “And the answer is, the younger your child is at diagnosis, the more growth that remains and the greater the risk of curvature progression.”

Also, children who have a larger curve at a young age have a higher chance of progression, he says.

Treatment options can range from observation to bracing to surgery. The choice depends on:

  • How severe the curve is
  • Your child’s age at diagnosis
  • How much growing he still has left to do

Exercises that stretch and strengthen the core, such as yoga, can also help your child manage the condition, Dr. Gurd says.


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Doctors are encouraging parents to better understand the mental health risks associated with children and adolescents diagnosed with scoliosis.

In addition to physical pain and discomfort, having an abnormality like scoliosis at a sensitive age can take an emotional toll. Some effects of scoliosis include relationship issues, low self-esteem and social withdrawal. Having an abnormality during formative years like adolescence can leave a patient feeling singled out because of outward appearances.

Around one in 25 adolescent girls and one in 200 teenage boys develop scoliosis, a condition that can develop due to abnormal growth, bodily injury or as a complication of cerebral palsy, muscular dystrophy, and other central nervous system disorders.“Visible disfigurement caused by scoliosis can have a profound psychological impact on an individual, especially children and teens, which is why it is so important for parents to act quickly and provide proper emotional support before, during and after treatment,” said Dr. David Siambanes, director of the Children’s Scoliosis Center at St. Joseph’s Children’s Hospital in Tampa.

In 2015, the CDC calculated teenage suicide among boys had increased by about 30 percent since the mid-2000s, while the suicide rate for teenage girls has hit a 40-year high. With the recent spike in teenage suicide, medical professionals are giving increased attention to the emotional effects of scoliosis and how to cope.

According to Siambanes, parents need to convey the importance of following the doctor’s orders while remaining sensitive to the impact scoliosis can inflict on a young person’s self-identity and self-confidence.

“Scoliosis can cause a lot of distress and confusion for young people. These emotions need to be addressed as part of the healing process,” said Siambanes. “Speak with your child’s doctor about the best strategies for them and if resources like scoliosis support groups could be beneficial.”

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Miss Ghana Foundation, the charity wing of Miss Ghana organization, has donated $5,000 to Foundation of Orthopaedics and Complex Spine (FOCOS) Hospital to support the surgery of 13-year-old Gifty Amuzu, who is  suffering scoliosis.

Scoliosis is a life-threatening medical condition in which one’s spine curves. The curve is usually S or C shaped. A severe scoliosis case interferes with breathing.

The donation is a first installment to commence surgical procedure for the teenager, out of a total cost of $15,000.

Gifty Amuzu currently requires an urgent surgery to save her life or she will be paralysed.

She was diagnosed about five years ago while in primary school but all efforts by her mother to curb this deformity proved futile.

Currently, Gifty has dropped out of school due to the intense pain in the back which causes her to lose concentration in class. She is unable to sit, stand or walk for long periods and also cannot perform simple house chores. She also feels stigmatised, sad and often isolates herself in social gatherings.

Gifty Amuzu enjoys singing and aspires to become a soldier in future.

She caught the eye of the Miss Ghana Foundation recently when the foundation’s current ambassadors, Miss Ghana 2017 Margaret Dery and runners-up Priscilla Gameli and Marigold Frimpong, visited the FOCOS Hospital as part of the Miss Ghana Foundation’s charity plans for the year.

Presenting the donation, Chairperson of the Miss Ghana Foundation, Ms Inna Patty, reiterated that Miss Ghana Foundation is passionate about health, especially that of less-privileged children.

She commended the queens for their efforts and appealed for more support to complete the surgery by the end of February 2018.

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January 9, 2018  The U.S. Preventive Services Task Force released today a final recommendation statement on screening for adolescent idiopathic scoliosis. The Task Force found insufficient evidence to recommend for or against screening for idiopathic scoliosis in children and adolescents ages 10 to 18 years who do not have any signs or symptoms. To view the recommendation and the evidence on which it is based, please go to The final recommendation statement can also be found in the January 9, 2018 online issue ofJAMA.

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Fort Collins, CO, Nov. 07, 2017 (GLOBE NEWSWIRE) — Fort Collins-based startup company Green Sun Medical was awarded the top prize of a $50,000 grant during the Fifth Annual Pediatric Device Innovation Symposium, which is an FDA-sponsored pediatric medical device competition in San Jose, Calif. organized by the Sheikh Zayed Institute for Pediatric Surgical Innovation at Children’s National Health System.

Green Sun Medical is developing a dynamic scoliosis brace that applies continuous corrective pressure and allows physicians to remotely monitor the performance of their patients. Current treatments for scoliosis include spinal fusion surgeries, and braces developed over 40 years ago.

Green Sun Medical is a graduate company of Colorado’s high-tech incubator, Innosphere, and is also a tenant of Innosphere’s Fort Collins building. “Green Sun Medical’s tech-­enabled spinal brace is an innovation that addresses an unmet need in today’s healthcare space,” said Mike Freeman, Innosphere CEO. “The company has a very talented team that’s dedicated to addressing this critical need for patients around the world.”

“We are honored to have our scoliosis brace recognized with these other pediatric device innovations,” said Jamie Haggard, CEO of Green Sun Medical.  The Western Colorado State University graduate said this grant will help fund the pilot study that will begin this winter at the National Scoliosis Center.

The pitch competition which Green Sun Medical won was sponsored by the National Capital Consortium for Pediatric Device Innovation (NCC-PDI), an FDA-funded consortium led by Children’s National and the A. James Clark School of Engineering at the University of Maryland. The competition was part of the annual symposium to foster innovation that will advance pediatric healthcare and address the unmet surgical and medical device needs for children.

“Our heartfelt congratulations to Green Sun Medical who was selected from a highly competitive field of worthy devices,” said Kolaleh Eskandanian, Ph.D., executive director of the Sheikh Zayed Institute and NCC-PDI. “In our role as a catalyst for pediatric innovation, we see this as the beginning of our relationship with Green Sun Medical.” In addition to financial support, awardees will have access to consultation services for all phases of  pediatric device development – from ideation through marketing – to help them get their devices to market faster.

During the competition, 12 finalists had five minutes to present their proposal to the judging panel, which included: Susan Alpert, M.D., of SFA Consulting, a former director of the FDA Office of Device Evaluation and former senior vice president and chief regulatory officer of Medtronic; Charles Berul, M.D., of Children’s National; Andrew Elbardissi, M.D., of Deerfield Management; Rick Greenwald, Ph.D., of the New England Pediatric Device Consortium (NEPDC); James Love, J.D., of Oblon; Josh Makower, M.D., of NEA; Jennifer McCaney, Ph.D., of MedTech Innovator; Jackie Phillips, M.D., of Johnson & Johnson; and Tracy Warren of Astarte Ventures.

This competition was created to foster innovation in the pediatric device sector, which continues to lag behind adult device development and creates a host of challenges for doctors when treating children. Since inception in 2013, NCC-PDI has supported 67 pediatric devices and the companies and research labs owning these devices have collectively raised $55 million in additional funding.

To learn more about Green Sun Medical visit


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O’CONNOR, Attorney Jeremiah V. In Malden, formerly of Dorchester, November 13th. Beloved son of the
late Patrick J. and Mary C. (Tobin) O’Connor. Loving twin brother of Catherine M. and her husband William
J. Murphy of Quincy, and the late Patrick J. O’Connor. Devoted uncle of Andrea Keane, Sheila
Chamberlain, Shawn Murphy, Maureen Murphy Narbonne, Christopher O’Connor, all of Quincy, Thomas
O’Connor of Norwell, Judy O’Connor of Quincy, and the late Karin Murphy. Survived by many grandnieces
and grandnephews. Visiting hours in the Murphy Funeral Home, 1020 Dorchester Ave., DORCHESTER,
Thursday 4-8 P.M. Funeral Mass in the Basilica of Our Lady of Perpetual Help, Mission Church, 1545 Tremont St.,
Mission Hill, Friday morning, November 17, at 10 A.M. Interment in Bourne National Cemetery at 1 P.M. Relatives and
friends invited. Jerry was an attorney for the Boston Municipal Juvenile Court. He served as a medic in the U.S. Army
during the Vietnam War. He was an active member of the National Scoliosis Foundation, involved in numerous political
campaigns, and attended and supported many charity events throughout Boston. He was also active with the Jesuit
Urban Center and St. Cecilia’s Parish for over 35 years. Jerry especially enjoyed spending time with his family,
discussing current events, and was always prepared with a witty comment, showing his great sense of humor.  For further details, go to


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NEWS PROVIDED BY Shriners Hospitals For Children Nov 02, 2017, 07:00 ET
Unique collaboration between Shriners Hospitals for Children – Canada, CHU Sainte-Justine and McGill University leads to a publication in The American Journal of Human Genetics

MONTREAL, Nov. 2, 2017 /CNW Telbec/ – “Mutations in fibronectin cause a subtype of spondylometaphyseal dysplasia with ‘corner fractures'” is the title of the article that appears online on November 2, 2017 on the website of The American Journal of Human Genetics and some time later in its printed version.
The adventure began when Amaya’s pediatrician observed that in addition to an abnormal thigh fold, the infant’s hips were not quite aligned. Amaya was referred to Shriners Hospitals for Children – Canada.  Reggie Hamdy, M.D., the hospital’s chief physician, then conducted extensive  examinations, identifying Amaya’s hip deformity and scoliosis. The Shriners team suspected a genetic cause and referred Amaya to Philippe Campeau, M.D., a geneticist specialized in bone diseases, who works at both Canada Shriners Hospitals and CHU Sainte-Justine, to perform genetic tests and ultimately identify the faulty molecular mechanism.

In Dr. Philippe Campeau’s laboratory at CHU Sainte-Justine

Amaya’s medical history and X-rays were compatible with spondylometaphyseal dysplasia (SMD), a medical term that encompasses scoliosis and abnormal growth plates in the bones. Initially Dr. Campeau and his team tested known genes already associated with SMD, but the tests proved negative. “Extensive research then showed that there was a mutation in fibronectin, an important protein found in the blood and in connective tissues such as cartilage,” Dr. Campeau explains. Mutations in fibronectin had previously been found by other researchers in a kidney disease, glomerulopathy, but never in a bone disease. Before identifying the mutation in Amaya’s fibronectin, Dr. Campeau had observed similar fibronectin mutations in other children with the same disease by using exome sequencing (reading 20,000 From left to right: Dr. Philippe Campeau, Mrs. Fraser (mother), Dr. Dieter Reinhardt, Chae Syng (Jason) Lee, Nissan Baratang and little Amaya (CNW…genes). “I have been working for more than three years with Dieter Reinhardt, Ph.D., of McGill University’s Faculty of Medicine and Faculty of Dentistry, to better understand how certain mutations in fibronectin can affect bones.”

In Dr. Dieter Reinhardt’s laboratory at McGill University

Dr. Reinhardt’s lab studies extracellular matrix proteins, how they function together with cells, and the negative consequences of genetic mutations. “Dr. Campeau asked me if we could try to understand the cellular mechanism of these mutations in fibronectin, which is normally an organizer of the extracellular matrix. That’s when we became equal partners in this research project. The Quebec network “Réseau de recherche en santé buccodentaire et osseuse” immediately provided team funding for this new emerging project” says Dr. Reinhardt. “We then selected three mutations of the seven identified in different patients.” Our work has clearly shown that the studied mutations prevent the secretion of fibronectin from cells. This work was performed by Chae Syng (Jason) Lee, Research Assistant in Dr. Reinhardt’s lab, assisted by He Fu, then a postdoctoral fellow in Dr. Campeau’s lab. Our current hypothesis is that blockage of fibronectin secretion occurs in cartilage cells (especially growth plates) and consequently prevents normal bone growth.

The importance of studying rare genetic mutations

The publication of these two teams’ research results in The American Journal of Human Genetics is important for the following reasons. In addition to discovery and scientific advancement, it concerns a genetic disease that, though rare, is a risk for recurrence in future generations. Knowing that Amaya and other affected individuals might one day want to have children makes identifying the responsible gene important. For now, twelve families around the world are identified with this disease. In the years to come there will certainly be many more families recognized, guided by the publication of the findings of Drs. Campeau and Reinhardt. Knowing the affected gene, it is now possible to understand how the mutation
leads to the disease and how to eventually arrive at the therapeutic stage within a few years. Dr. Campeau’s student, Nissan Baratang, is working on developing experimental models of this disease with that idea in mind. This discovery will also have broader spin-off effects beyond SMD and understanding the role of fibronectin in cartilage: Dr. Campeau and Dr. Reinhardt, in collaboration with Dr. Florina Moldovan of CHUSJ, and Stefan Parent, orthopedic surgeon at CHUSJ and Shriners Hospitals for Children – Canada, have also found mutations in fibronectin in families with another more common bone-related disorder.

About Shriners Hospital for Children – Canada

Established in Montreal in 1925, Shriners Hospitals for Children – Canada is the only Canadian institution within the network of 22 Shriners hospitals. As a bilingual hospital, it offers short-term ultra-specialized orthopedic care to children in Canada, the United States and the world. Infants, children and young adults with orthopedic and neuromuscular problems such as scoliosis, osteogenesis imperfecta, club foot, hip dysplasia and cerebral palsy benefit from the expertise of our medical teams in treatment and rehabilitation.  Affiliated with McGill University, the hospital has a Simulation Center and a Motion Analysis Center to spur excellence and innovation in care, teaching and research. Residents and health professionals take advantage of our hospital to complete their training and experience. Besides providing a patient- and-family-centered care environment, the hospital, through telemedicine, outreach clinics and satellite clinics, is present in communities across Canada. Recognized as a health promoting institution, Shriners Hospitals for Children – Canada has been helping children reach their full potential.

About the CHU Sainte-Justine Research Center

CHU Sainte-Justine Research Center is a leading mother-child research institution affiliated with Université de Montréal. It brings together more than 200 research investigators, including over 90 clinician-scientists, as well as 450 graduate and postgraduate students focused on finding innovative prevention means, faster and less invasive treatments, as well as personalized approaches to medicine.  The Center is part of CHU Sainte-Justine, which is the largest mother-child center in Canada and second pediatric center in North America. More on

About McGill University

Founded in Montreal, Quebec, in 1821, McGill is a leading Canadian post-secondary institution. It has two campuses, 11 faculties, 11 professional schools, 300 programs of study and some 40,000 students, including more than 9,400 graduate students. McGill attracts students from nearly 150 countries around the world, its 10,900 international students making up 27% per cent of the student body. Over half of McGill students claim a first language other than English, including approximately 20% of our students who say French is their mother tongue.

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By Greg Cergol

On Long Island a mother is heartbroken after her son committed suicide. She says he was relentlessly bullied at school. Greg Cergol reports.

A Long Island mother says she never realized how bad her son was bullied by kids at school until it was too late.

Angie Collazo said her 17-year-old son Angelo, who suffers from scoliosis, took his own life last week and she blames vicious bullying throughout his life as the reason for his death.

“He was bullied so bad that he felt his only option was to end his own life,” Collazo said. “Children used to punch him, kick him. They tortured him. That’s exactly what these children did. They tortured him.”

Collazo said the bullying began when Angelo was 10 years old, right around the time he started wearing a brace for his scoliosis. The teasing followed Angelo all the way to Hicksville High School, where Collazo said she made multiple complaints to school officials to stop the relentless bullying.

She claims the school didn’t do enough to stop Angelo from being bullied and says she spoke to his guidance counselor about it just three days before his death.

“I absolutely blame the school,” Collazo said. “They should have done more prior to this. My son did not deserve this at all.”

Hicksville Schools didn’t confirm any bullying.

“We extended our sincere condolences to the individual’s family and friends,” the school said in a statement to NBC 4 New York. “Our Crisis Intervention Team has been activated and support services will be available as needed.”

After Angelo’s death, Collazo says she found a journal documenting all he endured. She said Angelo went to counseling before his death, but it wasn’t enough to help to save his life. She is now urging parents to sit down with their children and talk to them about the impacts bullying can have.

“He ended his life because of the pain that he was in and he just wanted it to end,” she said. “He wanted them to stop.”

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17 October 2017

From the sectionHealth

Patients in Northern Ireland are waiting three years to see a consultant about having surgery following a GP referral.

The BBC has obtained exclusive figures showing long waiting times before a decision to operate.

In Northern Ireland, targets say most patients should be seen within 9 weeks and none should wait over 15 weeks.

Yet some patients are waiting 155 weeks or more to see a specialist for spinal conditions.

A spokesman for the Health and Social Care board said it was ‘unacceptable’ that waiting lists had grown so long.

Longer and longer waits

The health service has not met the targets for several years.

Figures obtained by Freedom of Information requests in April this year and seen by the BBC show that in one of Northern Ireland’s five healthcare trusts, the minimum waiting time for an appointment with an orthopaedic consultant specialising in spinal conditions was 155 weeks.

For upper limb conditions, the minimum wait was 127 weeks.

By June, waits for spinal appointments at the same trust had risen to 159 weeks.

Megan’s story

Megan Fleming, who is 14 years old, needs an urgent operation to correct a curvature, or scoliosis, of her spine.

Her health is deteriorating fast, and she has trouble breathing. Despite her condition, the teenager from Carrickfergus continues to go to dance classes, but says her future is on hold until her operation, which surgeons have told her will be a year away.

Her mother Karen said: “Megan loves dancing. It’s just her life at the minute. She just wants to dance.

“But at the minute she needs the surgery to help her. You could see the consultant was absolutely gutted and you could see it was hurting to say a year, but it’s out of his control.

“I’ve paid taxes, I’ve paid national insurance. So why can’t I get the surgery that she deserves?”

Megan and Karen are now trying to raise the £50,000 that her surgery will cost privately, fearing that the long wait will put Megan’s long-term health at risk.

Dr Ursula Brennan, a GP in Belfast, said that seeking private healthcare was a decision more and more patients were having to make in the current climate.

“You’re going to have to wait, and it may be several months. It may be into 52 weeks, or 80 weeks, or beyond.

“It’s very difficult to turn this conversation to – and these are our elderly folk – that you may have to use your life savings to actually improve your quality of life.”

When asked about the long waits, which are far higher than in other parts of the UK, the deputy chief executive of the Health and Social Care Board, Michael Bloomfield, said: “That is absolutely unacceptable, and that’s why we need to clearly illustrate the need for reform.

“There are about 35,000 more surgical procedures required than the health service currently has capacity for.

“Without the additional funding to see those patients or have them treated in different ways, it is regrettably inevitable that waiting times will increase to the position that they are now in.”

Political vacuum

The political commentator Deirdre Heenan is working on a report with the Nuffield Trust into the emerging healthcare crisis in Northern Ireland.

She said: “In the last nine months we’ve had no government in Northern Ireland. We’re in a political vacuum.

“This system reverts to keeping the show on the road, and any ideas about transformation or change are simply mothballed.”

In a blog co-authored with health economist John Appleby, she writes: “There is a difficult backdrop: austerity, increasing demand, rising expectations, and political uncertainty.

“It is not clear that the public are in a position to call for change. They may not have good information about how well the service meets their needs, and have not necessarily been made part of the long conversations about change, which as a result can sound like it brings bad news.

“But the impact on patients of the current impasse in implementing necessary changes is stark. In June this year, for example, one in six of the entire Northern Ireland population was currently on an outpatient or inpatient waiting list. In England the figure is one in 14.

“And over 64,000 people had been waiting over a year for their first outpatient appointment – a quarter of all those on the waiting list. In England, by contrast, around 1,500 people were still waiting over a year – just 2 per cent of the number in Northern Ireland for a population over 30 times larger.”

On Wednesday, the BBC will be publishing its NHS tracker, which allows users to look at how their local hospitals are performing on waiting times for A&E, cancer and planned operations.


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