CLSF News 

Cervical Spinal Stenosis

Complications associated with CLS

The spinal cord is a column of nerve tissue protected by a bony tube in the spinal column. Conditions that narrow the space in this tube put the spinal cord at risk of getting squeezed. This narrowing in the spinal column is called spinal stenosis. Spinal stenosis can occur anywhere in the spine. When it occurs in the neck, it is called cervical spinal stenosis or just cervical stenosis, and that is the focus of this article.

Pressure against the spinal cord as a result of spinal stenosis causes myelopathy, a condition that demands medical attention. Myelopathy is a term for any condition that affects the spinal cord. Myelopathy can cause problems with the bowels and bladder, change the way you walk, and affect your ability to use your fingers and hands.

The bony spinal canal normally has more than enough room for the spinal cord. Typically, the canal is 17 to 18 millimeters around, slightly less than the size of a penny. Spinal stenosis occurs when the canal narrows to 13 millimeters or less. When the size drops to 10 millimeters, severe symptoms of myelopathy occur, resulting from pressure against the spinal cord and reduced blood supply in the spinal cord as a result of the pressure.

Some people are born with a spinal canal that is narrower than normal. This is called congenital stenosis. They may not feel problems early in life, but having a narrow canal to begin with places them at risk for stenosis. Even a minor neck injury can set them up to have pressure against the spinal cord. People born with a narrow spinal canal often have problems later in life, because the canal tends to become narrower due to the affects of aging. These degenerative changes often involve the formation of bone spurs (small bony projections) that point into the spinal canal and put pressure on the spinal cord. Congenital stenosis is often associated with CLS.

Degeneration is the most common cause of spinal stenosis. Wear and tear on the spine from aging and from repeated stress and strain can cause many problems in the cervical spine. The intervertebral disc can begin to collapse, shrinking the space between vertebrae. (Narrow intervertebral spaces are characteristic of CLS.) Bone spurs may form that protrude into the spinal canal and reduce the space available to the spinal cord. The ligaments that hold the vertebrae together may become thicker and can also push into the spinal canal. All of these conditions narrow the spinal canal. Degeneration occurs earlier than normal in persons with CLS, often as early as the late teenage years, due to the reduced production of collagen necessary for proper bone formation and maintenance.

The changes that happen with degeneration and disc herniation can choke off the blood supply that goes to the spinal cord. The sections of the spinal cord that don't get blood have less oxygen and don't function normally, leading to symptoms of myelopathy.

Cervical stenosis usually develops slowly over a long period of time, however, the progression is more rapid in CLS. Symptoms rarely appear all at once when degeneration is causing the problems. A severe injury or a herniated disc may cause symptoms to come on immediately.

The first sign to appear in some patients is a change in the way they walk. They don't realize this problem is coming from their neck. But pressure on the spinal cord in the neck can affect the nerves and muscles in the legs, leading to changes in the way they walk. Eventually their walking pattern gets jerky and they lose muscle power in the legs. This is called spasticity.

Most patients also have problems in their hands. The main complaint is that their hands start to feel numb. Others feel clumsy when doing fine motor activities like writing or typing. The ability to grip and let go of items becomes difficult because the muscles along the inside edge of the palm and fingers weaken.

Pressure against the spinal cord also creates problems with the bowels and bladder. Mild spinal cord pressure makes you feel like you have to urinate more often. But it also makes it difficult to get urine to flow (urinary hesitancy). Moderate disturbances cause people to have a weak flow of urine, making them dribble urine. They also have to strain during bowel movements. In severe cases, people aren't able to voluntarily control their bladder or bowels. This is called incontinence.

Families of persons with CLS who also have drop episodes should be particularly vigilant for any signs of spinal cord injury. The combination of early bone degeneration, possible congenital spinal stenosis and frequent falls puts these people at particularly high risk for such injuries.

Diagnosis begins with a complete history and physical exam. X-rays are used to look for the cause of pressure against the spinal cord. The images can show if degeneration has caused the space between the vertebrae to collapse and may show if a bone spur is pressing against the spinal cord.

Your doctor may order a magnetic resonance imaging (MRI) scan. The MRI machine uses magnetic waves rather than X-rays to show the soft tissues of the body. This test gives a clear picture of the spinal cord and can show where it is being squeezed. This machine creates pictures that look like slices of the area your doctor is interested in. The test does not require any special dye or a needle.

A computed tomography (CT) scan may also be ordered. The CT scan is a detailed X-ray that lets doctors see slices of bone tissue. The image can show if bone spurs are protruding into the spinal column and taking up space around the spinal cord.

Your doctor may recommend electrical tests of the nerves that go to your arm and hand. An electromyography (EMG) test is used to check if the motor pathway in a nerve is working correctly. Doctors may also order a somatosensory evoked potential (SSEP) test to locate more precisely where the spinal cord is getting squeezed. The SSEP is used to measure whether a nerve is able to get and send sensory information such as pain, temperature, and touch. The function of a nerve may be recorded with an electrode placed over the skin or with a needle that is inserted into the nerve or sensory center of the brain.

Spinal myelopathy is a serious condition. If the condition is causing significant problems or is rapidly getting worse, your doctor may not begin with nonsurgical treatments and instead recommend surgery immediately. If the symptoms are mild, nonsurgical treatment may be tried initially to see if the symptoms improve.

Doctors may suggest immobilizing the neck. Keeping the neck still for a short time can calm inflammation and pain. Patients are instructed to restrict their daily activities by avoiding heavy and repeated motions of the neck, arms, and upper body. Doctors may also prescribe a soft neck collar. The collar is a padded ring that wraps around the neck and is held in place by a Velcro strap. Patients wear the collar during waking hours for up to three months. Then they slowly begin to taper the amount of time they wear it each day.

If the condition is very mild, some doctors have their patients work with a physical therapist. At first, treatments are used to ease pain and inflammation. Electrical stimulation treatments can help calm muscle spasm and pain. Traction is a way to gently stretch the joints and muscles of the neck. It can be done using a machine with a special head halter, or the therapist can apply the traction pull by hand.

Some patients are given an epidural steroid injection (ESI). The injection is given in a part of the spinal canal called the epidural space. This is the area between the dura (the material that covers the spinal cord) and the spinal column. It is thought that injecting steroid medication into this space fights inflammation around the nerves and discs. This can reduce the swelling and give the spinal cord more room.

When there are signs that pressure is building on the spinal cord, surgery may be required, sometimes right away. Surgeries used to treat spinal stenosis include:

For more information on the surgical options and recovery, see The Orthopod web site at http://www.eorthopod.com/public/patient_education/6450/cervical_spinal_stenosis.html,  the source for the majority of the content in this article.

Circle of Friends

David Painter, Age 18

Our son, David, had a accident this weekend and sustained a spinal cord contusion.

We were camping with family, and David took the brakes off his wheelchair and careened down a hill and off a 3 to 4 ft. embankment. He lost ability to move his arms/hands and legs/feet. He was airlifted from the hospital where we were camping to the hospital near home. His injury was complicated by the fact that he has spinal stenosis (narrowing of the spinal column restricting the space and amount of fluid around the cord).

By the next day, he was showing some improvement, and could wiggle fingers on one hand, move one arm a little and had a little movement in both legs and feet. We have a lot of hope for his recovery and appreciate the prayers of those inclined to pray for him.

Surgery has been recommended to increase the area around the spinal cord (correct the stenosis). The doctor in Gainsville said the sooner, the better, as it will allow more space for the cord to heal, but we have also been told one school of thought is to wait until the cord injury heals to do the surgery. We will talk to the doctor here in Augusta tomorrow morning and hear his opinion. We did not know he had this [spinal stenosis] condition.

We were first sent to a small hospital ER where the Dr. did CT and X-rays and was ready to release him neosporin and ice for a broken nose. They took off the cervical collar and gave us discharge papers. We refused to sign them, and because we knew something was wrong—I knew it was a cord injury. We demanded a neuro-surgery consult. They reluctantly called the main hospital and transported him there (without a cervical collar).

There we were seen by an excellent neuro-surgeon who recommended surgery. We mentioned to him we were away from home with all our kids at a campground, and was there any way we could get him back home before doing surgery. He immediately changed gears and had an airlift arranged by the next morning. I was amazed!

I was attuned to this injury because of what I had recently read on the website and heard on the discussion board. You are making a difference in the lives of these special kids. David's good outcome is due largely in part to you and folks like you who reach out of their own troubles and share their experience with others.

Thanks for your prayers and for any info you might be able to pass on. I am so thankful I have a place to ask questions and share experiences, the good, the bad, the ugly, and the beautiful.

Sam and Mary Painter, Georgia, USA

Follow-up from Debbie Wright:

Scotty, age 24, became an extremely fragile quadriplegic (unable to move all four limbs) from a drop episode and a fall out of his wheelchair back in Sept. 2005. As of about 4 months ago he started regaining movement little-by-little. While laying down he can now reposition himself, has use of his hands and arms in order to feed himself, and is able to propel his wheelchair again. And best of all he has his spirit back - his pain through the worst of it was excruciating which nearly killed us, his family.

While far from his pre-fall mobility he has made great gain considering we thought we were losing him because of his significant declining condition.

The neurological onset was gradual as Scotty slowly lost mobility. He threw up dried blood a few days after the initial hard fall which was the beginning of change. After many Doc appointments the x-rays showed, while limited, that he had a sacrum injury most likely from the drop episodes and cervical spinal stenosis from going head first out of his wheelchair.

Scotty is not a candidate for sedation thus surgery because of historic post-opp respiratory issues and coding blue following multiple spinal surgeries for posterior and anterior spinal fusions. All the medical professionals involved are in agreement that surgery is far too risky for Scotty. And so, we treat him with a non-inflammatory medication Celebrex, along with Buspar for anxiety and Baclofen for spasticity. Seems the most notable turn around for Scotty was when we started him on the non-inflammatory medication and pepsin to protect his stomach.

So, our experience is with no surgical intervention. I have no idea on the pros and cons of this type of surgery. Your story is just so close to our hearts, especially when i saw David's picture following the airlift. His beautiful sweet smile shining through is injury is so reminiscent of my son, in fact, I thought I was looking at my son.

Warmest, Debbie

Joel Bishoff, Age 15 Sean Bishoff, Age 10 and Erin Bishoff, Age 7

Joel will be 15 in Dec. and Sean turned 10 in July. Their baby sister Erin is no longer a baby. She is 7 now! We've had a lot of ups and downs the last few years with Joel. He's a freshman this year and everything is going good so far. He has a great para and a very understanding teacher. We think and hope we have his meds. straightened out. He's on Paxil and Depakote.

Sean is doing good, he's our little rebel. This is his last year in grade school, and I'm not looking forward to him being in Middle School. But they all know us by now so maybe it won't be as bad for him. Health wise their doing fine. They have developed a curve to their spines but the doctor says not worry it's not bad. NO drop attacks for either boy!! We have been blessed they are healthy.

Our biggest problem is the mental issues, we've had to try a lot of different things. When we figure out how to handle one thing something else starts. Thank goodness they take turns. When one is being difficult, the other is fine. My biggest worry is that Joel is so much bigger then me and at times I can't handle him.

Thanks for all you do!!

Barbara & Mark Bishoff, Kansas, USA

Andy Vega, Age 9

I was contacted by Andy’s mother by email written in her native Spanish. I used a free internet translation tool and did some editing of her original email, so I may have lost some of the nuances - MCH

Hello.

Above all I wanted to thank you for all the information that arrived. My name is Yusmary Betancourt and I have a son that is 9 years old and was diagnosed with CLS a year ago. My boy is called Andy and we live in Havana, Cuba. I write because Andy has serious problems with his behavior - he is very uneasy, and from time to time he is very aggressive. There are days in which he is very difficult to deal with - he cries a lot, almost 30 minutes and even an hour without stopping. Because of this, he is not accepted in any center or special institution. As you might imagine, I am desperate since I cannot control my boy and the growing fear is that if he is this way now at 9 years, what will he be like at 15 years—he is a very strong boy and weighs approximately 115 pounds. I need that you please they tell me the name of some medicine with which other children with CLS with the same behavior problems have had good results, to consult it with Andy’s psychiatrist.

Thank you so much for your attention and by helping me to know that I am not the only one with this problem. In these moments I feel desperate.

Yusmary Betancourt

If anyone reads and writes Spanish, I’m sure Yusmary would very much appreciate corresponding with other families. Please contact CLSF for Yusmary's address.

Introducing...Lennard-Justin Vrijland, Age 2

I'm the father of Lennard; a boy (almost 3 years old) who probably has Coffin-Lowry syndome. We're living in The Netherlands but regretfully can't find any sufficient information about this syndrome; neither could we find any other parents who could tell us a bit about this.

Lennard has been tested for this syndrome (CLS) but nothing had been found. During a yearly meeting with doctors from all around the country, Lennards situation was discussed recently and approx. 50% of the doctors said that he has CLS.

Although our English isn't the best, especially in the medical terms, would we like to get in touch with some people who can tell us a bit about what we can expect in the future. What kind of actions are the best to start as young as possible, etc.

Lennard has sensorineural deafness, reflux until 7 months, low muscle tone in his legs and poor eyesight.

Lennard is constantly under medical control in the hospital for his eyes, his hearing, and with a child neurologist. He is going to a medical school 2 times a week, 3 hours per time (also need to travel 1½ hours to and from).

At school he gets therapy in physiotherapy (muscular stimulating program), logopedie (stimulating eating and speaking), and several other things which are difficult to explain or to name. Lennard is developing slowly, but starts to touch when he sits in his special chair and wants to eat. If he doesn't like something he's pushing you away, and when he likes something he laughs a bit and bites on his hand. He's an easy fellow and everybody’s friend.

Leon and Saskia Vrijland, The Netherland

Sam Griffiths, Age 8

My son Sam was diagnosed when he was one and a half years old, which was a very hard time for us all. We didn't think he would ever walk or do any things other children would do and for ashort while were distraught.

After our sort of bereavement period we pulled ourselves together and got on with it! Sam went to all the local groups, playgroups, pre-school & local primary school with one to one help. He learned to walk at two nd a half years old with a lot of hard work and tears.

We went on to have another child Joshua who didn't have the syndrome and he has been the best medicine for Sam ever. Sam is nine in February and is a fantastic little boy, he is very happy and very lovable, he is still in nappies and his speech is still slow but coming on, he has taught himself to ride a bike without stabilizers by copying Joshua ( who has just turned 5).

In Easter this year he began to struggle in mainstream school as he had gone to juniors and there was no play anymore it was all work, he began to get frustrated and didn't want to go to school, we took the decision to put him in the nearest special needs school and it has been the best thing for Sam ever, he is a very happy boy again and loves school. He does cooking, horse riding, pottery, swimming etc..... We have been very lucky with Sam as his spine is fine and he is healthy, the only things he had were Febrile convulsions which he grew out of. He has a lump at the base of his back which is calcification and no problem for now, he also has a small 'tail' type bone which is also no problem.

I am very proud of Sam he is adorable, we sometimes worry about his future but no one has a crystal ball!

Suzanne Griffiths, North Wales

When Special Needs Spark Sibling Rivalry

Source: http://www.cincinnatichildrens.org/about/patient/coping/rivalry.htm  

It's natural for parents to focus their energies on children with special needs, health problems or exceptional abilities -- and feel the personal effects of raising them. But it's also important not to overlook how their siblings are faring. On the sidelines of all that extra attention, these siblings can come under some major pressures, says pediatrician Scott Steinberg, MD. "Parents are often emotionally drained or stressed, especially about the uncertainty of a diagnosis. They may be angry and frustrated that it happened," says Dr. Steinberg, with Northeast Cincinnati Pediatric Associates in Mason. "But the healthy child also has to adjust – both to a sibling taking up more parental time and resources, as well as to a parent who's tired and stressed."

Siblings of children with special abilities or needs may act out to get parents' attention. But the impact on family dynamics can go much deeper, he says, particularly with siblings of special-needs children, who may:

Dealing with misperceptions and emotional responses starts with fostering communication, Dr. Steinberg says. "Try to be a good listener. Encourage siblings to express themselves, including negative feelings. Let your children know it's okay to get mad at their special-needs sibling and not to feel guilty if they sometimes resent the extra attention."

One good way to combat misperceptions, he says, is to describe to children their sibling's special needs or abilities, starting with simple explanations around ages 5 or 6. "Share with them how a health condition is evaluated and treated and what to expect. Talk about their sibling's strengths and weaknesses and the best ways to interact with that child."

It's impossible to treat all children equally, he says. But parents should be as fair as possible and take steps to prevent sibling rivalry.

"Have special-needs children do as much for themselves as they can and assign them tasks so everybody has responsibilities. Do chores together as a family." Dr. Steinberg suggests setting siblings up to cooperate rather than compete, for instance by having them race against the clock as a team rather than individually to complete chores. He recommends devoting time to family activities that everyone enjoys.

"Let each child know he or she is special," he says. "Make sure they're able to develop their own interests and identity. Try to get a few minutes a day alone between each parent and child." Exclusive time with parents will be especially valuable to the sibling of the special-needs child. He also cautions against overburdening older children with care duties for their siblings.

If sibling rivalry gets out of hand or parents see signs of depression or anxiety, counseling may be in order for children or the family, he says. Signs to watch for include sleep or appetite disturbance, hopelessness, poor concentration, low self-esteem, talk of hurting oneself, loss of interest in activities, frequent crying or worrying, difficulty separating from parents, perfectionism, or what can be physical symptoms of emotional distress, such as headaches or stomachaches. "If you see these behaviors for more than a few weeks, seek counseling," Dr. Steinberg says.

Despite the potential problems, being the sibling of a special-needs child can have plusses, too, he says. Research indicates they're more likely to develop such positive traits as maturity, social competence, ability to get along with others, insight, empathy, tolerance of differences between people, pride in family accomplishments and loyalty. "They have more negative issues to deal with," he says, "but they have opportunity for personal growth and character development."

DEXA Scans

Source: http://www.osteopenia3.com/dexa-scans.html

DEXA stands for ‘Dual Energy X-ray Absorptiometry’. It is the most commonly used test for measuring bone mineral density. It is the best way to diagnosis osteopenia or osteoporosis. This test is so accurate that your follow up dexa scan can be used to monitor treatment to learn if your treatment plan is working.

Ordinarily, DEXA scans are recommended by The National Osteoporosis Foundation’s for women over 65, younger post menopausal women who have any of the osteoporosis risk factors , as well as those with specific fractures, and men who are also at risk for Osteoporosis as they age - especially if they have some of the risk factors.

You should not have the test if you are pregnant or think you are pregnant. Also if you have had another x-ray with contrast media in the last 7 days (some examples: barium enema, upper GI , some CAT scans] or if you have had a nuclear scan (including bone scan and thyroid study) in the last 7 days, you should not have this test.

DEXA Scans are used to measure bone mineral density because they:

This is a non-invasive test and requires very little preparation. If you are taking calcium supplements, stop taking them for 48 hours before your test. If you are taking any medications for Osteopenia or Osteoposorosis, do not take them the day of your test. You can eat and drink normally on the day of the test.

Wear loose clothing that has no metal zippers, metal buttons etc. (or you will need to disrobe). If you wear any kind of metal jewelry, you will need to remove it before the test. Be sure to tell the technician if you have had any hip or back injury. And since most technicians will measure the hip of your non-dominant hand, it is worth mentioning if you are left handed.

Some insurance companies will pay for the test - especially if you have any of the risk factors. Check with your insurance company.

Medicare will cover an initial screening and a repeat screening once every 24 months. If your DEXA scan shows osteoporosis and you begin taking a prescription medication to treat this condition, Medicare will cover a repeat scan after 1 year to see if the treatment is working. Repeat screenings are covered every 2 years. Medicare will also cover the cost in specific situations:

a. patients who have thin bones or certain fractures. b. patients taking more than 7.5mg of prednisone per day c. patients with an over-active thyroid. d. patients taking an FDA approved drug for the treatment of osteoporosis to see how well the drug is working.

You can ask the technician when the results are likely to be mailed to your health care provider. Most technicians will tell you this.

Lissa Walter’s son Jake had a DEXA scan done at age 14 and was found to have low bone density in his femurs (large leg bones). He is taking Vitamin D and calcium as a result of this test.

The happiness of this life depends less on what befalls you than the way in which you take it.

~ Elbert Hubbard

Joyce Newcomb Maryland, USA

In Honor of Ian Scowcroft and in Memory of Milton Scowcroft

Tina and Bryan Duff Washington, USA

Shirley and John Walter Minnesota, USA

Judith Fried California, USA

Send your donations to:  

Coffin-Lowry Syndrome Foundation

c/o Mary Hoffman

3045 255th Ave SE

Sammamish, WA 98075 

(U.S. Funds, please)

Donations are tax deductible.  EIN 20-3377465