Vol 15 Issue 3, August 2006
Table of Contents
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"I wanted you to see what real courage is, instead of getting the idea that courage is a man with a gun in his hand. It's when you know you're licked before you begin but you begin anyway and you see it through no matter what. You rarely win, but sometimes you do." ~Harper Lee, To Kill a Mockingbird |
Excerpt from http://www.nlm.nih.gov/medlineplus/ency/article/001066.htm
People with CLS are at increased risk for spinal cord trauma due to the prevalence of drop episodes, and the weakened bones that accompany the condition—this is similar to the bone degeneration that takes place as we age, but in CLS it occurs at a much younger age.—MCH
Spinal cord trauma is damage to the spinal cord that results from direct injury to the cord itself, or from indirect injury from damage to the bones, soft tissues, and blood vessels surrounding the spinal cord.
Spinal cord trauma can be caused by any number of injuries to the spine. They can result from motor vehicle accidents, falls, sports injuries (particularly diving into shallow water), industrial accidents, gunshot wounds, assault, and others.
A seemingly minor injury can cause spinal cord trauma if the spine is
weakened (such as from rheumatoid arthritis or osteoporosis) or if the spinal
canal protecting the spinal cord has become too narrow (spinal stenosis) due to
the normal aging process.
Direct injury, such as cuts, can occur to the spinal cord, particularly if the bones or the discs have been damaged. Fragments of bone (from fractured vertebrae, for example) or fragments of metal (such as from a traffic accident) can cut or damage the spinal cord.
Direct damage can also occur if the spinal cord is pulled, pressed sideways, or compressed. This may occur if the head, neck, or back are twisted abnormally during an accident or injury.
Bleeding, fluid accumulation, and swelling can occur inside the spinal cord or outside the spinal cord (but within the spinal canal). The accumulation of blood or fluid can compress the spinal cord and damage it.
Older people with weakened spines (from osteoporosis) may be more likely to have a spinal cord injury. Patients who have other medical problems that make them prone to falling from weakness or clumsiness (from stroke, for example) may also be more susceptible.
Symptoms vary somewhat depending on the location of the injury. Spinal cord injury results in varying degrees of weakness and sensory loss at and below the injury. The pattern depends on whether the entire cord is injured (complete) or only partially (incomplete).
CERVICAL INJURIES (NEAR THE NECK)
When spinal cord injuries occur near the neck, varying degrees of symptoms can affect both the arms and the legs:
 | weakness, paralysis |
| breathing difficulties (from paralysis of the breathing muscles) |
| spasticity (increased muscle tone) |
| sensory changes |
| numbness |
| pain |
| loss of normal bowel and bladder control (constipation, incontinence, bladder spasms) |
THORACIC INJURIES (CHEST-LEVEL)
When spinal injuries occur at chest level, varying degrees of symptoms can affect the legs:
| weakness, paralysis |
| breathing difficulties (from paralysis of the breathing muscles) |
| spasticity (increased muscle tone) |
| sensory changes |
| numbness |
| Pain |
| loss of normal bowel and bladder control |
| constipation |
| incontinence |
| bladder spasms |
Injuries to the cervical or high thoracic cord may also result in:
| abnormal blood pressure |
| blood pressure fluctuates quickly and through a wide range |
| can be worsened with pain or bladder spasms |
| abnormal sweating; trouble maintaining proper temperature |
Symptoms may develop immediately after injury or may occur gradually because of fluid accumulation around the spinal cord or swelling within the spinal cord itself. Spinal cord injury is a medical emergency requiring immediate attention to minimize the long-term effects.
A neurologic examination indicates the location of the injury, if it is not immediately evident. The reflexes may be abnormal or may be absent in affected areas of the body. There may be some recovery of reflexes after swelling has subsided. Muscle spasticity is common as a late effect of spinal cord injury.
Spine X-rays may show fracture or damage to the bones of the spine. A CT scan
or MRI of the spine may pinpoint the location and extent of spinal cord trauma
and demonstrate any compressive lesions like blood clots (hematomas).
Rarely a myelogram (an X-ray of the spine after injection of dye) may be
necessary. Somatosensory evoked potential (SSEP) testing or magnetic stimulation
may determine if signals can get through the spinal cord.
Treatment
A spinal cord trauma is a medical emergency requiring immediate treatment to
reduce the long-term effects. The time between the injury and treatment is a
critical factor affecting the eventual outcome.
Corticosteroids, such as dexamethasone or methylprednisolone, are used to reduce swelling that may damage the spinal cord. If spinal cord compression is caused by a mass (such as a hematoma or bony fragment) that can be removed or brought down before there is total destruction of the nerves of the spine, paralysis may in some cases be reduced or relieved. Ideally, corticosteroids should begin as soon as possible after the injury.
Surgery may be necessary. This may include surgery to remove fluid or tissue that presses on the spinal cord (decompression laminectomy). Surgery may be needed to remove bone fragments, disc fragments, or foreign objects or to stabilize fractured vertebrae (by fusion of the bones or insertion of hardware).
Bedrest may be needed to allow the bones of the spine, which bears most of
the weight of the body, to heal.
Anatomic realignment is important. Spinal traction may reduce dislocation and/or
may be used to immobilize the spine. The skull may be immobilized with tongs
(metal braces placed in the skull and attached to traction weights or to a
harness on the body).
Treatment will address muscle spasms, care of the skin, and bowel and bladder dysfunction.
Extensive physical therapy, occupational therapy, and other rehabilitation interventions are often required after the acute injury has healed. Rehabilitation assists the person in coping with disability that results from spinal cord trauma.
Spasticity can be reduced by many oral medications, medications that are injected into the spinal canal, or injections of botulinum toxins into the muscles. It is important to treat pain with analgesics, muscle relaxants, or physical therapy modalities.
Paralysis and loss of sensation of part of the body are common. This includes total paralysis or numbness and varying degrees of movement or sensation loss. Death is possible, particularly if there is paralysis of the breathing muscles.
The level of injury affects the outcome. Injuries near the top of the spine result in more extensive disability (numbness and paralysis, breathing difficulty) than injuries low in the spine.
Recovery of some movement or sensation within one week usually indicates eventual recovery of most function, although this may take 6 months or more. Losses that remain after 6 months are more likely to be permanent.
Complications
| paralysis (paraplegia, quadriplegia) | ||||||||||||||
| loss of sensation | ||||||||||||||
| loss of bladder control | ||||||||||||||
| increased risk of urinary tract infections | ||||||||||||||
| increased risk of chronic bilateral obstructive nephropathy | ||||||||||||||
| loss of bowel control | ||||||||||||||
| paralysis of breathing muscles | ||||||||||||||
| increased risk of injury to numb areas of the body | ||||||||||||||
| pain | ||||||||||||||
| complications of immobility:
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Calling your health care provider
Call your health care provider if injury to the back or neck occurs. Call
911 if there is any loss of movement or sensation. This is a medical emergency!
Management of spinal cord injury begins at the site of an accident with paramedics trained in immobilizing the injured spine to prevent further damage to the nervous system. Someone suspected of having a spinal cord injury should NOT be moved without immobilization unless there is an immediate threat.
Update Date: 7/23/2004
Updated by: Luc D. Jasmin, MD, PhD, Department of Neurological Surgery,
University of California, San Francisco, CA. Review provided by VeriMed
Healthcare Network.
The information provided should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies.
Excerpt from http://www.medic8.com/healthguide/articles/raynauds.html
Note: A correlation between Raynaud’s syndrome and CLS has not been officially established. However, poor circulation, immobility or cardiac conditions are similar enough to the known causes of Raynaud’s that is seems reasonable that Raynaud’s could occur in the CLS population. At least one confirmed diagnosis has been made among the CLSF group, and a few others have reported discoloration of the hands and feet.
Raynaud’s syndrome is due to poor circulation, usually in the hands and feet, although it may affect the nose, tongue or ears. The tiny blood vessels in the affected area close down, supplying very little blood to the extremities.
When Raynaud's syndrome occurs alone it is known as primary Raynaud's; when it occurs with another related condition it is known as secondary Raynaud's syndrome.
Raynaud's syndrome occurs on and off, usually as a response to cold or, rarely, as an emotional reaction. The affected areas, usually fingers or toes, turn very white or blue and become numb when cold. On warming, they turn bright red and throb painfully.
Underlying causes of Raynaud's may include:
| Occupation - outdoor workers, use of vibrating tools, chemical exposure (eg vinyl chloride). |
| Medications - (Beta) blockers, ergotamines, oral contraceptives, bleomycin. |
| Blockages to blood vessels - proximal vascular occlusion. |
| Other connective tissue disorders (eg Arthralgia or arthritis, Alopecia, skin rashes, cerebral symptoms, photosensitivity, dry eyes or mouth, mouth ulcers, muscle weakness, respiratory or cardiac problems). |
The most simple examination is viewing of the affected area during or soon after an episode, by a doctor. Further physical examination includes assessment of peripheral pulses, measurement of blood pressure in both arms, and examination of the neck for tenderness often associated with a cervical rib.
Raynaud's syndrome may be mistaken for chilblains by sufferers, so continued episodes of suspected chilblains should be checked by a doctor.
Those with Raynaud's syndrome having no symptoms other than changes to color of affected areas may only need prevention measures to avoid complications.
Some Raynaud's syndrome patients have claimed improvement after changing to diets supplemented with fish oils.
Patients with persistent or bothersome symptoms may be helped by taking oral medications to open (dilate) blood vessels,including calcium channel blockers - a modified release of this preparation reduces the common side effects of headache and flushing. Other medicines used for blood pressure treatment may help dilation. Medications that "thin" the blood, such as low doses of aspirin or dipyridamole may be helpful.
Some medications can aggravate symptoms by increasing blood vessel spasms. Such medications include over-the-counter cold and weight-control preparations, such as phenylpropanolamine and pseudoephedrine found in some cold and flu or headache medications. "Beta-blocker" medicines used for high blood pressure and heart disease can also worsen Raynaud's.
Prevention measures are important in primary and secondary Raynaud's syndrome regardless of the severity. Initial simple care:
| Keep the body warm, especially the extremities. |
| Wear warm clothing in colder environments. |
| Keep room temperatures warm. |
| Minimise barefoot walking. |
| Avoid compression of the blood vessels by tight-fitting wrist bands, rings or foot wear. |
| Special care of nails is needed to avoid injuring sensitive toes and fingertips. |
Smoking (and passive smoking) should be avoided as the chemicals in tobacco smoke can cause blood vessels to constrict and harden the arteries, which further impairs oxygen supply to the extremities. Patients should guard hands and feet from direct trauma and wounds. Any wounds or infections need early treatment to prevent more serious infections. Avoiding emotional stresses and tools that vibrate the hand may reduce the frequency of attacks.
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Hi Mary,
Missy had developed a psychosis with quite the delusional storm. They have tried 4 different meds from 4 different med families with no effect other than sedation. I did do a little research and this is noted with a think 3-4 female patients, but they were all institutionalized. The doctors want to pin this on Coffin-Lowry. I'm a little
mixed on this. I know with mental retardation there are large tendencies to have
psychosis, so I don't know if it is fair to link it to CLS. But do you have any
insight on this topic. This is been going on now for 2 months. Missy has been in
3 different hospitals with no changes. At times she will speak and maybe we'll
get a hug. At present and for the last 2 weeks I have been a dragon. There is
zero eye contact, no touching, we have really lost the real Missy. I keep hoping
every time I get there to see her, she'll be there, but none the less it's not
her. Nothing seems to bring her around. At times she thinks one of us is dead,
one day it's her father, next one of sisters. It is so devastating to watch your
daughter go through this, with the doctors giving no hope to her coming around.
At the present time we are making arrangements to go to a group home. For safety
issues she can not come home. She hears voices in her head. The concern is what
and when the voices are going to tell her to do something that would harm her or
someone else. This Thanks again, Kim Bockhahn Dear Kim, The facts are that there is a suggestion in the data that there is a higher than average incidence of psychiatric problems in women with CLS than in males with CLS or the general population. I refer you to the following: From "Coffin-Lowry Syndrome: A 20-Year Follow-Up and Review of Long-Term Outcomes" http://clsf.info/Literature/20-Year%20Follow-Up.pdf
This you probably already know. However, this phenomenon is not unique to CLS. The following quote is from Psychiatric co-morbidity, UC San Diego Office of Continuing Medical Education. I recommend you read the entire article - it has a lot of good information on the subject of the relationship between developmental disabilities and psychiatric illness:
There may be a physical component of CLS itself that is responsible for psychiatric problems with CLS, but there is no evidence to back this up that I can find. My personal opinion is that because females are higher-functioning and more self-aware, they may be susceptible to a more full range of emotions than the more severely-affected male counterparts. They feel disappointments more fully, they understand that they are different. However, they do not have the emotional toolbox needed to deal with these feelings like other people might. So in a way, CLS is causing the psychosis, albeit indirectly. They may simply be more susceptible to psychotic breaks. It must be heartbreaking for you to watch Missy slip away from you like this, and my heart goes out to you. But I do not think there is anything I can offer you in the way of advice that is specific to CLS. Read the link I sent you and follow through on all aspects mentioned there. If everything in that article is being addressed, then I would continue to rely on the expertise of the medical professionals in whom you have placed your trust. -MCH |
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Dear Mary, Just wanted to catch you up on Brett's surgeries and progress in the past year. Brett underwent spinal fusion (both lumbar and thoracic) in 2005. After the surgeries, it was necessary for him to spend several weeks in rehab since the surgery greatly weakened his arms and legs. He also had to wear a halo for several months. Thank goodness he has such an adaptive nature, because this was a very difficult time for him and us, too. After several months on pain medication, I can now say he is back to his normal life. He is very straight - which makes for it's own challenges, such as stairs, eating, dropping/retrieving items, and other things to adapt to. Brett graduated from high school this past weekend at the age of 21. He got a very touching standing ovation from all of his fellow seniors at the ceremony. Now we enter another new phase of our lives where we try to find the best fit for our special kids (well, really adults) in a complicated world. A lot of prayer and leg work always seems to find us what we need! We send our best for a fun summer to all of the CLS families! Sherri Smith Garland, TX |
| Hi Mary,
My name is Terri Stephens. My child’s name is Jeffrey Hardison. Jeffrey came to me as a foster child before he was two years old. His birth mother was unable to care for him because I suspect she also has undiagnosed CLS. Jeffrey was not correctly diagnosed until about age eight when he began to have severe drop attacks. After much trial and error we are controlling the drop episodes with Lamictal. He only has occasional drop episodes now. Because of all the falls he is less ambulatory. He will walk with help or crawl for fear of falling. Jeffrey has no speech. He communicates with signs and gestures. He needs help with most personal care like dressing and bathing. He is able to feed himself if his food is cut up in bite size pieces. He has had problems with choking. He is potty trained during the day but wears diapers at night. Lately Jeffrey has been waking up crying at night. He has been seen by three different doctors who have ruled out a physical cause, so the working theory is that it is from anxiety. Jeffrey is a lovable, sweet, happy child. He loves books, videos, cars and trucks . He has brought so much joy to our family. Terri Stephens |
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Jeffrey Hardison, Age 11 |
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Cody is almost three, he does not speak he does sign language to communicate. He used to scream to get our attention and now he signs. He is very friendly and loves everyone, nobody is a stranger. He is a big time flirt with all the pretty girls, and melts hearts who we don't even know. He is the best gift I could have ever received. He is very delayed but still very smart. He is my fourth child and he by far is slower. He was just recently seen by a pediatric genetics doctor who told me he had CLS. I am waiting for the blood test to confirm it. He has not had many of these symptoms that has been described, so I fear what's in store. All of my other kids are healthy, but Cody is sick pretty much every other week. It is very mentally draining, and financially a nightmare. Our family suffers from all of our money being spent on his needs, and meds. He is my Million Dollar baby. We applied for Disability but we do not qualify because we make too much money. That’s funny because we suffer from never having any because of his needs. We are paying $1700.00 a month in medical bills and we are upside down. My husband and I work full time jobs and we have nothing to show for it. This whole ordeal with Cody has affected our whole family. But I am going to be there for whatever he needs. I have read about CLS and the future in store for my son is freaking me out. What all of you have gone through or are going through is simply amazing. I am concerned and I am not sure what to expect, so this site has been awesome so far. Thank you for all your kindness, and best of luck to all of you. Be positive, and keep your head up. Mende and Brian Machado Tuolumne, CA |
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Cody Machaco, Age 2, and Mom |
| Dee Dee Rowan comes
to us courtesy of her mother, Diane Fore of Rio Linda, CA. Diane
contacted CLSF for advice regarding Dee Dee’s behavior changes.
Dee Dee had an emotional disappointment in 2003, and ever since then has been showing symptoms of depression and withdrawal from reality. Her symptoms are consistent with bi-polar disorder with some psychosis but the diagnosis has not been confirmed. Prior to 2003, Dee Dee had the same pleasant, outgoing personality that most of us are familiar with in CLS individuals. Dee Dee was diagnosed with CLS at the age of 5 years. She has had scoliosis and was treated with an at-that-time experimental endoscopic surgery. She was only the second patient to have this type of spinal fusion. Because it was done endoscopically, she only has a few small scars as a result, rather than the long incisions that the rest of us are familiar with. Diane Fore Rio Linda, CA Resources for endoscopic spinal fusion or other minimally invasive spinal fusion options: http://www.spineuniverse.com/displayarticle.php/article557.html http://www.spine-health.com/Topics/surg/mini/minimally-invasive02.html) Artificial disks vs Spinal fusion: http://www.spine-health.com/backtalk/res/btb_res_discfus.html |
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Dee Dee Rowan at approximately age 13
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Terms to Know |
Growing Rod"Growing Rods" are used to treat scoliosis in very young children. Once spinal fusion occurs, the spine generally stops growing where it is fused. Therefore, fusion is generally done after age 12 when 90% of the spine's growth has taken place. However, in very young children, scoliosis may be so severe that waiting until the appropriate age is not an option. In these cases, growing rods may be used instead of a full spinal fusion. Growing rods are more formally called a "Luque Trolley" system. The rods are placed once and then lengthened every six months as the child grows. The lengthening surgeries are not as involved or as intense as what one would expect in spinal fusion. With the Luque Trolley system, there is not supposed to be any fusion, but sometimes fusion takes place spontaneously. Click here, then click on "Dual Growing Rod play video" to view a video of the procedure. Warning: This is a video of an actual operation. Viewer discretion is advised. There is also a technique called VEPTR (Vertical Expandable Prosthetic Titanium Rib). Both techniques are relatively new. Studies are still being done to determine the long-term outcomes of these procedures. According to a 2004 paper, "The management of young children with severe scoliosis remains controversial. Currently, single and dual rod techniques, with or without a short apical fusion followed by periodic lengthening have been the most common procedures. The results through definitive fusion are uncertain."
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The following families or individuals have recently made generous donations to the Coffin-Lowry Syndrome Foundation:
Diane and Earl Fore
Rio Linda, CA
Susan Malak
Cudahy, WI
Send your donations to:
Coffin-Lowry Syndrome Foundation
c/o Mary Hoffman
3045 255th Ave SE
Sammamish, WA 98075
(U.S. Funds, please)
NOTE: Donations are not yet tax deductible. 501(c)3 application was filed in Sept ‘05, but took over 8 months to process. Then there were corrections necessary to the paperwork which had to be processed. Everything should be in order now and I hope to hear any day.
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Visits |
Country |
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19093 |
United States |
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1267 |
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1039 |
United Kingdom |
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598 |
Australia |
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242 |
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237 |
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166 |
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Courage doesn't always roar.
Sometimes courage is the little voice at the end of the day that says I'll try again tomorrow.
~Mary Anne Radmacher
