Although TCM proposes that natural products catalogued in Chinese Materia Medica or acupuncture can be used alone to treat virtually any illness, quite often they are used together and sometimes in combination with other modalities (e.g., massage, moxibustion, diet changes, or exercise).

The scientific evidence on selected modalities from TCM is discussed below.

Acupuncture

The report from a Consensus Development Conference on Acupuncture held at the National Institutes of Health (NIH) in 1997 states that acupuncture is being "widely" practiced--by thousands of acupuncturists, physicians, dentists, and other practitioners--for relief or prevention of pain and for various other health conditions. In terms of the evidence at that time, acupuncture was considered to have potential clinical value for nausea/vomiting and dental pain, and limited evidence suggested its potential in the treatment of other pain disorders, paralysis and numbness, movement disorders, depression, insomnia, breathlessness, and asthma.

Preclinical studies have documented acupuncture's effects, but they have not been able to fully explain how acupuncture works within the framework of the Western system of medicine.

It is proposed that acupuncture produces its effects by the conduction of electromagnetic signals at a greater-than-normal rate, thus aiding the activity of pain-killing biochemicals, such as endorphins and immune system cells at specific sites in the body. In addition, studies have shown that acupuncture may alter brain chemistry by changing the release of neurotransmitters and neurohormones and affecting the parts of the central nervous system related to sensation and involuntary body functions, such as immune reactions and processes whereby a person's blood pressure, blood flow, and body temperature are regulated

Chinese Materia Medica

Chinese Materia Medica is a standard reference book of information on medicinal substances that are used in Chinese herbal medicine. Herbs or botanicals usually contain dozens of bioactive compounds. Many factors--such as geographic location, harvest season, post-harvest processing, and storage--could have a significant impact on the concentration of bioactive compounds. In many cases, it is not clear which of these compounds underlie an herb's medical use. Moreover, multiple herbs are usually used in combinations called formulas in TCM, which makes the standardization of herbal preparations very difficult. Further complicating research on TCM herbs, herbal compositions and the quantity of individual herbs in a classic formula are usually adjusted in TCM practice according to individualized diagnoses.

In the past decades, major efforts have been made to study the effects and effectiveness of single herbs and of combinations of herbs used in classic TCM formulas. The following are examples of such work:

Ayurvedic Medicine

Ayurveda, which literally means "the science of life," is a natural healing system developed in India. Ayurvedic texts claim that the sages who developed India's original systems of meditation and yoga developed the foundations of this medical system. It is a comprehensive system of medicine that places equal emphasis on the body, mind, and spirit, and strives to restore the innate harmony of the individual. Some of the primary Ayurvedic treatments include diet, exercise, meditation, herbs, massage, exposure to sunlight, and controlled breathing. In India, Ayurvedic treatments have been developed for various diseases (e.g., diabetes, cardiovascular conditions, and neurological disorders). However, a survey of the Indian medical literature indicates that the quality of the published clinical trials generally falls short of contemporary methodological standards with regard to criteria for randomization, sample size, and adequate controls

Naturopathy

Naturopathy is a system of healing, originating from Europe, that views disease as a manifestation of alterations in the processes by which the body naturally heals itself. It emphasizes health restoration as well as disease treatment. The term "naturopathy" literally translates as "nature disease." Today naturopathy, or naturopathic medicine, is practiced throughout Europe, Australia, New Zealand, Canada, and the United States. There are six principles that form the basis of naturopathic practice in North America (not all are unique to naturopathy):

1. The healing power of nature

2. Identification and treatment of the cause of disease

3. The concept of "first do no harm"

4. The doctor as teacher

5. Treatment of the whole person

6. Prevention

The core modalities supporting these principles include diet modification and nutritional supplements, herbal medicine, acupuncture and Chinese medicine, hydrotherapy, massage and joint manipulation, and lifestyle counseling. Treatment protocols combine what the practitioner deems to be the most suitable therapies for the individual patient.

As of this writing, virtually no research studies on naturopathy as a complete system of medicine have been published. A limited number of studies on botanicals in the context of use as naturopathic treatments have been published. For example, in a study of 524 children, echinacea did not prove effective in treating colds.  In contrast, a smaller, double-blind trial of an herbal extract solution containing echinacea, propolis (a resinous product collected from beehives), and vitamin C for ear pain in 171 children concluded that the extract may be beneficial for ear pain associated with acute otitis media. A naturopathic extract known as Otikon Otic Solution (containing Allium sativum, Verbascum thapsus, Calendula flores, and Hypericum perforatum in olive oil) was found as effective as anesthetic ear drops and was proven appropriate for the management of acute otitis media-associated ear pain. Another study looked at the clinical effectiveness and cost-effectiveness of naturopathic cranberry tablets--versus cranberry juice and versus a placebo--as prophylaxis against urinary tract infections (UTIs). Compared with the placebo, both cranberry juice and cranberry tablets decreased the number of UTIs. Cranberry tablets proved to be the most cost-effective prevention for UTIs.

Homeopathy

Homeopathy is a complete system of medical theory and practice. Its founder, German physician Samuel Christian Hahnemann (1755-1843), hypothesized that one can select therapies on the basis of how closely symptoms produced by a remedy match the symptoms of the patient's disease. He called this the "principle of similars." Hahnemann proceeded to give repeated doses of many common remedies to healthy volunteers and carefully record the symptoms they produced. This procedure is called a "proving" or, in modern homeopathy, a "human pathogenic trial." As a result of this experience, Hahnemann developed his treatments for sick patients by matching the symptoms produced by a drug to symptoms in sick patients. Hahnemann emphasized from the beginning carefully examining all aspects of a person's health status, including emotional and mental states, and tiny idiosyncratic characteristics.

Since homeopathy is administered in minute or potentially nonexistent material dosages, there is an a priori skepticism in the scientific community about its efficacy. Nonetheless, the medical literature provides evidence of ongoing research in the field. Studies of homeopathy's effectiveness involve three areas of research:

1. Comparisons of homeopathic remedies and placebos

2. Studies of homeopathy's effectiveness for particular clinical conditions 

3. Studies of the biological effects of potencies, especially ultra-high dilutions

Five systematic reviews and meta-analyses evaluated clinical trials of the effectiveness of homeopathic remedies as compared with placebo. The reviews found that, overall, the quality of clinical research in homeopathy is low. But when high-quality studies were selected for analysis, a surprising number showed positive results.

Overall, clinical trial results are contradictory, and systematic reviews and meta-analyses have not found homeopathy to be a definitively proven treatment for any medical condition.

Summary

While whole medical systems differ in their philosophical approaches to the prevention and treatment of disease, they share a number of common elements. These systems are based on the belief that one's body has the power to heal itself. Healing often involves marshalling multiple techniques that involve the mind, body, and spirit. Treatment is often individualized and dependent on the presenting symptoms. To date, NCCAM's research efforts have focused on individual therapies with adequate experimental rationale and not on evaluating whole systems of medicine as they are commonly practiced.

 ~

The National Center for Complementary and Alternative Medicine (NCCAM) is 1 of the 27 institutes and centers that make up the National Institutes of Health (NIH). The NIH is one of eight agencies under the Public Health Service (PHS) in the Department of Health and Human Services (DHHS). 

NCCAM has provided this material for your information. It is not intended to substitute for the medical expertise and advice of your primary health care provider. We encourage you to discuss any decisions about treatment or care with your health care provider. The mention of any product, service, or therapy in this information is not an endorsement by NCCAM.

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A novel RSK2 (RPS6KA3) gene mutation associated with abnormal brain MRI findings in a family with Coffin-Lowry syndrome. Am J Med Genet A. 2006 May 11; [Epub ahead of print] Wang Y, Martinez JE, Wilson GL, He XY, Tuck-Muller CM, Maertens P, Wertelecki W, Chen TJ. Department of Medical Genetics, University of South Alabama, Mobile, Alabama.

Abstract.
Coffin-Lowry syndrome (CLS) is an X-linked mental retardation syndrome caused by defects in the RSK2 gene. We have identified a CLS family with four patients in two generations. The patients in this family, a mother and her three children (a male and two females), all have severe mental retardation with the typical CLS phenotype. In addition, brain MRI studies on the three siblings revealed abnormalities in deep subcortical white matter, thinning of the corpus callosum, hypoplastic cerebellar vermis, and asymmetry of the lateral ventricles. The degree of severity of the MRI findings correlated with the severity of mental retardation in the patients. Extensive mutation screening was performed on the entire RSK2 gene in this family. Twenty-two exons including the intron/exon junctions were amplified by PCR and subsequently sequenced on both strands. A novel mutation, a two-nucleotide insertion (298 ins TG), was identified. The insertion creates a stop codon at codon 100, resulting in a 99 amino acid truncated RSK2 protein. All patients tested have the same mutation, and no other mutation could be found in the RSK2 gene from the proband. The mutation was confirmed by PCR/RFLP. X-chromosome inactivation assay on the female patients revealed significant skewing toward inactivation of the normal RSK2 allele. Thus, this novel mutation is likely to be responsible for the unusual clinical presentation in this family, which includes full phenotypic expression in females and unique brain MRI abnormalities. The pathological function of the mutation and genotype/phenotype correlation between the mutation and this unusual clinical presentation await further clarification. (c) 2006 Wiley-Liss, Inc.PMID: 16691578 [PubMed - as supplied by publisher]
 

Thanks to Suzanne Solorio for finding this one.—MCH
 

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Tom’s family consists of Dianna and Donald Garvin of 103 E. Harriman St,  Bargersville, IN 46106  317-422-1861 dignindy@aol.com
He has an 18 year-old brother, Scott. Tom spends every other weekend with Steve and Peg O'Brien, his father and step-mother.

In Dianna’s words:

Thank you for having this website, I have referred to it many times over the last 7-8 years and regret that I haven't registered before now. 

Tom is doing well with personal grooming still with assistance.  Takes his own showers on a daily basis (still has to be told to). And about once a week his step father actually supervises his showers, helping him to wash all of is hair, his back and just a complete wash all over. 

Tom gets himself dressed, and usually can do a good job of picking out clothes.  He only has trouble when something is inside out.  He is shaving now and he uses one of those 3 headed electric shavers that he can not hurt himself with.  I let him start, but end up getting areas he misses.  He understands the concept of shaving and putting on deodorant, but misses the spots necessary when doing or applying.  He brushes his teeth daily with my supervision and reminding him to get ALL teeth, left, right, top and bottom.

Tom is currently working on learning to tie shoes and zip his zipper on his own.  Also work on his personal hygiene "targets" when shaving and putting on deodorant.  Looking in the mirror to determine when everything is in place and looks good and when something isn't right.  (Hair messed up, spot on face, etc....) 

Tom is not permitted to clip his own nails, because he cuts them to close.  (Tom has a high pain tolerance and will cut rather than stop cause it hurts) 

Tom can maneuver TV, VCR, Stereo, Games etc... with out problems, once he figures them out.   His motor skills are slow in playing games (reaction time).  And since he is unable to read, he doesn't read instructions.  He can read simple and familiar words probably about a 1st grade level.  He knows his ABC's and numbers to 100.  We try and encourage Tom to do most things himself or at least try. 

Tom dries the dishes and puts them away.  Sets the table sometimes.  Keeps room picked up—this is for his own safety, he can not bend his head down to see his feet so he can trip over things or step on them and break them, therefore he has to keep toys, books, picked up off floor.

Tom is in the 9th grade and this is his 1st year at the High School.  So far he says he likes it.  At school, Tom collects the recyclables and take to the appropriate bends using a dolly or cart. (loves this) and reloads the copy machine.

I remember reading about some of the kids and thinking, thank goodness Tom isn't that bad off.   Well over time now I look at the web site and think, yes Tom was that bad off.  Other than his mental slowness and developmental delays of crawling, walking, talking, etc... Tom was a physically healthy boy, with only occasional colds.  Up until he was about 12.

Tom had been diagnosed with scoliosis around 8-9 and when he was 11-12, my chiropractor took a personal interest in Tom and just by looking at him said, he has more than scoliosis. Tom also had thoracic lordosis (Straight Back Syndrome)  and unless this was checked out by a spine surgeon it could become dangerously serious. (I don't remember how many times I had questioned why Tom's back looked the way it did "Angel wings" I called it, with his physicians, only to get a "it's his scoliosis".) 

After having test, X-rays, and CT's done it was determined that yes indeed Tom's health was in jeopardy.  Since Tom's spine was curved into his chest cavity, his ribs cage was closed to much and as Tom grew he would run out of room for his heart and lungs therefore a spinal fusion was needed.  The spinal fusion needed to be delayed as long as possible to allow Tom to grow to full height, so the fusion wouldn't have to be repeated down the road.  So for about 16 months we watched Tom go through wearing a brace to losing 50% of his lungs [capacity].  At which time the spine surgeon decided this job was going to be too much for him and Tom would need to go to Riley Hospital for Children in Indianapolis for his procedure and doctors that were more familiar. Well that was the best move we could have made.

Riley is a wonderful facility, as I'm sure most of your Children Hospitals are.   It was decided that Tom would have his spinal fusion July of 2004 (age 13)  His breathing had gone down to 35% capacity and it was all he could do to walk across a room without getting winded.  The doctors gave us the worst case scenario, this would be a high risk surgery and they would only try and fuse the spine in the position it was in to aid in his respiratory and no correction would be done due to his risk of being on a respirator all his life.  In fear of his lungs collapsing, they would keep Tom on a respirator for 7-10 days before he would be brought out of an induced coma.  

We planned for the worst.  After a long 5 hours of waiting the surgeon came out and told us that the rod was in place the entire length of Tom's spine, he had pulled back the spine 2" and all went well.  

Tom's 1-2 weeks of ICU turned into 3 days, and his entire hospital stay was over in 10 days.  The 2" the doctors gave Tom, gave him back 90% of his lung capacity.  The surgery was a 200% success. Tom was able and ready to return to school at the beginning of the school year, just 8 weeks after his surgery. 

Tom is now in the big High School (9th grade) and loves every minute of it.  He has the bad habits of a teenager and the lovable moments of a 6 year old.  His favorite things are anywhere from Teletubbies, Bob the Builder, Pooh! (his best friend in the whole world), to cars, truck, and construction equipment.  He loves watching kids movies and playing his X-Box.  Unfortunately, Tom doesn't have many friends in the neighborhood we live in, but they are beginning a buddy program at school this year where he will be teamed up with a normal child that will call him on the phone 1-2 times a week and they will go out and do thing together.

Tom is a very lucky boy to have four wonderful parents in his life.   I have been re-married now 5 years to a wonderful man (Don) that has a lot of patience and understanding with Tom, yet pushes Tom beyond his potential when mom wants to give in, if you know what I mean.  Tom goes to visit with his Dad (Steve) every other weekend who has been dating and married a wonderful lady (Peg) who just happens to work in the medical field, which comes in very helpful for me in getting the right questions asked and answered.  Poor hospital didn't stand a chance against Nurse Peg and Don (smile).  Tom also has a brother Scott who is 18 and very protective of him.

Thanks Mary for keeping this wonderful web site open for us to all meet each other and learn from each others lives. 

Dianna Garvin
proud mother of Tom O'Brien
Bargersville, IN, USA
  
 

My name is Thomas Sands I was in contact with you some years ago you might still have my information for a number of reasons I lost contact with you but still used your site for reference with doctors as there is very little known about CLS here.  I would like to get in contact again as I the site a great comfort  to know I’m not alone in my situation. When I read some of the cases and stories of others, it nearly seems that they are talking about Damien.

Damien is a very healthy and happy boy for all of his life, he takes everything in his stride, even when he had his 10 hour  scoliosis operation.  5 minutes after it he was sitting up in intensive care watching cartoons on TV.  Everyone that come in contact with him always take him into their hearts.

Damien is 24 yrs old and still needs to have all his grooming skills done for him. He is still not toilet trained and is still in nappies 24x7. He has very little speech and any he has is one and two words at a time, but having said that when he wants something, he can make you understand him by words signing or pointing. He understands everything that is said to him and forgets nothing. He loves music of all kinds. Loves to be included in all that's going on around him. His main dislike is anything that is out of place has to be put right before he will go on with what he is doing.

Thank you for all the information you put on the site as it has been a great help.

Thomas Sands 

Northern Ireland

Scotty is not doing well. He has regressed dramatically since Sept 2005. He was just diagnosed with "cervical spinal stenosis with myelopathy", a spinal curvature in the neck area just above his fusion point from S1-T2. The falls and trauma since Sept 2005 have accelerated his problems thus the myelopathy-all his falls before that from drop episodes seemed to have left him nearly unfazed.

Since March 2006 he has lost most of the function of his arms and hands from pressure on the spinal cord and is now incontinent and in diapers. He has bone spurs and narrowing of the spinal column and needs to have an MRI, but he must go under for an MRI and he has had anesthesia complications in the past which caused him to go “code blue” in the post-operative timeframe, twice.   X-rays do not provide the detail they need.  We meet with the Neurologist tomorrow and decide the course of action.

Scotty is very crippled/ deformed  from skeletal changes in his hip area. He is in a fixed sitting position severely bent at the hips. Getting to his stomach area is very difficult and now complicated with diapering. Scotty has a severe skeletal situation and bracing proved ineffective not to mention miserable for him. Therapy may have slowed the progression slightly.

So, for us, it has come down to quality of life when making crucial decisions.  Yes, things have gotten very complicated and we are extremely stressed, fear sometimes getting the best of us because Scotty is in so much excruciating pain at times. Before Sept. he never cried because his pain tolerance is of the highest degree and our hearts are slowly bleeding from this change.

Now I understand the full meaning of getting through each day one moment at a time. With the extreme highs of that smile and the extreme lows of a wrong movement in positioning. Scotty is our hero, he is our Superman, he is that ever-ready battery of strength and determination that truly amazes us day after day in spite of his disability. I just don't think he realizes that he is disabled...the blessing of who he is in how it helps him to overcome all the obstacles.

Debbie Wright

Santa Rosa, CA 

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Check the online support forum regularly for new pictures! (Members only)

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Dear Mary,

For the past 3-1/2 years I have had the pleasure of working with a young man named Andy. He is one of the people pictured in the  photo gallery of the CLSF website. I have never met a more enthusiastic, joyful soul. He has touched my family forever.

We have just completed a mini-”bottle drive” of returnable bottles, gathered from friends and family. Enclosed is our donation. We are planning to give your beautiful hand-made note cards to Andy’s mom for Mother’s Day. They really caught my eye on the web page. Please send blank inside cards.

Andy has done much of the work on this project and he created the enclosed artwork on my computer. I know his mom will be touched by the gift of those beautiful cards.

Thank you
Martha Holzwarth
Windsor, ME

 

Dear Mrs Hoffman,

Thank you for the April 2006 CLSF News. The article about operative treatment for scoliosis is so good that I felt that I had to show it to my wife who has worked as a well-trained physiotherapist. The illustrations and portraits were good too, and there is a touching note about Andrew Anderson.

Thanks and best wishes,
Grange Coffin
Berkeley, CA

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 is taking 8+ months to process. I should hear in August ‘06.

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