Dr. Thompson's Blog

Muscle Weakness and Neurologists

If a general physician or pediatrician see a patient with muscle weakness, they most likely will refer the child or adult to a neurologist. Sadly little is taught in most neurology programs about neuromuscular disorders. Several or our top neuromuscular specialists: Dr. Munsat, Dr  Peter, Dr. Rowland, and Lord John Walton in England  have died in the last few years.  Now there are few programs left in the U.S  where physicians can learn about neuromuscular disorders. Most neurologists order a battery of genetic tests when they have a patient with muscle weakness. They have usually not been taught how to do muscle biopsies or read muscle biopsy slides. All are important before a diagnosis is made. Often they will see an elevated  CPK, a lab  test, and immediately make a diagnosis of muscular dystrophy. The incidence of misdiagnosis in the group of muscle disorders is very high. I now will only refer patients to Dr. Selcen at the Mayo Clinic or to specific centers in Europe. 

I suspect part of the reason there is so little interest in having neuromuscular programs is that  they are not  money making. Money sadly seems to be taking over medicine in the U.S. like in so many other areas.  Thus as a parent or patient if you or someone in your family need a diagnosis, I would check on a neurologist's training and see if he or she has spent time in a neuromuscular program. Many neurologists say they are neuromusuclar specialists but if you  check the Internet  about their training it is easy to see if this is true or not. A series of genetic tests is NOT adequate to make an accurate diagnosis of a neuromuscular disorder.

There are treatable neuromuscular disorders, so an accurate diagnosis can make the difference in a patient's life.

Should U.S. Medical Schools be Free?

Once New York University announced they would no longer charge for medical school, there have been many letters in support of this. Other letters have suggested that if medical school is free, the recipients should  pay back by giving two or three years of medical care to  patients in low income areas. This certainly seems fair. The choice of so many medical students theses days is to go in to surgery or dermatology so they can make lots of money. Many of these students don't have debts to pay back but just see medicine as a way to make a lot of money.   It is stated that one-third of medical students do not need financial aid, so they should certainly pay for their medical school training. 

When I applied to Stanford for medical school,I didn't think about the cost. My father's salary at that time, as head of the psychology department at Pomona College, was about equal to the tuition. I was very fortunate that Dad had a colleague at Scripps College who was single and had had a mother who wanted to be a doctor but could not afford it. Unknown to me until several years later, Dr. Eyre established a scholarship at Stanford so I could go at no cost. The scholarship is still there for women who want to become doctors. How lucky I was. 

I certainly did not consider how much money I would make when I became a pediatrician. I loved babies and kids and for me there was no other choice. In the last 30 years when I cared for children with disabilities, my income was exceedingly low. However, I was doing what felt right and I knew that somehow I would make it. If a young person is deciding to  go to medical school to make a lot of money, I hope they will chose another profession. 

It is a great joy to be a physician and help patients. I loved practicing medicine and still hear from patients I saw many, years ago. Money cannot replace that joy. 

 

Will Scott Pruitt Destroy the Environment and our Health?

Now that Scott Pruitt is director of the Environmental Protection Agency I have great fear about the future of our environment and the health of all of us. As he takes away multiple protections against having clean water and clean air, more and more people are going to suffer and die. The children and adults with asthma and those with respiratory problems will be the first to suffer. Asthma cases are already increasing. By drilling on public lands and polluting the air, more and more people will feel the effect of what he is doing. Trump, too, is to blame because he does not want the words"Climate Change" used in any government papers or on any agency website. Not even the terrible hurricanes and damage they did has apparently penetrated the minds of these two. I hope that in the 2018 election that Americans get rid of the Republicans who support what is going on.

Doctors, parents and grandparents need to start speaking out and insist that Mr. Pruitt stop what he is doing. How anyone could be so blind to science is beyond my understanding. When Los Angeles was  having such a terrible battle with smog, I was a resident at Los Angeles' Children's Hospital. It was very painful to see the little children with asthma come in struggling to breathe. Fortunately, California and Los Angeles put a lot of restrictions on  the polluters and now Los Angles does not have the problems it did then. However, I suspect things will get worse if Mr. Pruitt has his way.

 

New Research for Duchenne Muscular Dystrophy Rx

Having cared for many hundreds of boys with Duchenne muscular dystrophy, it was encouraging to see an article by Nicholas Wade in the January 1, 2016 New York Times. Three researchers are trying a new technique to insert "the correct gene into damaged cells."  Over the years, there have been countless drug and other research trials,  but this offers a new approach. Scientifically, the article was excellent, but it contained several statements that were extremely bothersome. In the second paragraph, the writer stated that the disorder puts boys in wheelchairs by age ten. This should never happen if the patients are under the care of physicians with neuromuscular training. Unfortunately, in the U.S. we have few adequate clinics or programs for these patients. Other countries are far ahead of us in their treatment of patients with Duchenne dystrophy. I have had youths walk until age 15 and they did not have the more benign form of Becker muscular dystrophy. Right from the start, parents should be taught to stretch the boy's  heelcords, then night braces and heel cord lengthening at the proper time all make a difference. Also, prednisone given in appropriate doses and carefully monitored can help greatly. However, if a boy is not seen at least every two weeks or so by a physician and both weight and blood pressure monitored, problems can result. A low salt diet while on the prednisone is also important. I saw one patient who was on high doses of prednisone and had gained 50 pounds in a short time. The arrogant neurologist had not seen him for six months! I was appalled!

I was on a book tour for my first book, Raising a Handicapped Child, and was looking forward to meeting a former patient and his lovely parents in a hospital clinic in a northern state. A clinic for Duchenne dystrophy patients was in progress in an adjoining room and I was greatly concerned to see the little boys walking on their toes.  I asked the nurse about this and she said their orthopedists did not seem to know about heelcord lenthenings.  Sadly, this is quite common in the U.S. because neuromuscular training is seldom given to orthopedic surgeons. I was married to an orthopedic surgeon and saw what training he received in one of the most outstanding orthopedic programs. Heelcord lengthenings, short leg braces, and night braces can make a real difference. Also, after surgery a youth should be up and walking as soon as possible. Physical therapy can make a great difference in retaining the ability to walk. Dr. Paul Vignos, who first advocated this form of treatment, taught me a great deal about caring for these youths. He was not an orthopedist, but worked with one and published some  important articles about how well these boys can do if they receive the treatment he advocated.

 

Muscle Weakness and Anesthetic Risks

I am always amazed how often physicians don't tell patients with muscle diseases the risks of having a general anesthetic. There is a condition called Malignant Hyperthermia  which can cause severe problems and even death if not recognized and treated or hopefully prevented. When my son was an anesthesiology resident, he often called me about patients he was seeing and to whom he had to give anesthesia. If a muscle biopsy was to be done under a general anesthetic (which it should not have been) or my son had a patient with a muscle disease, he knew to check for a past family history of anesthetic problems and also the patient's diagnosis. if a patient had Duchenne muscular dystrophy, central core disease, or minicore disease, he knew to use preventive measures. Also, if there was a family history of  anesthetic problems, my son knew not to use specific anesthetics. I suspect he saved some lives, as well as considerable post-operative problems.

Malignant Hyperthermia is an inherited condition where with anesthetics, such as succinycholine, halothane, enflurance, isoflurance and sevoflurance a patient can develop a very high temperature, rigidity of the jaw ,and other life-threatening symptoms. The drug dantrolene if given immediately  may be able to reverse the symptoms. Ideally, an anesthesiologist should be aware of the possible danger and flush the anesthesia machine to be used for the surgery with ten liters of oxygen for 20 minutes either the night before or several hours before it is to be used. Patients who have muscle weakness that has not been diagnosed should raise the question of malignant hyperthermia if any surgery is to be performed. Muscle biopsies should always be performed under a local, not a general anesthetic. The Malignant Hyperthermia Hot line is 1-800-644-96737. Also, patients at risk for this disorder would be wise to wear a MedicAlert bracelet that notes the problem. Their number is 1-209-634-4917.

 

Anger about the Increasing Cost of Drugs

As payment for medicine now accounts for a tenth of our nation's total health care spending according to an editorial in the New York Times on 5/15/15, patients are becoming increasingly angry about having to foot the bill for their drugs. When CEOs of major drug companies are being paid millions of dollars a year, something is certainly wrong. If the government could have more control over drug prices that would be a start, but under the Bush administration, no control over prices was allowed for Medicare patients. This lack of control seems to have continued. Bills have been introduced in some states to try and remedy the problem and to also make the drug companies disclose the cost of research for different drugs. The editorial I cited stated that a patient with multiple sclerosis must pay a minimum of $50,000 a  year for drugs. This is just wrong!  I don't understand how any CEO could allow this. Other countries do not  have this problem and American CEOs are increasingly seen as only being interested in their own pay. European  countries do as  much research and development as American companies, but they do not gouge patients, as do American drug companies. Just the amount of money drug companies spend on TV ads alone could account for some of the high prices patients have to pay for their medicines.

The cost of one drug to treat leukemia for a year is $178,000 and one drug used to treat multiple sclerosis first cost $8,700 and now costs $62,400 a year. I think patients need to write and call their representatives in Congress. Prehaps if enough patients complain, something could possibly be done,  although drug company lobbyists seem to exert great control over our legislators.

Help for Children with Rare Disorders

I recently had an e-mail from a  parent whose child was formerly diagnosed as having a mitochondrial myopathy. The mother is quite remarkable having fought hard to get a diagnosis and help for her daughter, who is now an adult.  The woman said she happened to meet a parent who told her about a company called Translational Genomics Research Institute in Arizona. They use the abbreviation TGen. By sending them samples of her daughter's blood, they were able to define the gene causing her daughter's problems.   The gene was found to be TBC1D24. A common sympton of this particular gene and associated ones is epilepsy.  The current world specialist for this is a Dr. Philippe Campeau who is in Quebec, Canada. The importance of pinpointing a particular gene is that hopefully treatment can someday be found.

This  parent also told me about a branch of the NIH called the Undiagnosed Diseases Center. I had heard a little about this Center, but was glad to hear that funding has not be eliminated and it still exists. So this is a good resource for parents who have a child with an undiagnosed disorder. Fortunately, more  and more genes are being found which will help researchers find treatments. I think for parents the important thing is to keep searching and to do lots of networking with other parents. Please always get a second opinion if a child  has a serious diagnosis. This is  particularly true with a diagnosis of a  neuromuscular disorder. The U.S. Is far, far behind other developed countries in the  correct diagnosis of these disorders.

 

Concerns about DNA Testing

I was pleased to see an article in the New York Times today that the National Institute of Standards and Technology has developed "reference materials"  laboratories can use to be sure they are producing accurate results. There have been real problems in the past particilarly with some private, for-profit labs. If lab results are not accurate whether they are for DNA or other tests, grave problems can result. For example, if a couple is told that their unborn child has a fatal disease there have been cases where a  fetus was aborted and then found not to have the disorder.  When I started practicing pediatrics, I found it was wise to send blood samples from the same child to two different labs. I was not surprised to get different results. When I moved to the Bay area, I followed the same practice and finally found labs I could trust.Talking to experts across the country about testing for specific muscle disorders was also a way to find out which labs were accurate and which were not. Metabolic disorders and mitochondrial disorders needed very special labs. I am not sure this  has changed completely and have always advised  parents to get a second opinion if a child has been given a diagnosis that could have serious problems.

One interesting statement in the New york Times article was by Dr. Jeffrey Shuren who is director of the F.D.A. Center for Devices and Radiological Health. He is quoted as saying that "Accurate tests have become more important as treatments are increasingly based on the type of mutations detected in genetic testing."

When Parents Don't Allow Their Children to be Immunized

One hundred cases of measles are  currently reported in several U.S. states. These cases follow the 59 cases that developed after several unimmunized children visited Disneyland. A few years ago because of the measles vaccine, there were NO cases of measles in the United States. Before the vaccine, it was reported that about 500 deaths from measles occurred each year. Measles is not like having the common cold. This is a serious disease that can cause not only death, but pneumonia, encephalitls and serious illness. After my daughter was exposed to measles at age five when a doctor's wife brought her ill child to the kindergarten class Jennifer attended, 20 of the 22 children in the class developed measles. Jennifer was one of these. I stayed home from work and sat by Jennifer's bed for almost ten days. She was very ill and I was Angry. I would be even more angry today, now that we have protection against measles, if she was in a class or group where unimmunized children developed measles and spread it to a class or group. l do not understand how any parent can let their children to be unimmunized. Dr. Andrew Wakefield's report tht autism could result from vaccines has been completely refuted by several different studies. He did a great disservice to children by his report and his medical license has been revoked in England.

One of my muscle disease patients not only had limb-girdle muscular dystrophy, but he was deaf after  having mumps. This was before the vaccine could be obtained. Another teenager had severe chicken pox encephalitis.  She recovered, but it was touch and go. I hope some parents will rethink their decisions.  I would be unable to have them as patients if they wanted me to be their children's pediatrician.

The Dangers of Not Immunizing Children

I have always wished that parents who refuse to immunize their children could see some of the  tragedies which can occur when children are not immunized.  In the September 14, 2014 Los Angeles Times Op-Ed page, there is a dramatic and heart- wrenching account by the author, Margaret Harmon, of the terrible time she, her husband, and son went through when they were in England many years ago.  Measles vaccination was not available at that time and the boy had a terrible battle with  measles encephalitis. I think all parents who refuse immunizations should be required to read this article.

I, too, can attest to a frightening two weeks when my daughter was just starting kindergarten and a doctor's wife brought her ill child to school. This was also before measles immunizations were available. Twenty of the twenty-two students in the class becasme ill and Jennfier had high fevers for several days. i stayed home with her the  entire time and was relieved when her fever finally  went down and she became her usual bright and happy self. How lucky we were. One of my patients, who had limb-girdle muscular dystrophy, became deaf after having mumps. He was born before the vaccination was available. Another patient had to be hospitalized with chicken pox encephalitis and almost didn't survive. I practically lived at the hospital and was delighted when she came through all right. I thought her father might also  have to be admitted becasue he was so upset.

Having interned during the last year before polio vaccination was available, I saw the terrible toll the disease can take. Puting patients into iron  lungs as a young intern took a great toll on me  and I saw deaths, paralyzed patients and children with little movement left in their bodies.