Unraveling the Mysteries of Neurodegenerative Diseases

In a previous post, Understanding Stem Cells and their Potential, we discussed the devastating neurodegenerative disease, Huntington's Disease. Woody Guthrie, a popular American folk singer, was diagnosed with the illness in the 1950's and died in 1967 after 17 years of hospitalization. My daughter's middle school class is using Healthline to research and write papers about a variety of diseases. My kid chose Huntington's Disease, riveted by the agonizing story of Carol Carr, elderly mother and caregiver, who shot and killed her two sons, diagnosed with the illness. Her adult sons' father, their grandmother, their aunt and an uncle had all inherited the disease and Ms. Carr had witnessed their slow deterioration, caring for them. The uncle had committed suicide when he realized his fate. Ms. Carr herself had health problems (heart disease, herniated discs, kidney disease); they were a blue collar family. The sons she killed had an unsuccessful suicide attempt, once they were in the early phases of the disease but before being admitted to a skilled nursing facility. Out of the mouth's of babes (my daughter); "The horrible thing about Huntington's is that you don't just get sick and then die, it goes on and on and on." It is unnerving to contemplate that a folk hero like Guthrie spent the last years of his life in state mental hospitals.

The State of Georgia "tempered justice with mercy." They did not want to convict Carr of a double murder, but they also argued that the courts could not just condone the situation, sympathetic though it might be, "because others might follow suit, who don't want to be bothered, or just want the insurance money." Ms. Carr pleaded guilty to a lesser charge of assisted suicide. As Lee Sexton, Ms. Carr's attorney opined, "...Georgia and other states that do not have a euthanasia statute are in dire need of one...I would be prosecuted for not euthanizing a dog in...[a similar state]." Humans should have the same right to die as they choose.

NIH News reports that researchers at the Mayo Clinic are looking at faulty DNA repair as a possible link in the onset in Huntington's. The interesting thing about the disease is that onset is delayed, usually until middle age, which has scientists looking to find ways to stop or slow down the process. Principal researcher Cynthia McMurray PhD., professor of pharmacology at Mayo Clinic states the gene, called huntingtin, produces a protein that has a destructive effect in the brain. Everyone knows it is a progressive disease, but no one knows why. Her research supports the idea that an "extra segment" on the huntingtin gene expands over time in nerve cells, which don't divide. The extra segment grows inside the cells over time because the DNA repair enzymes, which remove oxidative lesions (the byproducts of oxygen we breathe), can't keep up. Researchers are excited to work with some of these DNA repair enzymes and their role in oxidative lesions, and ultimately destructive proteins. They may find the keys to treatment of some of the devastating neurogenerative diseases that afflict an aging population: Alzheimer's and Parkinson's Diseases.

Thank you E Wayne, for use of the photo, Woody Guthrie.

Labels: assisted suicide, Huntington's, right to die, stem cells, woodie guthrie

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American Idol Gives Back: Raising Money and Awareness to End Malaria Deaths in Africa

Who knew? Ryan Seacrest Holds the Solution: A $10 Bed Net Saves Lives. Like millions of others around the world, my teenager and I have gotten hooked on American Idol. This week the hit produced a two program special called "Idol Gives Back" which raised money through donations to the Charity Projects Entertainment Fund (CPEF), a registered US charity. Every time a viewer called in to vote for their favorite singing contestant, sponsors (Allstate, ConAgra Foods, ExxonMobil, Ford, CocaCola and AT&T) made donations to CPEF.

Malaria No More is one of the charities that will receive some of the money raised. April 25, 2007 is Malaria Awareness Day, marking the seventh anniversary of African leaders from 44 countries participating in a summit to end this devastating disease. Malaria is a parasitic disease transmitted by mosquitoes. Africa is a continent that has been decimated by this preventable, treatable illness. Malaria has been controlled and eliminated in much of Asia, Europe and the Americas, but in Africa, the number of cases has increased. No one in the US gets malaria, yet it is the single leading cause of death for children under 5 in Africa.

Insecticide treated bed nets for families to sleep under cost as little as a $10 donation .
It is wonderful to see Fox TV bringing this urgent global health issue into our living rooms. Let's help make a difference.

For more on Malaria go to:
http://www.malarianomore.org/press.php#mnews

Thank you Gary Moyes/Comic Relief Ltd for use of photo Seacrest distributing malaria bed net to mother and child.

Labels: africa, american idol, global health, malaria, ryan seacrest

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Topamax: I love you!

Today marks the first month in years that I am migraine free, thanks to Topamax. I was really grateful and a little apprehensive when my doctor prescribed sumatriptan injections for the incapacitating headaches that crippled me about 11 years ago. I had been struggling with migraines for a few years, but as a recently widowed mother of an active toddler, I really could not afford 24-48 hours of incapacitation and irritability. At that time, I lived in a rural community, one mile from the nearest neighbor, had a small farm with lots of animals and in addition to raising my daughter and grieving the death of my husband, I was running a busy consulting practice. Who wouldn't have migraines? I get agita just remembering those days.

Your doctor warns you not be alone the first time you give yourself an injection of Imitrex, so the scene of me carting my little daughter and all of the toddler paraphernalia, my injection kit and paraphernalia over to my neighbor's house is indelibly etched in my memory. Migraines are a type of vascular headache, the result of the blood vessels in the brain dilating. Imitrex works by constricting the blood vessels, but one of the problems is that migraines are so localized. The excruciating, tortuous pain comes from one blood vessel in one small area of the brain. Imitrex constricts the blood vessels in the entire body, so for first time users or people with known risk factors, there is the danger of cardiac complications to watch for. My neighbor Tammi entertained my daughter while I wiped my thigh with alcohol and shot the spring loaded auto-injector dose into my skin. After about ten minutes I could feel tightness as the blood vessels in my throat constricted and within twenty minutes I was headache free. This was a miracle, and soon Imitrex manufacturer GlaxoSmithKline made available the much more convenient and less dramatic triangular white tablets. I admit to feeling somewhat like a junkie about my Imitrex. I had to have a pill on me or nearby at all times. I lived in fear of the next migraine. I lived in fear of not having access to Imitrex, so effective is it in relieving the agonizing pain of a migraine, and relieving it fast. I never miss a day at work or my daughter's ballet performances due to a migraine. Imitrex relieves the pain in about twenty minutes and I can keep on going.

Over the years I radically changed my life and lifestyle to prevent migraines: reduced stress, learned the triggers (alcohol) and avoid them as much as possible. Tried lots of alternative therapies like acupuncture, cupping, massage, hot rock treatment, craniofacial massage and meditation. I have had shamanic healings, Reiki healings, if there is something out there, I have probably tried it. I'm insatiably curious about everything and everyone (my detractors say I'm nosy). Migraines have not defined my life.

Until two months ago. I started getting rebound headaches after taking Imitrex. Really, really bad ones. Headaches so bad I spent weekends in bed, getting up only to throw up, taking Phenergan and Percocet to sleep and cut the cycle. Now my daughter is a teenager and any parent of a teenager can tell you, they need you at least as much as toddlers do. Unacceptable to be unavailable to them.

Years ago, a doctor had recommended Inderal to me for preventing migraines. I wasn't sold on the idea of a vascular solution. I researched (using Healthline) what medications are being used to prevent migraines in the first place. Based on my understanding of neurophysiology, I decided I wanted to try something that would change neurotransmission, as it is my belief that is what triggers the migraine response. I decided to try Topamax as it had the fewest side effects, based on my research. I made an appointment and discussed it with my doctor. I walked out of his office with a prescription and a sample.

I started out a month ago on a dose of 12.5 mg in the evening. You have to take Topamax with a full glass of water. After a week, I increased my dose to 25 mg in the evening. I had a few mild (+2/10) headaches so I increased it to 25 mg in the morning and the evening the following week and am happy to report I have been migraine free for a month with no side effects. If this blog post helps just one person find relief, I am happy.

Full disclosure: Ortho McNeil Neurologics, Inc. doesn't even know I exist. They do advertise on our site but I receive no benefit from that nor have I had any conversation with anyone about that. My sister manages a neurology practice on the East Coast and she really likes the Ortho McNeil Neurologics, Inc. pharmacy rep who visits their office. My doctor gave me a sample of 42 (?) 25 mg pills but I am now paying my co-pay that insurance doesn't cover. I still carry my Imitrex just in case.

Thank you ADAM illustration Team for use of illustration.

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The Human Brain as a Deadly Weapon: Privacy Laws vs. Protecting the Public

Today we mourn the dead at Virginia Tech. Everyone looks for someone to blame. Everyone wants to hold someone responsible. As anyone who has ever dealt with the mental illness of a family member, a co-worker, a neighbor, a friend, or an acquaintance can tell you, Good luck with that. A deadly Catch-22 exists at the confluence of mental illness, privacy laws, victim rights and public protections. Defense lawyers are using advances in neuroscience to get reduced sentences for people with damaged brains who commit violent crimes. Clearly we need robust debate about using advances in neuroscience to prevent violent crime.

New York Times reporter Jeffery Rosen wrote a procative piece in the March 11, 2007 Sunday Times Magazine, The Trials of Neurolaw: How advances in brain science could transform our legal system. Mr. Rosen reports that in the 1990's, neuroscience evidence admitted in defense of a man who killed his wife hallmarked a transformation in the American legal system. The expert witness on the case, forensic psychologist Daniel Martell, started a consulting business, Forensic Neuroscience. Rosen reports that defense lawyers are now routinely ordering brain scans and arguing that violent criminals are unable to control their actions. Martell claims this has "'revolutionized the law'". Great for the poor dude with brain damage (sorry Anderson Cooper, if like Cho Seung-Hui's great aunt I lack sympathy [she had the good sense to call him 'Idiot!']) but what about the the rest of just hoping we can raise our kids and die peacefully before they do? Rosen raises the concern that as more brain scans are admitted in court as evidence, jurors and judges may be asked to distinguish between "normal and abnormal brains."

Roper vs. Simmons was the 2005 landmark Supreme Court case forbidding executions in juvenile offenders under the age of 18. The compelling reasons for the judgement were that adolescents lack neuronal development in the prefrontal cortex, the part of the brain where executive function is coordinated. In Roper vs. Simmons, the American Medical Association (AMA) argued that juveniles were less able than adults to control impulses and therefore should not be held fully accountable for their "immature neural anatomy". I certainly support that, but Mr. Rosen poses some troubling questions most cogently: "...should the courts decide to mitigate...criminal responsiblity..." due to improper brain function, whether it be due to trauma, genetics, environment or some deadly combination of factors? Do we need to redefine our ideas about justice?

Do we need to redefine our ideas about privacy? If defense lawyers are going to use neuroscience to defend criminals who is going to use neuroscience to protect the rest of us? We know enough about Antisocial Personality Disorder and PET scans to be able to predict who might enact violent crimes. We now have Megan's Law with a Registry for Sex Offenders. New York has Kendra's Law to enforce treatment of the mentally ill after a schizophrenic pushed Kendra in front of a subway train. Maybe we need a VT law with a public database of all known persons with potentially violent tendencies, give them mandatory GPS bracelets and preclude them from purchasing weapons or getting a licence to operate machinery. Any other ideas?

For related posts on this subject see:
Messed Up Guys with Guns: National Youth Violence Prevention Week

Asians and the Stigma of Mental Illness: National Minority Health and Health Disparities Month

Thank you rahid1 for use of the photo.

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Thank you Fat Doctor, for Grand Rounds 3.30!

Fat Doctor is a self described "Obese physician/patient reflects on life in the clinic and at home. Occasionally whining." She is also a TV addict. I wonder if we like the same shows? Anyway, she was nice enough to include my post,

XDR TB: Extremely Drug Resistant, Extremely Scary in this week's Grand Rounds, a weekly round up of the best darn reading in the medical blogosphere. Check it out for education and entertainment! It's much better than watching an episode of Grey's Anatomy. I hate those whiners anyway. For more global health issues read:

Global Healthbeat: AIDS in India

World Water Day: 4500 Children Die Daily

For musings on something closer to home:

Messed Up Guys with Guns: National Youth Violence Prevention Week

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Understanding Stem Cells and their Potential

The National Institutes of Health (NIH) offers a great primer called Stem Cell Basics. If you read newspapers, watch TV, listen to the news or have kids in school, you are no doubt hearing about stem cells and stem cell research. Maybe you voted on it in a recent election. Maybe your church thinks it is evil. If you didn't graduate from college in the past 6 years, you may be afraid to admit you don't quite understand the issue.

• Stem cells are basic cells that have the potential to develop into many other different cell types and possibly repair any body part as long as the being is living. That means that they are still "unspecialized", so a scientist may have the potential to manipulate a cell to develop into, say, a brain cell or a heart cell or a pancreatic cell. You can imagine that this would be useful to someone with brain damage, cardiac disease, or diabetes. A new field of medicine is developing from this scientific pursuit, called Regenerative or Reparative Medicine.
  

There are two different types of stem cells that researchers work with:

• embryonic stem cells are derived from 5 day old embryos that have not been implanted in a uterus and were created by in vitro fertilization (IVF)
• adult stem cells are unspecialized cells found in differentiated tissue. Scientists are not sure yet exactly how they function. Do they generate replacement cells for those that are lost through normal wear and tear, disease or injury?
  

Stem cells differ from all other cells in that they:

• are able to divide and renew
• they are unspecialized
• they have the property of plasticity
  

These properties offer a lot of hope, especially to those trying to unravel the mysteries of neurodegenerative diseases like Huntington's Disease. Neurological cell death has always been seen as hopeless, and generations of health care practitioners and scientists have been taught that once the brain starts wasting, as in the genetic illness Huntington's Disease, there is not much that can be done to reverse the process.

So horrifying is the specter of being diagnosed with Huntington's Disease, that many with a genetic history of it agonize about whether to even to be tested. Huntington's is a progressive wasting disease of the brain itself with a single faulty gene on chromosome 4 repeated in multiple copies. The human body is a interplay of proteins working together. Genes are a type of protein, which mutate or change. In the case of Huntington's Disease, the mutated gene causes, in adult life, damaged proteins to aggregate in the brain which destroy the neurons in the brain. People with this disease lose their speech, their personality changes, they become demented, they can no longer care for themselves, they become anxious, agitated, disoriented, and demented. Yet their loved ones are left to care for them.

Thank you merfer_99 for use of your photo Vena Cava.

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YOU Say: Genital Integrity Rules!

My previous post, WHO says: Male Circumcision Should be Part of HIV Prevention, reporting the World Health Organization's (not my own!) recommendations that male circumcision be part of a comprehensive plan to help prevent HIV transmission hit a nerve. Sixty percent of males are not circumcised and many insist the practice is barbaric and nothing short of mutilation. The International Coalition for Genital Integrity (ICGI) exists to protect the rights of all humans to have the genitalia they were born with: males, females or intersexed. The Genital Integrity Movement "opposes medically unnecessary genital modification including male and female circumcision."

In 1949 pediatrician Dr. Douglas Gairdner published The Fate of the Foreskin in the British Medical Journal. He concluded then there was little medical value to performing the operation. The foreskin of the penis is rich in nerve endings, and studies show that male circumcision decreases sexual sensitivity and pleasure in males and their partners (of either sex).

Nobel Laureates Dr. Crick and Jonas Salk signed the Ashley Montague Resolution to End the Genital Mutilation of Children Worldwide A Petition to the World Court The Hague. Ok, scientists at WHO, now what do you recommend?

Image courtesy of Genital Integrity: Genital Integrity. © 1998 NOHARMM

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Thank You Dr. Keagirl, for Grand Rounds 3.28!

Dr. Keagirl, a self-described frustrated veterinarian with allergies turned urologist and blogger, hosted this week's version of cyberspace Grand Rounds at her website
Urostream:Random Thoughts and rants from your Friendly Urologist

Lots of interesting posts are featured. She was kind enough to include my recent post:
WHO Says: Male circumcision should be part of HIV prevention

For further musings on AIDS, see:
AIDS: Why are people of color hit so hard?

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