Rare but Strong Together

Happy February 29th!  A rare day that comes only once every 4 years. Talking about rare – today is also Rare Disease Day.

In the US, a rare disease is defined as one that affects fewer than 200,000 people.  However, as it turns out rare diseases are actually not all that rare.  In fact there are nearly 7,000 rare diseases affecting almost 30 million Americans. In other words, as many as one in ten Americans are suffering from a rare disease.

Most of my life, I have been involved in some capacity with rare diseases, some of them very rare indeed. While working in the field of transfusion medicine, I became something of an expert in factor II deficiency. This is is an inherited bleeding disorder caused by reduced activity of factor II (prothrombin). Characterized by muco-cutaneous bleeding symptoms, less than 50 people worldwide have been diagnosed.

My work has also brought me into contact with the patients and families affected by a number of rare primary immune deficiency diseases. Most notably among these – ataxia telangiectasia (A-T).  A-T is a progressive degenerative disease marked by ataxia (a lack of muscle control that results in wobbliness and slurred speech); telangiectasia (tiny red spider veins which appear in the eyes, ears or cheeks); immunodeficiencies (low levels of antibodies resulting in increased susceptibility to infections) and a predisposition to cancers such as lymphoma and leukemia.   A-T is thought to affect less than 100 families in the US, and I have been fortunate and humbled to meet most of them. The pictures of some of these children sit on my desk and serve as a daily reminder of why I do what I do. Their daily challenges remind me how inconsequential are my own.

More recently, my EMS work brought me into contact with Hunter syndrome (mucopolysaccharidosis type II). Hunter syndrome is an inherited disease in which the patient lacks an enzyme  (iduronate sulfatase) to break down complex sugar molecules (mucopolysaccharides). As such, sugars accumulate in various body tissues causing severe mental retardation, spasticity, enlarged organs, cardiac defects and deafness. Less than 2,000 people are affected worldwide, fewer than 500 of them in the United States.

Besides dealing with their specific medical problems, people with rare diseases often struggle to get a proper diagnosis and treatment.  Rare Disease Day is about increasing the recognition of rare diseases as a global health challenge and raising awareness of the common challenges and experiences faced by rare disease patients and families.

Rare Disease Day was first observed in Europe in 2008. In 2011, over 60 countries participated and it is hoped that even more will do so this year.

For 2012, the focus of rare disease day is solidarity and the official slogan is “Rare but Strong Together”.  The main aims include:

  • Extensive media coverage
  • Social networking blitz
  • Creating a Rare Disease Physician Database
  • Encouraging patients to share their stories, videos, photos, and blogs including to their local media and through social media
  • Joining hands with others worldwide
  • A three day advocacy and awareness event in Washington, DC at the FDA, NIH and on the Hill
  • Support in-school initiatives in high school biology classes and middle and elementary school classes to implement grade appropriate lesson plans for rare diseases
  • Create tool kits that can help individuals and organizations plan and implement events and awareness activities focused on rare disease day
  • Establishing online photo galleries for the “Handprints Across America” and “Visions of Solidarity” initiatives for patients to express their view of international solidarity in the rare disease community and show the support across the country for this day
  • Update a portal for a user-friendly system to send letters to Congressional Representatives so patients can teach their legislators “Rare Diseases 101”

To find out more about rare diseases and the activities going on today in your area please visit the Rare Disease Day Website.

And the Winner Is…

This morning’s headlines are full of the news from last nights Oscar’s.  The winners, the acceptance speeches, the dresses, the drama.

SRxA’s Word on Health is not going to add to the speculation over the alleged JLo wardrobe malfunction, or weigh in on Sacha Baron Cohen‘s Dictator spilling ‘ashes’ all over Ryan Seacrest. Instead, we’re taking a look at the accuracy of some of the health themes explored in two of the night’s biggest winners.

The Artist picked up five awards including best picture, best actor and best director. We also give it our nod for the way in which it depicted carbon monoxide poisoning.

In the film, George Valentin, a fading, former film icon is bereft and broke. Realizing that studios no longer want to hire him, in a fit of drunken depression, he sets fire to his films. Smoke fills his squalid apartment and George passes out.  Fortunately for him, his faithful dog escapes, alerts a policeman who is then able to save the dying George just in the nick of time.

A true Hollywood happy ending of course, but also an accurate portrayal of carbon monoxide poisoning. In the 1920’s, film was made from nitrocellulose, which is highly flammable. As it burns it produces smoke and carbon monoxide.  Victims of this odorless gas typically become light-headed, confused and then pass out. If enough carbon monoxide is present, people die of asphyxiation.

The Iron Lady, resulted in a well-deserved 3rd Oscar for Hollywood leading lady, Meryl Streep. Her brilliant portrayal of the former British Prime Minister, Margaret Thatcher provided an insightful look at her descent into Alzheimer’s-type dementia.  The movie intersperses Thatcher’s victories as Britain’s first female leader with the disease that has dominated her recent years.

Her character displays textbook dementia: memory loss, forgetfulness, hallucinations, talking to ghosts, moments of clarity interrupted by profound paranoia and denial.

As anybody who has taken care of an aging parent with dementia will know all too well, in the early stages, patients deny, deny, deny that anything is wrong, probably because they reality of what they are facing is just too devastating.

Word on Health congratulates all the Oscar winners and those behind the scenes for their realistic health insights.

Pills That Pack On Pounds

If you are one of those people who are overweight  and would love to blame something other than too much food or lack of exercise, this blog is for you.

According to the Harris County Hospital District’s Drug Information Center, weight gain or loss may not always be attributed to lifestyle. For some, it’s due to the medicines they’re taking.

Certain meds can cause significant weight changes. For example, weight-related side-effects are common in medicines taken by patients with diabetes, high-blood pressure and mental health conditions.

Those likely to experience weight increase include people taking steroids and women on birth control, while those taking antidepressants such as Prozac® and Wellbutrin® are likely to lose weight.

However, this does not mean you should immediately start making changes to your medication regimen. Drugs are weird. They do different things to different people and it’s often impossible to predict which people will have which side effects from which drugs.

Because of the stigma of weight gain, patients may tend to stop taking their medicines or decrease their dosage without talking to their physician,” says Ryan Roux, PharmD, chief pharmacy officer, Harris County Hospital District. “Doing this is a bad thing. It can affect your health in a number of negative ways.”

Instead, it’s important that you tell your physician about any weight changes and then reassess the drugs or dosages taken. The more you can become actively involved in your treatment and be informed about long-term medication use, the better.

Not sure if the meds you’re taking could be to blame?

SRxA’s Word on Health brings you a list of some common medications and their weight side effects listed both by brand and generic name:


Weight promoting

  • Actos® (pioglitazone)
  • Amaryl® (glimepiride)
  • Insulins

Weight loss or weight neutral

  • Byetta® (exenatide)
  • Januvia® (sitagliptin)
  • Symlin® (pramlintide)
  • Metformin
  • Precose® (acarbose)


Weight promoting

  • Lopressor ® (metoprolol)
  • Tenormin® (atenolol)
  • Inderal® (propranolol)
  • Norvasc® (amlodipine)
  • Clonidine


Weight promoting

  • Paxil® (paroxetine)
  • Zoloft® (sertraline)
  • Amitripyline
  • Remeron® (mirtazapine)

Weight loss or weight neutral

  • Wellbutrin® (bupropion)
  • Prozac® (fluoxetine)


Weight promoting

  • Clozaril® (clozapine)
  • Zyprexa® (olanzapine)
  • Risperdal® (risperidone
  • Seroquel® (quetiapine)
  • Lithium
  • Valproic Acid
  • Carbamazepine

Antiepileptic Drugs

Weight promoting

  • Carbamazapine
  • Neurontin® (gabapentin)

Weight loss or weight neutral

  • Lamictal® (lamotrigine)
  • Topamax® (topiramate)
  • Zonegran® (zonisamide)

As always, we advise – for more information about the effects of medicines, consult your physician or pharmacist.

Heart Health Hits Home

As I child, I didn’t understand the concept of death, as an adolescent I thought  I was invincible, as a young adult, death was something that happened to grandparents, parents and their friends. But now I’ve come to the point in my life, maybe it’s the final step in growing up, when I suddenly realize it could happen to me.

Why the sudden comprehension of mortality?

Last week, two of my closest friends almost died.  One was sitting in my kitchen, drinking wine and catching up on the latest neighborhood gossip, when he remarked he didn’t feel well. A few questions and a blood pressure reading later, we were testing the limits of my car’s performance on route to the local Emergency Department. A few hours and a few tests later, he was in a Medevac helicopter and on his way to emergency cardiac surgery. Thankfully, he’s home now, doing well and embellishing the story of his MASSIVE heart attack, brush with death, and quadruple bypass surgery with each passing day. (Actually it was just a stent, placed under local anesthetic – but let that be our secret, I wouldn’t want to ruin his 15 minutes of fame!)

The other , a fabulous, funny, vibrant woman, suffered a thrombotic stroke and also ended up being hospitalized and having surgery.

Prior to these events, both friends had been generally healthy. They both exercised, they both watched their weight and neither saw these life-changing events coming. Their brush with mortality was the wake-up call they needed, and further lifestyle changes are being implemented as we speak.

It was also the wake-up call I needed. Yesterday I rejoined the gym and resolved to exercise more, eat and drink less and visit my doctor more often.  Nearly losing my friends was the inspiration I needed.

Cardiovascular disease is the leading cause of death in the United States; one in every three deaths is from heart disease and stroke, equal to 2,200 deaths per day.

“Heart disease takes the lives of far too many people in this country, depriving their families and communities of someone they love and care for—a father, a mother, a wife, a friend, a neighbor, a spouse. With more than 2 million heart attacks and strokes a year, and 800,000 deaths, just about all of us have been touched by someone who has had heart disease, heart attack, or a stroke.”  says Department of Health and Human Services Secretary, Kathleen Sebelius.

Recently, the American Heart Association/American Stroke Association  joined forces with Million Hearts™ to build healthier lives free of cardiovascular disease and stroke. As part of this they have developed a heart attack risk calculator and a life check calculator to help you understand your cardiovascular health and move you closer to your life goals.

For those, still looking for a motive, I highly recommend viewing a “Living Proof” video, created by physicians, nurses and patients at MetroSouth Medical Center.

In it, heart disease survivors and those who have lost loved ones to heart conditions used cardboard signs to deliver an urgent call to action. Their main messages?  Get screened for heart disease and early intervention and prevention pays off.

February is National Heart Month and I for one am taking notice.  Are you?

Fit to be President?

President Barack Obama knows a thing or two about fitness. Photographers have snapped him playing golf in Hawaii on Christmas Eve, doing impromptu pull-ups before giving a speech in Montana, and even playing a game of pick-up basketball on Election Day. His love of these sports, coupled with his well-documented gym habits and disciplined diet, has led the media to herald Obama as the new face of presidential health.

But, as SRxA’s Word on Health has learned, not all American presidents have been such model specimens of health. Some of them, far from it.  In fact, disease, injury, and destructive habits have run rampant in the 43 commanders-in-chief.

To mark this President’s Day we decided take a look at some the least healthy presidents in American history.

James Monroe, the Fifth President (1817-1825) was shot with a bullet during the Battle of Trenton.  To save his life, a doctor stuck his index finger into the wound to stop Monroe from bleeding out. In 1785, Monroe contracted malaria while visiting a swampy area of the Mississippi River. Sporadic feverish flare-ups plagued him for years afterwards.

In August 1825, Monroe suffered a severe seizure. Though the cause was never pinpointed, it’s speculated that it was triggered by either mushroom poisoning, a stroke, or cerebral malaria.

In 1830, Monroe developed a chronic lung illness that crippled him for several months, leaving him with labored breathing, fever, night sweats, and a nagging cough that sometimes had him spitting up blood. Though never officially diagnosed his symptoms are strongly suggestive of tuberculosis.

Theodore Roosevelt, the 26th President (1901-1909) was a frail and sickly child. In the hope of alleviating his asthma and other ailments Roosevelt was encouraged to do lots of physical activity. Boxing became one of his favorite hobbies. However, after being elected to the White House, he suffered a blow to his left eye resulting in a detached retina which left him blind on that side. Later he also lost the hearing in his left ear as a result of surgery necessitated by a middle ear infection

Roosevelt then contracted malaria and suffered an infected leg wound during an expedition into the Amazon rainforest. These injuries resulted in chest pains, high fever, and delirium. Though he didn’t die, he returned to America in a decrepit physical state, and was often unable to leave his bed for years afterwards.

Ronald Reagan, the 40th President (1981-1989) had many well documented health problems. Just like Roosevelt, these included hearing and sight issues. Reagan was so nearsighted that he was disqualified from serving during World War II. Later, when he got glasses, he was surprised to see that trees had leaves – something he’d never known before.

Reagan used a hearing aid in his right ear early in his presidency but later started wearing one in his left ear. It’s been speculated that his hearing was damaged during his early years as a Hollywood actor, when he was exposed to repeated loud gunshot during the filming of his Western movies.

Other health problems included multiple urinary tract infections, prostate stones, colon tumors and skin cancers.  Finally, though he was famous for having a near-photographic memory during his prime, Reagan’s memory deteriorated when he hit his 70s, and he would sometimes forget the names of key staffers and visiting dignitaries. He was diagnosed with Alzheimer’s Disease in 1994.

Woodrow Wilson, the 28th President (1913-1921) suffered from hypertension, headaches, double-vision and multiple strokes throughout adulthood. His third stroke, in 1906, left him blind in his left eye. Finally, in 1919, the president suffered a massive stroke that paralyzed his left side and forced him into a wheelchair. Wilson decided to keep his condition a secret from the public, so isolated himself in the White House, where for the last 3 years of his term his wife Edith made all presidential decisions for him.

, the 34th President (1953-1961) was a four-pack-a-day smoker. He also suffered from Crohn’s disease and gallstones, both of which required surgery. In 1955 Eisenhower suffered a heart attack so severe that his cardiologist advised the president not to run for a second term. Eisenhower ignored his advice, ran, and was reelected. His second term was marred by even more heart trouble: during a five-month span in 1968, he suffered four heart attacks and 14 cardiac arrests. These weakened him to the point where he could only be out of bed for 45 minutes a day, and he died the next year.

John F. Kennedy, 35th President (1961-1963) is remembered as a glamorous, tragic playboy, assassinated too young. What’s less well know is the litany of health problems he suffered throughout his life.

Kennedy’s childhood was riddled with health issues. At 2 years old, he contracted measles, whooping cough, chickenpox and then scarlet fever, which almost killed him. Later in his childhood, he frequently had upper respiratory infections and bronchitis, as well as allergies, frequent colds, asthma.

During his teens, Kennedy underwent an emergency appendectomy, had his tonsils removed, suffered a severe case of pneumonia, and two episodes of jaundice.

While studying at Harvard, Kennedy contracted urethritis, an inflammation of the urethra that results in painful urination. As he failed to seek immediate treatment, this became a chronic problem for many years.

After years of suffering back pains, Kennedy was diagnosed at age 30 with Addison’s disease, a rare endocrine disorder that generally results in fatigue, muscle weakness, nausea, and bronzing of the skin. Kennedy was so ill that he was given the last rites and physicians speculated that he would die within the year. However, steroid therapy and experimental medicinal implants of hormones, animal organ cells, vitamins, enzymes, pain killers and amphetamines and kept him alive. Then in 1966, he was diagnosed with hypothyroidism. The presence of two endocrine diseases raises the possibility that Kennedy had autoimmune polyendocrine syndrome type 2 (APS 2).

We wish all our readers a Happy and Healthy President’s Day.

Liar, Liar, Doc’s on Fire!

Think your doctor is telling you the truth?  After we’ve literally bared our bodies and souls to them, you’d think they would give us the truth, the whole truth and nothing but the truth.

So it’s perhaps surprising to learn that a survey of U.S. physicians found that “some patients might not receive complete and accurate information.”  The findings were published in Health Affairs – a leading journal of health policy thought and research that explores issues of current concern in both domestic and international spheres.

The survey included approximately 1900 physicians specializing in primary care (internal medicine, family practice, and pediatrics) as well as specialists in cardiology, general surgery, psychiatry, and anesthesiology.  These physicians responded to a questionnaire exploring their attitudes about communication with patients.

Among the findings:

The vast majority of physicians completely agreed that physicians should fully inform patients about the risks and benefits of interventions and should never disclose confidential information to unauthorized persons.


  • Over 10% admitted to having told an adult patient or child’s guardian “something that was not true” in the past year
  • One-third of physicians did not completely agree with disclosing serious medical errors to patients
  • Nearly 20% said they had not “fully disclosed a mistake to patients” because of fear of being sued
  • About two thirds said they should disclose financial relationships with drug and device companies to their patients, the other third only partially agreed or disagreed.

These findings have raised concerns that some patients might not receive complete and accurate information from their physicians, and doubts about whether patient-centered care is broadly possible without more widespread physician endorsement of the core communication principles of openness and honesty with patients.

Do you want your doctor to tell you the truth, no matter what?  Is an omission of information ever acceptable?  Can a little sugar-coating be good?  Let us know what you think.

Were You Heartbroken this Valentine’s Day?

Did your loved one forget the flowers or cancel the candlelight yesterday? Worse still, did cupids arrow miss entirely, and you ended up getting ditched or dumped?

If so, you may well be feeling brokenhearted today. And before someone tells you there’s no such thing as a broken heart, take heart!

According to Dr. Binh An P. Phan, a cardiologist at  Loyola University, a broken heart is an actual medical condition. Broken heart syndrome can occur during highly stressful or emotional times, such as a painful breakup, the death of a spouse, the loss of a job or extreme anger.

Not that you’ll find the term “broken heart syndrome” in any medical text book.  Professionals refer to it as stress cardiomyopathy. During an extremely stressful event, the heart can be overwhelmed by a surge of adrenalin and other stress hormones. This can cause a narrowing of the arteries that supply blood to the heart, similar to what happens during a heart attack. Symptoms are also similar to those of a heart attack, and include chest pain and difficulty breathing.

But, unlike a heart attack, broken heart syndrome is reversible.  Over time, the symptoms go away. And unlike heart attack patients, people with broken heart syndrome do not suffer lasting damage to their hearts.  Their wallets maybe, their pride – almost certainly – but not their hearts!

Still, as it’s difficult to distinguish between broken heart syndrome and a heart attack, SRxA’s Word on Health advises anyone experiencing symptoms such as chest pain and difficulty breathing to call 911.

Who knows?  You could even meet your Valentine while getting checked out at the hospital!

Allergic to Valentine’s Day?

Does Valentine’s Day make you sick?

Those of us who don’t expect to receive cards and flowers tomorrow, would probably rather fast-forward to February 15th than endure a day of being surrounded by loved-up romantics.

However, it seems that it’s not only singletons who want to forget the 14th. People with food allergies may also want to give cupid a wide berth.

Having an allergic reaction immediately after kissing someone who has eaten the food or taken the medication that you are allergic to isn’t highly unusual,” says allergist Sami Bahna, MD. “However some patients react after their partner has brushed his or her teeth or several hours after eating. It turns out that their partners’ saliva is excreting the allergen hours after the food or medicine has been absorbed by their body.”

Symptoms of kissing allergies include swelling of the lips or throat, rash, hives, itching and wheezing.

When things turn more intimate, allergies can be even more disruptive. Allergists have seen cases of people experiencing allergies to chemicals in spermicides, lubricants, latex or even a partner’s semen. Some people even develop hives or wheezing from the natural chemicals released by their own body during sexual interaction.

So what are lovebirds to do?

If you suffer from food or medication allergies, before puckering up you should ask your partner to brush his or her teeth, rinse his or her mouth and avoid the offending food for 16 to 24 hours before smooching.  For people allergic to their partner’s semen, we suggest the use of condoms or better still, that you visit your allergist to discuss immunotherapy or allergy shots.

Whether you’re celebrating  Valentine’s Day tomorrow or not, SRxA’s Word on Health wishes you a happy and healthy February 14th.

A Personal Tribute to a Fallen Hero

As regular Word on Health readers know, several nights a week I take off my blogging hat and exchange it for my volunteer Fire and Rescue uniform. Together with my fellow firefighters, medics and EMTs we respond to emergency calls from our local community.

Whether it’s the proverbial cat up a tree, the baby who’s stopped breathing, a multi-vehicle pile-up or a home engulfed in flames, we are energized by the “lights and sirens” adrenaline rush and an overwhelming desire to help people during their worst hour. Rarely do we think about the dangers we face and we’re acutely uncomfortable when people tell us we’re heroes for doing what we do.

It takes a tragedy to put things into perspective. Yesterday, that tragedy struck at the heart of our community. As most residents of Washington, DC and Northern Virginia already know, we lost one of our bravest and finest. Paramedic, Joshua Weissman died after falling 30 feet into a rocky creek while responding to a vehicle fire on Interstate 395.

He was just 33 years old. He leaves behind a young wife, a successful career, family, friends, colleagues and the untold promise of life.

His legacy however lives on in the people he helped and the medic students he taught, myself included.

Josh gave his life to serve others and today we honor him and all the other first responders, emergency workers and law enforcement officers that have made the ultimate sacrifice in their selfless service of this great Country. We also extend our deepest sympathies to their family, friends and colleagues left behind.

Bad pharma or bad journalism?

SRxA’s Word on Health takes its hat off to Richard Meyer of Online Strategic Solutions Inc. for his recent  blog post in defense of the pharmaceutical industry.  In a world where bashing the Industry has achieved almost Olympic sport status, it’s good to hear the other side of the argument.

His article was in response to Paul Blumenthal’s piece in the Huffington Post entitled, “How Drug Companies Game Washington.”  This article lambasted the drug industry for the $2.3 billion it has spent on lobbying and the $183 million on campaign contributions since 1998. Blumenthal also pointed out that Pharma maintains a war chest for grassroots lobbying aimed at altering public opinion and deterring any legislative proposal that would lower costs for consumers and profits for the drug makers.

Countering these allegations, Meyer pointed out that the pharma industry is a business and it, like any other, has a right to make money.   He asserts that the original post is shortsighted and inaccurate at best. He criticized Blumental for failing to mention:

  • the great medical advances that pharma has made in disease such as AIDS and cancer
  •  the free drug programs that most companies have for people who cannot afford their drugs
  • that it costs over $1 billion to develop and launch new drugs
  • that only one out of every 8 or 9 drugs ever make it to market

Meyer also took issue with the assertion that drug companies are thriving fat cats and reminded readers that 50 -60 thousand people have been laid off from the drug industry in the past year because of changes in healthcare law and drugs coming off patent.

Sure, the pharma industry has a lot of skeletons in their closet but  it’s good for a change to be reminded of all the things they have done right, rather than the usual gripes about wrongdoing.