February 26, 2010

30 Million Americans, 7,000 Rare Diseases

Posted: 07:01 PM ET

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By Peter Saltonstall
Pres. & CEO of NORD - National Organization of Rare Disorders

While the eyes of the nation are directed toward Washington and the ongoing Health Care Summit, I wanted to take the opportunity to raise an issue that too often flies below the radar of the collective health consciousness – rare diseases.

In the United States, “rare” refers to conditions affecting fewer than 200,000 Americans. According to the National Institutes of Health (NIH) there are nearly 7,000 such diseases. These might sound like relatively small numbers on the surface, but collectively, nearly 30 million Americans suffer from these uncommon—and in some cases, unknown—conditions. That’s one out of every ten individuals in this country alone.

Across the nation, patients are plagued by unexplainable symptoms and a general lack of awareness regarding their conditions, forcing them to endure dismissals and misdiagnoses before ever receiving a proper diagnosis.

In support of the struggle and bravery of these patients, the National Organization for Rare Disorders (NORD) is celebrating the second annual Rare Disease Day in the United States this Sunday, February 28. NORD is collecting patient stories, photos and videos to raise awareness of specific rare diseases, to be featured on a special website for Rare Disease Day U.S. activities: NORD, along with its 150 member organizations and partners, serves as an advocate for these patients by heightening awareness of their conditions and the need for increased research funding for effective treatments.

One of these partners is Discovery Health, a television network well-known in the rare disease community for its popular medical mystery programming. Discovery Health has joined NORD for the second consecutive year as media partner for Rare Disease Day. In honor of the occasion, Discovery Health will premiere “Disease Detectives” at 8 PM ET/PT, an hour-long special featuring the first televised look into the NIH’s Undiagnosed Diseases Program (UDP), a unique program that combines the scientific and medical expertise with our enhanced resources in order to identify some of the most complex and problematic medical cases.

Although progress has been made in recent years, approximately 15 million Americans have rare diseases for which there still is no approved treatment. I encourage you to learn more about rare diseases—as the odds are you already know someone dealing with such a condition.

To learn more about NORD, visit

You can also CLICK HERE to learn more about Disease Detectives on Discovery Health.

Filed under: Health • Health Care

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HABIB HAYAT   February 26th, 2010 7:19 pm ET

Larry its really informative and lot of those I was totally unaware off.But the questions is whether the recent medical technology has any cure for them or those affected will continue to suffer to unknown periods.
I am sure Researchers must be taking steps to find out solutions and cure for these disease.

A. Smith, Oregon   February 26th, 2010 8:34 pm ET

The human body routinely heals well over 90% of the diseases and medical conditions which actually threaten it all by itself.

Many Billions of Dollars are spent by Americans seeking medical treatment from a Western Medical MD and are giving a drug which actually slows down the body's natural repair of that condition (commonly known as STEROIDS).

There is a huge monetary cash flow in treating a disease, there is a tiny and often non-existent cash flow in entirely getting rid of that same disease from the face of the earth.

The High Priority of Western Health Care is to treat, not solve nor in many cases Cure the patient but Milk them continuously of money.

The darker end of Western Medical Industry's make someone wonder if diseases that suddenly pop-up were not purposely manufactured to weed out a elderly population who routinely have a weaker immunity system. How many Hospitals in American alone were saved from Bankruptcy by the H1N1 virus release alone?

The Western Medical System is broken, there is simply too much graft, corruption and money in treating a disease or medical condition which the Western Medical system is entirely unable to treat, solve or cure either thru design or purposeful lack or research.

Hannah   February 26th, 2010 8:43 pm ET

It's very difficult if the Dr. has not had to deal with the specific disease before. Many times diseases have similar symptoms so, it's a matter of deduction. If you're overweight or obese the typical response is Lose weight. Last but not least–if you're female-–it's either it's all in your head or you're just anxious! Very frustrating!!

Hannah   February 26th, 2010 8:51 pm ET

@A.Smith-you talk re:Western Medical Industry-SARS came from China-a nasty disease !!! Our society will be having more rare diseases -–people travel more –bringing more germs ,viruses to areas they never were before.

A. Smith, Oregon   February 26th, 2010 8:56 pm ET

typo: Should have read;

The Western Medical System is broken, there is simply too much graft, corruption and money in treating a disease or medical condition which the Western Medical system is entirely unable to Solve or Cure either thru design or purposeful lack or research.

A. Smith, Oregon   February 27th, 2010 4:11 am ET

News Alert! A great earthquake of 8.8 320km from Santiago and Concepcion in Chile just occurred, a tsunami warning has been issued for the coasts of Chile, Ecuador and Peru. Thankfully that was 320km from Santiago! Chile often has minor earthquakes so its modern structures are often built to withstand moderate level earthquakes.

Any earthquake rated at 8.0 or larger is classified as a GREAT Earthquake because of the great amounts of energy being released. The exponential increase from a 7.0 to a 8.0 translates to a great deal stronger earthquake, and this one tonight was nearly a 9.0 !!!

A. Smith, Oregon   February 27th, 2010 4:46 am ET

A powerful earthquake with a preliminary magnitude of 6.9 rattled Japan's southern islands early Saturday, injuring two and initially prompting fears of a tsunami.

There were no reports of serious damage from the quake, believed to be the strongest in a century to hit Japan's southern Okinawa Island. Japan's Kyodo news agency said two people were hurt, but there were no reports of any deaths.

The quake occurred off the coast of the island of Okinawa at a depth of 6.2 miles (10 kilometers) at 5:31 a.m. Saturday (2031 GMT Friday), the Meteorological Agency said.

Jessie from Auckland, NZ   February 27th, 2010 5:37 am ET

There seems to be quite a lot of EARTHQUAKE activity going on at the moment and located around the regions known as the 'RING OF FIRE".

That earthquake that just happened in Chile gave me the shivers, bit close to home for my liking.


I say good luck in their endeavours with research into these RARE DISEASES and what good can come from them. It is quite frightening to hear all these statistics.

Jessie from Auckland, NZ   February 27th, 2010 5:39 am ET

Hope these are not ominous signs.

Ted   February 27th, 2010 12:32 pm ET

We have so many sick people, because they are fat, eat the wrong food and do not move enough. Very simple.

You can save on medical bills by doing what we do:

We march every day in 1 hour good 3 miles, regardless the weather.
Eat only fresh food, salads, vegetable, lean meat, mostly chicken, fish, turkey, all in small portions. Did not have a cheeseburger in 15 years, although sometimes I have hard time to say no.
My wife cooks with very little fat. no french fries, no fried potatoes.
We drink only a glass of wine or a beer or two, no hard alcohol.
No munchies in the house, such as potato chips and all that other junk with calories and chemicals to make you eat more.
We drink no coca-cola, pepsi or any other soda with sugar and chemicals that is killing you. Natural applejuice with sodawater is healthy and delicious.

Hard? At the beginning yes, but once you can disciplin yourself you will find how great to eat a large bowl of salad, or fresh vegetables or a small, but top quality meat!
The decision is yours, fat and sick or eating and drinking only healthy food and moving your behind off the couch.
The money you save by not buying the very expensive munchies and sodas you can use to buy better quality produce for your main dish!
Try it and good luck, in a few months you have to go to buy smaller pants and shirts.

Cajazz76:24:8   February 28th, 2010 3:16 am ET


Your a recipe for good health! Cheers!.

Diane Spencer   March 1st, 2010 1:42 pm ET

Thank you so much for this about rare disease day. I suffer from Stifff Person Syndrome and the life I used to have is completely gone. I will never be the old me again. I have turned it around for the good and fighting for awareness of this terrible disease. I am on the board of Stiff Person Syndrome Association and have started a cause on facebook for Support Stiff Person Syndrome Lack of Awareness. I have such a fire deep within my soul that I have vowed not to leave this earth without making a change for the future of anyone who suffers silently with this devestating disease. When I hear of children that are one day playing, going to school, normal and then within 6 months can't even get out of bed, I can't turn a blind eye to it and will continue to fight and on a mission and will not let anything stop me. I dream of a treatment center just for this disease. It would have research, treatment, assisted living for those that don't have caregivers, education and support for families, children's area, physical therapy, phychological therapy, everything under the sun that is needed for people that suffer with this nightmare. The medical field doesn't even know about this disease. Every doctor I go to (except the neurologist) go "Stiff what?". So you see my determination to make that change. Thank you, Diane Spencer

Betsey   March 1st, 2010 1:54 pm ET

I applaud your walking and eating habits, and am happy to hear that you feel better and are enjoying better health. No doubt many people might be able to recover from what ails them by embracing your approach. For those suffering from rare diseases, it is important for them to also eat well and exercise if they are capable, but sad to say, the results will not likely be as restorative for them as for you.

I do not have a weight problem, and I have always been an active person, studying dance in my youth, and working out consistently as an adult. My problem, an immune deficiency called CVID, is most likely genetic, although it is not all that well understood, which is one of the reasons that research is needed. I do not have enough antibodies, and in addition, my B-cells do not operate properly. B-cells are supposed to mature and take on a different function during the process of fighting an infection, and mine do not do that. When I am getting an infection I often do not show the signs, because my immune system doesn't fight back as it should. When seen by a doctor, I probably will not have a fever (because my body does not know how to do that anymore), and my lungs sounds are normal, so I can be sent away and told nothing is wrong. Prior to my diagnosis, I wondered why I was always so tired, and why I kept having sinus infections and strange feelings in my lungs, and terrible allergies. Finally, when I was 49 and sick again, my mother emphatically suggested that I needed a chest CT scan instead of an x-ray, because x-rays cannot detect problems in soft tissue. I had one, and found out that I have bronchiectasis, a lung disease which makes one prone to repeated infections due to lungs being unable to clear mucus. Unbeknownst to me and several doctors, I was having repeated lung infections that were operating on kind of a stealth basis, because my immune system was not sounding the alarm. After the bronchiectasis was diagnosed, my doctor then ordered blood tests to check my immune system, and that is how the immune deficiency was revealed. I now get intravenous four-hour gamma globulin treatments every four weeks, which helps with bacterial infections, but I am still at a much higher risk than the general population for several cancers, and also for auto-immune diseases and viral diseases. The treatments often cause migraines and flu like symptoms for a few days afterwards, so while they are life saving, they are not a lot of fun.

Finding out about this deficiency put a lot of mysteries about my health into perspective, such as why I sustained a large corneal scar as a child from a herpetic blister on my face that spread to my eyes, why I had a urinary tract infection years ago from a bacteria that supposedly could not live in the urinary tract, and why my three kids all had bacterial infections as tiny babies, when they should have been protected by the immunity conferred on them by me. I also had severe chicken pox at six months, pneumonia requiring hospitalization at three, and a host of other infections from things that healthy people would never get sick from. Apparently, I was better able to fight things off in my youth due to redundancies in the way the immune system works, but at some point, the burden became too great. People with CVID are often not diagnosed until later in life, when permanent damage has occurred in the sinuses and lungs, diminishing their quality of life even though they receive treatments.

My father had several odd bacterial infections in his youth, including cellulitis in his gums, as well as an abcess deep in his head, and sinus infections throughout his life. My mother did not have similar problems, but has thyroid disease and lung problems. CVID can come from both parents passing a recessive gene to their offspring, and primarily affects people of northern European descent. My Irish, English, and German blood put me at risk.

All that to say, I have spent years wondering why it was hard for me to keep up, why I was so tired, why I was becoming less and less productive. I cannot tell you how many times I thought I was just lazy, spineless, or a whiner. Despite my treatments, I am always tired. I now have periodontal disease, low thyroid function, headaches, shortness of breath, sleep problems, and a myriad of other symptoms. As pointed out in A. Smith’s post, the recommended medicines for some of my problems are steroids, which lower my ability to fight infection. Talk about a vicious cycle.

I have often wondered whether the discovery of antibiotics has been friend or foe. Maybe without antibiotic treatment I would have succumbed to a childhood infection, which although tragic, would have prevented me from passing on the problem to the rest of the world through my children. I am lucky to be deeply in love with a wonderful husband, to have awesome children, and a 92- year-old mother who adores me and my four siblings. I am hard pressed to imagine a woman on this earth who has more to live for than me. Nonetheless, when I contemplate a life of constant fatigue, and repeated infections, it makes me wonder how much fun I am going to have. Add to that the sadness I feel at being a burden to my family, the trips that have to cancelled last minute, and the fact that I sometimes totally fake feeling ok so that the joy of someone’s birthday, graduation, or wedding will not be marred by my illness, and you will begin to understand how globally this illness has affected me and everyone in my life.

It has been two years since my diagnosis, and I am coming to terms with the need to change the way I measure success, to be joyful when I feel well, and to get used to not being able to do many of the things I used to do. I am determined to live joyfully because I know life was meant to be a challenge. I know you meant well with your post, but for someone like me, it is hard to hear that all could be well if I just ate right and took walks. Your message may be appropriate for a large segment of the population, but this blog is celebrating the hard-fought awareness of devastating conditions for which there are no cures.

Callie   March 1st, 2010 2:44 pm ET

@ Ted, I'm with you brother....I have been an athlete all my life, so exercise is a way of life for me. I eat only fresh foods, nothing processed, drink plenty of water, & NO TOXINS. People are personally responsible for their heal & well-being, as soon as they become aware that they are personally responsible for their health & can't overeat, drink alcohol, smoke, go without exercise, proper rest, and nutrition, and expect to be healthy! It's that simple...I beleive that all illness & disease are energy based, as we are made entirely of energy....The body is built to self-heal, however, we must do everything that we can to promote health and well-being, including what we allow into our consciousness, as well as our body. To aid in optimum health, it is important to remove energetic imbalances, whether acquired or hereditary from our energy field that may impede our's all for Love...L.O.V.E...: ).

S.LaBerge   March 1st, 2010 2:47 pm ET

While I agree that many diseases would go away with a healthy diet and lifestyle, not all are caused by that. My son was born with Aperts Syndrome, a condition caused by a mutation of a chromosome. It is a very rare condition often caused by older fathers whose sperm has mutated. I don't believe that Western Medicine is the cure all, but in our case where many surgeries are required it is necessary. Other things like ADHD we are treating with a gluten & casein free diet as well as behavioral modification and are having tremendous results. There really needs to be balance, where natural and traditional medicine are working together.

A Mom   March 1st, 2010 2:51 pm ET

My youngest daughter has a rare neurological disorder called IH, Or Intracranial Hypertension, which causes severe headaches 24/7. There is little relief to be found for her. On the Pain Scale, her pain reaches between 3 to 9...depending upon many factors. Her IH is caused by a rare blood clotting disorder, called Factor V Leiden, which in turn causes microscopic blood clots. Those clots has clogged the areas of her brain that absorb spinal fluids, thus, causing Intracranial Hypertension. ... and the cycle continues. She is taking medications to slow up her bodies production of spinal fluids, and for thinning her blood. She still endures more pain than one can imagine.
As for diagnosis, it took over two, and a half YEARS, to be properly diagnosed. After seeing several specialists, in different states, and several Mis-Diagnosises. She was diagnosed, and rushed for an Emergancy surgery on her eye, then to return two days later, for a second emergency surgery on her other eye, as she was within hours of total blindness. She became ill with IH as a young teenager, and she is still living with it.
Research...LOL. That doesn't happen for diseases that won't bring the drug companies lots of money. There's little money in a few hundred thousnd people with rare diseases, as opposed to cancer, HBP, etc.
I applaud those who have brought some light to this issue. Any notice at all is welcome. Our children are sufferring every minute, of everyday.

macksi   March 1st, 2010 3:25 pm ET

I think most of you have no idea what you are talking about and should do some research before you begin spewing information that isn't true or is hurtful. I am a mother of an 18 month old who has a rare disease. She is not overweight or unfit. Her disease is not made up by the government. She is missing an important enzyme that you all have working just fine or you would be a little more sensitive in your comments. Many babies are dying at this moment from rare diseases, some have their skin falling off, some have muscles that are hardening up as they grow, the list goes on and on...Maybe you should think about this and put your energy into helping those who are in pain and suffering.

Callie   March 1st, 2010 5:12 pm ET

@Diane, you can still fight for your cause without having to suffer can be COMPLETELY HEALED...go to is the most cutting edge, effective, efficient method for removing energetic imbalances that are causing your 'symptoms'....the medical field as you say does not know about it as everyone has imbalances specific to them, and their energy field, including cancer not pass up this opportunity, check into and read the testimonials....and anyone else who is suffering with illness or will be amazed! ...there are no accidents in a Universe with an Intelligence (God) that supports & creates it. It's all for LOVE.....L.O.V.E..: )

Callie   March 1st, 2010 5:14 pm ET

@Betsey, go to can heal yourself....It's all for Love...L.O.V.E

Jfostar   March 1st, 2010 5:34 pm ET

Thank you Larry King! I was in health benefits for 34 years, the Director of the Fed program among other Sr Exec positions. I now suffer from 5 "rare" diseases that are most likely related as they are neurologically based. I couldn't even find a T shirt for all 5.... Thank God someone is focusing on where there is such a great need- The emotional and financial costs to undiagnosed disability and illness is staggering. Research and collaboration is the answer. We are far behind Europe in our care for rare disorders that impact millions.

Jim Carroll   March 1st, 2010 7:30 pm ET



A. Smith, Oregon   March 2nd, 2010 1:11 am ET

Ten's of thousands of American Medical Associated MD's thru-out America are threatening to DUMP the very few Medicare patients they have under their care because of a Republican stipulated bill which would strip Physician reimbursement some 20% of what it previously was.

Many MD's I have worked with refuse to have any more than a token number of medicare patients because they don't make a huge amount of money on them.

Now it appears MD's are upping their slipping creditability and community standing by entering into the arena of Blackmail threatening to drop the few Medicare patients they have if the US Government further lowers the reimbursement for the Physicians treating the Medicare patients.

I imagine Physicians are hosing their patients even more now to quickly make up for all of their investments that failed when the US economy tanked last year. Physicians have debts and obligations so they are passing that on to exorbitant procedures, price hyper-markups and as many follow-up visits as they can shoe-horn in.

Vicki   March 2nd, 2010 8:58 am ET

Just can not thank you enough for drawing attention to this subject! We have a little guy (31 months old) With a chromosome 6p25.1 deletion and 7q21.13 duplication. He has a whole array of medical and physical issues...and there is no name for this syndrome, as he is the only known case of this, world wide!! Our prayer is that since RARE DISEASE DAY is now being observed in so many states (as well as ours -Indiana!!) Federal funding will become available so that there can be research, education, and awareness on these Rare diseases and disorders!

No parent should ever have to go through what we have....Sitting and listening to a doctor say "We just do not know what this means, or what the future will hold!"

We want answers, and we are so very thankful for all of those who are trying to make this dream become a reality!!

Denise DiFalco   March 2nd, 2010 10:08 am ET

As one who suffers with a rare disease...a heartfelt thank you, Mr. King for mentioning this day's significance!

Ted   March 2nd, 2010 10:40 am ET

@ Diane and Betsey

I am sorry for your health problems, I had a few before I got religion!
My doctor asked me about 20 years ago if I wanted to have a long life or plan to die early. He sure got my attention!!
I did different sports regularly, was never fat, but enjoyed life in a full swing, eating and drinking more than I should have.

Many of the modern day illnesses are caused by the tainted food most people eat and the laziness that swept over our nation! Nobody walks 5oo yards if you can drive to it.
If you ever read what a can of spaghetti with meatballs contain you appetite should be gone! There are 10-15 chemicals in a TV dinner and nobody knows what are the long range effects. I bet my last martini that many of those rare illnesses are caused by the years long consumption of such chemicals and mothers pass this over to their children at birth. Food companies fill everything with chemicals that make you hunger for more of the same, making you fat in a long time.

My way of staying healthy will nor cure all illnesses, but walk 3 miles a day at least 5 days a week and see what happens to a headache. My wife was cured of the same.
The human race was a collector/hunter being, walking up to 30 miles a day. I bet those guys were not fat, did not have headaches, (except when they got a club banged over their nut), and did not have all those illnesses we have today.
And they lived to the grand age of 35!!!!!

A Jefferson   March 2nd, 2010 2:03 pm ET

To those of you who do not understand RARE diseases... they are RARELY the result of living an unhealthy lifestyle. Being overweight brings about COMMON problems as does smoking, drinking, eating poorly, not exercising, not enough sun, and other human induced environmental factors. RARE diseases commonly are the product of genetic mutations of our very DNA that change or prevent those of us who suffer from having a normal life with common health issues brought on by lifestyle. Many of us with RARE diseases search years, see countless doctors, try endliess regimes of treatments, tests and medications just for the hope of being COMMON. As a person with a RARE disease myself, I would challenge those of you who attack with a get healthy, be healthy sermon here. What would you do if your body was born with a rare disease, what if one morning you awoke to symptoms of something terribly wrong with you and your quest for health was squelched by a new desire just to carry out day to day activities? Who then would you blame? A healthcare system? Your diet? Someone else's failure to provide you with answers and good health?

I challenge some of you to go through hundreds of appointments to control a disease that is not well known. I wonder if you too would have the stamina to go to work every day like I do, raise three children, contribute to society and be able to accept the happenings of your body as a genetic, mutated, or failing system in your body. I question if some who condemn those of us who are ill through no fault of our own if you could handle the reality that there is no treatment for you. Could you live with handfuls of medication to experiment with your body? Where would you turn when all natural and lifestyle remedies of other medicine had failed you?

Would you turn to modern medicine? My bet is certainly! Would you insist that social healthcare that takes care of a general population and mandates your care based on the amount of social dollars available is the way to go for your mysterious disease? Would you cry infair, take care of me? Or, would you batton down the hatches like many of us do? We fight against the disease, the doctors, the drug companies, the hospitals and the government who tell us we can't be treated sucessfully, we do not qualify for a social healthcare program because of the nature of our illness. We will have to take care of ourselves..

Shame on you who posted the indications that RARE disease was a result of personal choice! Just a good example of why RARE diseases need brough to the attention of our communities. RARE diseases do not always fall on those who mistreat their bodies or have little faith. In fact I would state they happen to the very innocent and unsuspecting crowd who would like nothing more than to walk 3-5 miles a day, visit churct, eat a well prepared meal, avoid environmental toxins and live a healthy common life. For many of us, living in your community requires a strong heart, a willful mind and a spirit to not let our body win just to begin each day.

Some of your critical responses here just solidify my fears of the discrimination we face so frequently. Not only are we shamed by doctors who don't know how to treat us, a medical community as a whole, some who are closest to us, but now it is very apparent, some who may never know us at all. Who may never walk a step in our shoes.

What a dishonor you have brought to the atmosphere. RARE disease day was to raise awareness for those who are diagnosed so that people would be able to understand the impact of these diagnosises. I know the NORD organization did not put so much into this day to be told how RARE disease sufferers should change or live by people who are ignorant about the spectrum alltogether.

Callie   March 2nd, 2010 5:47 pm ET

@ Jefferson....go to believe that the balancing frequencies for your RARE disease may be on the program, along with 500,000 other balancing frequencies, for any disease known to mankind, and those that are not., hereditarily or acquired. Whatever it is, it can be healed. The developer of the aim program, Stephen Lewis also offers a free scholarship program for children/adults with autism/downs...yes, they can be healed as well. I believe that there are 3-5 frequencies that make up the disease known as Autism... Another website that may be beneficial; is a medical school professor and won the 2009 GOI award...2008 was awarded to Bill Gates. He wrote the Best Selling book, " The Biology of Belief", 'Fractal Time', and many others...a brilliant man...and also the new science of Epi-Genetics, now taught in medical schools, which states that, " you are no longer a victim of your genes, that the mind controls that genes"...the mind is above (epi) the genes....I wish you the best of health!...It's all for Love...L.O.V.E

A Jefferson   March 3rd, 2010 12:07 pm ET

@ Callie, it seems you are taking advantage of this blog for the free advertising for your program..

Callie   March 3rd, 2010 1:22 pm ET

@Jefferson. It seems that you made an incorrect assumption. It is not my program, nor do I work for or am affiliated with them,. I was merely reaching out wtth compassion to a man in obvious pain, with 3 children to raise, and trying to help. Skepticism does not Heal....being open & receptive to opportunities does.

Linda   March 11th, 2010 3:46 am ET

I am one of those patients with a rare disease and there is no known cure. My Doctor has 2 of us with this disease which makes him our local expert. Only about 300 of us are diagnosed in a years time. They do not know what causes the disease.

Anything we can do to raise awareness for these diseases is a step forward for all of us. It could happen to anyone of you anytime, as it did to me. Thanks to what little we know, I am hanging in there. But we need so much more.

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