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Haemochromatosis (iron overload disorder) is one of the most common hereditary diseases. Around one in 200 Caucasian Australian people have a genetic predisposition to this disease – meaning that they may get it.
Haemochromatosis is characterised by the excessive absorption of iron. Normally, excess iron is safely stored in various joints and organs in the body, particularly the liver. In a person with haemochromatosis, iron stores keep rising and, over time, the liver enlarges and becomes damaged, leading to serious diseases such as cirrhosis.
Other problems that can be caused by excessive iron include heart disease, diabetes and arthritis. Both sexes are at risk, but women tend to develop the condition later in life, since regular menstrual periods deplete the body of iron. Haemochromatosis tends to be under-diagnosed, partly because its symptoms are similar to those caused by a range of other illnesses.
Iron is a vital trace mineral
Red blood cells contain a protein called haemoglobin, which carries oxygen. Iron is needed for production of this particular protein, and the iron in food is absorbed via the small intestine. The human body has no method of excreting excess iron, so any excess is normally stored in the liver, with no ill effects.
The body typically stores around one gram or less of iron at any given time. However, a person with haemochromatosis absorbs a great deal more iron from their food than is necessary. Iron stores of five grams or more build up inside the body. Organs such as the liver, heart and pancreas are affected and ultimately damaged. Without treatment, haemochromatosis can cause premature death.
Symptoms of haemochromatosis
Early haemochromatosis has no symptoms. However, in its later stages, haemochromatosis presents a variety of symptoms, and not all people will experience the same signs. Many symptoms are similar to those caused by other illnesses, which partly explains why haemochromatosis may be overlooked as a possible diagnosis.
Some of the symptoms include:
- weakness and lethargy
- weight loss
- joint pain, usually in the joints of the second and middle fingers
- abdominal pains
- liver dysfunction
- sexual dysfunctions, such as impotence and low sex drive
- disorders of the menstrual period, such as early menopause
- loss of body hair
- skin darkening
Causes of haemochromatosis
Haemochromatosis is a recessive gene disorder caused by mutations of the haemochromatosis (HFE) gene. To develop a recessive gene disorder a person needs to inherit the gene mutation from both parents. If a person inherits only one mutated HFE gene, they are known as carriers.
Around one in seven people carry the mutated HFE gene. A carrier won’t develop the condition themselves, but may pass the mutation on to their children. If two carriers conceive, their child has a 50 per cent chance of inheriting one mutated HFE gene and becoming a carrier, and a one in four chance of inheriting both mutated HFE genes and developing the disease. A simple blood test can establish whether a person is carrying the mutated HFE genes.
Treatment for haemochromatosis
A person with haemochromatosis is treated with venesection. This is a procedure similar to blood donation, where around 500 mls of blood is removed until iron in the blood is reduced to normal levels. Depending on the severity of the condition, this may take around one and a half years of twice-weekly visits.
Once iron levels are normal, venesection needs to be performed three or four times every year for life. If haemochromatosis is treated in its earliest stages before severe organ damage has occurred, there is no reduction in life expectancy – other things being equal.
Lifestyle changes with haemochromatosis
A person with haemochromatosis can better manage their condition by making a few simple lifestyle changes, including:
- not taking iron supplements
- not taking vitamin C supplements, as vitamin C increases iron absorption.
- reducing alcohol intake, as metabolising alcohol can stress an already compromised liver.
- reducing or limiting iron-rich foods such as offal.
Preventing organ damage from haemochromatosis
If a person is diagnosed before significant symptoms arise, they can prevent organ damage and disease symptoms by maintaining iron in the normal range. However, a person diagnosed with the condition should notify all blood relatives so they can be tested for the HFE genes and treated if necessary.
Anyone with disorders including liver disease, cardiomyopathy, arthritis or impotence should be tested for haemochromatosis. This underlying condition (haemochromatosis) could be causing their secondary illnesses. Prompt treatment can reverse some organ damage and symptoms, and prevent further damage.
Where to get help
- Your doctor
- Haemochromatosis Australia information line Tel. 1300 019 028
Things to remember
- Haemochromatosis is a common inherited disorder, which causes the body to absorb more iron than usual from food.
- Haemochromatosis tends to be under-diagnosed, partly because its symptoms are similar to those caused by a range of other illnesses.
- Treatment includes regularly removing blood until iron levels normalise.
HYQA_Ed3_2014Web < PDF DOC ON IRON OVERLOAD DISEASE HERE
THE INCIDENCE OF AUTOIMMUNE DISEASE has tripled in the last few decades. 24 million Americans are now affected. In fact, it affects more women than heart disease and breast cancer combined. But autoimmune disease isn’t just one condition.
You’re probably familiar with the most common autoimmune diseases, like rheumatoid arthritis, lupus, multiple sclerosis, inflammatory bowel disease, type-1 diabetes, hypothyroidism, and psoriasis. But there are many more autoimmune diseases that affect the nervous system, joints and muscles, skin, endocrine gland, and heart.
Simply put, autoimmune diseases are conditions where the body’s immune system attacks its own tissues rather than a foreign molecule like bacteria. This happens when something confuses the immune system. Increasingly, that “something” appears to be the enormous load of environmental toxins to which we are all exposed.
The groundbreaking book, The Autoimmune Epidemic, by Donna Jackson Nakazawa is a breath-taking piece of investigative journalism that seeks the real causes for this epidemic. Her desire to find answers was fueled by her own struggle with autoimmune disease.
Donna lays out very clearly a radical, but unfortunately very true, picture of what’s happening. But she also provides clear solutions for changes in diet, supplements, and our environment that can help people deal with and even reverse autoimmune diseases.
Donna calls the environmental toxins that are, in part, driving the autoimmune epidemic “autogens” — foreign compounds that create an “auto” reaction, a reaction against the self. The fact is, these toxins may be the most important cause of autoimmune diseases.
In today’s blog I will review how these toxins influence your health and lead to autoimmune diseases, share some of what Donna explains in her book, and provide 9 tips to help you address autoimmune disease.
Environmental Toxins: The Leading Cause of Autoimmune Disease
We are exposed to astounding amounts of pollution. Over 80,000 chemicals have been introduced into our society since 1900, and only 550 have been tested for safety. According to the US Environmental Protection Agency (EPA), about 2.5 billion pounds of toxic chemicals are released yearly by large industrial facilities. And 6 million pounds of mercury are poured into our air every year.
In fact, a recent government survey – “The National Report on Human Exposure to Environmental Chemicals” issued in July 2005 — found an average of 148 chemicals in our bodies. And those were only the ones for which they tested. (i)
It gets worse …
The Environmental Working Group examined the umbilical cord blood of children just as they emerged from the womb. They found 287 industrial chemicals, including pesticides, phthalates, dioxins, flame-retardants, Teflon, and toxic metals like mercury. And this was before these infants even entered the world!
That’s not to mention the toxins found in our foods and other chemicals typically found in the home, like certain cleaning agents or pest control products – all of which add to the total toxic load on our bodies.
One wonders what all of this poison is doing to our children …
In his foreword to The Autoimmune Epidemic, Dr. Douglas Kerr, M.D., Ph.D. professor at Johns Hopkins School of Medicine, says that “there is no doubt that autoimmune diseases are on the rise and our increasing environmental exposure to toxins and chemicals is fueling the risk. The research is sound. The conclusions, unassailable.”
That environmental toxins are a major cause of autoimmune disease is clear. Yet conventional medicine doesn’t take that into account when treating autoimmune conditions.
Instead, it tries to shut down the immune response with powerful medications including nonsteroidal anti-inflammatory drugs like Advil and Aleve, steroids like prednisone, anti-cancer drugs like methotrexate, and new drugs like Enbrel and Remicade that block the effects of a powerful inflammatory molecule called TNF alpha.
But those new drugs shut down your immune system so powerfully that they increase your risk of cancer or life-threatening infections. And they have frequent and serious side effects and often give only partial relief. These drugs may be lifesaving for some in the short run — but in the long run they do NOTHING to deal with the causes.
There’s a better way.
I have successfully treated hundreds of patients with autoimmune diseases by addressing the underlying causes, including toxins, infections, allergens, poor diet, and stress. The roadmap of functional medicine takes us right to the root of the problem.
I have even seen the results of using functional medicine to treat autoimmune disease in myself, in my wife, and in my patients.
Using Functional Medicine to Heal from Autoimmune Disease
Years ago, I had chronic fatigue syndrome. This condition has autoimmune features and my blood tests clearly showed that my body was attacking itself. Getting rid of my mercury poisoning reversed my chronic fatigue and autoimmune problems.
Similarly, my wife developed debilitating autoimmunity with joint pain and fatigue. Getting rid of the heavy metals in her body with an intensive detoxification program cured her, too.
And this has been true of so many of my patients.
For each one, I have to find all the causes — toxins, allergens, infections, poor diet, and stress — and deal with all of them while adding back the things the body needs to function optimally, like whole, clean food, nutrients, exercise, stress management, clean water and oxygen, community, connection, and meaning. When I do this, the results are amazing.
One of my patients had crippling psoriasis and related arthritis. She was 42 and couldn’t walk up and down stairs, get into a bathtub without help, or properly care for her children. Yet just nine months after we started treatment — including eliminating gluten and other food allergens, removing her heavy metals, and balancing her immune system — she walked back in my office, not only 30 pounds lighter (remember, being inflamed makes you fat), but completely free of pain and psoriasis.
She’s not alone.
Another man suffered for years with the bloody diarrhea and pain of ulcerative colitis. Dietary changes and various kinds of digestive support helped but he never got better — until we removed the toxins and mercury from his body.
And a recent patient with debilitating fatigue and scars on her brain from multiple sclerosis got nearly complete relief of her symptoms after she had the mercury fillings removed from her teeth and went on a comprehensive detoxification program. When she repeated her MRI, all of the scars from the MS were gone!
So there are ways you can address autoimmune disease if you or someone you love is suffering. Here is what I recommend.
9 Tips for Addressing Autoimmune Disease
- Read The Autoimmune Epidemic. This book will tell you why we have this problem, and how to fix it.
- Find a functional medicine doctor who can help you address autoimmunity.
- Get tested for mercury and other heavy metals.
- Get tested for celiac disease (an autoimmune reaction to wheat and other gluten-containing grains), which causes over 60 autoimmune diseases. And consider eliminating other inflammatory foods from your diet such as dairy, eggs, corn and animal fats for a few weeks to see if it makes a different your symptoms.
- Take immune-balancing nutrients and supplements, including vitamin D, essential fats (like EPA/DHA and GLA), and pro biotics.
- Practice deep relaxation daily through yoga, meditation, biofeedback, or anything that reverses the stress response.
- Practice the precautionary principle, which says that we should avoid anything with the potential for harm. In the US, something has to be proven harmful before it is taken off the market. In Europe, something has to be proven safe before it is allowed on the market. This is also known as “better safe than sorry.”
- Learn how to boost your body’s own detoxification system.
- By addressing the root causes of autoimmune disease, you can start feeling better and getting well today.
1. Youll Strengthen Your Immune System
Daily consumption of coconut water has the ability to strengthen your immune system. It also has the ability to remove bacteria in the body that causes gum disease and urinary tract infections. Coconut water combats viruses that cause you to catch a cold, typhus or infectious diseases. Even during cold season, you find your health is exceptional.
2. Youll Start to Feel More Energetic
Coconut water enhances the thyroid gland hormones, which gives you an energy boost at a cellular level. After a week of consuming coconut water consistently, you may just see a spring in your step that wasnt there before.
3. Youll Feel Better Internally
4. Youll Notice Improvements in Your Digestive System
Coconut water is excellent for the digestive system as it gives us a lot of our daily requirements for fiber. Its not always easy to obtain the amount of fiber per day that your body requires. When you consistently drink coconut water for a week, youll find yourself becoming more, ahem regular. When gastric acid is eliminated regularly, youll have a lot more energy because the body is able to run at an optimum level.
5. Youll Lose Weight
When you consistently drink coconut water for a week, you may find yourself shedding some pounds. Its more of an indirect result, as youre able to drink coconut water in large amounts because its low in fat, which curbs your appetite. When you drink a lot of coconut water, your appetite will be reduced and youll possibly eat less. Also, the amount of energy you gain may just have you doing more exercise.
6. Youll Relieve Certain Types of Headaches For Good
If youve suffered from headaches, you know how terrible they can be. Coconut water can be used as a means of hydrating yourself properly and subsequently preventing headaches daily. Coconut water may be the answer if your headaches have something to do with hypertension or dehydration.
If youre suffering from headaches due to dehydration, its because youve lost essential fluids. This may have happened due to physical activities when you lost too much fluid or perhaps you have a hangover. Coconut water is a headache-solver, in most cases, due to it being a natural elixir packed with electrolyte-balancing nutrients. Through drinking coconut water youll regainthe fluids that youve lost, putting you back on the mend quickly.
7. Youll Notice More Radiant Skin
One cup of coconut water will ensure that your skin is radiant thanks to the incredible effects of hydration. Skin, of course, is thelargest organ in the body and if youre not hydrated, your skin suffers greatly. If you consistently drink coconut water daily, your skin will see noticeable improvements. By adding coconut water to mineral water, youll find yourself drinking more fluids and getting maximum hydration. Positive effects are seen throughout the body but the skin may take some time to shine.
8. Youll Feel Younger
If youre tired of eating carrots in the hopes of saving your eyesight, coconut water may just be your answer. Coconut water has the ability to reverse visions problems such as glaucoma and cataracts. Through drinking coconut water, youll have boosts of energy, your risk of heart attacks and strokes will bereduced, and the aging process will be slowed down at a cellular level.
Neurodegenerative disorders like Parkinson’s and Alzheimer’s are extremely widespread, affecting millions of people across the planet, but treatments are limited, and there’s currently no cure available. New work is showing promise in the development of a new treatment, with scientists identifying a compound that can reverse symptoms of the diseases. The method hasn’t been tested on human patients just yet, but it’s been found to be effective in genetically modified fruit flies.
Combating neurodegenerative disorders represents one of the biggest challenges in modern medicine. Our understanding of conditions like Alzheimer’s is improving rapidly, but actually finding effective treatments, and even cures, is proving extremely difficult.
The new study is a collaborative effort between the University of Maryland and the University of Leicester in the United Kingdom. It focuses on metabolites related to an amino acid called tryptophan, which breaks down into numerous compounds when it degrades in the body, which in turn have effects on the nervous system.
Two of these compounds are polar opposites, with 3-hydroxykynurenine (3-HK) having toxic properties and kynurenic acid (KYNA) helping to prevent nerve cell degeneration. The team believes that the amount of the two compounds present in the brain could play a big role in Alzheimer’s, Parkinson’s and Huntington’s disease.
To test that theory, they worked with fruits flies genetically altered to model Alzheimer’s and Parkinson’s diseases, giving them a chemical that inhibits an enzyme known as trytophan-2,3-dioxygenase (TDO). The enzyme controls the relationship between 3-HK and KYNA, with its inhibition shifting metabolism towards the latter. The effect on the flies was significant, improving their movement and lengthening their lifespans.
“A key finding of our study is that we can improve ‘symptoms’ in fruit fly models of Alzheimer’s and Parkinson’s disease by feeding them a drug-like chemical,” said study co-author Carlo Breda of the University of Leicester. “Our experiments have identified TDO as a very promising new drug target.”
Looking forward, the researchers hope to test the treatment on human patients to see if it does indeed represent a new means of combating neurodegenerative disorders.
The findings of the study are published online in the Proceedings of the National Academy of Sciences.
Source: University of Maryland
Traditional approaches to tackling prostate cancer are generally quite effective, with a 80 to 90 percent cure rate, but a new method, known as Stereotactic Body Radiation Therapy (SBRT) could revolutionize the practice. The results of an extensive five-year study have now been published, showing that the method, which requires far fewer hospital visits than conventional radiation therapy, has a cure rate of 98.6 percent.
Currently, if you’re diagnosed with the early stages of prostate cancer, there are three treatment paths available. Doctors can either decide to surgically remove the gland, implant tiny radioactive seeds into the prostate using needles in the operating room, or use external beam radiation, which involves between 42 and 45 treatments, taking place five days a week and spaced out over a period of two months or more.
Those methods are pretty effective, curing the patient 80-90 percent of the time. However, the SBRT treatment has the potential to make the therapy process far less disruptive, while also significantly increasing the patient’s odds of beating the disease.
The lead site for the trial was the University of Texas Southwestern (UT Southwestern) medical center, with 91 patients diagnosed with stage one (low risk) and stage two (intermediate risk) prostate cancer taking part.
The biggest benefit of the treatment is the reduction in the number of hospital visits that the patient has to make, lowering the 44-treatment average of conventional radiation therapy to just five visits. It works by delivering multiple beams at various angles, which converge on the prostate and deliver a high dose of radiation.
The method allows for large amount of radiation to be delivered to the tumor while limiting effects on the surrounding tissue. It certainly seems to be effective, with only one patient experienced a recurrence of the cancer in the five years following treatment.
While the treatment was found to be more effective than other courses of action, the side effects appeared to be the same. Patients reported urinary issues (such as increased urgency and frequency), rectal irritation, and in around 25 percent of cases, a decrease in erectile function. Looking forward, the researchers plan to investigate means of reducing these side effects, while also looking into using the technique to tackle stage three prostate cancer.
Perhaps the most compelling aspects of the treatment option, should it become widely available, is the lessened impact that the therapy would have on patients’ lives.
“I live 45 minutes away from UT Southwestern,” said trial patient Terry Martin. “The difference between being treated five times versus 44 times is enormous. I felt that I was back to normal just 10 days after finishing treatment.”
Full details of the extensive study are published online in the European Journal of Cancer.
Source: UT Southwestern
Do not be a couch potato & get into positive things you can do regularly
to extend your life & be happier & healthier as a result
These are some of the main things you can apply to your daily routine.
1…Maintain a Sense of Purpose
Hobbies and activities that have meaning for you may lengthen your life. Japanese researchers found men with a strong sense of purpose were less likely to die from stroke, heart disease, or other causes over a 13-year period compared to those who were less sure of themselves. Being clear about what you’re doing and why can also lower your changes of getting Alzheimer’s disease.
You’ll never completely avoid stress, but you can learn good ways to control it. Try yoga, meditation, or deep breathing. Even a few minutes a day can make a difference.
3…Make Sleep a Priority
Getting enough good quality sleep can lower your risk of obesity, diabetes, heart disease, and mood disorders. It’ll also help you recover from illness faster. Burning the midnight oil, on the other hand, is bad for you. Snooze for less than 5 hours a night and you might boost your chances of dying early, so make sleep a priority.
4…Use Safety Gear
Accidents are the fifth most common cause of death in the U.S., and the top cause of death for people ages 1 to 24. Wearing safety gear is a simple way to boost your odds of a long life. For example, seatbelts reduce the chances of death or serious injury in a car wreck by 50%. Most deaths from bike accidents are caused by head injuries, so always wear a helmet.
Letting go of grudges has surprising physical health benefits. Chronic anger is linked to decreased lung function, heart disease, stroke, and other ailments. Forgiveness will reduce anxiety, lower blood pressure, and help you breathe more easily. These benefits tend to increase as you get older.
People who attend religious services tend to live longer than those who don’t. In a 12-year study of people over age 65, those who went more than once a week had higher levels of a key immune system protein than their peers who didn’t. The strong social network that develops among people who worship together may contribute to your overall health.
7…Drink in Moderation
Heart disease is less common in moderate drinkers than in people who don’t drink at all. On the other hand, too much alcohol pads the belly, boosts blood pressure, and can cause a host of other health problems. If you drink alcohol, the limit should be one drink a day for women and one or two for men. But if you don’t drink, don’t start. There are better ways to protect your heart!
The evidence is clear — people who exercise live longer on average than those who don’t. Dozens of studies show that regular physical activity lowers your risk of heart disease, stroke, diabetes, some forms of cancer, and depression. It may even help you stay mentally sharp in into old age. Ten-minute spurts are fine, as long as they add up to about 2.5 hours of moderate exercise
If you’re overweight, slimming down can protect against diabetes, heart disease, and other conditions that take years off your life. Belly fat is bad for you, so focus on deflating that spare tire. A 5-year study of Hispanics and African-Americans suggests eating more fiber and exercising regularly are great ways to whittle your middle.
Married people tend to outlive their single friends. Researchers say it’s due to the social and economic support that wedded bliss provides. While a current union offers the greatest benefit, people who are divorced or widowed have lower death rates than those who’ve never tied the knot.
11.Eat Like in Okinawa Japan
The people of Okinawa, Japan, once lived longer than any other group on Earth. The region’s traditional diet, which is high in green and yellow vegetables, and low in calories gets the credit. Plus, some Okinawans made a habit of eating only 80% of the food on their plate. Younger generations have dropped the old ways and aren’t living as long as their ancestors.
12…Adopt a Mediterranean Diet
The Mediterranean diet is rich in fruits, vegetables, whole grains, olive oil, and fish. An analysis of 50 studies involving more than half a million people confirms the benefits. It can put a serious dent in your risk of metabolic syndrome — a mix of obesity, high blood sugar, increased blood pressure, and other factors that make you more likely to get heart disease and diabetes.
13…Embrace the Siesta
A siesta is standard in many parts of the world, and now there’s scientific evidence that napping may help you live longer. A study that involved 24,000 people suggests those who have a regular snooze are 37% less likely to die from heart disease than those who rarely steal a few winks. Researchers think naps might help your heart by keeping stress hormones down.
It’s no secret that giving up cigarettes can lengthen your days, but the amount of extra time may surprise you. A 50-year British study shows that quitting at age 30 could increase your lifespan by an entire decade. Kicking the habit at age 40, 50, or 60 can add 9, 6, or 3 years to your life, respectively.
15…Choose Friends Wisely
Your friends’ habits rub off on you, so look for buddies with healthy lifestyles. Your chances of becoming obese go up if you have a friend who adds extra pounds. Smoking also spreads through social ties, but the good news is that quitting is also contagious.
Here’s one more reason to be grateful for your friends — they might help you live longer. Australian researchers found elderly social butterflies were less likely to die over a 10-year period compared to people with the fewest friends. A look at results from 148 more studies shows a clear link between social ties and a long life.
17…Play to Win
An 80-year study found that people who are conscientious — meaning they pay attention to detail, think things through, and try to do what’s right — live longer. They do more things to protect their health and make choices that lead to stronger relationships and better careers.
18…Protect Your DNA
As you age, the ends of your chromosomes — called telomeres — become shorter. This makes you more likely to get sick. But lifestyle changes can boost an enzyme that increases their length. Plus, studies show diet and exercise can protect them. The bottom line: Healthy habits may slow aging at the cellular level.
19…Be the best person you can be
Doing the right thing to & by your fellow humans will make you more gratified & happy about yourself. This in itself will empower you to do positive things for yourself & others.
20…Compliment your food intake with healthy natural foods
Where you can compliment your food intake with a healthy range of fruits & vegetables from the tropics & elsewhere such as products from the mountain country of the Himalayas & the jungles of the Andes. Eat as organic as possible. Avoid processed foods wherever & whenever possible.
Alzheimer’s disease is caused by a buildup of amyloid beta in the brain, which causes plaques that disrupt nerve cells. Now, research conducted by scientists at the University of Bergen is improving our understanding of exactly why this happens, identifying both a section of a cell and a protein that are central to the process.
Our understanding of Alzheimer’s disease is always evolving, with new discoveries being made every month. Just recently we’ve learned that mimicking movements could help patients relearn lost abilities, and we’ve even gained insights into how the disease impairs perception.
For the new research, the team studied patients with major physical and psychological problems, all of whom had a particular gene defect that causes a reduction in the amount of a particular protein in their systems, known as PITRM1.
Scanning the subjects’ brains revealed the telltale amyloid beta buildup in their brains. Further testing with laboratory mice exhibiting the same loss of PITRM1 backed up the finding, revealing a similar protein deposition in the brain.
Not only is the knowledge that the protein plays a central role in such neurological diseases likely to prove useful in developing new treatments, but the location of PITRM1 – found in mitochondria – confirms that these cell powerhouses play an important part as well.
“The results conclude a long discussion about the relationship between mitochondria and accumulation of amyloid in the brain” said research Janniche Torsvik. “We have found that mitochondria play a crucial role in the process of protein deposition.”
Full details of the research are published online in the journal EMBO Molecular Medicine.
Source: University of Bergen
People with a family history of blood cancers like leukaemia and lymphoma can now be tested for genetic mutations that put them at risk of developing the disease in the future.
Scientists have discovered a number of genetic mutations that can identify whether someone with a family history of blood cancers like leukaemia and lymphoma is at risk of developing the disease later in life.
International researchers have identified that a series of mutations in the gene, DDX41, are common in families with a history of myelodysplastic syndrome, acute myeloid leukaemia and lymphoma.
As genetic testing is currently available for mutations in DDX41, people with a familial history of blood cancer can now find out the whether they’re at risk of developing the hereditary disease.
The discovery, published in the haematology journal Blood this week, will enable thousands of people to either diagnosis the disease early and prevent it from spreading, or stop it from developing at all.
“This is the first gene identified in families with lymphoma and represents a major breakthrough for the field,” says the paper’s author, Professor Hamish S. Scott from the Centre for Cancer Biology, South Australia, which was involved in the international collaboration behind the study.
“Researchers are recognising now that genetic predisposition to blood cancer is more common than previously thought, and our study shows the importance of taking a thorough family history at diagnosis.
“Often the first symptoms of blood cancer don’t occur until the disease is advanced, so the opportunity to diagnose people at high risk will save lives.”
Every day, 34 people in Australia are diagnosed with leukaemia, lymphoma, myeloma or a related blood disorder, according to the Leukaemia Foundation.
Genetic testing is already available at SA Pathology for persons with a family history of blood cancer to establish if they have mutations in DDX41.
“If you have seven siblings and four of them have been affected by blood cancer, then you are know you have a problem [with the disease] or you know you could have a chance of having a problem,” says Prof Scott.
“Obviously if these people came forward for a clinical test and the result was negative, it would be a huge relief to them. It’s a massive psychological burden to know you are at risk of these diseases and at risk of passing them onto your children.
“If it turns out that they were positive, it might be a relief to be able to say ‘this is what the problem is’ and then just get on with it, working with their clinician to [monitor their health] and determine what they are going to do if they develop the disease.”
Prof Scott says people aged 60 and over with a family history of blood cancer have a 70 per cent chance of carrying the genetic mutation. While individuals of any age can still develop blood cancer, the chances are a lot lower for people aged under-60.
“So a person’s chances of getting blood cancers are high if they have a familial history but they are also associated with your age.”
Knowing whether or not you carry the identified genetic mutations and are at risk of developing blood cancer could reap benefits for the individual but also for relatives.
“One of the most common treatments for blood cancer is a bone marrow transplant, where bone marrow is usually donated from a family member.
“You don’t want to be transplanted with someone who has the same problem as you: and that does happen.”
Anyone interested in getting a test should contact the cancer service in their relevant state to discuss which Australian laboratories offer genetic testing and whether or not they are at risk.
While some people prefer to live a life free of all regrets, others embrace mistakes as the opportunities needed to change the course of their life.
Chinese-born Lin* is one of these people. The 53-year-old has lived a life full of meaning and memories but she has two major health regrets.
One decade ago, a 40-something-year-old Lin ignored medical advice to undergo an endoscopy procedure after she experienced severe gastro pain.
“I remember thinking ‘yuck: an endoscopy’,” she explains. “So I didn’t take the test.
“But If I could go back 10 years and remake my decision about that endoscopy again, I would. If I had taken the test, they probably would have found and removed the polyp that later grew into bowel cancer.”
Life moved on and Lin continued along for the next seven years as usual, before a second opportunity to save her health arrived in her mailbox.
At age 50, she received a free bowel cancer screening kit – the faecal immunochemical test – courtesy of the federal government. “I ignored it and didn’t do the test. I was so physically well! I went jogging three times a week. I slept okay. I never smoked or drank. So I thought that I was at the top of my health.
I ignored it and didn’t do the test. I was so physically well! I went jogging three times a week. I slept okay. I never smoked or drank. So I thought that I was at the top of my health.
“But a few months later, I found out that one of my friends, who was only 30-something, was diagnosed with stage three bowel cancer. I was very shocked as she was healthy. That made me more conscious about screening.”
Finally, at age 51, Lin did the test. It came back positive, confirming that traces of blood had been found in her stool sample. She was advised to have a colonoscopy and this time, she followed through.
“The results that came back said I had bowel cancer. It wasn’t spreading and it was still localised, so I was lucky in that sense. But the polyp they found was still quite big so they classified my cancer as stage 2B.”
Lin underwent surgery the next week and the poly was removed.
Two years have passed since her operation and Lin is currently cancer-free. But, upon reflection, so much has changed. “I used to think I was so healthy yet I still got cancer. So the diagnosis has put a lot of fear in my mind. I don’t know when the cancer will come back or if it will come back.”
Her belief that bowel cancer is an older man’s disease has also been reinformed.
“At that time, I was very ignorant about bowel cancer. Before I had it, I thought men always had more bowel cancer than women do. I thought it was something to worry about after I reached 55. But after I did a lot of research, I realised the percentage of bowel cancer in men and women were almost the equal
Bowel Cancer Australia’s national community engagement manager, Claire Annear explains that bowel cancer can hit anyone at any age of any gender.
“It’s definitely a commonly held misconception that bowel cancer is an old man’s disease. It’s definitely not.”
Each year, 6,800 Aussie women are diagnosed with bowel cancer. Bowel Cancer Australia predicts that more than 20,000 women will die from the disease in the next decade, making it the third leading cause of female cancer deaths nationwide.
“For some reason, women don’t prioritise screening for bowel cancer like they do for some of the other cancers like breast and cervical. There is also a common female perception is faecal testing is embarrassing and ‘yucky’, and screening for the disease is messy.”
While it is true that disease prevalence rates are concentrated in the older populations, around eight per cent of all the women diagnosed with bowel cancer are under the age of 50.
“Bowel cancer affects both men and women of all ages and it’s something that everyone should have on their radar.”
Sydney-based colorectal surgeon, Dr Margaret Schnitzler, adds that awareness and early screening are key to survival.
Bowel Cancer Australia predicts that more than 20,000 women will die from the disease in the next decade.
“Around 90 per cent of bowel cancer cases can be successfully treated, if detected early,” says Dr Schnitzler.
Today, surgery success rates are high and bowel cancer screening can also detect pre-cancerous polyps. “So you can eliminate bowel cancer and remove polyps before they actually become cancerous…It just seems logical to do the test because it saves lives.
“If you have a family history of bowel cancer, it’s recommended you start screening at an earlier age, before 50.
“The rule of thumb is to get tested [when you’re] 10 years younger than the age your first affected close relative (parent or sibling) got bowel cancer, if they were diagnosed under age 55. If they were diagnosed over age 55 then they are considered an average risk.”
Looking back, Lin is grateful that she got a second chance at life. “I was lucky I was sent the bowel screening package otherwise I would never have known I had cancer,” Lin explains.
“Even if there is nothing wrong, everyone should go for the test as it provides peace of mind. If something is wrong, the test can tell you about it early. I got in early and found out. I was lucky.”
“The test is a one-off that you do once every few years so why not? It’s not ‘yucky’. It could save your life.”
Another bowel cancer survivor video story below