Category Archives: Genetics

Cancers in women 1

Bringing Awareness To Cancers In Women

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Over the next week I am going to focus on a very serious subject – Cancers in women.

Having recently focusses on the awareness of endometriosis and adenemyosis, I thought I should bring some awareness to the topic of cancers in women as a whole. This isn’t to scare people either. It is to bring awareness to a very serious topic and to help people understand the importance of early intervention and changes to diet and lifestyle can greatly reduce the risks of this horrible disease.

With cancer rates increasing I am going to focus on the cancers that affect the female reproductive system and impact of reproductive health. This will also include those cancers that increase after menopause too. Whenever I talk about fertility and reproduction, it is referring to the stage in life when women are fertile and are of reproductive age. Menopause is also including because that still comes under the reproductive system.

Cancer has been around a long time

Humankind has been dealing with the impact of cancer and malignancy for its entire history and the first clear description of any cancer is found in the Ebers Papyrus, dating from nearly 3500 years ago. The cancer was very accurate described by the Egyptian writer and what was described was in fact breast cancer. Chinese Medicine has texts dating back for further than that, describing the different forms of cancers and their treatments. Modern medicine does tend to only reference Greek, Egyptian and Roman text.

When these Greek physicians first cut the surface of a breast cancer, it did in fact resemble a crab, because of it solid central body, with extensions into the surrounding tissue resembling legs.

The ancient Greek word for crab is “Karkinos” which in Latin is translated into ‘cancer’- as in the astrological sign. This term was then extended into all cancers and malignancies, not just breast cancer.

Genetic, hereditary and hormonal links to cancer

It is believed that cancer is predominantly caused by a failure in the regulation of genes which govern cell growth and differentiation. Malignant change is most typically the result of a cascade of changes in a number of genes.

These changes in genes can be bought on by hereditary genetic genetic changes, while others may be the incorporation of foreign viral DNA, or a compound that may act as the primary trigger for malignant change. Some cancers and malignancies are also caused by hormonal stimulation both internally and by injection, or ingestion of hormones from an outside source (Drugs, Hormone Replacement etc).

Diet and lifestyle links to cancer

Other cancers are plain and simply caused by the highly inflammatory foods we eat and the lifestyle we live. Obesity and being overweight increases our cancer risks and there are no many studies proving these links. Having excess fat stores, eating highly processed foods, high GI foods and over 3-4 glasses of alcohol per week can increase your cancer risks exponentially. This why we all need to adopt a clean eating approach to foods and look at eating less refined foods and more whole foods.

The incidence of cancers in women is highest in developing western countries and lowest in countries such as Africa and Asia. The difference has more to do with diet than it does genetics. Since there is compelling evidence that alcohol, highly refined foods and obesity increase the risk of cancers in women (and men) I will be focusing greatly on the need for us all to look at changing our diets to not only help in the prevention of certain cancers, but to also help prevention of other disease states that are leading causes of our lives being cut short.

The most common cancer in women

Since breast cancer remains the most common malignancy in women, comprising of 18% of all female cancers, most women will know someone who has had this diagnosis.

I’ll focus on breast cancer firstly and then go into the other cancers so that we can all be educated about how we can prevent these disease states from increasing. If you have any questions, or topics you want discussed around this topic, please let me know

Take care and remember prevention is better than cure. Always talk to your doctor, or healthcare practitioner about cancer risks and always seek early intervention if you find any lumps and bumps that were not there before.

Hope you the topics help you all. If I can save just one person with this information, then I am happy. Lets try and save more than one, so please like and share to spread the word.

Regards

Andrew Orr

-No Stone Left Unturned

-Master of Women’s Health Medicine

-The Women’s Health Experts

Consequences of PCOS

The Serious Health Complications Of Unmanaged PCOS

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Just like endometriosis, there is a lot of the information about PCOS, but it is more about the symptoms, time to diagnosis and future fertility outcomes.

While it is necessary to educate people about these things, nobody is really talking about the serious health complications of unmanaged PCOS.

There have been some big changes to the diagnosis of PCOS, but still it can often take up to 3 years or more to get a proper diagnosis. While it may not take as long as endometriosis to be diagnosed, it still means that many women are being missed and dismissed in those year before they are finally diagnosed.

Like Endometriosis, some women with PCOS are never diagnosed and some women do not have any symptoms and can have very regular cycles etc. Women can have PCOS and endometriosis together, alongside other issues such as adenomyosis as well.

There are serious health consequences with unmanaged PCOS

The main thing I am trying to bring to everyone’s attention is that it doesn’t matter what disease you have, if it is left unmanaged, or not managed properly, it can have some pretty serious consequences of ones fertility, and mental and physical health.

PCOS is not exception. While the symptoms of PCOS are not as bad as those suffered with endometriosis, or adenomyosis, women can still suffer in many other ways. The long-term consequences of unmanaged PCOS can be very serious and can also lead to early death (cardiovascular disease, stroke etc.) and also lead to certain cancers.

Risk factors

PCOS is thought to have a genetic component. People who have a mother or sister with PCOS are more likely to develop PCOS than someone whose relatives do not have the condition. This family link is the main risk factor.

Then there is the insulin resistance factor with PCOS as well. Insulin resistance is a primary driver of PCOS and there is now evidence to show that most, if not all, women with PCOS have insulin resistance by default. Again this appears to be through genetic or family links of someone having PCOS, or having diabetes in the family tree etc.

Excess insulin is thought to affect a woman’s ability to ovulate because of its effect on androgen production. Research has shown that women with PCOS have low-grade inflammation that stimulates polycystic ovaries to produce androgens.

This is why diet and lifestyle interventions are so important in the overall management of PCOS. It is because these changes help with the insulin resistance.

There are other risk factors such as obesity, stress, nutritional deficiencies and sedentary lifestyle. Have a look at my page about more information on PCOS and risk factors etc (Click Here)

The Common Symptoms of PCOS

It is important to know what the common symptoms of PCOS are, so that women and healthcare professionals alike know what to look for.

The common symptoms of PCOS include:

  • irregular menses
  • excess androgen levels
  • acne, oily skin, and dandruff
  • excessive facial and body hair growth, known as Hirsutism
  • female pattern balding
  • skin tags
  • acanthosis nigricans, or dark patches of skin
  • sleep apnea
  • high stress levels
  • depression and anxiety
  • high blood pressure
  • infertility
  • Increased risk of miscarriage
  • decreased libido
  • high cholesterol and triglycerides
  • fatigue
  • insulin resistance
  • type 2 diabetes
  • pelvic pain
  • weight management difficulties including weight gain or difficulty losing weight

Early Intervention and management is crucial

The causes of PCOS are unclear, but early intervention, early diagnosis and early management, can help relieve symptoms and reduce the risk of complications. Anyone who may have symptoms of PCOS should see their healthcare provider, women’s healthcare specialist, or PCOS expert.

Coping with the symptoms of PCOS and managing the treatments can be demanding ands sometimes stressful. But, to then learn there can be serious complications and added risks to your health from PCOS not being managed properly can be distressing.

Be educated and get proper help

Just like any disease state just being aware, and being educated there are added risks is an important first step. Once you have the common symptoms of PCOS under control then you can turn your mind to thinking about ways to prevent further complications.  The good news is that many of the treatments and management strategies you will use for your PCOS will also help to prevent many of the serious complications. A qualified healthcare professional, or a healthcare practitioner who is an expert in PCOS should be managing anyone with PCOS. Nobody should be trying to manage PCOS on their own without some form of professional help.

The serious complications of PCOS

Women with PCOS are thought to be at higher risk of having future heart disease or stroke. They are also at higher risk of diabetes, endometrial cancer and other cancers too.

What are the serious complications of unmanaged PCOS?

Besides the risk factors already mentioned, the serious complications of unmanaged PCOS are as follows:

  • Weight gain or obesity
  • Prediabetes
  • Type 2 diabetes
  • Cardiovascular disease
  • Metabolic syndrome (generally having at least two of high blood pressure, high cholesterol, obesity, high fasting blood glucose)
  • Endometrial cancer
  • Other cancers (breast, ovarian)
  • Sleep apnoea
  • Inflammation of the liver
  • Infertility
  • Increased Pregnancy induced hypertension and pre-eclampsia
  • Increased gestational diabetes
  • Increased risk of stroke
  • Increased risk of sudden death
  • Atherosclerosis
  • Psychological disorders
  • Mood disorders (anxiety, depression)

What you can do

If you are worried about the serious complications of unmanaged PCOS it is helpful to:

  • Get your symptoms of PCOS under control as a first step
  • Discuss any concerns with your healthcare practitioner, or women’s health/PCOS expert.
  • Learn about and understand your risks
  • Learn that early intervention and early healthcare management is the key to assisting any disease state.
  • Have your blood pressure, blood glucose and cholesterol checked regularly
  • Seek guidance and support to help with weight management and dietary and lifestyle management.
  • Remember that all body types can have PCOS, not just those who are overweight.
  • Do not try to manage the symptoms of PCOS on your own.

Final word

If you do need assistance with PCOS and would like my help, please call my friendly staff and found out how I may be able to assist you. There are options for online consultations and consultations in person.

As mentioned before the key to any disease is early intervention and early healthcare management and you taking the first steps to get the help you need. PCOS also needs a multimodality approach. There are many facets to it. Don’t put off your health. Just pick up the phone and make that appointment today. There can be some very serious consequences if you do, especially for some conditions such and PCOS.

Regards

Andrew Orr

-No Stone Left Unturned

-Master of Women’s Health Medicines

-The PCOS Experts

References
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  2. Meyer C et al. Overweight women with polycystic ovary syndrome have evidence of subclinical cardiovascular disease. J Clin Endocrinol Metab. 2005 Oct;90(10):5711-6
  3. McCartney CR, Marshall JC. Polycystic Ovary Syndrome. N Engl J Med 2016;375:54-64
  4. Hull MG. Epidemiology of infertility and polycystic ovarian disease: endocrinological and demographic studies. Gynecol Endocrinol. 1987;1:235–245. [PubMed] [Google Scholar]
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  14. Broekmans FJ, Knauff EAH, Valkenburg O, Laven JS, Eijkemans MJ, Fauser BCJM. PCOS according to the Rotterdam consensus criteria: change in prevalence among WHO-II anovulation and association with metabolic factors. BJOG. 2006;113(10):1210–1217. [PubMed] [Google Scholar]
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Fertility and a piece of string

Explaining The Facts of Fertility- “How long is a piece of string?”

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When people ask me about what is the cause of most couples issues trying to conceive, I always say ” How long is a piece of string?”

There can be so many factors involved and there is never just one clear answer. Many times people are focussing completely on the wrong thing too.

In this video blog below,  I have an honest discussion about fertility on every level. I discuss diet, lifestyle, preconception care, supplements, natural medicines, western medicines, investigations, genetic issues, stress, IVF procedures, Natural killer cells, unrealistic expectations, self sabotage, weight issues and much much more.

So again, when anyone asks what the cause of fertility issues are, I will always answer “How long is piece of string?”

Because in reality, there are so many factors that couple are unaware of, and need to be aware of too.

Regards

Andrew Orr

-Master of Reproductive Medicine

-No Stone Left Unturned

-The International Fertility Experts

Fertility

Let’s Talk About The Facts Of Fertility & The Fertility Profession

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Wouldn’t you love to sit down for 2-3 hours with a fertility expert and cover everything you need to know for your fertility and journey to become a parent?

Wouldn’t you love to have a fertility expert that can not only talk to you about all the medical investigations, medical protocols, genetics and genetic testing, hormones and medications etc, but can also talk you about preconception care, nutrition, diet, lifestyle changes, nutritional supplements, complementary medicines, acupuncture, counselling and other modalities?

Wouldn’t you just love it if someone could listen to your individual needs, listen to your full history, be empathetic to your journey so far, be there to guide you every step of way, and then make sure you are looked after on every level possible?

Well, you can have this, but before I talk about how, let’s talk about the facts about fertility and the fertility profession first.

Let’s talk about the facts

I never hold back from telling people the cold hard facts on any health topic I talk about. It may, or may not upset some people, but the truth is that it needs to be said all the same. People deserve to know the reality about every health condition and their reproductive system. For this post I am going to talk about the cold hard facts of the fertility profession and facts around fertility.

The fact is that many people are lucky to get half hour with a fertility specialist/expert when they decide that need help in having a baby. Some may only get a 15-minute appointment with a fertility specialist/expert and are lucky to get a few questions answered. Then at each of your next 15 minutes appointments, people are trying to cram in as many questions as they can before they are escorted to the door, because the next patient has arrived.

Many medical fertility specialists/experts have no idea about diet, lifestyle advice, preconception care etc, and the one subject that they did learn years ago at college is now a lost and distant memory. Basically it becomes a case of not my area, not my concern.

People then go home and arm themselves with a degree in ‘doctor google’ and then desperately search for answers themselves. They then end up on all manner of sites and support groups with a plethora of misinformation and angst. Have read of my post about Fertility and Dr Google 

This then leads to people searching for a local naturopath, nutritionist, Chinese medicine practitioner etc, trying to cover off on all the complementary medicines, nutrition, dietary advice and nutritional and herbal supplements.

Then this can lead to the case of too many cooks spoiling the broth, too many with differing ideas, or no idea at all, and the turf war on fertility begins.

The medical specialist damns the complementary medicines. The complementary medicine practitioner damns the medical specialist and the couple, or individual, is then caught in the middle. Dazed and confused, the couple/individual has to make a choice of whom they are going to believe and whom they are going to continue to see. But does it have to be this way?

Health professionals should be working together, for the greater good of the patient, not working against each other. Nobody has all the answer and a symbiotic relationship can greatly increase a couples success of having a child.

No wonder many couples/individuals don’t know where to turn to, who to believe and then end up searching for answers themselves. Worst still, while all this confusion and mud slinging continues, the couple/individual still have not get the answers they need, let alone the baby they are desperately wanting.

The fertility profession is largely unregulated

1.The medical side of things

What many are unaware of, especially here in Australia, is that the fertility profession is largely unregulated. Anyone can say they do fertility work and yet not have the qualifications to back it up. Only one state here is regulated, where you have to have what we call a CREI (Certificate of Reproductive Endocrinology and Infertility).

But let’s face it, it is a certificate, not a postgraduate degree and they are very easy to get. But now, many have to have a Masters in Reproductive Medicine as well. But this is only in one state mind you. In all other states, there is nothing stopping anyone doing fertility.

So what this means is that anyone can go and work in a fertility clinic, without the proper extra training to do so. We see obstetricians often do the change to fertility, without having to do extra training, and are basically learning on the job as they go along. The patients then become the guinea pigs and test cases while they are learning on the job. It really should not happen. Sure, they have some reproductive training, back when they studied, but fertility is a very different area to obstetrics and pregnant women.

We also are now even see some GP’s do the sea change to some of these bulk bill IVF clinics and then are consulting with people are their fertility. Many of these couples are then led to believe they are seeing a fertility specialist, when in fact they are just seeing a GP, without any formal training in fertility and reproductive. For many of these, the last time they did any study on fertility, was back in university, and it was probably one subject, if that.

2. The complementary medicine side

But, at the same time, this is not just an issue that is related to the medical side of things. There is just as many complementary medicine practitioners saying that they do fertility, when in fact they have had no formal training, and many often have no idea. They are doing the same thing of learning at they go along, and the patients are the guinea pigs.

Many of these complementary medicine practitioners are lucky to have studied one subject in fertility and reproduction. Many of their lecturers have no formal qualification in fertility and reproduction either. They are then leaving college, or university, and then setting themselves up as experts in fertility.

Many are literally setting up overnight, with no clinical experience, or post graduate certification in fertility, and then trying to say that they do fertility. Daily, I see some of these practitioners not even knowing the basics, yet are out there trying to treat people for fertility issues. I often comment on how some of these practitioners are out there trying to have a crack at it with no idea what so ever. This should not be happening.

There needs to be better regulation

It is a big issue for couples trying to wade their way through the murky waters of the fertility profession. It really should not be allowed to happen. But again, it is all due to lack of regulation and laws preventing it from happening.

As I said, it is on both sides and not just related to one profession. There desperately needs to be more tougher and tighter regulation with the fertility profession, so that couple know that when they are seeing a fertility expert, they actually do have the post graduation training and degree, as well as the clinical experience too. The only good thing here in Australia, is that nobody can advertise that they are a specialist, unless they have a specialisation. If they are caught advertising they are something that they are not, there are harsh penalties around this.

But seriously, this would not happen in any other profession. You would not see a backyard mechanic, or a backyard hairdresser, or someone without the appropriate levels of training?
Yet, why are people not checking who they are seeing for fertility, and just presuming on face value. Your fertility and reproduction is far more important than your car, or your hair. I hope people get what I am trying to say here.

So how do you know whom to see?

This is the million-dollar question and why I always say to patients to be careful. It really is a case of buyer beware.

What you need to do is ask the big questions and do not see someone unless they can answer all the questions and tick all the boxes.

  • Here are some of the things you need to ask:
  • Does you fertility practitioner have a post graduate degree in Reproductive Medicine?
  • Can you please see a copy of their degree?
  • What is their official academic title?
  • What extra study have they done in fertility and reproductive medicine?
  • How long have they been practicing for?
  • Is the practitioner a recent graduate (medical, or complementary medicine)
  • How many fertility patients have they helped?
  • What experience has the practitioner had, and who has mentored them, or trained them?
  • What was their motivation for getting in this area of healthcare?
  • Do they work in with a fertility/IVF clinic?
  • Do they have a symbiotic relationship with a fertility/IVF clinic?
  • Does the practitioner know all the fertility investigations, fertility terms, drugs, hormones, procedures, and all things related to fertility?

These questions are just some of the important questions someone should be asking any practitioner, medical or complementary medicine, before they decide to seek their help to assist them having a baby.

See someone who specialises in fertility and reproductive medicine

I also generally tell people that when seeing someone for fertility, the practitioner should specialise in that area and not have their hands in too many pies so to speak. If seeing a medical specialist, you should try and see someone who just does fertility work on, and who isn’t trying to juggle a busy obstetrics practice at the same time. I see this happen often, where patients are left waiting while a specialist is off delivering babies and the couples are left waiting for hours. Someone like this cannot give you his or her full attention and why I believe you need to see someone whom just does fertility work only.

But again, you just need to do your homework with whomever you see. This goes for complementary medicine practitioners as well. Find out if their primary focus is fertility and not trying to be someone who does a bit of everything. Remember, don’t forget to check that they have post graduate training and experience in reproductive medicine and fertility.

Many couples are having the basics missed

Many couples I see, are often at the point of desperation, and some are also at the point of giving up. I feel sorry for those who get to this point, when in fact it is because some of the basics just have not been investigated.

Being desperate can also lead to bad decisions and also for couples to be exploited by big fertility clinics and the hard sell on offering a solution to their fertility. The fact is that nobody has all the answers, there is no magic pill, and IVF is not a cure for infertility, and we need to start being real about this.

There is often the case of expectation versus reality and many are exploited because they are desperate. We need to be very real that while IVF etc, can help couples have a baby, it really is not a cure for infertility, and it cannot help everyone.

But at the same time many couples issue really are that they have not have the basics done, or proper evaluations done, purely because the person they are seeing is a properly trained in fertility and reproductive medicine. That is a fact.

Males are not exempt from fertility issues

I’ve talked about this often and it is one of my biggest annoyances with the whole fertility profession and men who do not need to be part of the fertility journey. Have a look at my previous posts on this (click here) 

The fact is that many men are not evaluated properly and are not having the basics done with regards to fertility testing. Women are being focussed on and the male is often almost excluded from the process. Let’s face it, some men are literally in denial and excluding themselves as well. I honestly do not know why some women chose to be with men who refuse to be part of the process. Their actions speak volumes.

The long and short of it is that men are often the biggest part of the reason why a couple is not conceiving. Up to 50% -60% of fertility issues are related to men and up to 85% of miscarriage and fertilisation issues are related to chromosomal and DNA factors related to men. Yet many men are under-investigated, or not investigated at all. I see it so often where couples have literally been trying for years and years, and then we find out it is the man who is the issue. Yet all along both the fertility practitioner, and the woman’s partner alike have blamed the woman as being the primary issue. I see this so often and it actual disgusts me. Why should women be blamed for all fertility issues, when men are an equal, and often greater part?

Proper fertility evaluation and testing

I’ve spoken about this in previous posts and it is so important that couples are evaluated properly. Personally I believe that everything that should be done is done up front and at the beginning. So many couples end up finding issues years later, which should have been found in the beginning.

Proper testing should involve at least the following:

  • Full blood testing and screening
  • Hormone assay
  • Scans and imaging
  • Surgical intervention (Laparoscopy, hysteroscopy and dye studies)
  • STI screening
  • Semen analysis
  • Sperm chromatin Assay (SCAT)
  • Full genetic screening
  • Advanced genetic carrier screening
  • Others

I make sure that all my patients have been screened and investigated properly on all levels, for both the man and the woman, not just the man.

You can also see my previous post about the importance of proper genetic screening as well (click here) 

We do have same sex couples and single women seeking help now, and it is still equally important that all concerned are screened properly. Sometimes one of the partners in a same sex relationship may have an issue which prevents them from conceiving, so you have to screen the other partner just in case. It is all about screening and proper evaluations and investigations.

Expectation versus reality

While we have talked about the fertility profession, we also need couples to be real about their chances too. As mentioned before, couples do need to be aware that IVF is not a cure for infertility and that is cannot help everyone. It can help many couples that would never have been able to conceive naturally too.

Age 

We also need for couples to be real about age related fertility, as that is the biggest issue as far as fertility and conception is concerned. The older you are, the harder it is going to be to fall pregnant. No matter is you are doing IVF, or not, age is a big factor in couples being unsuccessful. The older you are, the poorer quality your eggs and sperm are, and the more random chromosomal/DNA errors you get in embryos.

Preconception care

There are other issues with diet and lifestyle that need to be addressed too. Couples that are overweight are going to struggle more with being able to conceive. This is why proper pre-conception care is so important and why I have talked about it often before. We need for couples to look at their diet, their lifestyle, their alcohol intake, their stress levels etc. All these things in combination can affect ones fertility and chances of having a baby. Have a look at my post about the importance of preconception care 

Not everyone will be able to have a baby

There are also those couples, that despite the best medical interventions and help, that they may not be able to fall pregnant. This is really sad, but it is a harsh reality that some will have to face. You can read my post about why IVF cycles fail

But now they are more ways to have a baby then ever, with donor eggs, donor sperm, donor embryos and even surrogates.

Final word

There is a lot to know about fertility and many couples are unaware of the lack of regulation around the fertility profession. Many are literally at breaking point and for many of these it is really through lack of proper investigations, or seeing someone who is not properly qualified to be doing fertility work.

We also need couples to take responsibility for their own health and lifestyle and also be real about age related infertility too. It is all really overwhelming for couples, but the fact is that we still need to talk about it.

Lastly, you need to do your homework, when going to see someone for help with fertility. As mentioned previously the fertility profession is largely unregulated and there are a lot of practitioners out there, medical and complementary medicine, who really are dabbling, or who are not adequately qualified to be assisting you.

How I can help?

If you do need assistance with fertility issues, and do want to see someone with a masters of reproductive medicine and years of clinical experience, please give my staff a call and find out how my fertility program may be able to assist you. You can also look at some of my posts about my fertility program on my website too.  You can do our full fertility program or you can now do our new 3 phase fertility program too. There are also meet and greet appointments before joining the fertility program. Again for more information, speak to my friendly staff, or drop us an email.

I hope this helps those trying to have a baby better understand the fertility profession on all levels and seek the best help possible.

Regards

Andrew Orr

-Master of Reproductive Medicine

-Fertility Expert

-The International Fertility Experts

-No Stone Left Unturned

 

 

 

 

 

genetics and fertility

Understanding How Genetics Play a Major Part in Fertility & Reproduction

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Understanding how genetics plays a major part in fertility and reproduction is very important. Many couples are completely unaware that their fertility issues and inability to conceive may in fact be from genetic, or hereditary issues that have not been screened for.

When it comes to fertility and being able to conceive more and more couples are now struggling. Some of this is due to increased stress levels, poor diet and lifestyle, increase alcohol consumption, lack of preconception care and many other factors. However, one key area that is not often talked about, or even known to many is genetic factors, chromosomal factors and DNA issues passed on through our sperm and eggs.

Fertility and reproduction is one of the hardest areas of medicine to understand. I am sure many people think that they understand it, but even with years of study and clinical experience, some questions just cannot be answered at this present time. No amount of “Dr Google” searching is going to bring answers for many couples and this is something that needs to be discussed more. Unless you have done years of study and clinical research into fertility and reproduction, you cannot understand the finer details and intricacies of conception. Even then, some answers are just not available to anyone at this present time.

The Reality of Fertility and Reproduction

The reality of fertility and reproduction is that just because an egg and sperm are put together, it does not mean that an embryo will be formed. Even if an embryo is formed, it does not mean that it will become a baby. Even if an embryo meets scientific grading categories (grade 1-4 etc), it still does not mean that the inner make up of that embryo is chromosomally viable. Even if the embryo is tested to be chromosomally viable (via PGD/PGS testing), it still does not mean that the embryo will go on to become a baby. This is the hardest thing for people to get their heads around and why we need to discuss this more. Quite simply, something that is supposed to seem easy really isn’t that easy at all. Reproduction and having babies is not as easy as many have led us to believe.

Chromosomal Errors

One of the biggest factors in embryos not developing, or IVF cycles failing, or even natural conception not working is chromosomal errors at the embryo stage. Even if both parents have normal karyoptype (46XX and 46XY) it does not mean that they cannot produce random chromosomal and genetic errors in their sperm and eggs. The thing is, the older we get, the more these errors occur and the harder it is to fall pregnant. An abnormal embryo with and abnormal number is cells is called aneuploidy. When an embryo has the correct number of cells it is called euploidy. Unfortunately, many couples are producing high numbers of aneuploidy embryos and this is why they are struggling to conceive. As mentioned before, just because the outer features of the embryo look fine, it does not mean the inner workings (chromosomes and DNA) are fine.

The Important of Genetic Screening

Speaking about chromosomal and genetics, when couples are struggling with fertility and being able to conceive, one of the biggest factors I see is that couples are not being screened properly. This is screening on all aspects, not just the standard blood tests and fertility investigations. Many couples that come to see me for help for fertility often believe that they have had everything done, yet most times I am finding that they have only had the basics done. Many couples have not even had basic genetic screening for karyoptype and genetic issues such as cystic fibrosis.

Understanding the Coding on DNA

Understanding the coding on the DNA is now having a profound practical impact on the practice of medicine today. This is particularly important in the area of infertility. There is increasing knowledge that there is frequently a major genetic component both from nuclear and mitochondrial DNA in couples with infertility or subfertility.

Significant examples include:

  • The demonstration of microdeletions on the Y chromosome in men with low sperm count (oligozoospermia)
  • The identifications of mutations in the Cystic Fibriosis gene in those with congenital bilateral absence of the vas deferens
  • The high rate of aneuploidy in normally dividing embryos after fertilisation in older infertile couples
  • The presence of an expanded triplet repeat in the androgen receptor in some men with low sperm counts.

Without seeing someone who has all this  knowledge of the molecular and genetic basis  of fertility many couples will continually have troubles trying to fall pregnant and may possible end up with repeated failed cycles in IVF too. There is so much to genetics and it is often overlooked in all areas of fertility these days. No amount of “Dr Google” is going to give you this information, nor will it give you understanding, unless you have a degree in reproductive medicine, or genetics. I do understand that people get desperate for answers, but unfortunately, sometimes these answers cannot be found by an internet search.

Other Genetic Factors Affecting Fertility

There are also other genetic conditions and chromosomal errors such as balanced translocations, reciprocal translocations, Robertsonian translocations, Turner’s syndrome, Kleinfelter’s syndrome, fragile X syndrome and many more. Again, many who are struggling with fertility issues and struggling to have a baby may not have even had some of these genetic screening done.

When I see couples, I also recommend advanced genetic carrier screening which tests for several hundred more genetically inherited mutations. Many fertility clinics do not recommend couples to do advanced carrier screening. Given that 1 in 22 couples are at risk of a hereditary gene mutation, it is really important to screen couples properly and not just do the basics.

Mutations in Genes

A mutation is a change in the information encoded in the DNA sequence. Such a change may result in the production of an abnormal protein, produce a truncated protein, reduce the levels of that protein, or cause it not to be made at all.

A single gene genetic disorder is one where an alteration in the DNA sequence of only one of the genomes 40,000 genes has resulted in significant pathology and disorders that affect the human body.

Such disorders include cystic fibrosis, Duchenne muscular dystrophy, Huntington disease and familial breast cancer. Although individually these disorders are rare, as a group, they are numerous and therefore important.

Cystic fibrosis, one of the most common autosomal recessive conditions affecting people of Northern European decent has a population incidence of 1 in 2,500.

To date up to 6,000 single gene disorders have been characterized and it is estimated that 14 per 1,000 people suffer from one of these conditions. A person who inherits a mutation in a single gene will carry that mutation in every cell of their body.

Mutations occur when a cell is dividing. The task of correctly copying 6 billion “bits” of information, the number of base pairs in the human genome, is huge and mistakes do occur. It has been established experimentally that these mistakes occur and are uncorrected in one in one billion base-pairs copied (or about 6 errors per cell division).

When a mutation occurs in the coding DNA sequence of a gene it may be a polymorphism with no effect or it may significantly impair the gene function. All mutations are thereafter inherited. Inherited or germ line mutations must be present in the egg or sperm. They are twice as common in sperm as eggs.

 Male Sperm Quality is a Big Part of Fertility Issues

Before everyone jumps to the conclusion that all failed cycles are related to women’s egg quality, I need to make it absolutely clear that men are half of the fertility equation. They are not exempt when conception does not take place, or an IVF cycle fails. As mentioned above many genetic mutations are twice more likely to be present in sperm than eggs. Up to 85% of miscarriage and chromosomally defective embryos are related to chromosomal errors that men have passed through their sperm.

Women’s eggs do have more errors as they get older, and eggs are not as viable as they get older, but men’s sperm are exactly the same. If men are not having their sperm quality managed while trying to fall pregnant, there is half your problem then and there. This is why all men are treated and managed on all levels of their health when doing my fertility program.

Sperm quality is variable and each time a man ejaculates the quality of that sperm can vary by as much as 20% at a given time. This is why men need to be continually looking after their health and sperm health while trying to conceive. Men are actually the bigger part of conception not taking place and we need to talk about this more. Men are not exempt when it comes to making babies.

Creating Life

Life does not begin with conception, but is simply a continuum from living cell to living cell with genetic information being transmitted through the genome from one generation to the next. A failure to achieve this is recognised as infertility.

At conception we are a single fertilized cell resulting from the fertilization of the egg by the sperm. The sperm contributes one copy of nuclear DNA, the egg the other copy and the mitochondrial DNA. That cell proceeds to divide, and over the course of 9 months (32 cell divisions) billions of cells are created, with specialized functions, forming complex tissues and organs that constitute the working human body. That first cell therefore must contain all the information necessary for embryological development, growth from fetus and then growth through to adult life. Without all the right coding and necessary information, life does not get created. This is also the answer to why so many couples are having problems trying to conceive.

The Importance of Seeing a Reproductive Medicine Expert

There are many factors to fertility and reproduction and why it is important that couples see someone who is a fertility expert. The fertility profession is largely unregulated and many who are now practicing in that profession are not experts at all. Many actually do not have further training and qualifications in reproductive medicine and are some of the reason why people are struggling to fall pregnant.

Final Word

Lastly, while we cannot change our chromosomes, or change genetic mutations, we can do things to change and improve our cellular DNA. This is why proper preconception care and preconception programs are so important. Everything we do, we ingest, we think etc, can be passed on to our future offspring via sperm and eggs. Health parents produce healthy sperm and eggs, thus producing healthy babies.

If you need help with being able to conceive, give my friendly staff a call and find out how my fertility program may be able to assist you. I use a ‘No Stone Left Unturned’ approach to assisting couples with fertility issues and will look at every aspect of a couples lives, including genetic and hereditary issues, to help them have the best chance of having a baby.

Regards

Andrew Orr

-No Stone Left Unturned

-Master of Reproductive Medicine

-The International Fertility Experts

Ovarian Cancer Awareness 1

Let’s Talk About Ovarian Cancer

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Ovarian cancer often has no symptoms in the early stages. Later stages are associated with symptoms, but they can be non-specific, such as loss of appetite and weight loss.

Ovarian cancer often goes undetected until it has spread within the pelvis and stomach. At this late stage, ovarian cancer is more difficult to treat and can be fatal. This is why early intervention is something I am very big on and why we all need to not put things off when they present themselves.

Ovarian cancer is the 9th most common cancer diagnosed in Australian women.

Ovarian cancer is the 6th most common cause of cancer death in Australian women.

The present life expectancy of Australian women is 84 years. One in 77 women will be diagnosed with ovarian cancer before the age of 85.The risk of ovarian cancer increases with age. About 83% of all new cases of ovarian cancer diagnosed in 2005 were in women 50 years or older. The median age of first diagnosis is 64 years.

The five year survival rate for ovarian cancer is 45%.

Symptoms
Most women with ovarian cancer experience at least one symptom of the disease in the year prior to their diagnosis. The following can all be signs of ovarian cancer:

  • Abdominal bloating
  • Abdominal or back pain
  • Appetite loss or feeling full quickly
  • Changes in bowel habit
  • Urinary frequency or incontinence
  • Pain during intercourse
  • Menstrual irregularities
  • Unexplained weight loss or gain
  • Indigestion or heartburn

Why is bloating a sign of ovarian cancer?

Ascites (a build-up of fluid in the abdomen and a sign of advanced ovarian cancer) is probably the major cause of bloating in women with ovarian cancer. Therefore, waiting for bloating as a key ‘sign’ is too late and we want to encourage all women to ‘know your normal’ and if this changes, to seek medical help. This is why any changes in the body need to be looked into. Many may think that they are reacting to foods, or they have a gut issue etc, but it may actually be the signs of ovarian cancer. This is why proper investigations and proper differential diagnosis by a trained professional is so important.

Family history
While having a family history of ovarian cancer increases a woman’s risk of developing ovarian cancer, 90-95 per cent of all ovarian cancers occur in women who do not have a family history.

Key factors associated with increased risk include:

  • Multiple relatives on the same side of the family affected by breast cancer (male or female) or ovarian cancer
  • Younger age at cancer diagnosis in relatives
  • Relatives affected by both breast and ovarian cancer
  • Relatives affected with bilateral breast cancer
  • An increase in age
  • Inheriting a faulty gene (called a gene mutation) that increases the risk of ovarian cancer
  • Being Caucasian (white) and living in a Western country with a high standard of living having few or no full-term pregnancies
  • Starting your menstrual cycle early (before the age of 12) and beginning menopause after the age of 50
  • Taking hormone therapy (HT) after menopause. Some studies suggest this may increase your risk of developing ovarian cancer, but others don’t make this connection
  • Never having taken the contraceptive pill – the pill has been found to reduce the risk of cancer of the ovaries and uterus
  • Only five to 10 per cent of all ovarian cancers are associated with a family history. The risk of developing ovarian cancer increases with the number of affected first degree relatives (parents, siblings, children)
  • Ashkenazi Jewish ancestry.

Diagnosis for Ovarian Cancer

There is currently no evidence to support the use of any test, including pelvic examination, CA125 or other biomarkers, ultrasound (including transvaginal ultrasound), or a combination of tests, to screen for ovarian cancer. The only way to properly screen for it is through histology done at the time of laparoscopy.

While CA126 can be a diagnostic, it really has limited value and I have to let people know that it isn’t the best diagnostic at all. 50% of ovarian cancers will actually have a normal CA125 reading.

The cancer council’s guidelines are quite clear about this after numerous research studies show that CA125 has limited diagnostic value for Ovarian cancer. If markers and symptoms are suggestive of Ovarian Cancer, the only true diagnostic is Laparoscopy with histology to really get an accurate diagnosis.

Treatment for Ovarian Cancer

At such an advanced stage, the cancer is more difficult to cure. As ovarian cancer advances, cells from the original tumor can spread (metastasize) throughout the pelvic and abdominal regions and travel to other parts of the body. Cancer cells are carried through the body through lymph vessels and the bloodstream.

If a woman is suspected of having ovarian cancer, she should be referred to a gynaecological oncologist. Research shows survival for women with ovarian cancer is improved when their surgical care is directed by a gynaecological oncologist.

Treatment for ovarian cancer usually involves surgery and chemotherapy. It may also include radiotherapy.

Usually your healthcare practitioner, or GP, will generally arrange for initial tests and looks after your general health as well as coordinating with your specialists. Depending on your treatment you will be seen by several specialists, such as: medical oncologist, radiation oncologist, radiologist, gynaecological pathologist, cancer nurses and other health professionals such as a dietitian, physiotherapist, social worker and a counsellor.

With any condition that affects the body, we often get early warning signs and this is why early intervention and making sure you are investigated and management properly is so important.

Regards

Andrew Orr

-Women’s and Men’s Health crusader

-No Stone Left Unturned

-The Women’s Health Experts

01 Dr Andrew Orr

Let’s Talk About Iron

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Let’s talk about iron. After my recent post about me having haemochromatosis and the importance of regular venesection and proper screening, I thought we should talk more about iron.

We need to not only talk about high iron and genetic disorders, such as haemochromatosis, but also talk about iron deficiency and proper screening and management of that as well.

In this video post I talk high iron, low iron and everything in between. I also talk about genetics and auto-recessive genetic pathways and the parental mode of inheritance.  This also goes for many other health conditions we see in people.

Please remember that early intervention, early screening, early treatments and early management is the key to any disease state.

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Western Diet Permanently Alters the Immune System & Alters Gene Expression

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For many years we have been trying to explain to people how their diet is a major factor in their current health and how a poor diet can actually cause expression of many inflammatory disease states within the body. There is now research which shows how the western diet permanently alters the immune system and alters gene expression.

New research has shown that our immune system responses to the Western diet very similar to how it reacts to infection by dangerous bacteria. The research was led by the University of Bonn in Germany and published in the journal Cell.

One of the disturbing results of the study is that the longer we consume a high GI, highly refined foods, and Western diet, that it can make the immune system become hyper-responsive to inflammation triggers. We know that a diet in highly processed foods and refined carbohydrates actually causes high inflammation in the body.

The longer we eat this way, these long-term changes may contribute to type 2 diabetes, arteriosclerosis, inflammatory bowel conditions, cancers,  gynaecological conditions,  and several other conditions wherein inflammation is thought to play a part, and which have been linked to consumption of a highly refined Western based diet.

The Western diet altered gene expression

The new research showed that just after just 1 month, there were changes throughout the bodies that are similar to the strong inflammation reactions that occur in bacterial infections. The researchers showed that an unhealthy high GI/highly refined diet led to increases in certain immune cells, which were a sign of inflammation and an infection like process. They also found that the Western diet had switched on many genes in the body that would also express many disease states and inflammatory processes in the body.

The researchers concluded that  findings highlight the dramatic impact that the wrong kind of food can have, and that they have important implications for society, especially for children who grow up with this highly inflammatory based diets and consume them longer.

The researchers concluded that adults and children have a choice of what they eat every day. We should enable everyone, especially children,  to make conscious decisions regarding their dietary habits. The new research also highlighted that dietary habits and the foundations of what a healthy diet is, need to become more prominent in our education system and it needs to start at a younger age. We also need to re-educate adults on what a healthy diet is as well

At my clinic, we can help people to know what a healthy diet is and this education is also passed onto people we help with inflammatory disease states.

We always promote a Primal/Low GI/grain free diet to all our patients so that they can be healthier, have less inflammation in their bodies and live longer and happier lives.

Regards

Dr Andrew Orr

-No Stone Left Unturned

-Women’s and Men’s Health Expert

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Endometriosis Awareness Month March 2019

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Dr Andrew Orr has an honest and open talk about Endometriosis Awareness Month and also about the disease itself.

Dr Andrew Orr talks about the facts, the myths and what women with endometriosis go through on a daily basis.

He also discussed that there is help out there and what is needed in a multi-modality (team like) approach to care and ongoing management of the disease

Lastly, he wants every women, and man, to know that Period Pain IS NOT Normal and that women do not need to suffer in silence. There is always help out there and you just have to find the right people who will care, listen and help you in every aspect that you need.

Dr Andrew Orr has a special interest in Endometriosis and does research and lecturers about this horrible disease that affects 1 in 10 women world wide. If you do need help with period pain, or endometriosis and the associated symptoms, please give his clinic a call. Please do not suffer in silence alone. There is help out there. Dr Andrew Orr’s motto is “No Stone Left Unturned” and he uses this to assist all his patients.

Take care

Regards

Dr Andrew Orr

-No Stone Left Unturned

-Women’s and Men’s Health Expert

01 Dr Andrew Orr 1

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Endometriosis ‘Is Not’ An Autoimmune Disease

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There are many statements made about endometriosis and many of them are not factual. This goes for the statement that Endometriosis is an autoimmune disease. In this article I will explain why this statement is false, and not true, and the reasoning behind it.

Everyday I get people telling me all sorts of facts and fictions they have heard on Dr Google. As I always say to people, Dr Google is not a reliable source of health information, unless it is from peer reviewed medical sites. Even then these sites are pretty much restricted to the general public.

Many people are looking for the miracle cure for endometriosis, or the holy grail of causes of it, and why wouldn’t you if this was affecting your life. I know from personal experience with health issues, I do want to know what the cause is and how to treat it.

But like so many conditions many people face each day, sometimes there is no answer just yet. Sometimes we don’t have all the answers and that is just how it is. When this is the case for a disease, I always tell my patients to not get caught up so much on the cause, but rather do the known treatments and management to get better. This is what really matters the most. Plus, like any disease, we need to look at treating the individual and not treat the masses.

Many diseases like endometriosis need a multi-modality approach to treat them effectively and this how I treat my patients and why I have so much success with treating endometriosis. It is about employing the right treatments and treatments that work.

Endometriosis does not fit the classification of an Autoimmune Disease. 

What we do know is that endometriosis is made worse through diet and lifestyle and external influences. We also know that internally there are many things that exacerbate endometriosis too. Behind it all, it is an inflammatory based disease. Any inflammation in the body makes it worse. Plus, endometriosis itself can inflame the body too.

Endometriosis is very much an ‘autoimmune like’ disease, because inflammation is a major driving factor, but it isn’t an autoimmune disease. Endometriosis does not fit the classification of an autoimmune disease as it does not produce auto-antibodies. We also know that endometriosis is normal tissue growing in abnormal areas. Again not producing auto-antibodies.

What we do know

We know that retrograde menstruation is a big factor for some women, but we also know that retrograde menstruation isn’t a factor for others. What we do know is that estrogen is a big driving factor and that endometriosis is estrogen driven. It isn’t from estrogen dominance, or estrogen excess either. What we do know about endometriosis, is that like autoimmune diseases, it is also passed on via genetic and hereditary factors. But again, endometriosis is not an autoimmune disease and does not fit the classifications of an auto-immune disease at this stage.

Like many diseases we get in our body, we often have other disease states expressed at the same time and can be purely coincidental. Some can come from hereditary factors and people are just predisposed to getting this diseases and when the body is inflamed, it just causes this other diseases to be expressed too. If someone has an autoimmune disease and also has endometriosis, this does not mean that endometriosis is autoimmune. There are many women who have endometriosis and who do not have autoimmune diseases as well.

Inflammation is a driving factor 

If a woman has an autoimmune disease at the same time as endometriosis, this is purely coincidental, or it is another hereditary factor that may have been passed onto them through their parent. It needs to be treated independently and not as part of endometriosis. It is all inflammation at the end of the day, so addressing inflammation and immune response will not only help the secondary autoimmune disease, but it will also help the endometriosis.

I’ve talked about the facts and fictions of endometriosis before and we really cannot say endometriosis is an autoimmune disease, because there is no credible, or conclusive research to back that up at this stage.There maybe in the future, but at this stage there is not, so we cannot say that endometriosis is an autoimmune disease.

Is the immune system & inflammation a part of endometriosis? … It sure is

Is endometriosis and autoimmune disease? … It isn’t at this stage

Hope this helps to shed some more light on this disease that affects so many women around this world. Hopefully one day soon we will have all the answers and we can end the horrible world of endometriosis.

If you want to find out more about how endometriosis is not an autoimmune disease, have a read of this great article by A/Prof Jason Abbott from Endometriosis Australia’s page. Click Here

Regards

Andrew Orr

-No Stone Left Unturned

-The Endometriosis Experts

-The Women’s Health Experts

-“Period Pain is Not Normal”