Category Archives: Genetic Disorders

Untitled design 10

Breast Cancer Awareness

Posted on by

Breast cancer awareness is something that everyone should know about. Mankind has known breast cancer since ancient times. In 460 B.C. Hippocrates explained breast cancer as a disease caused by an excess of black bile, or “Melancholia”. He named the condition ‘Karkinos’- (Cancer)- the Greek word for crab and the astrological constellation. This was because the tumor seemed to have tentacles which reached out into the surrounding breast tissue, resembling the legs of a crab.

The history of Breast Cancer

This theory of Hippocrates held for many centuries until 1680, when the French physician Francois de la Boe Sylvius suggested that Breast Cancer developed from an increase in the disruptions of the acidity of local lymphatic fluids.

There were many theories that followed including celibacy causing breast cancer, too much rigorous sex causing disruption to the local lymph drainage and thus causing breast cancer and others linking breast cancer to mental disorder-the melancholia references again.

In 1757 Dr Henri Le Dran was the first person to suggest that the surgical removal of the tumor was the most effective treatment, provided all the lymph nodes in the armpits were removed. This must have been a horrific prospect prior to anaesthetic and proper sterilised surgical procedures. The survival rates were appalling, due to immediate death post surgery from the high infection rates. It wasn’t until 1976 that advancement in radiation and chemotherapy actually took place. This really isn’t that long ago and the first mammogram trails showing reduction of breast cancer due to early screening, where only initiated in 1989. To think that in such a short spam of time, we now have this as a routine screening tool that can save lives.

It wasn’t until 1994 that scientist have isolated the first of the genetic mutations associated with breast cancer and these genetic screening for the gene mutations and being predisposed to breast cancer. This screen has led to Angelina Jolie having a double mastectomy when testing revealed she had the BRCA1 gene mutation which predisposed her to both ovarian and breast cancer. It was estimated that Jolie had an 87% risk of breast cancer and a 50% risk of ovarian cancer. Jolie’s mother died at 59 from the disease in 2007.

Since Angelina Jolies decision, there was a surge in enquiries around genetic testing and medical evaluation as to breast cancer risks across all parts of the world.

Breast cancer remains the most common malignancy in women, comprising 18% of all female cancers and there is 1 million cases of breast cancer diagnosed worldwide. Most women will know someone who has had the diagnosis, based on these figures.

Despite all the testing and screening it is estimated that about 40% of women have never discussed their risk factors with there doctor, or health care practitioner.

So what can you do to reduce your risks?

The first thing anyone can do is check yourself for any noticeable signs of changes to the breast. You can also have a routine breast examination at your doctor.

Next is regular mammogram, or ultrasound screening, followed by biopsy if anything suspicious is found. Screening for genetic predisposition is another tool that should be used by all women too. About 10% of breast cancer in developed countries is due to genetic predisposition. Certain populations of people have higher genetic risk factors with the Ashkenazi Jewish population having the highest risk factors and well as risk factors for some rare genetic diseases.

The good thing with early screening and detection is that we have now seen in increase in survival rates with the increase between 72-89%.

There are also other risk factors that people need to take into consideration. Women who have their menstrual cycle too early and those who go into menopause later in life are at increase risk of developing breast cancer. Having a baby later in life also increases the risk factor for cancer. Having a baby after 35 years old doubles the risk, while having children earlier reduces the risk. Breast-feeding also reduced the risk of breast cancer too.

Obesity and lifestyle factors increasing breast cancer risks

Obesity and increased alcohol intake also increases a woman’s risk and doubles the chances of having breast cancer. Obesity doubles a woman’s risk factors in postmenopausal women and increased alcohol intake (3-6 standard drinks per day) also doubles the risk factors.

Women on the combined pill also have in increased risk of breast cancer, while progesterone only options do not increase the risk.

Lifestyle modifications

Since there is compelling evidence alcohol and obesity increase the risk of breast cancer, women do need to reduce their alcohol intake and also aim to keep their weight within a healthy range.

This is why we all need to be looking at anti-inflammatory based diets, free from inflammatory wheat grains, excess refined soy products, alcohol, refined foods and refined sugars. These highly inflammatory based foods all lead to excess blood sugars, which in turn spike insulin product. This then causes interference to hormone metabolism (namely estrogens) and also causes the body to store fats and stops the burning of fats, again interfering with estrogen metabolism. This is turns causes inflammation, which is he cause of many of our disease states and leading causes of death.

This is why I always promote a Primal based, low inflammatory, clean eating diet. This is the basis for my PACE-Diet and Lifestyle program (Paleo/Primal Ancestral Clean Eating) that I promote to my patients. This style of diet promotes leans meats, fresh fruits, nuts, seeds, good fats, fresh vegetables and salads, clean water etc. This is very similar to the famous Mediterranean diet, which has to date never been scrutinized and has lot of research behind it. Eating this way will not only make you healthier for it, but will be reducing your risk factors around any inflammatory disease state. Just remember that 90% of breast cancers come from non-hereditary factors related to lifestyle and the way we eat in the modern world.

Early detection and awareness is vital

It is well known that early detection and treatment is vital to survival rates in women with breast cancer. It is so important to regularly check for lumps and bumps and talk to your doctor about regular screening. If you have hereditary risks then talk to your healthcare provider, or specialist about genetic screening for breast cancer.

Let’s all raise awareness for breast cancer and support more research into finding a cure for this disease that affects millions of women world wide each year.

Regards

Andrew Orr

-No Stone Left Unturned

-Master of Women’s Health Medicine

-The Women’s Health Experts

 

 

Fertility and a piece of string

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

Posted on by

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

genetics and fertility

Understanding How Genetics Play a Major Part in Fertility & Reproduction

Posted on by

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

Let’s Talk About Iron

Posted on by

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.

Adenomyosis or Endometriosis 2

Is it Endometriosis, or Adenomyosis, or both?

Posted on by

Endometriosis and Adenomyosis can often present with the same symptoms and many now believe they may be one in the same disease, just in different locations.

Despite both of them sharing similar symptoms, there are pointers for properly trained professional to which disease may be presenting. Both diseases are often missed and dismissed as well. To learn more about Endometriosis, or Adenomyosis please click on the hyperlinks.

I have previously put up posts about hysterectomy not being a cure for endometriosis. It often causes lots of people to question this statement, because some uneducated healthcare practitioner has told them differently. Some may have had some relief from having a hysterectomy and now believe their endometriosis has gone.

Before I go any further, I do need people to know the facts. Hysterectomy does not cure endometriosis, but is can help Adenomyosis. There is no cure for endometriosis. I have explained the reasons why in my resent post Hysterectomy does not cure endometriosis. Please click on the hyperlink to find out the facts.

Many women who have Endometriosis, or Adenomyosis are often missed and dismissed for up to 10 years or more, before a diagnosis is made. This is due to the fact that many healthcare practitioners do not know the symptoms of these disease states, or dismissed them as being normal. That is a fact. This is why it is important to see someone who has a special interest in Endometriosis, or Adenomyosis.

With both Endometriosis and Adenomyosis, they share many common symptoms such as:

  • Painful periods
  • Pain with intercourse
  • Ovulation Pain
  • Dark and clotted menstrual blood
  • Digestive upset
  • Pain on bowel movement
  • Bowel or bladder issues
  • IBS like symptoms
  • Pelvic pain and rectal pressure
  • Infertility

What is the difference between Endometriosis and Adenomyosis?

The one thing that usually sets them apart is that Adenomyosis usually has more heavy menstrual bleeding, abnormal uterine bleeding and more flooding symptoms. Endometriosis can have this too, but usually adenomyosis presents with more blood loss symptoms and abnormal bleeding.

Endometriosis ‘cannot’ be definitively diagnosed via ultrasound, or MRI, but adenomyosis can be diagnosed via both of those methods. Endometriosis can only be definitively diagnosed via surgical intervention (laparoscopy). This is the biggest difference with the two disease states. The other thing is that both disease states can be present at the same time and quite often do.

The biggest issue for many women is that when one disease state it found, the other one is quite often overlooked, or misdiagnosed. Many women, and healthcare professionals, are unaware that both the disease states can be present at the same time and this is a real issue.

Hysterectomy will help Adenomyosis, but it ‘will not’ cure Endometriosis.

As I have mentioned earlier, hysterectomy does not cure endometriosis, but it can help adenomyosis. Many women have been led to believe that hysterectomy will cure their endometriosis and associated symptoms, but this is not true.

Some women who have had a hysterectomy and then think they are getting relief from symptoms of endometriosis, but are actually getting relief from adenomyosis not being there anymore. It is just that they did not know it was there, they have never been diagnosed, and then believe their endometriosis is cured. Once the uterus is removed, the adenomyosis is removed too. Then all the adenomyosis abnormal bleeding, period pain and period related symptoms are usually gone as well.

The only trouble is, if a woman has been diagnosed with endometriosis, the endometriosis will still be there. That is a fact. Endometriosis does not miraculously go away after a hysterectomy. Endometriosis is not in the uterus. Some symptoms (usually the menstrual related symptoms) can settle for some people, but for many it does not. Regardless the endometriosis will still be there and can continue to grow and cause havoc elsewhere in the body too.

Proper investigation is important

When women come to see me for help with Endometriosis, or Adenomyosis, I always make sure they are investigated for both disease states. If a women has abnormal uterine bleeding, or heavy menstrual bleeding and they have only been diagnosed with endometriosis, I will always make sure that they are investigated to see if they have Adenomyosis as well. I will also screen for genetic issues such as Von Willebrand’s Disease and other pelvic pathology that may cause bleeding as well.

It is also very important that women with both Endometriosis, or Adenomyosis, or both are are also screened for iron deficiency too.

Hope this explains a little bit more about Endometriosis and Adenomyosis and a bit more about which disease state hysterectomy will, or won’t help.

If you do need help and assistance in managing endometriosis, or adenomyosis, or both, please give my friendly staff a call and find out how I may be able to assist you.

Regards

Andrew Orr

-No Stone Left Unturned

-The Endometriosis Experts

-The Women’s Health Experts

blood 1813410 1920

Von Willebrand Disease

Posted on by

Von Willebrand Disease (VWD) is the most common inherited bleeding disorder diagnosed in women with heavy abnormal uterine bleeding, due to a coagulation defect.

Women with this disease may also have some tendency to bruising/nosebleeds in childhood but it will be when they get there first period that deficiency in von Willebrand factor – an essential protein required for both normal platelet function and as a co-factor to Factor VIII in the clotting cascade, most frequently presents.

A parent with VWD has a 50 per cent chance of passing the affected gene on to each child. VWD can affect both men and women. Sometimes genes mutate or change and can skip generations. Sometimes a child may have VWD but there was no family history of the condition. This means that VWD can occur in any family.

Women with this condition will present with excessive or prolonged bleeding with all other investigations normal (e.g. structural abnormalities are excluded). The diagnosis of Von Willebrand’s disease is by means of a coagulation screen and vWF antigen testing.

History behind Von Willebrand’s disease

Von Willebrand’s disease is named after Dr Erik Adolf von Willebrand, a Finnish paediatrician. In 1924, a 5-year-old girl was brought to the hospital in Helsinki where von Willebrand worked. He diagnosed her with a bleedingdisorder which he recognised was different from the haemophilia which was initially suspected. He subsequently assessed 66 members of her family and in 1926 first described the disease and its inheritance.

Von Willebrand’s disease is the commonest coagulation defect in humans-but is also seen in dogs (notably Doberman Pinschers),and more rarely in swine, cattle, horses, and cats.

Symptoms of Von Willebrand’s Disease

Many people with the disease do not have any symptoms. Those who do may find that they:

  • have lots of nosebleeds
  • bruise easily
  • have heavy menstrual (period) flow
  • bleed excessively from the mouth.
  • The presence in your menstrual flow of blood clots greater than 1 inch (2.5 centimeters) in diameter
  • The need to change your menstrual pad or tampon more often than hourly
  • The need to use double sanitary protection to control menstrual flow
  • Symptoms of anemia, including tiredness, fatigue or shortness of breath

There are three main types of VWD:

  • Type 1
  • Type 2
  • Type 3.

These can be broken down into further categories. The most common are types 2A and 2B.

Complications of von Willebrand disease may include:

  • Anaemia– Women who experience heavy menstrual bleeding are more at risk of iron deficiency anaemia.
  • Swelling and pain-If abnormal bleeding occurs in the joints or soft tissue, swelling and severe pain can result.
  • Death from bleeding –Rarely, someone with Von Willebrand’s Disease may experience uncontrolled bleeding that can be life-threatening and needs emergency medical attention.

There are hormones and other medications that can help with the acute bleeding that can present with VWD.

Although Von Willebrand’s Disease is the most common pathology, other bleeding disorders including thrombocytopaenia and haemophilias should be considered. Consultation with a haematologist should be considered when a coagulation defect is diagnosed, or when the history suggests a clotting disorder. The main aim is to to manage the underlying disease but to also help with effective menstrual regulation (usually with combined contraceptive pills).

Regards

Andrew Orr

-Women’s and Men’s Health Advocate

-No Stone Left Unturned