#MTHFR gene mutation and pregnancy

[mehmetyildizmelbourne-blog]

MTHFR Gene Mutation: Why It Matters & How to Get Tested

Discover the Role of the MTHFR Gene, the Impact of Its Mutations on Your Health, & How You Can Get Tested to Understand Your Genetic Risk Factors You may not have heard of MTHFR, but this enzyme plays a vital role in our body’s ability to process folate (vitamin B9) and maintain your DNA. Related to another critical B vitamin, I recently wrote a story about the global B12 epidemic.  Analyzing…

[understandingfertility]

Exploring the Relationship Between Fertility and MTHFR Gene Mutations

MTHFR gene mutations have gained attention in the field of fertility because increasing evidence points to a possible connection between these genetic variations and reproductive health. At the best IVF center in Indore, we explore the complex relationship between fertility and MTHFR gene mutations, providing information on how genetic factors may impact fertility results and IVF treatment cost in Indore.

Understanding MTHFR Gene Mutations:

Genetic Variants:

The MTHFR gene produces a chemical involved in the methylation process, which is necessary for various bodily functions, including DNA repair and regulation of hormones. Changes in the MTHFR gene, particularly the C677T and A1298C variants, can affect enzyme activity and lead to impaired methylation capacity.

Impact on Fertility:

Research suggests that MTHFR gene mutations could impact fertility by affecting processes like embryo placement, placental development, and hormone metabolism. Women with MTHFR gene changes may be at increased risk of recurrent pregnancy loss, preeclampsia, and other pregnancy complications.

Navigating Fertility Challenges at the Best IVF Center in Indore:

Comprehensive Genetic Testing:

At the best IVF center in Indore, we offer comprehensive genetic testing to identify MTHFR gene mutations and other genetic factors that may impact fertility. Understanding a patient's genetic profile allows us to tailor treatment plans to address individual needs and optimize fertility outcomes.

Personalized Treatment Approach:

Our experienced fertility specialists take a personalized approach to fertility treatment, considering genetic factors such as MTHFR gene mutations in treatment planning. By integrating genetic information into our protocols, we aim to maximize the chances of success for our patients undergoing IVF and minimize IVF treatment cost in Indore.

Conclusion:

As our understanding of the role of genetics in fertility grows, MTHFR gene mutations are now recognized as a possible contributor to reproductive health challenges. By seeking care from the best IVF center in Indore, people can access through genetic testing and personalized therapies that address genetic factors and optimize fertility results. Contact us today to learn more about how we can support you on your journey to becoming parents with skills, compassion, and personalized attention.

[nutritionexpert]

personalized Nutrition

Mariam Ashfaq

Personalized Nutrition:

Personalized nutrition (PN) is also termed “as nutritional genomics and personalized or customized nutrition”. Personalized nutrition directs the consumption of diet for health optimization and wellbeing. Factors: Many factors contribute such as:

 Biochemistry

 Metabolic rate

 Inherited genes

 Microbiomes

 Physical activity level

 Sleep pattern

 Dietary habits

 Epigenetics

Need of Personalized Nutrition:

 As it has been stated according to many researches that chronic diseases are the main leading cause of death in worldwide. Moreover, it has also been deduced that consumption of poor diet sources is a risk factor for chronic diseases.

 It has been investigated that the diseases such as obesity, cardiovascular and cancer can originate in the first two years of life due to lack of nutrient rich diet. Thus, PN has been noticed to explicate and positively influence that diet figures an individual’s response to nutrients and, mutually, that genetic composition influences the metabolism of nutrients and requirements of nutrients in regard to optimize the capability and health.

 Weight management

 Improve mood and productivity

 For diabetes

 Cancer, cardiovascular and arthritis

 For hormone imbalancenment

 Individuals with GI complaints

Elements of personalized nutrition:

Personalized nutrition is referred to as the customized nutritional guild lines and interventions to manage, cure and avert the onset of chronic diseases and improve health and quality of life. Three elements defined the basics of personalized nutrition: 1. Personalized sciences and data 2. Personalized guidance and therapeutics 3. Personalized education and training

Relation of omics and personalized nutrition:

 Genomics the study of hereditary genes helps to determine the incidence of mutation in genes or provide the knowledge of genetic disorders in order to design more effective nutritional strategies or guidelines to optimize the well-being. Hence, decoding the gene expression can help to diagnose the underlying cause of disorders. Therefore, translation of omics data can facilitate to develop clinical and personalized interventions. This may include:

 Proteomics: it defines the encoding of protein within the genetic material of human being and characterizing the protein functions.

 Metabolomics: it refers to the metabolites produced as a result of protein action.it ensures the level of concentrated metabolites.

 Microbiomes: this discipline refers to the gut microbiomes activity within their respective cavities such as oral, vagina or intestinal lumen. The colonization of these microbiomes influences the digestion and absorption of food. They play a role in defining the biological processes and indicate the health issues such as diabetes, inflammation in brain or host immune function modulation. Hence, study of genome and microbiome help to design more personalized nutritional interventions to manage, prevent and cure the disease.

Nutritional genomics:

The branch of nutrition which usually involve:

 Nutritional genomic

 Nutri-genetics

Epigenetics

Nutritional genomics:

It mainly emphasizes on diet disorders and lifestyle disorders and also defines the interaction between the inherited genes and environmental factors like bioactive components in food, containments, stress and sleep.

Nutri-genetics:

It identifies the variation in genetics which impacts the functioning of organs. For an instance the mutation in gene 5,10-methylenetetrahydrofolate reductase (MTHFR) which is convert folate or folic acid into 5-methyl folate which is the active form of folic acid can result in the low activity of enzymes. Hence, no activation of folic acid therefore, these individuals require active form of folic acid to optimize their health.

Epigenetics:

The field of epigenetics explains that genes which contain all the genetic information responsible for organ functioning as once an organ cell is differentiated and well defined for its functioning are not only the risk factor for the onset of chronic diseases. However, the environmental element or lifestyle factor also play a role along with genes as for an instance it is not uncommon for two identical twins having the same genetic makeup and characteristics that one of them can suffer from disease however other may be healthy. Therefore, it is concluded that not only genetic expression is a culprit for a disease but lifestyle can be too.

Genetics and Nutrition Therapy:

The gene expression can be controlled at two levels mainly referred as:

 Genomic

 Epigenomics

 Transcription of DNA occur by several transcription factors in which ligand and specialized proteins, RNA polymerase attaches to promoter and initiate the process of transcription.it has been deduced that any ligand or any mutation can initiate or inhibit the process of transcription. Hence, bioactive components of food such as omega-3 or omega-6, curcumin, resveratrol, genistein or quercetin can act as a ligand and can activate the process of transcription in a well-defined manner.

However, some pro-inflammatory gens can inhibit the process therefore, it is concluded that these bioactive components of foods can inhibit proinflammatory transcription such as interleukin -1 or nuclear factor kappa B, which in return reduces the chance of genetic mutation or cancer.

 Another marker, epigenetic control can be done at two level, histone modification or DNA modification.it has been deduced that epigenetics only influence during fetal stage in which DNA is modified.

 But now recent research concluded that epigenetics greatly influences the adulthood as in this phase alteration in DNA methylation has been seen. Hence, epigenetic is also associated with several chronic diseases such as cancer and diabetes. Therefore, environmental factor and diet also contribute.

Allergen free diet:

Every human body immune system responds differently for an instance, some people may have severe allergic reactions called as anaphylaxis due to some food allergen and symptoms may include:

 Shortness of breath

 Redness

 Swelling

 Sneezing

 Rhinitis

 Ulceration

 Dermatitis

 Skin reactions

 Itching

 Wheezing

 coughing

Practitioners recommend allergen free diet to those individuals who show Ig E mediated response to some food allergens. Such diet includes peanut free die, tree nut free diet, gluten free diet, casein free milk or yogurt or low FODMAP. Glycemic response:

 Personalized nutrition is important in case of diabetes myelitis as according to a research seen in individuals suffering from diabetes different post prandial glycemic response was observed when given same meals. Therefore, it was decided that personalized diet should be prescribed which depend upon physical activity, sleep, dietary pattern and stress. Hence, personalized nutrition helps to control glycemic ratio and prevent hyperglycemia which when progress for long-term can cause kidney failure or cardiovascular disease.

 For an instance in a research it was investigated that one group consisting of 20 healthy males and the other group consisting of 20 males suffering from diabetes type 2 where tested by giving them glucose drink. The result suggested that there was difference in two group due to different metabolic response

 Another study in which individuals were given two kinds of bread some show high glycemic index to one bread and some show low glycemic index.

Ketogenic diet:

Ketogenic diet, termed as high protein diet and low carbohydrate and low-fat diet is usually prescribed to drive body’s metabolic system in the ketosis state.

 This type of diet usually prescribed to patients such as diabetes. Cardiovascular diseases respiratory disease, females suffering from polycystic ovary syndrome and cancer. latest research also suggests this diet for weight loss as ketones play a role as fuel for body cells.

Nutrition in different stages of life:

 Types of nutrients and food choices and calories differ in different stage of life such as in pregnancy there is more need of calories, iron, calcium and protein. However, in older age fewer calories are required but more nutrient dense food is recommended

Nutrition in different diseases:

Type of nutrient vary in different disorder or diseases for an instance

 In kidney failure low phosphate and low protein diet is recommended

 In cardiovascular diseases low sodium and triglyceride diet is given

 In diabetes low glycemic index food is recommended however, this diet vary from person to person due to other factors

 Microbiota level

 Sleep pattern

 Physical activity

 Genetics

 Stress level

 Age factor

 Food preferences

 Psychology

Personalized nutrition for weight loss:

 In research conducted in UK on obese individuals. Seventy-five individuals were divided into three sections and different eating pattern were implemented on them.

 One of these sections, individuals who found difficult to stop eating due to lack of sensation of feeling of fullness which usually result from the hormone dysfunction, were recommended to consume high protein rich diet and low carbohydrate diet to help them feel satiety.

In other group fasting technique was applied in 5:2 days.in this technique people having the genes which prevent the brain to send satiety signals were recommended to have 12 to 16-hour gap between meals to reduce the consumption of calories. it was done in such such am way that two days fasting and eating normally for five days.

Last group, emotional eaters were treated through cognitive and psychological therapy to overcome the habit of emotional eating and in return decreasing weight.

 It was concluded that individual who consume more protein and less carbohydrate lose 8%of their body mass. therefore, metabolic rate differs from person to person hence, personalized diet is recommended.

Benefits:

 Long term weight loss

 It slow down aging process

 It improves mood and increase productivity

 It enhances fertility rate

 Reduce chronic diseases such as diabetes, cancer and cardiovascular

 Reduce pain and stiffness in arthritis

Challenges of personalized nutrition: 1. Nutrition research: The main challenge faced by many practitioners are as the translated data of human genome is unable to implement as clinical intervention. As the data collection can be costly, may require technicians to operate devices and DNA testing equipment’s which are not affordable for everyone. However, there are many apps for identifying the parameters of health but they are not likely to produce accurate results. Therefore, there is a need for policy making to initiate the platform for public health and well being by installing the technologies and devices or artificial intelligence. 2. Practitioners: Many researchers concluded that many practitioners faced problems in providing personalized strategies according to omics data. 3. Professional education: For an education and training of public, the personalized nutrition should be included in the curriculum of students. institutions should develop policy to educate individual and aware them about recent research of health care. Conclusion: Personalized nutrition is a field that can help humans to prevent, manage and cure the disease.as it includes the translation of human genome and phenotype therefore, is more accurate and can suggest more effective strategies to prevent the onset of disease. However, challenges faced by practitioners can be overcome by developing policies for health care and by providing nutrition education to the public.

[outlandishandpolished-blog]

It's called the MTHFR gene mutation and 60% of the human population has one of the ten strains. 96% of people with autism have the C677T gene mutation. Physical indications of having one or more of the mutations is Mongolian spots, lip tie, stork bite, sacral dimple and sugar bug (the blue vein on the bridge of your nose). Conditions that have been proposed to be associated with MTHFR include: cardiovascular and thromboembolic diseases (specifically blood clots, stroke, embolism, and heart attacks)depression,anxiety,bipolar disorder,schizophrenia,colon cancer,acute leukemia,chronic pain and fatigue,nerve pain,migraines, recurrent miscarriages in women of child-bearing age,pregnancies with neural tube defects, like spina bifida and anencephaly.

I had to take prenatal vitamins that contained L-mythlfolate because my body cannot process folic acid. Many people who have these gene mutations do not know and when they are pregnant, their babies do not get the proper nutrients needed for development. Every human being is unique and should be treated as such, especially when it comes to diet and medication and medical treatments. Besides that, in a free society we should be able to refuse anything that we don't want to do. It's called consent.

[hbratman]

Wow... We're getting more & more beneficial information All the time.... Our Health is Our Wealth that applies to All of Us.... For Everyone but especially for those with the MTHFR gene mutation. Thank you Dr. Kenny for this explanation!!!! 👉🏼Folate vs Folic Acid👈🏼 Whole food VS synthetic multivitamins Folate is the naturally occurring form of vitamin B9. It is found in beans/legumes,🥜 leafy greens🥬🥗, citrus fruits🍋🍊, vegetables🥦 and eggs🥚. Before entering your bloodstream, your digestive system converts it into the biologically active form of vitamin B9. Folic acid is a synthetic form💊 of vitamin B9. Your body does not convert it into active vitamin B9 very well, so unmetabolized folic acid may build up in your bloodstream. This is also linked to an increase in food sensitivities by 37% and food allergies by 18% while administered during pregnancy .... with the researcher being performed by the AAAAI organization. Folate has many important health functions. It is particularly important for woman of child bearing age. People with a gene mutation called MTHFR need Folate, the natural source from food, for absorption. #wholefoodnutrition #folate #nutritionlabel #synthetic #parents #wellness #doctor #physican #moms #mothers #kidshealth #healthandwellness #folicacid #pregnancy #nutrition #dietiations #healthcareprofessional #nutritionist https://www.instagram.com/p/B7qlNc7DVI5/?igshid=rjov5u06t5d5

[thismthfrlife-blog]

December 20, 2017

I found out in 2012 that I have a blood disorder called Factor V Leiden and a gene mutation referred to as MTHFR.  The first became an issue during pregnancy because of the risk of blood clots and miscarriage.  So, I was put on a few prescriptions, including an immense amount of folic acid.  This seemed good because pregnant women are supposed to have folic acid due to the risk of neural tube defects in newborns.  MTHFR was never mentioned to me in any way that indicated a problem by any of my doctors before, during, or after pregnancy.  I actually sort of forgot about it. But, on August 9th my history of migraine troubles exploded into something I had never known before.  I went to the hospital with one so severe that I wasn't sure I would make it.  I was given oxygen, fluids, and a fancy drug cocktail that helped "enough."  I had an expensive CT scan and an EKG test.  The bill from the hospital visit was pretty darn large.   After that, I continued to struggle and sought help from two primary care doctors, a neurologist, my OBGYN, and even an eye doctor to make sure that wasn't the problem.  I was told by all of them that they would give me birth control if they could, but Factor V prohibits that.  They all hoped I could find a medication to help me until menopause comes.  In August I had 13 days where I need migraine drugs, in September it was 18, in October it was 12, and in November it was 7.  The steroids I took in October seemed to be helping, but none of the preventative medications were working.  I also felt completely stoned and ill while taking them. We tried a few kinds and some vitamin supplements.   A migraine by itself is indescribably awful.  But, that is not all it is.  There is nausea, sometimes more horrible than the head pain.  There are other body aches- for me it was my neck and shoulders.  There is stress, anxiety, depression, and feelings of impatience, agitation, and hopelessness.  I had anxiety attacks and a racing heart for hours at a time.  I was dizzy and felt dehydrated no matter how much water I drank.  And nothing I ate made me feel good.  Oh, and I was in charge of my children all day through this.   After I had blood work in early December (that came back normal) and another major migraine attack on the 12th, I had reached a breaking point.  I had had enough.  I was no longer going to leave things to my doctors.  I did not feel they were looking at the big picture.  One primary care doctor prescribed me an anxiety medication just because I mentioned anxiety.  No one. Was. Listening.   When I felt well enough, I got on the computer and did more research.  For a reason unknown to me, I went through some past medical records and a light bulb flashed that maybe I should look into the MTHFR.   To make a long story short, it is VERY common knowledge in the world that folic acid is poisonous to people with MTHFR.  Not the healthy folate in vegetables, but the synthetic kind that was in my prescription (PRESCRIPTION) and the kind added to processed foods.  I immediately stopped taking that prescription and felt instantly better the next morning.   I'm not even joking.  I still have a long way to go to figure out which foods are best for me and plan to see a naturopathic doctor in Richmond who specializes in MTHFR.  But, I feel good.  I feel better than I have since at least 2015.   You guys, do you understand what I am saying?  A doctor prescribed this medication to me.  NONE of the many doctors I have been seeing ONCE thought that maybe it was the folic acid interacting badly with my MTHFR.  Not one.  Why?  My very helpful friend Amy Powroznik said it is because western medicine does not recognize the problems associated with MTHFR.  That is, of course, true.  But, also..... I don't feel like any of my doctors cared.  Because literally Google MTHFR and you will see in the FIRST article that folic acid is bad.   Part of me is furious.  FURIOUS.  But, I will choose to focus on the fact I feel good.  I have my life back.  I can actually enjoy my family and my life at home.  I can better handle stress.  And, I don't even care about giving up processed foods.  I have "enjoyed" my first Kale smoothies this week and there will be many more to come.  So, please tell me if I have any in my teeth when you see me next!  ;) Friends, almost half of the population has MTHFR.  It can cause a lot of health issues other than migraines- exhaustion, anxiety/depression, heart conditions, altzhiemers, strokes, and chronic illnesses.  But, there are easy fixes to help ward off these things.  Read this article for more info and don't rely on your doctors alone!!   https://universityhealthnews.com/daily/energy/the-mthfr-test-detects-a-genetic-defect-that-may-be-causing-your-fatigue-headaches-depression-and-more/ Sent from my iPhone

[lenaglittleus]

Histamine Intolerance Treatment And The Role Of Single Nucleotide Polymorphisms

Histamine intolerance treatment must go beyond treating just the symptoms!

Histamine is the itchiest molecules in our body!  When histamine is released in the skin, its job is to dilate blood vessels causing redness to the skin, swelling, and of course itching. In the nasal mucosa, it causes a runny nose, sneezing, and that stuffy feeling we just cannot stand during allergy and cold/flu season. 

But what happens if histamine is over released or cannot be cleared out of the system? Typically occurring in women (due to the relationship of estrogen with histamine) this issue can be devastating and life altering.  We are going to go in-depth and discuss an under-diagnosed condition called Histamine Intolerance. This is not an approved medical diagnosis as of yet so it doesn’t have an ICD-10 code nor does this get taught in conventional medical schooling. 

Why could that be? There are many new tests and technologies that have emerged to help identify and treat patients with aims to treat the cause of symptoms rather than matching a drug to turn off a patient’s symptom(s).  Naturopathic and Functional Medicine is quickly becoming the saving grace to people who have these unexplained symptoms or who have been lumped into garbage bucket diagnoses called syndromes such as POTS, MCAS, IBS, Fibromyalgia, and so many more.

Human physiology is a complex interaction of the inherent genetics as expressed by the individual given environmental conditions and cellular aging. To begin understanding the framework in which we will grasp this complex information, we will start with the basics. Now, if you are more advanced in cell biology or physiology, please use this as a friendly review.

Genetics  

Genes are the “sentences” within our DNA that code for proteins.  There are other segments within our DNA that act as spacers, modifiers, and bookends to the plethora of “sentences” in the code; totaling over 23,000 genes.

Depending on the signals to the genes within the nucleus of our cells and mitochondria, certain genes are turned on and off accordingly.  The environment, thoughts, hormones, diet, exercise, infection, etc. are all factors that signal genes to turn on/off. 

Every cell is on a certain cycle of growth, rest, and programmed death called apoptosis (a healthy cell). Turning on and off genes is done by a process called methylation.  This is the movement of a single carbon and 3 hydrogen atoms called a methyl group (CH3) on or off of a gene’s switch. 

Methylation is not solely for gene switching, but for other incredible functions within the body and metabolism.  This modification of gene expression is called Epigenetics.  Epigenetics happens in an individual and can be passed down from grandmothers to their grandchildren. Let’s take a deeper dive into all of these functions.

Methylation

Methylation is the process of transferring a single carbon group to other larger molecules. There are enzymatic pathways that produce intermediate agents such as SAMe, and these in turn provide the necessary cofactors for other enzymes to function. Neurotransmitter, nucleic acid, amino acid, and hormone synthesis as well as lipid breakdown, heavy metal detoxification, and other elimination pathways all need this important process to work properly.

Histamine Intolerance Treatment And Single Nucleotide Polymorphism (SNP’s)

As stated previously, genes are like a sentence, composed of many letters and phrases.  But what happens when a single letter changes in the sentence “The dog dug a hole” to “The dug dug a hole”?

This can create a problem with the function of the final protein.  There are structural changes that are impacted from mutations such as the collagen disease called EDS (Ehlers-Danlos Syndrome), classically characterized by varying degrees of hyper-flexible joints and elastic skin; or the “poster child” of the SNP world called the MTHFR mutation impacting the way in which we use folate (B9) and B12. 

Many mutations can have no impact at all, some very little, and some quite severe in symptomatology. Other mutations in the genetic code that are even more severe cause death of the embryo and the pregnancy will end by the 10th-12th week in miscarriages.

Some mutations can give special advantages to an individual and if that has a natural benefit over another in a given population, that gene is passed on.  Over time in a given population, this will increase in frequency, and we call this evolution.

SNPs are very common so please do not think that you are a mutant, in fact we all are.  However, if an individual is having difficulties with their health that are beyond what classically are taught in medical school, these people often go many years or decades with dysfunction.

Hence there is a need for better education, awareness, and continued research to discover more about SNPs and their function.

Histamine

From the parent amino acid histidine, histamine is a very important signal within the body. In the figure below, you can see It has a function in just about every organ and tissue within the body.

Histamine is broken down by 2 enzymes:

            1. DAO (diamine oxidase)

            2. HNMT (histamine N-methyltransferase) SAMe cofactor dependent

The term histamine intolerance is better understood by a problem with the consumption of and release of excess histamine compounded with the body’s difficulty in regulation and breakdown of this signal.  As mentioned above, there are many different minor causes that can compound synergistically creating a variable level of symptomatology.

CASE STUDY:

A 39-year-old female presents to the clinic with a 30 year history of symptoms including joint laxity, headaches, brain fog, dizziness, and heart palpitations.  She has had many cardiologists, neurologists, rheumatologists, and even psychological counseling to treat the plethora of symptoms and give her diagnoses of the syndromes known as POTS (Postural Orthostatic Tachycardia Syndrome)and MCAS (Mast Cell Activation Syndrome). She was given Botox for her migraines, cardiovascular medications to control her heart rate, and drugs to keep her other histamine symptoms in check.

Upon analysis of her genetic SNPs, numerous genetic polymorphisms were identified impacting her ability to utilize B12, Folate, and B6 thereby decreasing her ultimate production of SAMe.  Furthermore, the COMT enzyme which degrades neurotransmitters was also affected. When COMT is altered, it speeds up the clearance of noradrenaline and adrenaline.

Once identified, strict elimination of certain supplements and foods containing these ingredients was recommended along with the necessary end products of the metabolic cycles to aid in the ultimate delivery of what she had been deficient in for all these years. Her two week follow up was astonishing, as she reported her “lights went on” for the first time. 

Her husband noticed the change within days of initiating the protocol and she had to decrease her cardiovascular drugs because they became too strong.  She is now one-month post treatment start date and holding strong with increased energy, mental alertness, muscle strength, and of course a vitality boost that has given her the confidence and strength to contemplate returning to the work force versus going on permanent disability.

Summary

People who are afflicted with horrible symptoms do not have to be!  There is an underlying cause that needs to be discovered.  If one doctor doesn’t have any idea, keep searching. 

Not all doctors are created equally, and with new research that comes out continuously, the reality of the way things are will get better.  If you have been told you are crazy, lazy, or have a rare syndrome, STOP and seek out a doctor who will listen to you and get to the bottom of it ASAP.

The post Histamine Intolerance Treatment And The Role Of Single Nucleotide Polymorphisms appeared first on Source of Health: Functional And Regenerative Medicine.

from Source Of Health, LLC https://sourceofhealthllc.tumblr.com/post/184560017367

[sourceofhealthllc]

Histamine Intolerance Treatment And The Role Of Single Nucleotide Polymorphisms

Histamine intolerance treatment must go beyond treating just the symptoms!

Histamine is the itchiest molecules in our body!  When histamine is released in the skin, its job is to dilate blood vessels causing redness to the skin, swelling, and of course itching. In the nasal mucosa, it causes a runny nose, sneezing, and that stuffy feeling we just cannot stand during allergy and cold/flu season. 

But what happens if histamine is over released or cannot be cleared out of the system? Typically occurring in women (due to the relationship of estrogen with histamine) this issue can be devastating and life altering.  We are going to go in-depth and discuss an under-diagnosed condition called Histamine Intolerance. This is not an approved medical diagnosis as of yet so it doesn’t have an ICD-10 code nor does this get taught in conventional medical schooling. 

Why could that be? There are many new tests and technologies that have emerged to help identify and treat patients with aims to treat the cause of symptoms rather than matching a drug to turn off a patient’s symptom(s).  Naturopathic and Functional Medicine is quickly becoming the saving grace to people who have these unexplained symptoms or who have been lumped into garbage bucket diagnoses called syndromes such as POTS, MCAS, IBS, Fibromyalgia, and so many more.

Human physiology is a complex interaction of the inherent genetics as expressed by the individual given environmental conditions and cellular aging. To begin understanding the framework in which we will grasp this complex information, we will start with the basics. Now, if you are more advanced in cell biology or physiology, please use this as a friendly review.

Genetics  

Genes are the “sentences” within our DNA that code for proteins.  There are other segments within our DNA that act as spacers, modifiers, and bookends to the plethora of “sentences” in the code; totaling over 23,000 genes.

Depending on the signals to the genes within the nucleus of our cells and mitochondria, certain genes are turned on and off accordingly.  The environment, thoughts, hormones, diet, exercise, infection, etc. are all factors that signal genes to turn on/off. 

Every cell is on a certain cycle of growth, rest, and programmed death called apoptosis (a healthy cell). Turning on and off genes is done by a process called methylation.  This is the movement of a single carbon and 3 hydrogen atoms called a methyl group (CH3) on or off of a gene’s switch. 

Methylation is not solely for gene switching, but for other incredible functions within the body and metabolism.  This modification of gene expression is called Epigenetics.  Epigenetics happens in an individual and can be passed down from grandmothers to their grandchildren. Let’s take a deeper dive into all of these functions.

Methylation

Methylation is the process of transferring a single carbon group to other larger molecules. There are enzymatic pathways that produce intermediate agents such as SAMe, and these in turn provide the necessary cofactors for other enzymes to function. Neurotransmitter, nucleic acid, amino acid, and hormone synthesis as well as lipid breakdown, heavy metal detoxification, and other elimination pathways all need this important process to work properly.

Histamine Intolerance Treatment And Single Nucleotide Polymorphism (SNP’s)

As stated previously, genes are like a sentence, composed of many letters and phrases.  But what happens when a single letter changes in the sentence “The dog dug a hole” to “The dug dug a hole”?

This can create a problem with the function of the final protein.  There are structural changes that are impacted from mutations such as the collagen disease called EDS (Ehlers-Danlos Syndrome), classically characterized by varying degrees of hyper-flexible joints and elastic skin; or the “poster child” of the SNP world called the MTHFR mutation impacting the way in which we use folate (B9) and B12. 

Many mutations can have no impact at all, some very little, and some quite severe in symptomatology. Other mutations in the genetic code that are even more severe cause death of the embryo and the pregnancy will end by the 10th-12th week in miscarriages.

Some mutations can give special advantages to an individual and if that has a natural benefit over another in a given population, that gene is passed on.  Over time in a given population, this will increase in frequency, and we call this evolution.

SNPs are very common so please do not think that you are a mutant, in fact we all are.  However, if an individual is having difficulties with their health that are beyond what classically are taught in medical school, these people often go many years or decades with dysfunction.

Hence there is a need for better education, awareness, and continued research to discover more about SNPs and their function.

Histamine

From the parent amino acid histidine, histamine is a very important signal within the body. In the figure below, you can see It has a function in just about every organ and tissue within the body.

Histamine is broken down by 2 enzymes:

            1. DAO (diamine oxidase)

            2. HNMT (histamine N-methyltransferase) SAMe cofactor dependent

The term histamine intolerance is better understood by a problem with the consumption of and release of excess histamine compounded with the body’s difficulty in regulation and breakdown of this signal.  As mentioned above, there are many different minor causes that can compound synergistically creating a variable level of symptomatology.

CASE STUDY:

A 39-year-old female presents to the clinic with a 30 year history of symptoms including joint laxity, headaches, brain fog, dizziness, and heart palpitations.  She has had many cardiologists, neurologists, rheumatologists, and even psychological counseling to treat the plethora of symptoms and give her diagnoses of the syndromes known as POTS (Postural Orthostatic Tachycardia Syndrome)and MCAS (Mast Cell Activation Syndrome). She was given Botox for her migraines, cardiovascular medications to control her heart rate, and drugs to keep her other histamine symptoms in check.

Upon analysis of her genetic SNPs, numerous genetic polymorphisms were identified impacting her ability to utilize B12, Folate, and B6 thereby decreasing her ultimate production of SAMe.  Furthermore, the COMT enzyme which degrades neurotransmitters was also affected. When COMT is altered, it speeds up the clearance of noradrenaline and adrenaline.

Once identified, strict elimination of certain supplements and foods containing these ingredients was recommended along with the necessary end products of the metabolic cycles to aid in the ultimate delivery of what she had been deficient in for all these years. Her two week follow up was astonishing, as she reported her “lights went on” for the first time. 

Her husband noticed the change within days of initiating the protocol and she had to decrease her cardiovascular drugs because they became too strong.  She is now one-month post treatment start date and holding strong with increased energy, mental alertness, muscle strength, and of course a vitality boost that has given her the confidence and strength to contemplate returning to the work force versus going on permanent disability.

Summary

People who are afflicted with horrible symptoms do not have to be!  There is an underlying cause that needs to be discovered.  If one doctor doesn’t have any idea, keep searching. 

Not all doctors are created equally, and with new research that comes out continuously, the reality of the way things are will get better.  If you have been told you are crazy, lazy, or have a rare syndrome, STOP and seek out a doctor who will listen to you and get to the bottom of it ASAP.

The post Histamine Intolerance Treatment And The Role Of Single Nucleotide Polymorphisms appeared first on Source of Health: Functional And Regenerative Medicine.

[diapersanddumbbells]

I got my ovulation/pregnancy tests in the mail today! There's a lot of excitement within me about trying for another baby, but there's also a part of me that gets nauseous at the thought. I had such HORRIBLE Postpartum anxiety with Avery. It seemed to take me so long to shake it. I still struggle with anxiety some days. There's also the nagging thought... "How will I ever love another child as much as I love Avery?!" She is quite literally the light of my life. I know I want Avery to have a sibling. I want that for my family so so bad. Growing up my parents were divorced. I was my biological mom & dads only child. My bio dad remarried and had my 2 half-sisters, my bio mom remarried and had my half-brother. I love my siblings of course, but I never felt like I had anyone who really understood. None of my siblings ever had to leave their house on Christmas or miss out on fun weekend trips bc they were at their other parents house. The thought of Avery having a sibling with the same mom and dad and the same life 24/7 makes my heart scream with happiness. It's all I've ever wanted for myself, and especially for my children. Anyways, I'm kind of rambling, BUT we are going to try for baby #2! We had a miscarriage October of 2015 (unplanned pregnancy) and I am really really hoping we don't have to go through that again. I may or may not have PCOS, never got a true diagnosis with that. I have confirmed MTHFR mutation which CAN cause fertility issues so we found a doctor in our area who is familiar with our gene and will hopefully know how to help us. My labor and delivery with Avery was very traumatic, I want it to be totally different this time.

[hopingforbabyblog]

Week 10 of Pregnancy: 6th Miscarriage

Week 10 of Pregnancy: 6th Miscarriage

Even without the ultrasound tech saying a word I knew something was wrong. There was no pulsating heartbeat like I saw with the last ultrasound. It was just complete stillness. My doctor and nurse seemed to be feeling the weight of sadness for me, they said they were sorry to see me going through this. I cried a little bit in the bathroom after the ultrasound, but then focused on what needed to…

[howmargielives-blog]

I found this article very interesting. As someone who has experienced multiple miscarriages and recent confirmation of the MTHFR gene mutation, I don’t think I can ignore these findings. I hope someone else out there finds this helpful as well. 

[robertcsaboca]

Top 10 Things to Check Off Your Fertility To-Do List

The moment my mental switch flipped to ‘I want to get pregnant,’ the ticking of my biological clock was so loud I could literally hear it.

At first, you don’t suspect that you or your partner may have a fertility issue, because this kind of stuff happens to others, but not to you, right?

Knowing what I know now after a half a decade of trying to conceive, I wish someone had given me this checklist I’m about to share with you much earlier in the journey.

Instead of waiting for years while trying naturally, and certainly at the very latest after miscarrying, I wish I was more proactive in the beginning. 

I believe that being educated about fertility is empowering and helps with decision-making, even if such decisions are made by elimination. If a test comes back negative, you have more data points and can move forward – and potentially save yourself a lot of time and unnecessary treatments so that you can get closer to getting pregnant with the help that is right for you.

Okay, so here are the top 10 things to check off your fertility to-do list – and they all involve speaking to your fertility doctor (so it’s even more important to listen to your gut when you first meet with them…)

10 Important Questions to Ask Your Fertility Doctor

Alright, you are doing this.You have an appointment in the calendar for your first visit at the fertility clinic. Well done, I bet getting to this point wasn’t easy…This first visit is usually a get-to-know meeting with lots of forms to fill out and medical questions to answer.Don’t let this first visit just be run by the clinic, this is also YOUR time to ask questions and collect as many data points as possible to see if the clinic is a good fit for you.

What types of treatments do you offer?

Most clinics offer standard treatments from ovulation induction, IVF, ICSI, IUI to egg donation. Not all clinics do PGS (genetic embryo testing), natural killer cells testing and treatment or other specialty (and more expensive) treatments. Ask them what their latest addition to their services is- that might give you a clue of how advanced the clinic is, depending if that is important to you or not.

2. What are my chances to get pregnant?

Every clinic has their success rates advertised somewhere, some more aggressively than others. Remember, you are NOT a statistic. Ask the doctor what your personal success rate might look like and what it depends on. Treat this percentage with a lot of caution. Don’t panic, it is just a number. And don’t read too much into it and get your hopes up, again, it is just a number. Every round of IVF is said to have a 5-50% chance of getting you pregnant. That is a wide interval with lots of room for disappointment, unfortunately. Just remember, strong women like you beat the odds all the time.

3. What are the costs and the additional/hidden costs?

The obvious costs are the costs for the specific treatment. But additional costs for medication, regular blood tests, additional scans can easily double that bill and are not included. Ask the doctor or nurses for the maximum costs you could expect going through this…then you won’t be as shocked every time you are being asked to pay for something. The financial toll of infertility can be soul-crushing, but it doesn’t have to be if you manage your expectations from the beginning and are prepared for what is to come.

4. Who do I contact for everyday questions?

The bigger the clinic, the more likely you will be in touch with the nurses and not the doctor. Get their email addresses, phone numbers, after-hours emergency numbers (if your clinic offers this, not all do) so that you know who to contact with medication, timing, and symptom questions throughout your cycle. Believe me, those unexpected questions will pop up on a Sunday morning and you’ll be happy there is someone you can call or email.

5. Which additional tests are necessary right now?

Usually your clinic will want to do all baseline hormone tests (TSH, Vitamin D, progesterone on day 21, sperm analysis) themselves, but if you do have lab results from previous clinics, definitely bring them along as you could save yourself some money.

Some fertility tests are standard, while others become relevant only after you’ve had failed treatment cycles or miscarriages. To counter that, it is definitely worth discussing the following 5 fertility tests with your fertility doctor sooner rather than later:

6. AMH – anti-Mullerian hormone blood levels reflect the size of the remaining egg supply – or “ovarian reserve”. A low AMH, often in conjunction with age or genetic disposition, can indicate fewer remaining follicles. A high AMH over 4ng/ml can be a sign of polycystic ovary syndrome. Anything between 1 ng/ml and 3 ng/ml is considered ‘normal’.

7. TSH – the thyroid-stimulating hormone shows if you have an overactive or underactive thyroid, which can have a significant impact on your menstrual cycle and, as a result, on your ovulation, fertilization, and implantation.

8. NKC – natural killer cells, which protect your uterus from infections and cancer. If there is higher than normal activity, these cells can prevent implantation and lead to recurring miscarriages.

9. MTHFR – sounds like an abbreviation for a curse word but stands for methylene-tetrahydrofolate reductase and is the ability to convert food into folate in the body. Women with a positive MTHFR gene mutation may have an increased risk of inability to conceive, miscarriages, and pre-eclampsia (high blood pressure during pregnancy). Always make sure your prenatal vitamin includes methyl folate.

10. DNA fragmentation – going beyond a conventional semen analysis of motility and concentration, this test looks at sperm at the molecular level. Higher fragmentation levels lead to higher male sub-fertility, miscarriage, and lower chances of conceiving naturally or with IVF.

Conclusion: Regardless of whether you just started or already have been trying for a while, these 10 things should be considered sooner rather than later as you embark on the next part of your fertility journey. Knowing that you are with the right clinic and having done the right tests for you will give you so much peace of mind along this journey.

P.S.  Click here to get your free PDF guide “3 Research-Backed Ways to Boost Your Fertility Today”

Like this post? Signup to our newsletter to get news straight to your inbox.

source https://fertilityroad.com/top-10-things-to-check-off-your-fertility-to-do-list/ source https://fertilityroad1.blogspot.com/2020/09/top-10-things-to-check-off-your.html

[mirianadubois90]

Top 10 Things to Check Off Your Fertility To-Do List

The moment my mental switch flipped to ‘I want to get pregnant,’ the ticking of my biological clock was so loud I could literally hear it.

At first, you don’t suspect that you or your partner may have a fertility issue, because this kind of stuff happens to others, but not to you, right?

Knowing what I know now after a half a decade of trying to conceive, I wish someone had given me this checklist I’m about to share with you much earlier in the journey.

Instead of waiting for years while trying naturally, and certainly at the very latest after miscarrying, I wish I was more proactive in the beginning. 

I believe that being educated about fertility is empowering and helps with decision-making, even if such decisions are made by elimination. If a test comes back negative, you have more data points and can move forward – and potentially save yourself a lot of time and unnecessary treatments so that you can get closer to getting pregnant with the help that is right for you.

Okay, so here are the top 10 things to check off your fertility to-do list – and they all involve speaking to your fertility doctor (so it’s even more important to listen to your gut when you first meet with them…)

10 Important Questions to Ask Your Fertility Doctor

Alright, you are doing this.You have an appointment in the calendar for your first visit at the fertility clinic. Well done, I bet getting to this point wasn’t easy…This first visit is usually a get-to-know meeting with lots of forms to fill out and medical questions to answer.Don’t let this first visit just be run by the clinic, this is also YOUR time to ask questions and collect as many data points as possible to see if the clinic is a good fit for you.

What types of treatments do you offer?

Most clinics offer standard treatments from ovulation induction, IVF, ICSI, IUI to egg donation. Not all clinics do PGS (genetic embryo testing), natural killer cells testing and treatment or other specialty (and more expensive) treatments. Ask them what their latest addition to their services is- that might give you a clue of how advanced the clinic is, depending if that is important to you or not.

2. What are my chances to get pregnant?

Every clinic has their success rates advertised somewhere, some more aggressively than others. Remember, you are NOT a statistic. Ask the doctor what your personal success rate might look like and what it depends on. Treat this percentage with a lot of caution. Don’t panic, it is just a number. And don’t read too much into it and get your hopes up, again, it is just a number. Every round of IVF is said to have a 5-50% chance of getting you pregnant. That is a wide interval with lots of room for disappointment, unfortunately. Just remember, strong women like you beat the odds all the time.

3. What are the costs and the additional/hidden costs?

The obvious costs are the costs for the specific treatment. But additional costs for medication, regular blood tests, additional scans can easily double that bill and are not included. Ask the doctor or nurses for the maximum costs you could expect going through this…then you won’t be as shocked every time you are being asked to pay for something. The financial toll of infertility can be soul-crushing, but it doesn’t have to be if you manage your expectations from the beginning and are prepared for what is to come.

4. Who do I contact for everyday questions?

The bigger the clinic, the more likely you will be in touch with the nurses and not the doctor. Get their email addresses, phone numbers, after-hours emergency numbers (if your clinic offers this, not all do) so that you know who to contact with medication, timing, and symptom questions throughout your cycle. Believe me, those unexpected questions will pop up on a Sunday morning and you’ll be happy there is someone you can call or email.

5. Which additional tests are necessary right now?

Usually your clinic will want to do all baseline hormone tests (TSH, Vitamin D, progesterone on day 21, sperm analysis) themselves, but if you do have lab results from previous clinics, definitely bring them along as you could save yourself some money.

Some fertility tests are standard, while others become relevant only after you’ve had failed treatment cycles or miscarriages. To counter that, it is definitely worth discussing the following 5 fertility tests with your fertility doctor sooner rather than later:

6. AMH – anti-Mullerian hormone blood levels reflect the size of the remaining egg supply – or “ovarian reserve”. A low AMH, often in conjunction with age or genetic disposition, can indicate fewer remaining follicles. A high AMH over 4ng/ml can be a sign of polycystic ovary syndrome. Anything between 1 ng/ml and 3 ng/ml is considered ‘normal’.

7. TSH – the thyroid-stimulating hormone shows if you have an overactive or underactive thyroid, which can have a significant impact on your menstrual cycle and, as a result, on your ovulation, fertilization, and implantation.

8. NKC – natural killer cells, which protect your uterus from infections and cancer. If there is higher than normal activity, these cells can prevent implantation and lead to recurring miscarriages.

9. MTHFR – sounds like an abbreviation for a curse word but stands for methylene-tetrahydrofolate reductase and is the ability to convert food into folate in the body. Women with a positive MTHFR gene mutation may have an increased risk of inability to conceive, miscarriages, and pre-eclampsia (high blood pressure during pregnancy). Always make sure your prenatal vitamin includes methyl folate.

10. DNA fragmentation – going beyond a conventional semen analysis of motility and concentration, this test looks at sperm at the molecular level. Higher fragmentation levels lead to higher male sub-fertility, miscarriage, and lower chances of conceiving naturally or with IVF.

Conclusion: Regardless of whether you just started or already have been trying for a while, these 10 things should be considered sooner rather than later as you embark on the next part of your fertility journey. Knowing that you are with the right clinic and having done the right tests for you will give you so much peace of mind along this journey.

P.S.  Click here to get your free PDF guide “3 Research-Backed Ways to Boost Your Fertility Today”

Like this post? Signup to our newsletter to get news straight to your inbox.

source https://fertilityroad.com/top-10-things-to-check-off-your-fertility-to-do-list/ source https://fertilityroad1.tumblr.com/post/628785085003464704

[danielawilson80]

Top 10 Things to Check Off Your Fertility To-Do List

The moment my mental switch flipped to ‘I want to get pregnant,’ the ticking of my biological clock was so loud I could literally hear it.

At first, you don’t suspect that you or your partner may have a fertility issue, because this kind of stuff happens to others, but not to you, right?

Knowing what I know now after a half a decade of trying to conceive, I wish someone had given me this checklist I’m about to share with you much earlier in the journey.

Instead of waiting for years while trying naturally, and certainly at the very latest after miscarrying, I wish I was more proactive in the beginning. 

I believe that being educated about fertility is empowering and helps with decision-making, even if such decisions are made by elimination. If a test comes back negative, you have more data points and can move forward – and potentially save yourself a lot of time and unnecessary treatments so that you can get closer to getting pregnant with the help that is right for you.

Okay, so here are the top 10 things to check off your fertility to-do list – and they all involve speaking to your fertility doctor (so it’s even more important to listen to your gut when you first meet with them…)

10 Important Questions to Ask Your Fertility Doctor

Alright, you are doing this.You have an appointment in the calendar for your first visit at the fertility clinic. Well done, I bet getting to this point wasn’t easy…This first visit is usually a get-to-know meeting with lots of forms to fill out and medical questions to answer.Don’t let this first visit just be run by the clinic, this is also YOUR time to ask questions and collect as many data points as possible to see if the clinic is a good fit for you.

What types of treatments do you offer?

Most clinics offer standard treatments from ovulation induction, IVF, ICSI, IUI to egg donation. Not all clinics do PGS (genetic embryo testing), natural killer cells testing and treatment or other specialty (and more expensive) treatments. Ask them what their latest addition to their services is- that might give you a clue of how advanced the clinic is, depending if that is important to you or not.

2. What are my chances to get pregnant?

Every clinic has their success rates advertised somewhere, some more aggressively than others. Remember, you are NOT a statistic. Ask the doctor what your personal success rate might look like and what it depends on. Treat this percentage with a lot of caution. Don’t panic, it is just a number. And don’t read too much into it and get your hopes up, again, it is just a number. Every round of IVF is said to have a 5-50% chance of getting you pregnant. That is a wide interval with lots of room for disappointment, unfortunately. Just remember, strong women like you beat the odds all the time.

3. What are the costs and the additional/hidden costs?

The obvious costs are the costs for the specific treatment. But additional costs for medication, regular blood tests, additional scans can easily double that bill and are not included. Ask the doctor or nurses for the maximum costs you could expect going through this…then you won’t be as shocked every time you are being asked to pay for something. The financial toll of infertility can be soul-crushing, but it doesn’t have to be if you manage your expectations from the beginning and are prepared for what is to come.

4. Who do I contact for everyday questions?

The bigger the clinic, the more likely you will be in touch with the nurses and not the doctor. Get their email addresses, phone numbers, after-hours emergency numbers (if your clinic offers this, not all do) so that you know who to contact with medication, timing, and symptom questions throughout your cycle. Believe me, those unexpected questions will pop up on a Sunday morning and you’ll be happy there is someone you can call or email.

5. Which additional tests are necessary right now?

Usually your clinic will want to do all baseline hormone tests (TSH, Vitamin D, progesterone on day 21, sperm analysis) themselves, but if you do have lab results from previous clinics, definitely bring them along as you could save yourself some money.

Some fertility tests are standard, while others become relevant only after you’ve had failed treatment cycles or miscarriages. To counter that, it is definitely worth discussing the following 5 fertility tests with your fertility doctor sooner rather than later:

6. AMH – anti-Mullerian hormone blood levels reflect the size of the remaining egg supply – or “ovarian reserve”. A low AMH, often in conjunction with age or genetic disposition, can indicate fewer remaining follicles. A high AMH over 4ng/ml can be a sign of polycystic ovary syndrome. Anything between 1 ng/ml and 3 ng/ml is considered ‘normal’.

7. TSH – the thyroid-stimulating hormone shows if you have an overactive or underactive thyroid, which can have a significant impact on your menstrual cycle and, as a result, on your ovulation, fertilization, and implantation.

8. NKC – natural killer cells, which protect your uterus from infections and cancer. If there is higher than normal activity, these cells can prevent implantation and lead to recurring miscarriages.

9. MTHFR – sounds like an abbreviation for a curse word but stands for methylene-tetrahydrofolate reductase and is the ability to convert food into folate in the body. Women with a positive MTHFR gene mutation may have an increased risk of inability to conceive, miscarriages, and pre-eclampsia (high blood pressure during pregnancy). Always make sure your prenatal vitamin includes methyl folate.

10. DNA fragmentation – going beyond a conventional semen analysis of motility and concentration, this test looks at sperm at the molecular level. Higher fragmentation levels lead to higher male sub-fertility, miscarriage, and lower chances of conceiving naturally or with IVF.

Conclusion: Regardless of whether you just started or already have been trying for a while, these 10 things should be considered sooner rather than later as you embark on the next part of your fertility journey. Knowing that you are with the right clinic and having done the right tests for you will give you so much peace of mind along this journey.

P.S.  Click here to get your free PDF guide “3 Research-Backed Ways to Boost Your Fertility Today”

Like this post? Signup to our newsletter to get news straight to your inbox.

Via https://fertilityroad.com/top-10-things-to-check-off-your-fertility-to-do-list/

source https://fertilityroad.weebly.com/blog/top-10-things-to-check-off-your-fertility-to-do-list

[fertilityroad1]

Top 10 Things to Check Off Your Fertility To-Do List

The moment my mental switch flipped to ‘I want to get pregnant,’ the ticking of my biological clock was so loud I could literally hear it.

At first, you don’t suspect that you or your partner may have a fertility issue, because this kind of stuff happens to others, but not to you, right?

Knowing what I know now after a half a decade of trying to conceive, I wish someone had given me this checklist I’m about to share with you much earlier in the journey.

Instead of waiting for years while trying naturally, and certainly at the very latest after miscarrying, I wish I was more proactive in the beginning. 

I believe that being educated about fertility is empowering and helps with decision-making, even if such decisions are made by elimination. If a test comes back negative, you have more data points and can move forward – and potentially save yourself a lot of time and unnecessary treatments so that you can get closer to getting pregnant with the help that is right for you.

Okay, so here are the top 10 things to check off your fertility to-do list – and they all involve speaking to your fertility doctor (so it’s even more important to listen to your gut when you first meet with them…)

10 Important Questions to Ask Your Fertility Doctor

Alright, you are doing this.You have an appointment in the calendar for your first visit at the fertility clinic. Well done, I bet getting to this point wasn’t easy…This first visit is usually a get-to-know meeting with lots of forms to fill out and medical questions to answer.Don’t let this first visit just be run by the clinic, this is also YOUR time to ask questions and collect as many data points as possible to see if the clinic is a good fit for you.

What types of treatments do you offer?

Most clinics offer standard treatments from ovulation induction, IVF, ICSI, IUI to egg donation. Not all clinics do PGS (genetic embryo testing), natural killer cells testing and treatment or other specialty (and more expensive) treatments. Ask them what their latest addition to their services is- that might give you a clue of how advanced the clinic is, depending if that is important to you or not.

2. What are my chances to get pregnant?

Every clinic has their success rates advertised somewhere, some more aggressively than others. Remember, you are NOT a statistic. Ask the doctor what your personal success rate might look like and what it depends on. Treat this percentage with a lot of caution. Don’t panic, it is just a number. And don’t read too much into it and get your hopes up, again, it is just a number. Every round of IVF is said to have a 5-50% chance of getting you pregnant. That is a wide interval with lots of room for disappointment, unfortunately. Just remember, strong women like you beat the odds all the time.

3. What are the costs and the additional/hidden costs?

The obvious costs are the costs for the specific treatment. But additional costs for medication, regular blood tests, additional scans can easily double that bill and are not included. Ask the doctor or nurses for the maximum costs you could expect going through this…then you won’t be as shocked every time you are being asked to pay for something. The financial toll of infertility can be soul-crushing, but it doesn’t have to be if you manage your expectations from the beginning and are prepared for what is to come.

4. Who do I contact for everyday questions?

The bigger the clinic, the more likely you will be in touch with the nurses and not the doctor. Get their email addresses, phone numbers, after-hours emergency numbers (if your clinic offers this, not all do) so that you know who to contact with medication, timing, and symptom questions throughout your cycle. Believe me, those unexpected questions will pop up on a Sunday morning and you’ll be happy there is someone you can call or email.

5. Which additional tests are necessary right now?

Usually your clinic will want to do all baseline hormone tests (TSH, Vitamin D, progesterone on day 21, sperm analysis) themselves, but if you do have lab results from previous clinics, definitely bring them along as you could save yourself some money.

Some fertility tests are standard, while others become relevant only after you’ve had failed treatment cycles or miscarriages. To counter that, it is definitely worth discussing the following 5 fertility tests with your fertility doctor sooner rather than later:

6. AMH – anti-Mullerian hormone blood levels reflect the size of the remaining egg supply – or “ovarian reserve”. A low AMH, often in conjunction with age or genetic disposition, can indicate fewer remaining follicles. A high AMH over 4ng/ml can be a sign of polycystic ovary syndrome. Anything between 1 ng/ml and 3 ng/ml is considered ‘normal’.

7. TSH – the thyroid-stimulating hormone shows if you have an overactive or underactive thyroid, which can have a significant impact on your menstrual cycle and, as a result, on your ovulation, fertilization, and implantation.

8. NKC – natural killer cells, which protect your uterus from infections and cancer. If there is higher than normal activity, these cells can prevent implantation and lead to recurring miscarriages.

9. MTHFR – sounds like an abbreviation for a curse word but stands for methylene-tetrahydrofolate reductase and is the ability to convert food into folate in the body. Women with a positive MTHFR gene mutation may have an increased risk of inability to conceive, miscarriages, and pre-eclampsia (high blood pressure during pregnancy). Always make sure your prenatal vitamin includes methyl folate.

10. DNA fragmentation – going beyond a conventional semen analysis of motility and concentration, this test looks at sperm at the molecular level. Higher fragmentation levels lead to higher male sub-fertility, miscarriage, and lower chances of conceiving naturally or with IVF.

Conclusion: Regardless of whether you just started or already have been trying for a while, these 10 things should be considered sooner rather than later as you embark on the next part of your fertility journey. Knowing that you are with the right clinic and having done the right tests for you will give you so much peace of mind along this journey.

P.S.  Click here to get your free PDF guide “3 Research-Backed Ways to Boost Your Fertility Today”

Like this post? Signup to our newsletter to get news straight to your inbox.

source https://fertilityroad.com/top-10-things-to-check-off-your-fertility-to-do-list/

[knoxxvgz908-blog]

Contributing Organs of Anencephalic Babies Is Backed

Anencephaly is a kind of birth defect which leads to missing out on skull or brain tissue in the newborn. It is virtually always deadly with infant death happening quickly before or after shipment.

Upon additional evaluation, scientists discovered the wild kind MacMARCKS healthy protein in the area of neural tube closure, concluding that MacMARCKS plays an essential function in the correct closure of the neural tube. There are numerous hereditary and also ecological elements that create anencephaly, consisting of folic acid shortage, genetic mutations, as well as chemical direct exposure.

No mass was seen attached or occurring from the back. Fetal lengthy bones were normal (Fig. 4). In most cases, some brain tissue might be exposed since components of the head are missing. Some infants might have a primitive mind stem at birth.

Unusual and also genetic Illness Details Center (1 link).

Although infant mortality varied significantly by racial/ethnic team, the rate of baby death as a result of abnormality was less variable. Infant death prices because of abnormality were highest amongst American Indians (2.9/ 1,000 live births), followed by Asians and Hispanics (2.6) as well as blacks (2.5 ). In comparison, white infant mortality as a result of abnormality was 2.3/ 1,000 live births. Birth defects that added most to infant mortality, organized by organ system, are displayed in Table 3. Regardless of the racial/ethnic team, cardiovascular-system problems were the most commonly tape-recorded issues on the fatality certification.

These medications can cause a pattern of birth defects, which can include anophthalmia or microphthalmia. These flaws might also be triggered by a combination of genetics and various other aspects, such as the important things the mommy comes in contact with in the setting or what the mom consumes or drinks, or specific medicines she utilizes during pregnancy. Anophthalmia and also microphthalmia establish while pregnant as well as can occur alone, with other abnormality, or as component of a disorder. Anophthalmia and microphthalmia often cause loss of sight or restricted vision.

What causes anencephaly in a child?

Birth defects were defined as conditions coded from 740.0 to 759.9 of the ICD-9.

Ever since, neural tube problems like anencephaly as well as spina bifida declined by 27 percent.

For the clinician, dispute with regard to making use of in utero fetal surgical treatment to repair these defects need to be fixed by the NIH funded randomized medical test in the following couple of years.

Gestational age 30 weeks.

Roughly 6-- 16% of isolated showing up NTDs are connected with aneuploidy, these are frequently trisomies, chromosomal as well as triploidy deletions.46, 47, 48 Knowledge of the etiology of the sore greatly impacts recurrence rates for a family members. A fetus with a trisomy will yield a 1% reoccurrence danger for future conceptions.

Can anencephalic babies feel pain?

How can anencephaly be prevented? Proper nutrition: Eating nutritious foods and taking a vitamin supplement before and during pregnancy may help prevent neural tube birth defects. Getting enough folic acid is very important.

They identified every situation by the multi-site closure version, lending support to this concept of localized mobile interruption. They might consequently estimate the frequency of each website of closure failure; not all sites were impacted with comparable regularity. Moms and dads that have had a youngster with anencephaly are at a boosted risk to have one more impacted kid (compared with the danger in the general populace). [3] Due to the fact that many situations are believed to be multifactorial (as a result of interaction of genetic and also environmental variables), the recurrence danger is estimated to be in between 2% as well as 5% after a single instance. [5] If anencephaly is understood to be related to an underlying problem, the reoccurrence danger Click for info might depend upon that of the hidden disorder. Variants in several genetics might affect the threat of developing anencephaly. The best-studied gene thus far is the MTHFR gene, which offers the body guidelines to make a healthy protein made use of to process the vitamin folate (likewise called vitamin B9).

Meroanencephaly.

A shortage of folate is a known danger factor for NTDs. Various other genetics involved in folate processing, and also the advancement of the neural tube, might additionally affect the danger. There is no well-known remedy or common treatment for anencephaly. Mostly all babies born with anencephaly will pass away soon after birth. In recent years, courts have actually claimed that anencephalic infants fall under the purview of the Americans With Disabilities Act, deserving all the medical care that society can offer.