Extra Chromosome & Absent Enzyme; A look at Down Syndrome and MTHFR

Down Syndrome is a genetic mutation identified by an extra 21st chromosome. MTHFR is a genetic mutation identified by the absence of a vital enzyme essential for folate metabolism. There is an intimate connection between these 2 conditions, and by identifying MTHFR in children with Down Syndrome risks for many co-morbid conditions can be reduced or eliminated.
Contributing Factors
Environmental and Maternal Disposition. There has been recent research showing there is a higher incidence of children with Down syndrome born to mothers that are positive for MTHFR. Multiple polymorphisms were identified in this study which simply correlates the association. Practically speaking MTHFR mutations are seen in elevated levels in autism, spina bifida, fetal cardiac defects and Down syndrome. However, to solely implicate genetics in any medical condition is bad medicine. The environment plays such a large role in influencing our genes. Because of the role that MTHFR plays in folate metabolism and Homocysteine metabolism this association bears regard and acknowledgement.
It has been well researched that Children with Down Syndrome have higher incidences of:
Midline Development Issues
Heart defects. Almost one-half of babies with Down syndrome have congenital heart disease, the most common type of birth defect. MTHFR mutations are associated with a higher incidence of Heart Defects. MTHFR effects “midline development” the heart is an organ that develops form the midline in utero.
Hypothyroidism. Occurs more often in children with Down syndrome than in children without Down syndrome. Close evaluation of thyroid health, diet, supplements and possibly medication can assist in balancing this condition. Again, the thyroid is developed from the “midline” embryonic tissue. The same layer that is effected by the presence of MTHFR mutations. Research shows us children with Down syndrome are born to mothers with MTHFR mutations themselves. Genetics, and an extra chromosome leads to a much higher incidence of hypothyroidism.
Dental problems. Children with Down syndrome generally have a higher palate. This changes the landscape of the mouth and jaw and can cause teeth and speech development that differs from what is expected. Gum disease, is also very common. Gum Disease is well studied as a problem with digestion, bacteria imbalance and nutrient deficiency. MTHFR mutations are closely correlated with dental problems. Again, the gums and teeth develop from the “midline” during pregnancy. MTHFR mutations cause an “inefficiency” of folate metabolism. When this system is impaired the body uses additional vitamins and minerals (stored in the teeth and bones) to properly run its cycles. If nutrient levels are lower that the body’s demand the teeth and gums will suffer.
Sense Organs Issues
Vision problems. More than 60% of children with Down syndrome have vision problems. MTHFR defects can affect the eye. The vessels of the eye are so small that any kind of inflammation or excessive toxicity can “get stuck” in the small vessels of the eye and effect vision.
Hearing loss. About 75% of children with Down syndrome have some hearing loss, sometimes because of problems with ear structures. Children with Down syndrome also tend to get a lot of ear infections, due to narrow canals and anatomic variation which should be watched closely. MTHFR is more highly associated with sensory issues associated with hearing impairments.

Immunity and Blood Issue>s
Infections. Kids with Down syndrome are 12 times more likely to die from untreated and unmonitored infections compared to kids without Down syndrome. The Immune system develops differently in kids with Down Syndrome, which can cause problem with immunity. This poses challenges with children and the current immunization schedule. In children with impaired immunity, vaccines can cause unanticipated reactions, which can lead to further health concerns. MTHFR and its ability to metabolize folate plays an intimate role in the immune system. These mutations can cause reduced immune function, bone marrow suppression and the inability to produce proper components of the immune system.
Blood disorders. Are common in children with Down syndrome. There is a 10 to 15 higher incidence of developing leukemia. Kids with Down Syndrome are at higher risk for a diagnosis of anemias of all kinds (low iron, low B12, high red blood cells, etc.). MTHFR is the enzyme that controls folate (B9) metabolism, however proper signaling of methylation, the pathway signaled by the MTHFR enzyme also requires proper interface with B!2 and B6, without these other B vitamins the pathway operates ineffectively and can further problems with anemias of all kinds.
Structural Issues
Hypotonia (poor muscle tone). Poor muscle tone and low strength is a common contributor to “delayed” milestones in Children with Down Syndrome. Low Tone can also effect nursing, swallowing, speech development, constipation and coordination.

Many of these problems can be addressed with skilled providers educated in the specificity of Down Syndrome Concerns. MTHFR pathways assist to eliminate toxins in the body. The benefit of an efficient elimination system means the body reduces its exposure to toxins and therefore reduces its potential for disease. Keeping MTHFR in good working order helps the body better balance muscle and strength development as well as reduce the problems associated with low tone.
Atlantoaxial Instability. Is present in 20% of children with Down syndrome. This is associated with an increased incidence of spinal cord injury and should be evaluated by a skilled provider for the best course of treatment. MTHFR is not associated with Atlantoaxial instability, however it is well reported that individuals with MTHFR have a higher incidence of damage to ligaments and tendons when ingesting “floxin” antibiotics. This should be thoroughly researched by any provider prescribing antibiotics to children with Down syndrome.
Digestion Absorption and Elimination
Digestive problems. Digestive problems in kids with Down syndrome, range from structural defects in the digestive system, food sensitivity or food allergy, and food aversions or addictions. Due to the metabolic and genetic components with Down syndrome very specific diets can be recommended and useful for a lifetime of healthy digestion, assimilation and weight balance. The research shows that approximately 80% of individuals with MTHFR have food allergy or food sensitivity. Remember that individuals with MTHFR have a harder time with detoxification where as individuals with Down syndrome have an impaired immune system.
Celiac disease. Is very common with Down syndrome. Celiac is an immune and gastrointestinal inability to digest the protein found in wheat and other grains containing gluten. Gluten should be completely avoided throughout a lifetime, this can be of benefit for a host of conditions that are associated and co-diagnosed along with Down syndrome. Individuals diagnoses with MTHFR have a 60% incidence of having Celiac disease as well. This is an important screening for all kids with any sort of immune dysregulation. Kids with Down syndrome can be susceptible earlier and with more severe symptoms.
Mental & Emotional
Mental health and emotional problems. There is a very high incidence of anxiety, depression, perseveration, and Attention Deficit Hyperactivity Disorder associated with Down syndrome. Individuals with MTHFR have higher incidence of anxiety, and depression. In some cases, the proper balance of specific B vitamins can improve symptoms in a very short timeframe avoiding medication and its problematic side effects.
Sleep disorders. Many children with Down syndrome have disordered sleep. This can be due in part to obstructive sleep apnea, narrow structures in the head and neck, food sensitivities or side effects of medication. MTHFR mutations can certainly cause issues with sleep. When folate metabolism is impaired a dysregulation in the body occurs. Also, effecting sleep can be B12 levels which can cause bedwetting, anxiety and restlessness

In conclusion Down syndrome and MTHFR are closely related and treating and supporting proper functioning of the MTHFR enzyme can dramatically improve outcomes or assist to avoid complications kids with Down syndrome may occur in their lifetime.
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1. Bull, M. J., & the Committee on Genetics. (2011). Health supervision for children with Down syndrome. Pediatrics, 128, 393–406. [top]
2. So, S. A., Urbano, R. C., & Hodapp, R. M. (2007) Hospitalizations of infants and young children with Down syndrome: Evidence from inpatient person-records from a statewide administrative database. Journal of Intelle
3. Hardy, O., Worley, G., Lee, M. M., Chaing, S., Mackey, J., Crissman, B., et al. (2004). Hypothyroidism in Down syndrome: screening guidelines and testing methodology. American Journal of Medical Gen
4. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3078648/pdf/nihms-259545.pdf
5. http://www.sciencedirect.com/science/article/pii/S1110863015000889
6. https://www.ncbi.nlm.nih.gov/pubmed/11807890
7. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3168164/
8. http://ajcn.nutrition.org/content/70/4/429.long

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Warrior or Worrier? The truth about COMT

Warrior or Worrier? The truth about COMT

 

Catechol-O-methyltransferase (COMT) is one of several enzymes that degrade catecholamines such as dopamine, epinephrine, and norepinephrine. In humans, catechol-O-methyltransferase protein is encoded by the COMT gene. COMT is mostly found in the peripheral nervous system, and less significantly found in the Central Nervous System, and found in the highest concentration in the liver.

 

There are 2 types of COMT expression, the warrior and the worrier.

 

Warrior

Generally have a higher IQ

do better on tests

better toxin elimination

higher estrogen elimination

higher incidence of ADHD

Higher pain tolerance

Normal magnesium levels

Normalized B12 and folate levels

Even tempered

Worrier

Slower estrogen elimination and estrogen dominance
Lower pain tolerance

Increased probability of addiction and anorexia

PMS worse in females

Enhanced response to stimulants

Red face after exercise & Decreased Sweating

Lower Mg levels

Lower Intracellular b12 and folate

Prone to mood swings and mania

 

 

 

 

 

 

 

COMT is the enzyme that allows you to spare the “feel good hormones” dopamine and nor-epinephrine. If this enzyme is completely blocked mood swings and addiction can occur. Keeping the gut healthy with probiotics and a good diet assures proper conversion of the amino acids needed to manufacture quality neurotransmitters. Lots of antibiotics and processed food can impair digestion and create impairments in conversion and manufacturing.

One of the most important jobs that COMT has, is to degrade dopamine, in the brain, where it is broken down by MAO (monoamine oxidase). MAO is Another important snp/gene that encodes an enzyme partially responsible for the metabolism of several neurotransmitters such as dopamine and serotonin. The monoamine oxidase family of enzymes, metabolize monoamines (neurotransmitters and neuromodulators consisting of a single amine).

COMT is the enzyme that introduces a methyl group to the catecholamine, which is donated by S-adenosyl methionine (SAM). Any compound having a catechol structure, like catecholestrogens and catechol-containing flavonoids, are substrates of COMT. This is why individuals with a COMT mutation are considered estrogen sensitive and estrogen dominant.

By discussing and understanding the biochemistry and intricacies of the COMT enzyme we can begin to see the problems with it when individuals have missing or reduced functioning.

COMT mutations cause great difficulty with detoxing. COMT pathways toss out good and bad minerals indiscriminately leaving low level magnesium (among others), an essential mineral to uptake b12 properly.  B12 levels can be supplemented with success using lithium orotate, please check with a provider about dosing. Supplementing with lithium to enhance transport may in fact cause a b12 deficiency if its not done properly.

Individuals with a COMT mutation are generally volatile susceptible to depression, mood disorders and issues with toxicity.  This means be mindful of your stress and moods and put some supports in place during times of physical and emotional stress. Addiction is common with individuals carrying this SNP too, I highly recommend early and often discussions around drugs, alcohol and other addictive substances or behaviors.

 

COMT mutations can make people sensitive to phenols. Phenols are found in purple and red foods, such as strawberries and red grapes, these slow the function of the enzyme further. When the COMT enzyme slows there can be mood swings, insomnia or anxiety. Symptoms of people with phenol sensitivities are heat intolerant suffer from headaches and insomnia.

 

In a nutshell, individuals with COMT mutations require individualized, targeted treatment and should be addressed on all facets of wellness!

 

 

 

 

 

 

 

 

 

 

 

Antibiotics and The Gut…again.

In society today antibiotics are overly prescribed. Most patients receive the advice to “take all medication as prescribed” however, in some cases that not be the case. It is ALWAYS imperative to discuss with the prescriber when changing a treatment plan but there may be more occasions than not, to discontinue antibiotics before the “last pill was taken”.

The failure of the medical community to appropriately utilize antibiotics in the 20th century has left us with many antibiotic resistant microbes plaguing patients at younger and younger ages.  Many prescribers prescribe to a “quick fix medicine” and in many cases abused and misused antibiotics in the name of “protocol”.  Of course this comes back to the fundamental disconnect between pharma and health. So it is imperative patients and parents advocate for themselves in these sorts of situations.

Antibiotics, like food are broken down and digested by the body. Long term or frequent use of antibiotics alter the proper digestive bacteria in the gut and reduce the digestion and assimilation of these pharmaceuticals. This means that active and Un-Metabolized antibiotic by-products, which retain antimicrobial activity, will be excreted into the environment compounding our issues with antibiotic resistance.  Even though an antibiotic is prescribed an for 7 days, does not mean that “bad bacteria” are only exposed to it for 7 days; normal gut flora (and potentially the pathogen) will continue to be exposed to the antibiotic and it’s by- products for some time after completion of therapy. The US contributes more than 17,000 tons of antibiotics into the environment every year in the United States alone (80% for agriculture, 20% for human use).

Compounding this issue is the antibiotics found in our food. This too builds resistance to microbes and accelerates the problems with prescribing. Be a savvy consumer and choose with your dollars. Buy local, organic and avoid processed or packaged products. Ultimately your gut and the rest of your body will thank you for it.

There is a time and place for all things medical, however the research over and over has shown that antibiotics as a first line of treatment may not be as effective or useful as previously revealed. Any and all pharmaceuticals will disrupt normal function of the gut, temporarily or permanently. Be sure to utilize them wisely and replete the gut with beneficial probiotics after use, discuss with your provider the shortest most optimal course of action for your condition and your lifestyle.

For more information and healthy recipes to heal the gut check out my book

 

 

http://www.medscape.com/viewarticle/871856?src=WNL_infoc_161120_MSCPEDIT_TEMP2&uac=127670EJ&impID=1238355&faf=1

http://dhs.unr.edu/Documents/dhs/chs/NVPHTC/The%20New%20Antibiotic%20Mantra%E2%80%94%E2%80%9CShorter%20Is%20Better%E2%80%9D.pdf

Stay on track with your healing diet during the Holidays!!

 

The holidays can be a stressful time, both financial and emotional. Added to that is your new regimen of a healing diet to improve your lifelong health. Remember there gazillion foods that don’t contain any of your triggers! Focus on those and remember keeping with your healing diet will be worth it in the end.

Here is a list of pitfalls to avoid!

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  • Plain turkey is gluten free! Be sure it has not been seasoned or marinated with something that contains an allergen or trigger.
  • There are plenty of stuffing’s and gravies that can be made allergy free too!
  • Even though ham is usually gluten free, it can be very inflammatory and should be avoided during times of stress.
  • Try a beautiful slow cooked brisket. There are many traditional recipes that avoid many of the typical allergens.
  • Traditional mashed and roasted potato, turnip or sweet potato recipes are well tolerated on most healing diets.
  • Avoid or modify some traditional holiday recipes that contain allergens. Many wonderful substitutions are available to fool your family “not yet diagnosed”.
  • Potato, onion and egg (or egg replacer), salt and pepper to taste make an amazing allergy free potato pancake for anyone on a healing diet.
  • A great egg replacer is chia seeds or flax seeds mixed with water.
  • Just a reminder most Vegetables and Fruit are safe for healing diets and should be plentiful on your holiday table.
  • Be mindful about cross-contamination issues. Remember when healing the body can be more sensitive to allergens or “offenders”. Gently remind your family chefs to be cautious with cooking and utensils.
  • Always plan to bring something to eat to the party. It’s an opportunity to point out “healthy food” can be delicious (and you are sure to have something to eat).
  • Better yet! You host the dinner and be sure to tell your party goers exactly what to bring, most people appreciate the direction and organization tips!
  • Include “new and improved” tradition, a mild veer away from the typical but still about family, food and fun! It takes the focus off “your healing diet).
  • To simplify holiday baking, use simple mixes or no bake style desserts, most of your dinner guests will be too full to eat dessert anyway.
  • Remember food is for nourishment and eat until you are full not stuffed.

If all else fails remember

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  • Walnuts are a good antidepressant
  • Oatmeal contains natural calming properties
  • Almonds balance blood sugar
  • Blueberries strengthen your immune system in times of stress
  • Dark Chocolate protects your heart, and stabilizes your mood

Holidays are a temporary experience, staying on track to healing leaves you with a lifetime of benefit!

for more recipes check out my blog or book!

***

Lung infections and MTHFR; Chiropractic can help!

It has been widely reported that individuals with MTHFR are more susceptible to asthma and other lung infections. In the winter, particularly in New England bronchitis and pneumonia is rampant, even among our kids. Conventional medicine offers little to support these kids and usually leads them down a road of more steroids and antibiotics, increasing susceptibility.

Sadly, we know that many classes of antibiotics given to individuals with MTHFR can leave kids with more symptoms than when they were initially seeking treatment. Steroids, lifesaving in many cases, are often over- prescribed, assaulting immunity in our youth, and leading them down a road that requires steroids as their only treatment.

Chiropractic has been a mainstay in medicine for nearly 150 years. However in many cases, families believe that chiropractic is for “back pain” or “after a car accident”, yet the research shows us that chiropractic is very effective for many, many acute medical conditions as well!

hippocrates

The lungs have an extensive supply of nerves that communicate with them.  What would happen if there was interference with communication to the lungs? It may lead to respiratory problems, bronchitis or respiratory infections.  Several studies demonstrate the effectiveness of chiropractic care and improved respiratory function, breathing difficulty and bronchitis.

The premise of chiropractic is wellness and true prevention. So, the idea is we don’t get sick at all when under chiropractic care; however, stress, mal-adaption and dis-ease can set in to all of us!

Studies have shown chiropractic care is safe and effective, meaning proper adjustments can restore health sooner and more effectively than other modalities.  Especially in the presence of shortness of breath, asthma, allergies, coughing and hiccups!

One of the biggest symptoms that young children experience with pneumonia, asthma and bronchitis is air hunger. Air Hunger is the feeling that “you are running out of air”, it is part of the process of healing the lungs after an infection and it can last a few weeks! There is little conventional medicine can do     for this symptoms, but chiropractic can make a big difference.   In discussing such cases, the term “somatic dyspnea” is suggested to denote air hunger or shortness of breath related to somatic dysfunction.  Somatic dyspnea is a condition, which may accompany other causes of dyspnea (lung pathology, psychogenic or “functional” causes etc.)or can exist alone. There are multiple studies that prove, this symptom of air hunger was alleviated or abolished following the correction of vertebral subluxation complex or other somatic dysfunctions, aka, a chiropractic adjustment.  The response to chiropractic adjustments is sometimes so dramatic and rapid that patients may have an emotional response to taking their first FULL breath in a while!

The take home message is, first of all conventional therapies are useful in acute life threatening conditions or episodes. Secondly, individuals with MTHFR are likely more sensitive to everything; drug dosages, dis-ease, imbalance and environmental change. Thirdly, chiropractic is more than just for back pain; it’s useful in many acute conditions and can restore health and balance safely and effectively. Lastly, take care of your body, watch for signs of dis-ease, imbalance and illness and address them immediately!

Don’t make chiropractic or holistic medicine your “last resort “make it your first stop to better health!

asthma-and-chiropractic-upper-cervical-14

 

 

 

 

Chiropractic adjustments of the cervicothoracic spine for the treatment of bronchitis with complications of atelectasis.  Hart, D.L. Libich, E, Ficher R. International Review of Chiropractic, 1991; Mar:31-33.

Chiropractic management of chronic obstructive pulmonary disease.  Masarsky CS, Weber M. Journal of Manipulative and Physiological Therapeutics, 1988; 11:505-510.

Adjustive osteopathic manipulative treatment in the elderly hospitalized with pneumonia: a pilot study. Noll DR, Shores J, Bryman PN, Masterson EV. Journal Of The American Osteopathic Association 1999; 99(3): 143-6

Somatic Dyspnea and the orthopedics of respiration.  Masarsky CS, Weber M Chiropractic Technique, 1991; 3:26-29

Specific upper cervical chiropractic care and lung function.  , R Abstracts from the 13th annual upper cervical spine conference, Nov 16-17, 1996 Life College, Marietta, Georgia.  Pub in Chiropractic Research Journal, Vol. 1V, No.1, Spring 1997 p.27 (also Kessinger R; Changes in pulmonary function associated with upper cervical specific chiropractic care J Vertebral Subluxation Research 1997; 1(3):43-9.

 

Torticollis and MTHFR

left-torticollis-in-infant

Torticollis, or wryneck, literally means “twisted neck” in Latin. A common transient condition found often, in individuals who have slept in the wrong position. A chiropractic adjustment or extra minerals can typically alleviate this type of torticollis. In newborns, torticollis can happen due to positioning in the womb, after a difficult childbirth or because the infant is trying to compensate for a tongue tie while nursing. This is called infant torticollis or congenital muscular torticollis. The use of forceps or vacuum devices to deliver a baby during childbirth also makes a baby more likely to develop torticollis, as in a    C-section delivery, an emergency, or precipitous delivery. Also having the genetic polymorphism, MTHFR can prone a baby to have a congenital tongue or lip tie, and increase the incidence of torticollis; this causes the baby to develop “compensation” to allow for nourishment through breastfeeding. Compensation may be in the form of a neck twist in order to develop a proper latch, for nourishment.

Torticollis is relatively common in newborns. Boys and girls are equally likely to develop a head tilt, the most common visible sign, along with tongue tie and a diagnosis of MTHFR.  Torticollis develops in utero or over time due to pressure on a baby’s sternocleidomastoid muscle (SCM). This large, rope-like muscle runs on both sides of the neck from the back of the ears to the collarbone. Extra pressure on one side of the SCM can cause it to tighten, making it hard for a baby to turn his or her neck.

torticollis-and-chiro

What to look for:

  • The head tilts in one direction
  • Preference to looking at you over one shoulder instead of tracking with the eyes
  • Difficulty breastfeeding on one side (or prefers one breast only)
  • Frustrated when unable turn the head completely
  • Positional plagiocephaly (flattening of the head one side) from lying in one direction all the time
  • Does not tolerate tummy time or gets stuck in the same position
  • Development of a small neck lump, which is similar to a “knot” in a tense muscle.

Even though over 45,000 infants are born with congenital torticollis in the US each year, there is little conventional medicine has to offer. Torticollis causes painful, involuntary spasms, impedes normal growth and development, and disturbs vision. The conventional medical approach to correct torticollis often involves invasive and painful procedures and treatments. Fortunately true healing can occur.

liptie

Best tips for quick healing of Torticollis:

  • Infant torticollis is often associated with subluxation of the upper cervical spine. So find a qualified pediatric chiropractor who can do an adjustment on your baby
  • Soft tissue therapies can often produce a rapid solution in many cases of infant torticollis
  • Be sure to get a proper diagnosis. Untreated torticollis can be misdiagnosed as reflux, colic, allergies, and fussiness
  • Be sure to evaluate and treat MTHFR and other genetic concerns that may predispose a baby to tight or pulled muscles, tongue ties, or any other conditions that may affect feeding

Always remember healing is possible, trust your instinct, it’s your baby and keep asking questions until you get the answers!

Autism and the other A’s (allergies, asthma and atopy/eczema)

the-atopid-triad

Why is it that many autistic children struggle with a lot of other “A”s?

  • Statistics show 25% of kids with autism has asthma too.
  • Statistics show 60% of kids with autism has eczema too.
  • Statistics show 8% of kids with autism has anaphylactic allergies and 40% have seasonal allergies.

Although there are multiple mechanisms for these conditions individually, the focus for this article is the global impairment of the immune system that predisposes kids with autism to other conditions.

The research shows that autistic kids are overburdened with all kinds of immune imbalance. This immune system imbalance initiates improper reactions to toxicity and how the body attempts to make every effort toward elimination (of toxins). Autistic kids have impaired detox mechanisms and altered methylation pathways, which are integral for detox of harmful substances the body comes in contact with frequently. Methylation is an important step in the detoxification of the body, and requires active forms of certain B vitamins in order to function optimally. When methylation is impaired detoxification is impairs and the body is overburdened, sending out signals that the immune system must be prepared for attack. “Attack Mode” for the immune system causes a overwhelming immune response to a normal circumstance.

Allergies…It is not biologically normal to react to food. Food is nourishment and provides the body with essential building blocks for all components to body function. When the body starts to react to its environment (and food) MAST cells are released. MAST cells release histamine, a chemokine that activates gut and brain neurotransmitters resulting in an “ITCH”. Histamine’s job is to activate white blood cells (WBCs) to stop foreign invaders, but when histamine is released by MAST cells that are activated in the absence of pathogens, the body begins fighting its environment. This rebellion causes global histamine imbalance in the body which sends the “ITCH” everywhere!

Imagine if you had an itch in your brain or gut that you couldn’t scratch..that’s how I imagine autistic kids feel every day!

When histamine is high, life altering symptoms can occur, and let’s not discount that histamine has a very vital job in the immune system, but;

  • If histamine is high in the skin >> eczema
  • If histamine is high in the lungs >> asthma
  • If histamine is high in the brain >> mood changes
  • If histamine is high in the gut >> allergies

STOP THIS MADNESS and heal the gut!!

  • Start by removing any chemicals or foods that trigger imbalance.
  • Consider probiotics (but discuss which strains or formulations are best for you).
  • Consider the removal of any and all potential allergens like molds, yeasts, preservatives, chemicals and sugars (which paralyze the immune system, later causing an over shoot and furthering improper balance), for the environment. Of course in most cases this cannot be done overnight but slowly phasing out will improve symptoms quickly!

Once the body is healed, as each healing process is different; many previously offending agents may be able to be reintroduced back into the environment! Make simple and effective changes, support body balance and start your healing today.

https://www.ncbi.nlm.nih.gov/pubmed/24997632

http://www.medscape.com/viewarticle/721702_2

http://emedicine.medscape.com/article/912781-treatment#d10

 

 

 

 

Common MTHFR Mutations and General Health

mthfr

What is a MTHFR Mutation? An abnormal change in gene structure/mutation, of the MTHFR gene can cause a disruption of the MTHFR enzyme’s normal function of breaking down homocysteine.

MTHFR mutations are common. The mutations can be “heterozygous” meaning they occur only on one strand or “allele” of the chromosome, or they can be “homozygous”, occurring on both alleles. The frequency of a mutation is common, occurring in about 60% of the population. MTHFR gene is directly related to hyperhomocysteinemia (high or elevated levels of homocysteine).

High levels of homocysteine can be attributed to many conditions seen in midwifery such as

  • Decrease in vitamin B-12 levels. Higher incidence of anemia
  • Complications in Pregnancy Due To Neural Tube Defects, posterior Tongue tie, lip tie
  • Anencephaly
  • Other neural tube defects
  • Spina bifida
  • Autism
  • Rheumatoid Arthritis Flares
  • Down Syndrome
  • PEs
  • Altered drug metabolism
  • Low vitamin d levels/ osteoporosis
  • Neuropsychiatric Disorders
  • Gestational Diabetes
  • Early Pregnancy Loss/ SAB (viable fetus)
  • Placental Abruption, Low Birth Weight

The most common MTHFR gene mutations are found at position 677 and/or position 1298 on the MTHFR gene.

Typical amino acids are replaced by others rendering the enzyme defective or inactive

  • MTHFR 677CC = a normal MTHFR gene
  • MTHFR 677CT = a heterozygous mutation which is one mutation
  • MTHFR 677TT = a homozygous mutation which is two mutations
  • MTHFR 1298AA = a normal MTHFR gene
  • MTHFR 1298AC = a heterozygous mutation which is one mutation
  • MTHFR 1298CC = a homozygous mutation which is two mutations
  • MTHFR 677CT + MTHFR 1298AC = a compound heterozygous mutation which is one mutation from two different parts of the gene

MTHFR 677TT + MTHFR 1298CC= DOUBLE Compound Heterozygus

folate-vs-folic-acid-1

Treatment: (of course always speak with a knowledgeable provider)

May or may not include.

  • Getting you or your family members tested (blood, saliva)
  • Avoiding all forms of synthetic folic acid and un-methlyated B vitamins like cyanoB12
  • Folic acid does NOT equal Folate.
    • Folic Acid a synthetic type of Folate. Folic acid is not found in nature. Folic acid must undergo various transformations prior to utilization.
  • Being mindful of all pharmacology and vaccines
    • Antacids (deplete B12)
    • Cholestyramine (deplete cobalamin and folate absorption) – common in gallbladder issues during pregnancy!
    • Colestipol (decrease cobalamin and folate absorption)
    • Methotrexate (inhibits DHFR)
    • Nitrous Oxide (inactivates MS)
    • High Dose Niacin (depletes SAMe and limits pyridoxal kinase = active B6)
    • Theophylline (limits pyridoxal kinase = active B6)
    • Cyclosporin A (decreases renal function and increases Hcy)
    • Metformin (decreases cobalamin absorption)
    • Phenytoin (folate antagonist)
    • Carbamazepine (folate antagonist)
    • Oral Contraceptives (deplete folate)
    • Antimalarials JPC-2056, Pyrimethamine, Proguanil (inhibits DHFR)
    • Antibiotic Trimethoprim (inhibits DHFR)
    • Ethanol
    • Bactrim (inhibits DHFR)
    • Sulfasalazine (inhibits DHFR)
    • Triamterene (inhibits DHFR)
  • Involving yourself with providers who are educated on MTHFR
  • Take supplements that are methylation supportive
    • L-5-MTHF
    • Riboflavin (B2)
    • Methylcobalamin or Hydroxocobalamin
    • Zinc
    • DHA
    • Choline
    • TMG (must be avoided in pregnancy)
    • Magnesium
    • Methyl- B6
    • NAC
    • Vitamin E (natural forms only)
    • Selenium
    • Glutathione
    • Vitamin C
    • Vitamin D
    • Potassium
    • Probiotics
    • Molybdenum
    • Milk Thistle
    • *****Avoid gluten as 20% of patients with MTHFR have gluten sensitivity and gluten is inflammatory

 

What a post-partum mom really wants when you visit her and her baby

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Truth is visits from well-meaning family and friends are always welcome! It’s the unsolicited advice or subtle (pressured) offers to hold/ care for the newborn we could all do without. Research has shown us time and again that the first weeks of life are critical for bonding, proper milk supply and post-partum recovery of the mother.

The best things we can do for mom and her new baby is:

1) Take their other kids somewhere. Older siblings are usually under stimulated by the daily goings on of a newborn. So take the other children for as long as you can, and bring them back exhausted and fed.

2) Feed the mama! Remember she is constantly feeding another human! Be sure to check with here to see if there are particular things she is or isn’t eating. Be sure the dish is disposable or a gift. Post-partum moms do not have the best memory capacity.

3) Collect some cash or a gift card for cleaning services! Who has time for cleaning after you have just spawned a human from your loins! Find a trusted service or person to do the job! Worth every cent!

4) Offer to watch the baby while mom naps or showers. Both those items become scarce in the immediate post-partum period. A few minutes of your time are a huge gift to a tired or smelly mama!

5) Help to recognize signs of postpartum depression. “Baby Blues” can last 6 weeks, anything beyond that that could be cause for concern should be addressed and guided to the proper provider. As you all know regular chiropractic has been shown to reduce post-partum depression. Be Sure to on the lookout for tell-tell signs that mama might be struggling.

6) Invite mamma and baby to get out of the house. We all know what kind of Olympic sport it is to get a newborn fed, changed and clothed to get out; help her get a change of scenery, even if it is only a short walk around the block.

7) Offer to run errands for her, do her grocery shopping in person or online, pick up a few items at the coop, grab that homeopathic for the baby’s prickly stomach (remember #6) it is likely she will gladly accept the help.

8) Make a sign for their door that says “Baby Sleeping” or “please come in..and do some laundry” in early postpartum days sleep is precious get any and all you can! And avoid being disturbed by the UPS guy or the neighbor’s kids who want to play.

Truth is we have all been there and we all need the help. This is an amazing way as women we can support each other and grow together. When mama is recovered she will be ready to help you with your bundle of joy!

Backpacks or Back Pain?

 

dock pack.jpgSo quickly, it seems, the summer is nearly over and soon children will be back to school.  Along with brand new school clothes, come new backpacks soon to be filled, or over filled with school supplies.  It’s safe to say most students won’t be thinking about back and neck pain, but that’s what they risk if their backpacks are too heavy or are not carried properly.

If a backpack is carried improperly or is excessively heavy, it can result in the severe back and neck pain, neck or back injury, poor posture and generalized fatigue.  Excessively heavy back packs may harm muscles and joints as well, compounding, serious fatigue to the child’s body.  Though books are essential for learning, carrying them, should not affect physical well being..

Heavy backpacks may be more than just an annoyance for students.  Studies show an overloaded backpack forces the child to compensate by leaning forward to balance the load, creating potential health problems if the backpack is over weighted and hanging too low. This action can cause kids to hunch forward, putting an awkward strain on the shoulders, spine, and muscles.  This is no laughing matter, it has been reported that most students in The US carry school backpacks.  Stress and strain to their bodies resulted in over 7,000 emergency room visits in 2006 and approximately half of the injuries reported occurred in children 5 to 14 years old.  NPR reported that over 65% of all adolescents’ visits to a health care provider were due to back pain.

According to a study conducted by UC Riverside, the prolonged strain of the backpack weight can result in long term injuries. The study involved 3,500 students between 11 and 15 years old.  64% of the students reported back pain and 21% said that the pain lasted for more than six months.  Another recent study found that backpack use significantly altered head-on-neck posture in every age group studied. This finding was most pronounced in younger students.  In a survey of the orthopedists, 58% had said reported seeing patients complaining of back and shoulder pain caused by heavy backpacks. More than 70% of the orthopedists surveyed indicated that heavy backpacks can become a clinical problem in school-age children if not enough attention is made to decrease some of the weight being carried in the packs. Research tells us that the earlier children are diagnosed with back pain the longer in life they are affected.

As a rule the total weight of a backpack should not exceed 10-15% of a child’s total body weight.  So if your child weighs 50 pounds their backpack should not weigh more than 5-7 pounds- that includes the backpack and all of its contents.  Parents can also teach their kids to carry the backpack correctly, by using both the straps.

To reduce injuries or pain resulting from back packs, students can increase muscle strength and endurance, making back pain is less likely. Purchasing a backpack that has straps that go around the hips to keep the weight away from the back, also help balance the “load” and distribute the weight more evenly and also reduce injury. Backpacks should never hang more than four inches below the child’s waistline. Backpacks should be smaller than the child’s back. Straps should be padded and used at all times to avoid an uneven pull on the back.Proper positioning of a backpack is in the center of the back. Adjust the straps and use the middle waist belt if available to keep the backpack from hanging too low. It should rest between or below the shoulder blades. Using a chest strap helps distribute the weight evenly across the back.  Packs should not go below the lumbar spine.

Some easy and practical tips to reduce injury are:

1. Keep extra books and notebooks at home.  So there is no need to lift extra weight.

2. Always wear backpack on both the shoulders. Carrying backpack on one shoulder can put the pressure on one side of the body and can cause injury.

3. Wear both straps of the backpack at all times, this distributes the weight load evenly so well aligned posture is encouraged and facilitated.

4. Avoid carrying backpack for a long time.

5. If the backpack is very heavy, use the belt that will save from back problem.

6. Buy a backpack with wide well padded straps, and a chest strap that can distribute equal loads.

7. Use the bag with wheels if backpack is too heavy.

8. Avoid buying a backpack that in itself has a lot of weight.

9. Encourage kids to use lockers at school if available.

10. Lobby for less homework so books can stay at school.

11. Visit your local Chiropractor for wellness checks and symptom management.

12. Watch body mechanics putting on and taking off the backpack. Avoid twisting and bending together at the waist. Swinging the weight to get the backpack on is a sign it is too heavy.

13. Weigh backpacks regularly and “clean them out” often to avoid carrying additional unneeded weight.

The American Occupational Therapy Association has named September 19 as National School Backpack Awareness Day.  This organization educates communities on proper backpack ergonomics. The theme is, “Pack It Light, Wear It Right!”  Back to school is a fun and exciting time in a child’s life…make is a safe and pain free one too.

#backpacks, #chiropractic, #posture