Caring for the Caregiver: Mind Your MTHFR! by Julie A. Buckley, MD

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    Julie A. Buckley, MD, FAAP, is a graduate o the University o Miami School o Medicine and o the Jackson Memorial Hospital/University o Miami Pediatric Residency Program, Dr. Buckley developed an abiding interest in autism spectrum disorders when her daughterregressed into the world o autism at our years o age. She developed a similar interest in breast cancer when she developed it hersel in2009. Using an integrative/unctional medicine approach to both diseases, both mother and daughter have had dramatic recoveries. Asa result o these successes, this approach has been implemented into her unique and diverse practice in Ponte Vedra Beach, Florida. Dr.Buckley is the author o the book Healing Our Autistic Children, which was released in September 2009, and she speaks internationallyon autism and related disorders. She has also developed a patented antioxidant ormula or peri-vaccination and peri-oxidative stress use.Dr. Buckley co-ounded HEAL! (Healing Every Autistic Lie!), a 501c3 non-proft oundation, and more recently has ounded HealthyUNowFoundation, a 501c3 non-proft oundation dedicated to creating acilities or individuals and their amilies impacted by autism.

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    IntroductIon

    Evidene monts or atism being a whole-bod medial illness that isenvironmentall inened with a role or geneti vlnerabilit. As parents ohildren with regressive atism, we need to remember that the apple sal ldoesnt all ver ar rom the tree.While we are or hild ren whose

    disease srprises s dail withits maniestations, and while weinnovate or hildrens treatmentsbease o atisms relativenewness to the medial world,the inevitable stress o raisingor hildren takes a toll on s,the aregivers. I we are to avoidbeoming ill orselves, we mstativel maintain or health as avita l entit something more t hanjst the a bsene o disea se.

    defInIng autIsmTe model o atism as amedicaldisease began with L eo Kannersdesriptions o his 11 patients.Somehow, Kanners broaderperspetive qikl ell b thewaside when experts in stead ledatism in thepsychiatricdisease ledrawers. Dr. Sidne Baker, srelone o the wisest and most astteliniians to ever walk this planet, desribed the disease beatill and drewattention bak to its medial aspets when he pt atism spetrm disorders(ASDs) at the enter o a Venn diagram (see Figre 1).

    Tose o s who work in atism are taght initia ll that atism lies at t heintersetion o three Venn diagram sets: behavioral problems, social skills problemsand communication problems. In the last deade-pls, thogh, a broadening o onderstanding has added a seond grop o sets that we now onsider to also

    be at isse in atism: bowel diseasewith it s diverse ma niest ations,

    immune dysregulation in its mriadpresentations, and methylationchemistry disrption with itsdevastating impat on olatehemistr and gltathioneprodtion. (Te rst twowere aptl desribed long agob Kanner; the third took thearrival o Jill James and herresearh to rond ot whatliniians were observing.) Morereentl, ntional mediinehas reminded s o a great trth

    that gives s a t hird grop o setor or more omprehensiveVenn diagra m: toxicants(thingsplaed into the bod that sholdnot be there) and the two bodilproesses that toxiants wil l neaniversall reate, namel, achroinfammatory responseand oxidativstress. Te sessl treatment oatism as a whole-bod medial

    disease lies in addressing the seond and third gropings o sets. What isamazing is that when we do that, the behavioral maniestations o atism (therst grop o sets) tend to take are o themselves.

    Caring for

    the Caregiver:Mind Your

    MTHFR!By JuLIE A. BucKLEy, MD

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    rning to the methlation hemistr disrption omponent o theseond grop o Venn diagram sets, the work o Jill James elidated theritial role o methlenetetrahdroolate redtase (MHFR) i n atismrisk and atism management. M HFR reates ativated olate, whih isritial to nerotransmitter ntion, among other things. M HFR alsoreates a ree methl grop that is donated to the vitamin B-12 we eat, ma kingmethlobalamin. Methlobalamin i s imperative in spporting t he bodssnthesis o gltathione, whih is or master antioxidant and innate managero oxidative stress. When this methlation proess works normall, we makegltathione as we shold. When, however, this methlation proess does not

    work optimal l, we reer to the problem as hpomethlat ion.Scient exposre to toxicants can compromise the nction o MHFR

    and case hypomethylation in anyone. However, genetic vlnerability makesit mch easier or MHFR nction to be afected. Interestingly, whereas theincidence o genetic vlnerabilities in MHFR i s estimated to be bet ween 42%and 56% in the uS poplation as a whole,1 the nmbers are at least 1.7-old higherin the atism poplation.2 One retrospective review o charts ond that 98% ochildren with atism had at least one polymorphism in the MHFR gene.3 Tishigher incidence is inherited rom the parents, and therein lies the caregivers rb.

    chronIc stress as a toxIcant

    As aregivers to hildren with atism, we are ami liar with the Venn diagram

    o or hildrens disease, and we are ofen adept at jggling t he interventionsor hildren reqire in the prsit o reover. What we orget, thogh, is thator hildren aqired their geneti vl nerabilities rom s! When we inrhroni stress in aring or or hildren, the stress ats as a toxiant and indesa hroni inammator response and oxidative stress in or own bodies. Asgenetiall vlnerable aregivers, we ma then strggle, like or hildren, tosnthesize ativated olate, methlobalamin, and, ltimatel, gltathione.Lowered gltathione an be expeted to have an impat on or immne,bowel, and detoxiation ntions and ompond the problem o vlnerablemethlation pathwas, jst as it does in or hildren.

    It is ommon knowledge that emotional stress inreases smpatheti ghtor ight hormone release and that this is not good or s when it happenshroniall. Researh into aregivers as a medial entit is showing that stress

    is atall proinammator4 and impats or immne ntion5 as well asinding oxidative stress.6,7Emotional stress also lowers gastri motilitand inreases oloni motilit,8 aeting bowel ntion. In short, stress as atoxiant prodes a asade o eets in or bodies simi lar to what or hildrenexperiene.

    Researh also shows s that one o the onseqenes o hpomethlation isto shorten the telomeres on or DNA.9 elomeres are like the gards at eitherend o tightl paked DNA. I telomeres are poorl methlated, the shorten.Shortening o the telomeres is assoiated with aging. elemere shortening alsoallows or normall tightl oiled and qiesent DNA to npak, mh likeopening the proverbial Pandoras box, and allows nexpressed disease genesto begin to express themselves. With or vl nerable methlation pathwas,exposre to hroni stress will not ase s to develop atism bt will ase sto age mh more qikl and will allow hroni illnesses that are enoded onor individal DNA to maniest. Te longer that high-stress aregiving goeson, moreover, the more signiant will be the oxidative stress and telomereshortening that we experiene, and the aster the aging.9

    makIng the caregIver a prIorIty

    As I learned personall in 2009 when I developed breast aner (and then addedaner srvivor to m list o lie aomplishments), it is mh more dilt tobe helpl to or hildren when we as aregivers are sik than when we are well.Althogh this ma seem painll obvios, the realit is that , when it omesto taking are o or own health, we tend to pt orselves seond (at best) or,more ommonl, dead last in the amil. However, given that or hildren havea disease that ofen reqires ears o treatment and therap, we wold be wiseto begin taking are o orselves so that we an be present or or hildren overthe long-term.

    O orse, we know that anthing we do or orselves needs to be readilaomplished within the bs ontext o aring or or hildren. It mstnt takeextra time awa rom or preios sleep, it mst be ree (or virtall so), andit mst be ompatible with reqent interrptions! Fortnatel, this is not asimpossible as one might t hink, e speiall given what we have learned rom orhildren as we restore their health. Basi tehniqes are available that we an seeven in or high l speialized lives o pandemonim and haos. Tese inldeood, sleep, exerise, spplementation, and relaxation.

    FOOD

    Perhaps the most important mediine o all is the ood we eat. It is ritiallimportant that we norish orselves jst as we do or hildren and model the

    diet we want or hildren to eat. Its amazing how dierentl the bod willeel and respond. We are a lread well aware o t he proinammator natreo glten and asein as well as their abilit to orm irlating opiates in orbloodstreams. Wh, then, do we resist eliminating them? We also know thatarbohdrate overload promotes dsbiosis and makes or blood sgar highs andlows throghot the da. And we know that vegetables are good or s, organioods are mh more ntrient-rih than non-organi oods, and that the ats innts and seeds are the health ats t hat norish or brains. able 1 smmarizessome o these simple rles.

    tbl 1.

    Dtar prnps for argvrs and hdrn

    1 Eat your colors. (The person who gave me this adviceaccompanied it with the admonition that they needto be the colors that God gave the food, not a colormanufactured in a factory.)

    2 Eliminate gluten and casein.

    3 Eat fewer of the white foods that turn too quickly to sugar.

    4 Make organic choices to the extent that your budget willallow. This is especially important with the so-called dirtydozen (those fruits and vegetables that absorb the highest

    amounts of toxins when grown conventionally).5 Choose more veggies and fewer fruits.

    6 Chew on some seeds and have some nuts.

    Perhaps the most important mediine o all is the ood we eat. It isritiall important that we norish orselves jst as we do or hildren

    and model the diet we want or hildren to eat.

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    SLEEP

    Another area we tend to neglet is or sleep. When or hildren sleep (i the

    sleep), we ofen sta p late reading abot how to help them. However, orbodies do signiant healing as we rest. Its rial to make sre that t he entirehosehold, inlding s, is sleeping well. For those aregivers with their ownsleep dilties, a little melatonin is known to help sta rt sleep, and ofen some5HP will ontine it. It is also important to remember that exerise improvesthe qalit o or sleep.10

    EXERCISE

    Exerise ma well be one o the most important things we an do or orselves.In addition to helping with sleep, exerise boosts energ levels,11 reglatesappetite,12 reglates weight,13 modlates or immne ntion,14 andreglates mood.15 It isnt neessar to join a gm to get exerise. Walking is

    one o the heapest and most sstainable orms o exerise there is, and theonl eqipment o need is a pair o sneakers. When I was taking m son to theorthodontist, those hal-hor earl morning appointments never went to waste;instead o sitting in the waiting room, I went to the parking lot and walked theperimeter as qikl as I possibl old, getting m heart rate p a nd m bodmoving. Some o s do mh better sstaining exerise when we hold orselvesaontable in some ashion. One eas wa to do that is to sign p or the 5Kwalk /rn raes that a re prevalent a ll over the nat ion these da s. I we know wehave an poming event, we ma be more likel to train or it.

    moderate and vIgorous exercIse

    Public health authorities teach us that we should get 150minutes o moderate exercise or 75 minutes o vigorousexercise each week. To understand what moderate andvigorous exercise mean or us, we frst need to be able tocalculate our maximum heart rate (MHR). This is done bysubtracting our age rom 220. The result is our MHR.

    Moderate exercise is activity that gets your heart rateup and sustained at 50-70% o your MHR. To fnd yourmoderate exercise heart rate, frst multiply your MHR by0.5 (MHR x 0.5) and then by 0.7 (MHR x 0.7). The twoanswers give you the range your heart rate should stay inthrough the course o your exercise session.

    Vigorous exercise is the term used or exercise that has asustained heart rate between 70- 85% o our MHR. To fndthe heart rate you need to sustain or vigorous exercise,multiply your MHR by 0.7 (MHR x 0.7) and again by 0.85(MHR x 0.85). This will provide you with your range orvigorous exercise.

    Once you know what your numbers are, its important toget out there and make sure youre actually raising yourheart rate!

    SUPPLEMENTATION

    Te topi o spplementation tends to be sbjet to the most disssion. In

    an ideal world, we wold be able to eat all the neessar vitamins and mineralsor bodies need in or oods. However, there are a ew things that we mstremember when making that promise to orselves. First, to be sessl inmeeting or needs with ood alone, we wold have to eat a primari l organiresh green-lea plant-based diet. We wold have to avoid all additionalstressors to or bodies that might inrease or bods needs or vitamins andminerals on a da-to-da basis. We wold have to avoid an environmentalstressors that might inrease or bods needs or antioxidants or anti-inammatories. unortnatel, there are ver ew olks who are able to do t hthings.

    Te next thing we need to remember is that the Daily Valuenmberslisted on the ntritional labels we inspet so arell are not optimal

    reommendations. Tose dail vales are atal l the minimalamont o eahntrient that is reqired b the average health hman bod in order to avoiddeveloping a deien disea se state. I know that m personal needs hangerom da to da. I Im relaxing at home, eating m home-ooked organi oodand all is right in m world, m needs are less. I I work a ll da at the oe anjmp on a plane to go to spea k at a onerene on the ot her side o the ontrm ntritional needs are signiantl higher.

    Armed with that knowledge, what, i an, spplements shold we aregivertake, and whih spplements shold we avoid? Te list o what might be seis ver long, bt or the prposes o this disssion, Ill keep the li st deliberateshort and os on the least ex pensive spplements that oer the greatest baor the bk.

    Antioxidants: First, enhaning or antioxidant stats and reding oroxidative stress is rial. Vitamin c is a sae and inexpensive antioxidantthat is readil avai lable. Generall speaking, bered orms are probabl thebest hoie, and doses rom 500 mg to several thosand milligrams d ail areofen sae, depending on the individal sitation. At the same ti me, roman antioxidant standpoint, avoiding the se o aeta minophen is importantbease aetaminophen lowers gltathione snthesis.16 Were as tomedto sing aetaminophen-ontaining prodts to rede ever and pain whenwe are sik, bt, ironia ll, when were sik is the ti me when we need al l o thegltathione we an make. N-aetl-steine (NAc) is another inexpensiveantioxidant, bt it is thoght to worsen dsbiosis, meaning that it ma not be good hoie i or bowel is not robst and health.

    Vitamin D3: Another ver inexpensive spplement that we sorel need isvita min D3 (holealierol), a at-solble vita min. In a ddition to the w idelreognized importane o vitamin D3 or alim metabolism,17 it also plasan important bt less well known role in serotonin metabolism18 and immnntion.19 When vitamin D3 is present in the bod in sient qantit, itatall i s not a vitamin bt ntions as a steroid hormone,20 ontribting toadrenal and sex hormone snthesis and normal ntion. We are disoveringa relative epidemi o vitamin D3 deien aross the nation and world.21While at-solble vitam ins are a l ass o vit amin s that we t pia ll monitorlosel or possible toxiit, vitamin D3 toxiit is rarer than hens teeth.22 Froan evoltionar standpoint, we were designed to be otside and nlothed 24hors a da. Given that were nlikel to go bak to getting that mh snshin

    Exerise ma well be one o the most important things we an do or orselves.In addition to helping with sleep, exerise boosts energ levels, reglates appetite,

    reglates weight, modlates or immne ntion, and reglates mood.

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    to raise or vitamin D3 levels, we ma be well served to have or D3 levelsmeasred and begin spplementation. Almost niversall, phsiians agree t hatvita min D3 levels o at lea st 60 nmol/l and perha ps as high a s 80 to 100 nmol/lare needed or or bodies to ntion in the wa the are spposed to. Te vastmajorit o adlts will do ver well with spplementation o 5,000 Iu da il; itshold be in the D3 orm, and levels shold be ollowed.

    Omega-3 fatty acids: Omega-3 att aids are another lass o wideldeient ntrients in t he united States.23 With tremendos anti-inammatoreets, omega-3 att aids are ommonl alled Gods ibproen. Most o s

    think o sh oil as or major sore o omega-3s, bt another ablos soreare lea green oods.24 However, were nlikel to ll or dr omega-3 wellswith d iet alone, so spplement ation is import ant. Sore is ver importa ntwith sh oi ls. Its importa nt to hoose brands that t est and ontrol thei r qal itrigorosl, and it is best to ensre that the ompan removes the organs beorepressing the esh to minimize the toxiities now present in so man sh.

    Probiotics: Another signiant deien in most o s that is e as tospplement is probiotis. It is widel nderstood that probiotis help s todigest or ood and ma ke better stools. Entire textbooks have been writtenabot the mriad roles probiotis pla in the health o hmans; most espeiallthe are immensel important to immne ntion.25 Its gratiing that most

    liniians now reommend probioti replaement in the event that antibiotisare needed.

    Multivitamin: Last on or list o ost-eetive spplements is a goodomprehensive mltivitami n. It shold be rih in B-vitamins and replete withabsorbable minerals. Tere are man good brands ot there, and man are verinexpensive.

    RELAXATION

    Studies have ocused or years on the negative impact that negativeemotions have on our health. Recently, greater attention has ocused on

    the countervailing power o positive emotions to inuence our hea lth andwell-bein g.26 In this regard, one o the least expensive and perhaps mostuseul ways we can be eective in caring or ourselves is to use techniques orelaxation, imagery, and a rmation. Tese can help us cha nge how we perceiveour world, ourselves, and ou r day-to-day experiences. Relaxation techniquesare numerous, and many are very eective. Most gu ided imageries last rom5-15 minutes and may, thereore, be reasonable things or us to nd time to doduring the day.

    Te recent advent o relaxation techniques that employ mindulness a ndgratitude have proven to be one exceptionally eective way to inuence

    our mental a nd physical well-being.27An example o such a program isHeartMath, which oers relaxation techniques or both adults and children.HeartMath programs or children have been used very successully by someo our children with ASD. What is ascinating is that pa rents o children withASD who practice HeartMath techniques have been ound to inuence notonly their own health but also the health o their children. Heart Math practiceonly requires ve minutes daily, and t he eects are sustained or many hoursafer the practice.

    conclusIon

    Ofen, we eel as though we are swimming upstream as we seek to heal ourchildren. Te process can be expensive and challenging , and requently we nd

    ourselves eeling isolated and rustrated. What I have tried to show here is thatit is critically important or us to care or ourselves. As parents o children withautism, we experience extraordinary stress as we work to sur vive and hopeullythrive with autism. Acknowledging that the stress o ca ring or a loved onewith somet imes extraordin ar y special need s is ext remely chal lengin g allowsus to recognize that it i s imperative to nd eective ways to care or ourselves.Fortunately, there are many things we can do or ourselves that are cost-eective and require relatively little time.

    I still hold out hope or the wedding and t he grandchildren--or my daughterand or my patients. But in my post-cancer lie, there is a new corollary to thi shope. I want to be here and healthy so that I can participate in t hose events.

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