Wednesday, July 21, 2010

Multiple Chemical Sensitivity & AIP

Foreign Chemicals are Introduced Into the Body in Many Ways...

Medical Prescriptions and Over the Counter Medications
Lifestyle Choices (Smoking, Alcohol, Street Drugs)
Poor Air, Water, Food and Environmental Quality
Hygiene Products

For some people, the body has a very difficult time metabolizing (breaking down) "foreign chemicals" and they can accumulate/build-up in the body causing damage/illness.

For people with Acute Intermittent Porphyria the body's metabolism is already compromised. This population can be especially prone to accumulating toxins.This problem is intensified by the fact that in trying to metabolize the "foreign chemicals" the liver initiates an Acute Episode of AIP. These people can experience both the "foreign chemical" accumulation, causing damage... simultaneously with an ALA, PBG and Porphyrin toxic accumulation.

There are several Porphyria Organizations World-Wide that maintain an Evidenced-Based list of AIP Safe Medications and Medications known to "Trigger" Acute Attacks of AIP.

People with AIP must learn to identify the Environmental and Lifestyle Triggers that effect them. Avoiding "Triggers" provides for less Acute Disease Exacerbation and a better Quality Of Life.

Sunday, July 18, 2010

AIP Visuals

Defining: Acute Intermittent Porphyria (AIP)

Defining: Acute Intermittent Porphyria (AIP)
This is for “Joe, the Plummer” and Everyone Else

AIP is an autosomal dominant genetic (in-born) condition. (Gene Locus 11q23.3) provides a nice Power Point Demonstration on human genetics.

Genes are part of “the body’s basic instruction guide”. If a particular part of “the guide” is faulty or missing the job cannot be completed correctly.
My AIP stems from “a missense mutation, R116Q, in one of my HMB-sythase alleles.
My PBGD enzyme instructions are “mutated”/damaged.
In Acute Intermittent Porphyria only one parent needs to have an “abnormal instruction guide” and approximately 50% of the couple’s children will have the same condition.
I think of genetic alterations like a good cookie recipe that someone has either distorted by spilling coffee on… or it has been ripped and is missing some key information. What you get when you use “the recipe” is a “different cookie”…maybe too much sugar… not enough flour or no chocolate chips at all!!! Sometimes you hardly know that something is missing, while other times so much is missing from “the recipe” that it doesn’t turn out at all.

There is a porphobilinogen-deaminase (PBGD) enzyme deficiency.

An enzyme is an essential protein that assists in the body’s biochemical processes. In AIP there is a deficiency in the porphobilinogen-deaminase (PBGD) enzyme. PBGD is the third enzyme (ingredient) the body requires in the heme-making process.
I have been diagnosed with a 50% enzyme deficiency.

The body’s ability to effectively supply heme is altered.
This alteration can create shortages in times of need.

Heme is full of iron and makes red blood cells red. It can be found in all body tissues. Heme is most concentrated in blood, bone marrow and liver.
Heme is a component of hemoglobin, which is needed to transport oxygen from the lungs to all parts of the body, and then take the carbon dioxide from the body to the lungs to be exhaled /removed.

This information was modified from the Mayo Clinic information at

There is an abnormal accumulation/ build-up of bio-chemicals (porphyrin precursers & porphyrins) in the body (primarily: ALA- an amino acid & Porphobilinogen- a pyrrole).

Although porphyrin precursors (ALA & PBG) and porphyrins are normal body chemicals, it's not normal for them to accumulate in the body.

The Mayo Clinic has a good Porphyria explanation at

Abnormal bio-chemical concentrations in the body cause damage, altering the body’s ability to function properly.

Drugs (especially ones that require cytochtome P450 enzymes), fasting, dieting, smoking, illness, and stress, are some examples that increase the body’s demand for heme made in the liver. This “trigger” turns on the body’s ALA & PBG buttons… and large amounts of ALA & PBG are produced. These biochemical products accumulate because of AIP’s in-born enzyme deficiency.

I used the following article as a basis for the information contained in this summary.
Recommendations for the Diagnosis and Treatment of the Acute Porphyrias
Karl E. Anderson, MD; Joseph R. Bloomer, MD; Herbert L. Bonkovsky, MD; James P. Kushner, MD; Claus A. Pierach, MD;
Neville R. Pimstone, MD; and Robert J. Desnick, PhD, MD
Ann Intern Med March 15, 2005 142:439-450

The following link assists in providing formally accepted medical definitions.

Friday, July 16, 2010

Multifaceted Nervous System Dysfunction Related To AIP: A Discussion

The nervous system has a functional relationship with all bodily systems (see diagram). In individuals with active Acute Intermittent Porphyria (AIP), the nervous system becomes assaulted by an altered chemical environment. This abnormal chemical status is a result of metabolic disruptions secondary to the inherited porphobilinogen-deaminase enzyme deficiency within the heme synthesis pathway.

The greater the chemical imbalance… the more severe the neurological effects.

The more sensitive a person’s nervous system is… the greater the neurological impact.

Neurological effects can range from obscure mild irritations to life-threatening…(i.e. Bulbar Paralysis/ Loss of Respiratory Ability).

Neurological effects can be intermittent or chronic/ long-term.

The key seems to be re-balancing the body’s chemical status and calming metabolic demands.

I believe that effective enzyme replacement therapy would be ideal, but is not openly available today. In theory this type of replacement would act in much the same way that insulin injections do for a diabetic person.

Current AIP Treatment Involves:

Prevention/ Trigger Removal
Treating Signs & Symptoms
IV Glucose
IV Heme
Long-Term Medical Monitoring

Thursday, July 15, 2010

Evidence-Based Medical Mountain Climbing: For Quality of Life Enthusiasts

As a born nature enthusiast I needed to shift my perspective as I found myself in the midst of an adventure of alternate kind…

The first 29 years of my life were spent in the Finger Lakes Region of Central New York State. Waterfalls, gorges, country roads, camp fires, rolling hills and the beautiful tapestry of fall foliage beckoned my senses at every waking moment. I even set up my bed in the middle of the living room at one point just to wake up to the “simple things”: fox running through the orchard; the pheasant family scurrying under the forsythia bush; the colors of sunrise and the morning glories in full bloom. I sampled the rest of the country’s raw beauty the summer of 2004. Camping in the back of my husband's F-150 pick-up truck as we trekked out west visiting many of our nation’s best parks and "Cecret" lakes (Wasatch Mtns, Utah). So many “natural” adventures and such good times!!
Rocks, I love to collect them. I have rocks from all over the country. Rocks are nature’s foundation. Yosemite National Park is an excellent place to experience the massive strength that the presence of solid stone creates.

Metaphors can be a great way to share information in a way that is easily understood by most who are interested in understanding. Metaphors are one of my favorite ways to share information. Evidence-Based Medical Mountain Climbing: For Quality of Life Enthusiasts… this phrase has many metaphors tucked into its meaning.

“Evidence-Based” is the phrase of the day if you work in the health care field. The goal is that all health care diagnoses and treatments directly stem from “rock-solid” scientifically researched proof. Guessing and grouping is “out”, evidence-based practice is “in”, a sort of, “prove it” mentality. This is good news for patients, and can provide concrete treatment guidelines for health care providers.

“Medical Mountain Climbing” metaphorically describes a shift in my nature enthusiast perspective. Instead of climbing the stone mountains of Yosemite, I imagine climbing nature’s “Rocky Health Mountains” related to managing wellness.

“Quality of Life Enthusiasts” are people who want to make the most out of wherever they are on the natural spectrum of human wellness.

Auto Biographical Information

Perseverance/ Transcendence

I am a country girl from the Appalachian Culture that developed into a teen mother, then into a divorce’ with two young daughters, all before 22 years of age.
Some label my history dysfunctional…maybe…
As I reflect on my life today I appreciate my early trials as a type of “training-wheel” period. Sure my knees got skinned up, but I have developed excellent problem-solving ability. I can buy an entire name brand outfit for less than $3 or feed a family of three health conscious meals on $30 per week (terrific resource allocation ability). Now at 40, I have a comfortable home, a loving husband, four terrific children, two dogs, two cars, and a picket fence. The domestic stability is here, the finances are sufficient and our spirituality is growing. I never quit. I have always tried very hard to look at every situation from several perspectives. Each challenge in life has been a learning experience and my wellness journey is consistent with this pattern.

Becoming a Nurse

I have always found great personal reward in helping others.
Some label my personality as codependent… maybe…
To me nurses have the opportunity to be the most effective “wellness guides”, full of good will and insight. The best nurses are the ones that understand “The Bigger Picture” of life’s journey, and then apply their energy in helping patients through the hard times. This is who I am. I have never been the best at reciting every potential biochemical interaction but I have a good eye for assessing disruptions in well being then taking appropriate action steps to address the situation. I see individuals as part of a greater whole and strive to facilitate optimal comprehensive wellness. My life’s goal would be to leave a significant “nurse footprint” (as opposed to a “carbon footprint”) where I once existed.

I became a Registered Nurse in 1994 when I successfully graduated a two year associate degree program. My bachelor of science in nursing was completed in May 2004. I remain uncertain if further formal education is in my horizon. However, at present I have made it through my fourth year of wellness work, attending the University of Chronic Illness and Rare Disorders (another life metaphor).
The best nurse “wellness guides” are the ones who have “been there” themselves. They have hiked the toughest health journeys. They have survived the most adventurous wellness climbs. They understand the terrain. They know the best paths to take and how to avoid unnecessary tragedies. I have “been there”. I have hiked it. I live it. When the path ends, I “blaze” a new trail to reach my goal. I am a survivor! I know some things that work. I know some things to avoid. I will never “know it all”, but I will always continue to learn. I want to help others manage their disruptions in well being. So, let’s go hiking!

Some Medical Mountain Climbing Necessities

Comfortable shoes with good support: Primary Care Provider that is the “right fit”

Can you picture what it would be like to finish a five mile hike wearing a pair of high heels or a pair of shoes two sizes to small… pure agony, especially on rough uphill terrain! That is exactly what it feels like to go “Medical Mountain Climbing” during a time of illness with the wrong Primary Care Provider. A health care provider that does not “fit” your personal needs or make you feel comfortable with “good support” should be considered for the “Good Will” shoe pile. Some specialists have exquisite specialized knowledge and ability but are seriously lacking in the bedside manner department. Others are superb with their social skills but do not have the specialized skills that your condition requires. What can you do? Well, here is another analogy for you… I own about 20 pair of shoes and as of today my “Medical Mountain Climbing” team consists of approximately 9 physicians.

Primary Care Doctor- Team Leader
ENT Specialist
Porphyria Specialist

Out of my 20 pair of shoes there is only one pair that I would wear hiking in rough terrain. My hiking shoes are very comfortable with good soles and excellent support. The other shoes have their place in my life, but not on the trail. These trail shoes represent the role of Primary Care Physician. A Primary Care Provider (PCP) should be someone you are comfortable with on a long-term basis, someone you can trust, someone you respect, someone who respects you, someone with a good soul, and someone who provides excellent support when you really need it. Like your hiking shoes, your PCP should be an essential part of every mountain climbing adventure. It can take awhile to find the right PCP fit for your personality type and health situation. Keep shopping until the shoe fits!
The other 19 types of “shoes” in my closet represent the other 8 specially trained physicians. A specific physician is required for each specialized health situation. Like choosing hiking shoes or dress heals for a black tie cocktail party. Everything has a place. So… if my dress heals look really nice but hurt my feet terribly, I will wear them for the occasion. Just like the really smart specialist who lacks bedside manner. I need the ability of the specialist to reach my wellness goal, so I am willing to endure the pain in my… foot to feel better in the long-run.

Trusted Companions: Friends, Family, Spiritual Group, Pets… Feeling Cared For

Hiking alone is dangerous. It is always safer and more fulfilling with a good companion. This one can be tricky. I am the type of person who is more comfortable with a few close friends that are long-term yet do not require a great deal of daily time investment. Quality time is valued over quantity. I prefer the privacy of sharing personal events with one or two of my closest family members or friends. Longer “health hikes” can be very draining and sometimes require an infusion of new energy on the trail. I guess what I mean is that sometimes I can sense when I need to stop relying on one companion, let them rest for awhile and seek my support elsewhere. Some of my alternate support network consists of: church peers, once a month coffee shop get-togethers, Pet Therapy with my 9 pound Silky Terrier Trinket, Internet support groups, and journaling. I also find that telephoning people that I haven’t talked to in a long while provides a temporary reprieve from my own situation by actively listening to their life updates. Providing direct patient care as a nurse is also a therapeutic technique that I use to take my attention off my own struggles and focus on the struggles of others.
Everyone’s trail will come to an end eventually. Ending alone by myself would really make me sad. I try to model the type of “through thick and thin” true companionship that I hope to receive throughout the trail of life.

Back Pack: Your personal health Record to carry all of your medical information

Much of my nursing experience from 1994 through 2010 has been providing Comprehensive Medical Case Management and Health Education. The problem is that I have always found it much easier to take care of someone else than it is to take care of myself. I am learning to be a good self-advocate. I am learning to keep thorough records and initiate evidenced-based discussions. I am also learning to research possible connections related to health systems, functions and dysfunctions. When you have 5 to 15 minutes with the physician you learn to make the most of every minute!

Keeping a “Personal Health Record” divided into sections (test results, research, and history) has been a terrific “Backpack” to organize and carry my information “necessities” whenever I go “Health Hiking” or “Medical Mountain Climbing”. Inevitably with several physicians communication decreases exponentially with each new physician added to the team. I get and keep copies of all medical tests related to my health. Almost every appointment that I go to my copies are needed because the physician has not received a copy of his or her own. Carrying my own copies saves time, provides necessary health information and makes the most out of each physician evaluation.

Remember the more efficiently packed the backpack, holding all “Medical Mountain Climbing” necessities (in this case health information) the easier the hike!

Map/ Atlas: Computer/ Library (scholarly research & reputable sites)

A map shows you where you are, where you want to go and various routes to get from one place to the other. A map also has an interpretive key. Researching individual health conditions can be like buying a “Health Hiking Map”. Identifying individual signs and symptoms is the first step in using the “Health Hiking Map” of research. Signs and symptoms include objective and subjective data. Things that can be measured via visual inspection (like a rash), physical touch (like a lump), auscultation (abnormal heart sound), or medical testing (high cholesterol), as well as things only you can feel (like nausea).

Good research sources include: physicians, public libraries, hospital libraries, college libraries, scholarly journals and reputable Internet sites.

Once you know where you are on the map of wellness, you can identify where you want to be, then figure out which path to take to get there. For example: For three years I was trapped in a downward spiral of increasing fatigue, recurrent illnesses, and an ice eating addiction that had me eating six to ten freezer trays of ice a day. I felt miserable (point A). I wanted to improve my energy, increase the strength of my immune system and go for two hours without chewing on ice. I wanted a better quality of life (point B). I needed to find a map to assist me in my “hike” from point A to point B.

Independent Research, Integrated Medicine Practitioners, Traditional Medical Doctors, Peers, Family, Friends, and a lot of 4am talks with God have brought me much closer to point B. 8 weeks of intravenous Ferritin, corrected my iron deficiency. I no longer crave ice.
I have been diagnosed with Acute Intermittent Porphyria, a genetically inherited disease. I have several nutritional deficits with an undetermined cause.
I am post menopausal due to a complete hysterectomy.
I have chronic autoimmune thyroiditis with nodules.
These diagnoses provide me the necessary key to read my customized wellness map. Understanding the basis for my signs and symptoms has helped me modify my lifestyle path from point to point, including the following: stress management plan, diet plan, medical management plan, career plan, financial plan, family plan etc.

A Journal: to help you through your journey

My journal is my journey’s record. I chose to explore my feelings, document my happenings and paint my visions of life’s journey. I choose to journal. I choose to record my journeys. I choose to learn from my experiences.

My “life lens” is becoming clearer as I age, while my actual vision declines.

Compass: perspective, attitude, moral direction

At times the journey of life can be compared to climbing Mt. Everest in a pair of summer flip-flops. Then at other times life can be as calming as an evening walk on the beach. Intermittent mental-emotional compass recalibrations are necessary to navigate through life’s rough terrain.

In Summary

I hope the story of my journey is helpful!

My Health/Nursing Perspective

Writer Credentials: T.Suzanne Jaynes RN, BSN CM/HE

Professional Resume'

My Goal is to Empower

“I provide high quality skilled nursing services based on education,
experience & insight.”

My Qualifications

Registered Nurse- 16yrs
RN State Licensure (MD & NY)
15 Graduate Credits in Nursing & Education
Bachelor of Science in Nursing
Advanced Train the Trainer Certified
Associate Degree in Social Sciences
Associate Degree in Nursing
RN Case Manager- 13yrs
American Heart Assoc. BLS Instructor CPR- 4yrs
Maryland Certified Nursing Assistant Instructor- 6yrs
Maryland Developmental Disabilities Admin. Certified Medication Technician Instructor- 9yrs
Maryland Assisted Living Certified Medication Technician Instructor – 2yrs
Maryland Certified Medication Aide Instructor- 1yr


Patient Care Coordinator-
(3.2010- Present)(Part-time/Job-Share Patient Care Management primarily located in the Emergency Department. Utilization Review, Insurance related Clinical Liaison duties)

Nurse Educator-
(3.2010-Present)(Community College Adjunct Allied Health Instructor for Certified Medication Aide, Certified Nursing Assistant & Other Programs as Needed)
(1.2007-Present)(Hospital-Based PRN American Heart Association BLS CPR Instructor)

Nurse Entrepreneur-
(4.04-Present)(Developmental Disabilities & Assisted Living Provider Agency Clinical Instruction-Staff Development, Medical Case Mgmt & Clinical Care- Contractual Service Provision)

Director of Staff Development
(9.05- 4.07)(State Healthcare Facility, Independently designed, initiated and presented a new “in-facility” CNA/GNA program)(Designed and implemented a new computer lab for staff development training)

Director of Nursing/Director of Nursing Education
(1.01- 4.04)(Developmental Disabilities Community-Based Provider Agency, Provided nursing case management, staff/patient education & clinical supervision under multiple waiver programs: DDA, Adults w/Physical Disabilities, Aging & “Health Care @ Home” caregiver education grant – 9 county service area)

Patient Care Coordinator
(10.99- 1.01)(Home Health Care, Acted in a liaison role, assuring quality care coverage between all agency clinical care providers and homecare patients, OT, PT, ST and NU)

Homecare Nurse/Pt Educator
(6.97- 10.99)(Direct clinical care provider, nursing case manager, patient/family nurse educator)

Visiting Nurse/Private Duty
(1.96- 5.97)(Direct clinical care provider & patient/family nurse educator)

Office Nurse/Family Liaison
(9.94- 1.96)(MD: Family: Pt liaison, direct care provider, telephone triage, patient/family nurse educator)

Monday, July 12, 2010

The Plan

AIP Blog Plan
Population Served:
Individuals with AIP; Medical Providers; Friends, Family and Co-workers related to individuals with AIP
The goal is to openly share my experiences, research and resources with the sole purpose of empowering others to optimize their individual situations.
-I plan to present relevant background information (Personal, Professional & AIP disease specific) from July to September 2010.
-On September 17th 2010 I will begin daily web log entries using a consistent presentation format. I will specifically focus on: Long-Term AIP Health Management Strategies.
-On September 17th 2011 I will evaluate the project and provide relevant feedback.
Anticipated Challenges:
-Posting Every Day may be unrealistic and post length will vary. "Life with AIP" may create some “gaps” in daily continuity, but summaries will be posted to bring the "the gaps together".

Diagnosis: Acute Intermittent Porphyria

On September 17th 2008, at age 38, I was officially diagnosed with Acute Intermittent Porphyria by Dr. H. Bonkovsky at Carolinas Medical Center. The Geneticists at Mount Sinai say I have, “a missense mutation, R116Q in one of my HMB-synthase alles”.
My exterior looks just as non-descript as the next female human. I am void of any obvious physical deformity, yet plagued by an internal environment that parallels some of the world’s worst electrical storms. Often, I have tried to reach out to others, only to be hurt by their lack of understanding. How can people support that which they cannot see or understand? They doubt my story’s validity. I am offered counseling or psychiatric pharmaceuticals. Acquaintances loose investment in the relationship and move on.
As a young girl my internal turbulence would manifest itself in a variety of ways.
- I would have nightmares, waking to a rapid heart beat and a brow drenched in sweat. In my dreams I was haunted by a terrible being that trapped me, frightened me and inflicted horrible pain on me. The most disturbing part of my dream was that when I tried to cry out for help… my voice was mute! I can remember clutching my bible to my heart and praying for protection against the demon as I tried to return to sleep.
- I have always been intellectually driven yet emotionally and physically inconsistent at best. My menstrual cycle began at age 10 and resurrected a premenstrual personality in me that could easily rival “Mr. Hyde” at his worst. Everything was uncomfortable, everyone was irritating, I would get chronic urinary tract infections (UTI), and my bowels would cease to function properly. I was miserable to say the least!
- My family tried to address my situation the best way that they knew how. I went to doctors who prescribed medications that made me feel even worse: birth control pills to “even out” my female cycle; sulfa drugs to treat the UTIs; anti-anxiety drugs, for my nerves; antidepressant drugs, for my moodiness; sleeping pills; and more. When I continued to complain the physicians told my parents I was just being a “difficult youth”.
My adult years continued down the same path. I would experience intermittent internal tsunamis without external validation. I remained that terrified little girl controlled and muted by the demon within.
In 2002 my husband and I visited an Endocrinologist Specializing in the Invitro-fertilization process. For the next year I fueled my “internal demon” with hormones, daily injections, pills and insertable creams. I developed Ovarian Hyper-Stimulation Syndrome. I became more miserable than I had ever been in my life!
From 2002 through 2008 I stayed chronically unwell and continued to take medically prescribed drugs that only made it worse. The brief reprieves I used to enjoy became a thing of the past. I became more and more eroded until I said ENOUGH!!! I AM a Registered Nurse and I KNOW that there is something wrong with the way my body functions.
It became my independent mission to “expose my demon” and take back my voice! I took note of every symptom. I gathered copies of every medical test within 5 years; I requested a running ledger of all prescriptions that I had filled at my pharmacy over a 3 year period. I stayed up many nights re-reading my old nursing text books and searching the web. I made connections. My connections led me to the American Porphyria Foundation web site. Cinderella found her slipper!!! And her VOICE!!! I contacted Dr. Anderson who referred me to Dr. Bonkovsky. My demon’s name is Acute Porphyria.
Even now that my demon has been exposed and I have my voice back, the journey continues to be challenging. Medical professionals are not familiar with Acute Porphyria. They have obvious difficulty digesting information offered by a patient. My Porphyria Demon is so tricky! Even though I took my voice back, when I try to communicate the language is foreign and unrecognizable to the majority of people. I remain primarily independent/ alone and isolated related to my Porphyria medical case management.

Boy do I get frustrated sharing my body and my life with Porphyria!

I have recently decided to try immersing myself in an atmosphere of people who understand the distorted language of Porphyria (American Porphyria Foundation). I hope to gain more control over Porphyria by learning everything that I possibly can about it. Then take even more of its negative power away by teaching others like me to do the same!
Professionally, I am a Registered Nurse Specializing in Medical Case Management and Health Education. Some days, nervous system corrosion makes physical movement painful and mental focus foggy but my will to persevere is strong. As a Registered Nurse I understand how disease affects the mind and body. As a person with Acute Porphyria, I have personal experience interpreting what it is like to live with a chronic disease and how living with a chronic rare disease effects even the most casual everyday life situations. As a Medical Case Manager and Nurse Educator I have the opportunity to decode challenging communication barriers “dis-empowering disease” and effectively empowering those affected by disease, beginning with Acute Porphyria.