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Friday, September 28, 2012

A Story About Aletta Longari & VP..



Some see what they lost; I see what I gained.
Like a typical youngster, I rolled my eyes when my mom gave me 'that look' and say; "Jy moet youself laat toets my kind! Van lekker lag kom lekker huil." (Translated: "You have to get yourself tested, my child! From too much laughter, comes crying.")
I  grew up in a loving home, with a mother that was a retired nurse with a passion for the medical field, and a relentless urge to help people around her.  My father loved teaching, literature, fishing, rugby and a Sunday braai (barbeque) with friends.  I also knew he had a blood condition, that made him sick if he eats spinach, or drinks the wrong medicine; he wore gloves when driving when he was younger and my mom was very proud that she nursed him back to health. I remember him spending a lot of time sleeping, or spending time in his garage that was filled with tools, benches, a desk, books, a fridge and every other wonder to keep an inquisitive mind and restless body busy. 
I remember him taking me fishing.  My mom faffed nervously around for days before the expedition to Hartbeespoort Dam to get everything perfect: lots of food, a medicine bag, frozen water in plastic water bottles, only 2 beers, hats, umbrella’s, and a promise of a death in the family if he gets sunburned! (Today I wonder if she gave him a speech or a warning of rather killing him herself, than trying to live with him while in a Porphyria attack)
I finished school a few days before my 18th birthday, and was full of hope that my new life will be everything my teenage years in high school wasn’t, as it was riddled with depression, failure, pain and being convinced I have cancer and that I am busy dying. 
Suffering fatigue, trying to keep up with those around you, having to hear how lazy you are, and being suicidal at such a young age can really do a number on a young girl.  I grew up in a very religious home, with strict guidelines, and parents that were much older than average. I never felt comfortable to voice my concerns not to mention thoughts to them.  Being a parent of 2 teens today, I wish I did come clean with them and feel great remorse in finding them unapproachable.  My pride, fear for being judged and simple teenage ignorance kept me from the help I needed. 
I’m sure my folks saw the signs in me when I hit puberty, but going to a boarding school 2 hours away from our new retirement home on the South Coast kept them only guessing.  While they adjusted to coastal life and sharing the kitchen, I faced a whole new kind of hell.  I was a 16-year-old girl; with new friends, new school and the only adult supervision was a young hostel mother that I only saw once in a blue moon.  My grades were average, I was well received and although I could not keep up with sport, I looked fit and healthy. 
Little did anybody know, and I would’ve been mortified if anybody found out; what strange things my body started doing. Debilitating headaches, and flank aches, constant nausea, fatigue, dizziness, anxiety, an itchy forehead, and depression made up for an average day.  When lying in my single bed at night, between 12 other girls, my body would jerk and contract as if an electric current is sent through me and I will wake up gasping for air! 
It goes without saying that I was scared to go to bed, and despised waking up.  My soap and water beauty was no match to what I looked like inside and at age 17 my outer beauty also failed me when I began having ugly sores on my hands that became septic, took months to heal and left purple scars.  I was in a constant state being sick, and the only thing that stopped me from making a bigger effort to act on my inner-thoughts, were the pain I knew I would inflicted on my parents.
At age 18 I set my sights on the big city with bright lights, with dreams of becoming successful, rich and independent. Although I did not know what I wanted to do, I knew I wasn’t ready to study.  I got myself a job in Pretoria as a sales lady in a high-end jewellery store, and soon my artistic nature became consumed by designing jewellery.
Again, I find myself alone and trying to live the life as an adult while thinking like a child.  What I thought and felt during school days, was no comparison to the 3ed chapter in my life.  Too much responsibility, cheating boyfriend, bills to pay, bosses to please, and the lifestyle of a “let’s-party-kinda-girl”, I soon felt the wrath of my not-yet-diagnosed Porphyria, when being aggravated. Stress, lack of sleep, alcohol, poor diet and too much sun turned my life into a misery.  The worse I felt, the harder I partied.  The harder I partied, the worse I felt.  I was convinced more than ever that I was dying with cancer, and that I was bi-polar.  My dreams were shattered.
I was 20 years old, when I woke up with a toothache.  I went to work and booked a dentist appointment during my lunch hour.  Thirty minutes after a route canal, I started loosing control in all sorts of ways.  My security guard, Jerry took one look at me, and said: “mam, you’re in trouble”, and got on the phone to the company MD.  I could not hold the phone, sit upright, or talk.  I clenched my teeth so hard that I could hear my teeth grind. I tried to talk, but the words did not come out; instead I drooled and could not control my motor skills to wipe myself clean. The pain was blinding.  Jerry walked me home, gave me medicine and called my mom.  I think it is important to mention that Jerry was a big black Xhosa man that turned out to be guardian angel in days where racism in South Africa was at its peak. Jerry taught me that all I have to do is stop pretending and ask for help, anywhere, any place.  In desperate times, there is no room for pride. 
This was the day when my mom once again promised death to a family member if I did go to test myself for Porphyria.
I tested myself at age 21.  Those days the medical profession were still very uneducated when it came to Porphyria, and doctors new very little about it.  The tests came back 100% positive.  With the news, my doctor opened his drawer, whilst saying: “take one of these every morning and go to gym” and threw a box of tablets over the table.  I asked him what it was, and while standing up to lead me out of the room, he said “anti-depressants, and oh yes; you will have to get yourself a medical aid bracelet”.  He opened the door, and ushered me out.  “Thank you doctor, good buy”. ………..The name of the tablets was “Anafranil”.
I was alone at home that night, and something kept on nagging me.  Also, something that my mother always said kept milling in my head: “always take half of the prescribed dose…you never know”.  I took half of an Anafrianil, and again my world spiral out of control within 30 minutes. 
My third full-blown Porphyria attack was triggered by a bout of flu.  The nearest doctor available was a doctor that had his surgery in the same shopping mall where I worked.  Jerry made me an appointment, and when it was time, I locked the store, and snuck away to get a prescription for my persistent cough.  After filling in the patient information sheet, the secretary excused herself, and disappeared to the back.  Next thing I know, the doctor stood in front of me, with a smile from ear to ear, and I could have sworn he tripled with excitement!  It turned out that he was a Geneticist, and was busy writing a research paper on Porphyria!  Best day of my life, right? ....Wrong! 
After answering a string of questions, having to listen to a long debate with the pharmacist downstairs, and getting a drawn-out explanation why I’m prescribed a mixed coughing syrup, and lying through my teeth why I took and hour to go to the bathroom, Jerry finally came back with the medicine.  I took a swig, and knew immediately that it was a mistake.  Thirty minutes later, yes you guessed it; Jerry said:  “man, you don’t look good”……..
I lost my job because of Porphyria.  For those that wants to know what the Geneticist had to say….. his words, not mine:  “……. oh, shit!”
And so my new life as a Porphyric finally sunk in:
 My lesson 1: “Never take medicine without a second opinion!” 
 My lesson 2:  “Choose a trustworthy person to act as your guardian
to think, speak and run errands for you when you can’t”.   
                 (I refer to this said person as a “watcher”)

Dealing with a diagnosis leaves us on an emotional journey:
The stunned and in shock stage. We ask ourselves: “can it be true” and we even ask: “are you sure?”
The confusing state of what to do and/or what not to do, and trying to figure out how “it actually all works”.
The stage where we realize that the information out there is too much to take in, and we have triggers are all around us, we start to fear that we might not get on top of this battle.  This emotion expands to the acknowledgment that we “will always feel ill” and “can indeed die” because of these triggers and/of wrongful treatment.
When we are done dealing with our fears, our fight / flight instinct kicks in, and when it comes to survival, we will fight.  The angry stage features were we wonder “why me” and “I will not allow this to ruin my life”.
When we realise that this is our reality, and there is nothing to do to change your fait, the frustrating stage seeps in, and leaves you feeling like a trapped animal.  Porphyrics have no room for impulsiveness.  Everything has to be investigated as a possible trigger.  Experience comes with trail and error, and usually “error” can be a very unpleasant experience.
When we realize that we “will never live a normal life” and our loved ones “don’t know what we have to go through”, and overwhelming feeling of hopelessness wash over a Porphyric.  Like a wounded animal fighting for his territory to the point of exhaustion, and just lying in the long grass panting, wondering where to go from here…… that is best to describe it.
Stage 7 is where it became scary to me. 
When we realize that we have to be “labelled”
When someone that “has no idea what your world is like” has to “look after us, because we cannot always look after ourselves”,
When “loosing our minds” is a definite reality, and
The medical profession is not yet equipped enough to deal with our illness.
These are all factors that make Porphyrics realize that we do not have control over ourselves.  That feeling of not being able to trust our judgement or choices leaves us being strangers to ourselves.  Something happens inside a person when we cannot trust our world around us, and we cannot trust ourselves.  We go and hide.
Soon loneliness will set in, and we feel that we are “outcasts” and “different”.  We start to think anti-social, and we start to distance ourselves from “normal” people.  Even if we do want to join in group- activities, we often just cannot do so.  May it because some of us cannot go in the sun, we cannot drink alcohol, we get tired quickly, we cannot trust the consequences of our actions, or we are simply just too ill.
You take normal life from a person and you make him/her live alone, and depression will soon set in. Porphyrics has a double-edged sword, as depression is not only a challenge to overcome emotionally, but first and foremost is a physical issue. Porphyrics needs an unwavering support system at this point, and cannot be left alone for too long.
Once we overcome the first stages of being diagnosed we start the grieving process of what we lost, what we will never have, and what our lives will be like. Grief is the normal process of reacting to the loss.  A Grief counselor can do wonders and comes highly recommended.
With loss comes mourning.  Mourning is the process by which people adapt to a loss.  When we loose a loved one, we have ceremonies, we say prayers, we burn candles, have wakes, we cry together, and we hold each other, we give each other words of strength and encouragement, we help each other financially with the burial costs, and we check up on each other to make sure we are ok, and if we need anything…may it be a meal, a errand or a hug.  When diagnosed with chronic illness, we loose our lives, as we know it! The mourning process can only start with the right medical treatment and unwavering support of loved ones. 

My lesson no 3: “If a Porphyric don’t have a steady support system by
stage 7, then a he/she should find one, may it be through a church, a
book-club, a website, a facebook page, a distant cousin or even the
security guard at work!”

There comes a time when the only stage left is acceptance.  This is the time when we make lists, share and compare. We seek others out, and realise that we are not alone!  That feeling that you just discovered a whole new world with your “kind” is powerful.  Slowly we will find peace that we do indeed have a place in this world, and that there are people out there that loves you just as you are.  When peace comes, it is easier to talk about your disability, and family and friends will even found strength in yours.

Lesson 4:  “The 12 emotional stages in diagnosis never ends, it is a cycle.
May it be a health scare, having to have your own children tested, loss of a fellow Porphyric, or just life pushing you to re-evaluate:  you will be challenged by the cycle again and again.

I was forced to start my own business after loosing my job.  My health issues became so suspicious that the MD moved me from the branch that I managed in town, to the main branch in the more upper-class suburbia, but after not being able to “pull myself together” I was forced to resign.

I was given an opportunity to learn how to do artificial nails, work for a lovely lady and also rent a room from her.
At age 22, I found myself loving my new job, but still something felt wrong. 

One summer afternoon I ran across the road, up the stairs to the ladies room, when I bumped into an ex-employee that I got to know at my old jewellery company.  He worked as a goldsmith in the main branch, and often opted to drive me home when I became too ill to work.  Did I mention he was the most beautiful man I ever laid eyes on? When I resigned, he left shortly after to start his own workshop, and we ended up working across the road from each other!  His name was Roberto, but we used to call him Roby and yes, he is devastatingly Italian.  Did I mention I had a huge crush on him while working together?  The one time Roby asked me out, I felt too ill to even invite him in for coffee, and sadly declined.  After that day, almost everything felt right.  We instantly became friends, and got married a year later!  Never did I know a person to love so intensely, accept my shortcomings without having to think about it, and give so much that it is more than his whole heart.

During our earlier years we had times where he nearly nursed me to death (literally), and other times wanted to kill me.  Porphyria again stuck its ugly head out, and this time my beautiful Roby paid the price with me!  The guilt was not overwhelming yet, as I was too busy being happy and in love.

The end of that year I gave birth to a healthy boy, and although not feeling my Porphyria being present whilst pregnant, I quickly started showing signs of,……..how did Jerry put it?: “mam, you’re in trouble”! 

Lack of sleep, stress of being a first time mom with a boy that just did not sleep, back at work again with unsavoury chemicals, and getting used to fitting in as an outsider (again) with an feisty Italian family, a new widower father-in-law lives with us while we both have our businesses at home……

5 Months after Longari Jnr. was born, we packed up and moved to Cape Town to be closer to my parents (father-in-law-and-all).  I was in trouble indeed, and besides the headaches, fatigue, anaemia and pain, the depression and brain fog was the biggest battle.  Diagnosed with post-natal depression, live goes on till I broke down 11 months later.  By this time Roby must have asked himself what the hell he got himself into, and how the hell is he going to fix it.  We moved into our own home:  now change.  I got a part-time job to “get out”:  no change.  I go on anti-depressants:  no change.  We put Antonio into day-care for 3 mornings a week: no change.  I start my own business: no change.  Roby loves me more: no change.

In 1999 I found out that we are pregnant again. Instead of being excited, I am instantly mortified! 
With the hell we went through the first time, and me being such a “bad mother”, how can I do this to two children?
By this time Antonio is 4 years old, and between him and Roby I made everyone miserable, including the cat!

Thanks to the support of 2 dear friends, my mom and dad and my cousin, I accepted my fate and became a happy and at times, and healthy pregnant woman. 

Luca was born in the same year, and to try and make this pregnancy completely different from the first, I had a selective caesarean and bottle-fed.  By then the patient info sheets acknowledged Porphyria as a severe allergy, and I could just make a tick-mark in the block next to the name!

Besides being on a Morphine drip, and high as a kite (for the lack of other options), I was happy and convinced that I turned a corner.  We are going to be a happy family and I’m going to be mom of the year!  Wrong again!

My lesson 5:  “What comes up, must come down”.  I find it takes a lot
of energy to be happy.  For me even if it comes naturally, it takes so
much out of me, that I find that I will break down somewhere along
the way, and be very low, even depressed.  Porphyrics often are
misdiagnosed with bi-polar for their mood swings and suddern bouts of depression.  Porphyrics are know to be unbalanced, but I also like to think that when we have the chance to “let our hair down”, we do so in excess!  The simple reason for this is that it feels so good, and we miss it.”

I was worse than ever!  Added life stresses, Roby being disinherited because of me saying the wrong thing at the wrong person, financial stress and a employer that abuses Roby to no end, I could do well was beating myself up, and do exceptional well is screaming at my boys… Again Jerry’s words ring in my ears: “mam, you don’t look good”

My lesson 6:  When being a Porphyric, watch what you say! Never
say something on impulse.  We are often misunderstood, and more
than often say it as it is.  Loved ones will get hurt and others might
use it against you.

My lesson 7:  When you are broken, your loved ones are hurting. 
I cannot stress enough how important it is for Porphyrics to have their
family as a support system!  This statement is especially aimed to the
extended family, as often the spouse and children are overwhelmed
and bewildered. We relay heavily in moms, dads, brothers, sisters,
cousins, aunts, uncles and grandparents.

How I wish to take those days back. 
I asked myself:  “how does Roby stay with me, and what keeps him close?”  Today, after 18 years, I still ask myself the same question, with a slight difference: ….more guilt. 

My lesson 8: Hold on to those loved ones that stick with you!  Make
               a point of it to reach out to them, and thank them for
               being in your life.

My mother was diagnosed with colon cancer in 2002.  Antonio is 5, Luca almost 2, and cannot hold myself together, leave alone a steady job.  Somehow I get by, and with Roby as my ‘emotional rock’, I do the best I can,
which is not nearly good enough for my own liking, not to mention those around me, especially my extended family that took full advantage to slander me when I didn’t have the energy nor clarity of mind to fight back.

To add fuel to the fire, I started a Surf Lifesaving Club in our community with 49 members, of which 50% were underprivileged kids!  Why?  To make me forget, to make me feel useful, simply just to do good.  As much goodness we created with the club; that is how much bad it did my health.  Sitting on the beach in mid-summer, often just with an umbrella, working late nights, and all the other wonderful stresses running a NPO sure did a number on me.  Roby was furious, and stood in the car park many Sundays shouting: “Love! Get out of the sun!”

My lesson 9: “Often Porphyrics will go into overdrive when they can
get into something.  They are often obsessive compulsive, and
will work themselves to a standstill when they can, for the simple
reason that we have so much to prove, we feel we are in dept, and
we try to get maximum effect through our efforts, for we don’t know
when/if we can do so again.  Porphyrics needs to pace themselves!”

After 8 years of looking after my folks as best I could, and in-laws that caused more stress than love in our lives, and a flourishing club that turned into a full-time job, I was left with 4 funerals in 18 months!  I was living on adrenalin, and when I wasn’t making lists, shopping, waiting in line, or driving taxi; I was laying down with clenched teeth and praying to make me hold out until my folks were gone.  The stress that I endured left me in a permanent state of being ill and knew that it would leave scars.  I lived for my two suns, and I fought not to disappoint my dear Roby, whom stood by me even when he sometimes couldn’t watch how I go into self-destruct.
How did I do it?  By showing unconditional love, not let fear alter my thankfulness, and making lots of lists!
It is incredible how our views and priorities change when you know that time is waisting away.

My lesson 10:  ““In order for healing to begin, we must create order in chaos”-Dr. Oz

I am currently still under supervision of a specialist, and the battle to get my Variegate Porphyria under control still continues.  My sons will be tested soon and every day I plot how to make 18 years of unwavering support and love up to Roby.  I still life have my dark days, but black comes in many shades.  With the right doctor I could determine that Porphyria was not the main culprit of my deteriorating state, and that it was triggered by inflammation and chronic Bilharzia!

My lesson 11:  “Do not stare yourself blind against your Porphyria. 
                 Often it will flare up in defence rather than an offence.

How did Porphyria affect my life? 

Personally; I lost my self-worth and confidence and guilt is an overwhelming reality.
Spiritually; I lost my creativity and my passion and lived in self-conviction of “being cursed”.
Romantically; I lost simple moments to make lifelong memories that I could never re-claim.
Socially; I lost the respect of many through the years, and still have to tolerate naïve comments.
Physically; I lost my strength and became all I feared, such as being fat and full of scars.
Finically; I lost jobs, business, and still loose clients.  Lack of money is a constant worry.

Much were lost, but what we should ask is what were gained.

Experience that left me with a deep appreciation for life and left me with an understanding to treat
others the way I want to be treated. 
My curse brought the gift to help others and that in it self became a blessing.
I see beauty in everything around me and by celebrating it, it stills my fears. 
I gained compassion and patience for the matters that matter.
Above and beyond all else, I gained my self-worth back by sharing my story, and realize that all has purpose, nothing is right, and that is alright with me.

Saturday, September 22, 2012

The FDA Safety and Innovation Act! What you need to Know!

                                                              The FDA Safety and Innovation Act 

...was signed this week thanks to the APF and other Rare Disease Organizations. 

This is a monumental step toward the development of safe and effective treatments for millions of Americans with rare diseases. Specific to the rare disease community, the Act provides the following:
accelerated patient access to new medical treatments
the development of Humanitarian Use Devices (medical devices for small patient populations)
accelerated development of "breakthrough therapies" -- those that show early promise
enhanced FDA consultation with rare disease medical experts
a rare pediatric disease priority review voucher incentive program
resolution of conflict-of-interest issues that kept voices of rare disease medical experts from being heard
This contains the most groundbreaking measures for rare disease patients and their families since the Orphan Drug Act of 1983. This legislation represents great progress for people with rare diseases, who often struggle to access treatments for their particular disorder, like porphyria. APF Executive Director, Desiree Lyon Howe, said about the new act, "Our thirty years as advocates enabled the APF to identify and articulate the unique needs of people with rare diseases for interested legislators." Desiree was one of the pioneers and supporters of the Orphan Drug Act and has been involved in rare disease legislation for 30 years.

Remember.... Research is the key to your cure!

Thursday, September 13, 2012

How can you show your support for the American Porphyria Foundation for such causes as "Protect the Future" or Research Programs?

How can you show your support for the American Porphyria Foundation for such causes as  "Protect the Future" or Research Programs?

Look at how people have helped show there support to the APF.  Why we need you and how you can help.  Look at these past ideas and upcoming events!  Are you ready to show your support?  We need to train good Doctors, we think of all the support and the many efforts the APF does for us how can we show our appreciation lets give back!

Just take a moment to reflect on all these important Fundraisers:

Desiree Lyons did a Pet beauty contest many joined with there pets to raise money for the APF.

Rob Saupe has walked over 100 miles on foot to raises awareness for EPP! He has raised so much awareness and had many donations come in to support his walk!

Amy Chapman enjoyed selling the wristbands that can still be bought and has sold over 400 wristbands and raised over 1300.00$ 

Please call the APF @ 866-APF-3635 if you want to raise awareness and support funding for these programs.

These are just a few ideas & ways to show your support and appreciation for the APF!
Now, look at this upcoming event:


My name is Dan Yelen. I am 23, going on 24, and I play for the Chicago Heretics in a paintball league. I've been with them since their beginning in 2007. In my life I have done some very interesting things, including TV appearances with th
e Heretics. As a team we've received a Bob Long sponsorship that got us our own private label victories. I've written for Facefull Magazine, toured with Styx working as a roadie, and met many rock and roll celebrities through that opportunity. I've worked Bonnaroo and filmed some of the biggest up and coming artists this year. Yet the thing I am most proud of is my work for the American Porphyria Foundation. You see, I have Acute Intermittent Porphyria, one of eight forms of Porphyria.

For me and my form of the disease, it stems from my liver. It causes me intermittent bouts of extreme pain in my abdominal region, limb numbness, fatigue, delusions, and other symptoms. It is a hereditary disease that I received from my mother, who suffers from it worse than I do. She receives treatment monthly with Panhematin, which is infused via chest port. It is the only treatment for acute porphyrias. This drug, Panhematin, is the reason I've been back and forth to Washington D.C. meeting with Senators defending it's production and the rest of the drugs listed under the Orphan Drug Act.

Because this is a rare, hereditary disease, all funding for the disease's research and public awareness comes mostly from the pockets of private donors.

Funds are limited for the foundation, so, I have taken upon myself to ask for assistance from the paintball industry, the industry I know and love.

Please join me November 4, 2012 in East Dundee, Illinois at Paintball Explosion held at paintball field, for a Fundraising Event designed for the fun of new, as well as experienced players. Portions of the entry fees and paint sales will go to the American Porphyria Foundation, as well as funds raised through the items we will be raffling away at the event. This game will be for fun, of course, and I encourage you all to have as much fun as you can with your family and friends. Bring your brothers, sisters, husbands and wives. Since porphyria runs in the family everyone in the family can participate. We hope to introduce new players to the game, welcome them, and teach them all about this game we love while trying to end the disease that has stricken my family, as well as thousands of others.

Thank you, and I hope to see you in November.

Dan "Leech" Yelen

Thank you Dan and all of you who help the APF!