Friday, December 14, 2018

The Porphyria story of Victor LaFae with HCP

Porphyria story - HCP - Victor LaFae
I’m told that I was a typical happy baby for the first few months of my life. I reached all my milestones on time or even a little bit early. It was not until I was three months old that something seemed amiss. One Saturday afternoon in mid-July 1993 while my father was at work my mother decided to take me and my older sister out to a park and to run some errands. My sister ran around the park having a blast for a couple of hours while my mother sat in on a bench with me partially shaded by a large oak tree. As the sun began to set my sister was called from the playground and my mother began the walk to the grocery store. I was getting fussy, and she assumed that I was tired and ready to eat and sleep.

About halfway to the store, I let out a screeching noise. Thinking I must have been bitten by a spider or stung by a bee my mother stopped to shake out my blanket and check me over for bites. She found nothing to explain my screaming cry. When I could not be comforted my mother grew more and more concerned. That night we ended up sitting in a hospital for several hours. The doctors ran blood tests and found nothing unusual. They told my mother that I was a colicky baby and that I would outgrow it. Not having raised a colicky child before, my parents grudgingly accepted the doctors' diagnosis and took me home.

A few weeks went by and I continued to scream and cry every time my mother tried to take me out of the house. It was the start of August and my older sister was getting sick of being cooped up at home. So, I was taken to the park to let my sister play. My mother decided that perhaps I just needed to cry it out as she sat under the oak tree talking with another mother whose child was off playing with my sister. When the other woman inquired about my cries, my mother told her I was just colicky. “That is not a colicky baby! My boy was colicky,” the mother declared. As if to prove the woman's point, I began having my first of many seizures.

I only seized for a moment or two, but it was enough to have my mother rush off to the ER. The doctors again did blood work and asked many questions. They found nothing to explain the seizure. They told her that I was colicky and that I was likely just trembling from having exhausted myself crying. Over the next few months, things would spiral out of control with new and more bizarre symptoms popping up every few days. Each symptom dismissed and my mother became known as the over dramatic nervous mother. With each new visit to the ER, the doctors took my mother less seriously than the last.

I became lethargic. My arms and legs that had once danced around lay limp at my side. I stopped trying to nurse and spit up anything my mother managed to get into me. My weight decreased until I was not even on the growth curve. I didn’t react to the things I once loved, like peek a boo. I developed tremors and muscle twitches, small blisters, and dark urine. My mother was told again that it was all from being a colicky baby, I was probably dehydrated, and that the blisters were from the laundry soap. This went on for a few years. Slowly some of the symptoms cleared up and so my parents believed that perhaps the doctors had been right.

At around 4 years old, the first signs of my Autism became clear, and I was later diagnosed with Asperger's syndrome. I was minimally communicative which meant I could not explain my own symptoms to the doctors or to my parents. I would only cry when forced outside. I could not explain the burning pain or the itching. My stomach felt like a hot sword was being twisted around in my gut, but I didn’t have the words to tell anyone. My heart would beat so hard and fast I was afraid it would burst out of my chest.

I remember so clearly the exams. Every few months, scopes were shoved up one end or down the other as they looked for things like appendicitis and ulcers. My mother was told that with my autism it was hard to really tell why I was having so many meltdowns and that I was likely overstimulated. This is common for autistic children, so she needn’t worry. I developed dizziness and began having regular falls. My coordination declined dramatically, I started dropping things and running into walls. This clumsiness was also attributed to my autism and my mother's concerns dismissed.

When I was 10 years old, I had visual hallucinations of red lights sliding around on the walls. I could hear ripping metal like a car being crushed by a compactor and the sound of electric sparks echoing in my head. The pain was back like my insides were being ripped out. The best way I could explain this terrifying and painful experience to the doctors was to say, “The demon eyes are hurting my belly and heart.” This led to a 72-hour psychiatric hold on the pediatric psych unit. After three days in the unit, I was discharged with a diagnosis of Autism, PTSD, and Somatic Symptom Disorder. Three weeks later in another ER with another blistering rash, the doctors decided I had scarlet fever from an untreated strep infection. There was no strep test done, they just put me on antibiotics. I took the full course of the meds and began having more of the same symptoms only now they were more severe.

This is when it was decided that my parents must be behind it all. They accused my parents of causing my blisters with boiling water and telling me to tell doctors I was sick. They said my mother had Munchausen's By Proxy. With these new abuse allegations, I was placed in foster care where of course my illness continued only now it was being attributed to anxiety and PTSD from the supposed abuse. I have bounced around from one foster home to the next and overlooked for years. This was a very lonely and dark time for me. I felt guilty that my illness was causing my family so much suffering. The pain and guilt lead me to attempt suicide on several occasions.

My suicide attempt led to another psychiatric hospitalization where I met someone with the same symptoms that I had, at this point my communication skills were improving and I was able to sit and speak with the girl. When I told her, what had been happening to me she told me it sounded like her condition but that It couldn’t be the same thing because I was too young, and the disease is rare. She had Hereditary Coproporphyria. Even being in the same hospital and treated by the same doctors I was still not diagnosed or even tested for this disease. Hearing how rare the condition was, I dismissed the idea of telling myself the odds were astronomical.

I spent several more years suffering from symptoms no one could explain, and many refused to believe. In 2015, I contracted Pneumonia and an ear infection. One of the medications I was given was Bactrim, which is a medication that is not safe for Porphyria patients. I ended up being admitted to the hospital. For three days no one could figure out what was happening. I was deteriorating before their eyes and they had no answers. During rounds, one of the doctors looking over my medical records made a joke that it looked like I might just be a vampire. I had heard this joke before by doctors and nurses when they read that I could not be exposed to sunlight without blistering and burning.

Suddenly, one of the medical student's eyes grew super wide and he stuttered out one word, “Porphyria.” The lead doctor ordered a whole bunch of tests and, just in case, started me on a Dextrose drip. The tests were done several times during my stay, often mishandled, but the treatment was slowly working. The doctor informed me that he believed I had a form of Porphyria but could not offer me a definitive diagnosis at the time.

The word ‘Porphyria’ sounded familiar, but I had long dismissed the idea. I had decided it must be something else and put the memory out of my mind. I didn’t really remember the my earlier encounter until later when I was reading about the disease.

For a year and a half, they tested me and each time something else went wrong. It wasn’t until December 2016 that they managed to collect, package, and ship the samples correctly. Two weeks later I got the call from Hematologist/ oncologist  confirming the diagnosis. I did, in fact, have Hereditary Coproporphyria, a disease that typically does not appear until after puberty or early adulthood. My biochemical testing had revealed elevated ALA, PBG, and Coproporphyrins in my urine. Coproporphyrins were also found in high levels in my stool samples.

I was hospitalized again a couple of months after receiving my diagnosis, this time it was much different. During prior hospitalizations, I had been treated with D10 which slowly helped me recover. However, during this hospitalization, I was given a treatment called Panhematin. When I started the treatment, I was in and out of consciousness, weak, and too lethargic to move. By my third treatment, I was hanging out at the nurse's station, though still in my wheelchair. I was not magically cured, but I was well on my way to recovering.

Though I was relieved to have an answer, I was terrified of what the disease would mean for the rest of my life. I felt lost until my doctor directed me to The American Porphyria Foundation. Through their Facebook support groups I was able to connect with others facing the same challenges and fears.

I receive Panhematin infusions, and I have reconnected with my family. When it is too sunny for me to go outside, I write stories and hang out in the Facebook groups. My life is far from perfect, but I have an answer, I have support, and I have hope that someday I might even have a cure.

Thursday, December 13, 2018

Porphyria Post

December 12, 2018

Porphyria Post

EPP Clinical Trials: Volunteers Needed!
We are close, but we need YOU!

A clinical trial with an oral investigational drug intended to reduce phototoxicity in people living with EPP is underway.

Please note that a Phase 3 study is very unlikely if Phase 2 is not completed. To date, this drug has proven nontoxic and there have been essentially no dropouts in the Phase 2 study to date.

This is an oral drug which makes administration simple.

This study in adults will pave the way for a near-future pediatric trial. EPP is a rare disease and patients must participate in order to get the drug approved. 

To date there is no public information on the availability of Scenesse, and if approved, two drugs on the market may lower their cost.

We will connect you with a Research Coordinator that will answer all your questions and concerns. We will work to make this process as easy as possible for you. 

Eligibility Criteria:
·    Confirmed diagnosis of EPP
·    Provide written informed consent to participate
·    Be willing and able to travel to all study sites for scheduled visits
·    18 - 70 years of age at the time of screening.

Sites enrolling:
·    Mount Sinai - New York City
·    Wake Forest Baptist University - Winston Salem, NC
·    University of Miami - Miami, FL
·    University of Texas Medical Branch - Galveston, TX
·    University of Utah - Salt Lake City, UT
·    University of California San Francisco - San Francisco, CA

We need YOU! Please dig deep and consider being part of this changing moment for all with EPP.

Contact us here at the APF office to get in contact with a research coordinator.
301.347.7166 or 1.866.APF.635

"Remember...Research is the key to YOUR cure!"
Each Step Toward Finding an Effective Treatment is Important!

Are you interested in participating in this clinical trial?



Harvoni Study - PCT
Harvoni Study - PCT

Do you have PCT? Are you interested in participating in research? Do you have Hepatitis C? If you answered YES to these questions, this is for you.

We need YOU for a clinical trial!

The purpose of this clinical trial is to assess whether Harvoni alone is an effective therapy in active PCT patients with Chronic Hepatitis C.

Who can participate?

1.   Adult patients with PCT who also have Hepatitis C

If you are interested in participating please contact Edrin Williams, Director of Patient Services at the APF office at 301.347.7166 for additional information.

Are you interested in participating in this clinical trial?



Panhematin Study - Participants Needed!
Do you have AIP, VP or HCP? Are you interested in participating in research? If so, we are recruiting volunteers for the Panhematin Study.

Our researchers need people to volunteer for the Panhematin study. Completing this study will help prevent insurance companies from not paying for this treatment.

The purpose of this study is to determine if Panhematin is safe and effective for prevention of acute attacks of porphyria.
·    Can you predict when your next attack will happen?
·    Are you currently receiving prophylactic heme treatment?

Please contact Edrin at the APF office (301.347.7166) if you are interested in participating.

Are you interested in participating in this clinical trial?



I have already participated

Panhematin approved in Canada!

Panhematin Approved in Canada to Treat Recurrent Attacks of Acute Intermittent Porphyria
Click on the link below to read this article:

2019 Pet Calendar
Order yours TODAY!
Order your APF 2019 Pet Calendar TODAY! This is a great way to start your year off right and support the APF. 

Calendars are $12 including shipping and can be ordered through the APF Store or by emailing

The calendar is filled with your fluffy companions, dates, and porphyria facts.

Click on the link below to order today!

APF Website
If you have not already done so, please take a moment and bookmark the APF website as one of your favorites!

Here is the Link:

How do you like the newly updated APF website? We would love to hear your feedback!


Still getting used to it!

Emailing my feedback to Edrin @

Get Involved

Contact Information

Is your contact information up to date?
If not please give us a call @ 866-APF-3635 or Email to

American Porphyria Foundation| 1.866.APF.3635 |


"Remember....Research is the Key to Your Cure!"

The Porphyria story of Victor LaFae with HCP

Porphyria story - HCP - Victor LaFae I’m told that I was a typical happy baby for the first few months of my life. I reached all my mile...