Our Diagnosis – Into The Unknown – Porphyria 101

Our Porphyria Diagnosis

Porphyria has come to mean a lot of things. I hold a piece of paper that tells me it is the reason my 7-year old son died. DNA testing tells me everyone in my family has it. When I speak with doctors, there is either confusion or questions.

Most tell me they can’t believe our story because, “people don’t die from porphyria”. Especially not 7-year old boys with no history of symptoms. But it happened!

What I do know? It is a blood disease. It is quite rare. According to the American Porphyria Foundation, only 2 in 1 million are lucky enough to claim it. Most doctors have never seen a case in real life. Some remember learning about it in medical school. It makes us all nervous.

Going forward we require a team of doctors for very basic things I’ve always taken for granted. I don’t like feeling like an expert when I’m talking to a doctor that isn’t. I can’t be the one responsible for ensuring the health and safety of my girls. It scares me. We all know how things went the first time.

While I’m far more prepared now, I wish I had doctors that seemed more confident. Instead it feels as if they look to me for information.

Our version of porphyria is Hereditary Coproporphyria (HCP). It is inherited. Ours is an acute version. That means the symptoms are non-specific.

Due to the similarity of symptoms from other common conditions, it typically goes undiagnosed or misdiagnosed. The possibility exists to have it and not know it. It can lie dormant for years and then all of a sudden become active.

Hereditary Coproporphyria

When porphyria is active, it shows itself through an attack. In our acute version that means symptoms like severe abdominal pain, vomiting, agitation, confusion, abnormal behavior, numbness and muscle weakness, even paralysis.

What brings it on? This is not always known. However, there is a laundry list of things that we must avoid for safety precautions. Things like many medications (even over the counter, common things), low calorie diets, infection, stress, alcohol, even hormones and pregnancy.

Porphyria is more commonly active in women versus men because estrogen plays a role as a trigger. What does this mean for my girls? When they reach puberty, they have a higher risk of being impacted. One day if they decide to have children, it impacts their decision and path to motherhood. They will not be able to take birth control pills as they are considered unsafe.

Every medication they are given will need to be checked. Their pediatrician and even their dentist must work with a geneticist to make sure every decision is made in their best interest. It is our hope that symptoms remain dormant for our youngest. She only has one kidney, and Porphyria attacks cause damage to kidneys.

When one of my girls is sick, I am terrified.

How am I supposed to know the difference? According to Cameron’s autopsy report his brain showed signs of previous attacks. That baffles me. Nothing stands out as anything more than normal illness. We missed it then, why not now? Or in the future?

I can tell you our pediatrician now knows me! She gave me her personal cell phone number so I can reach her anytime. I wish that made me feel all warm and fuzzy inside. It doesn’t.

There is only one person recognized as a porphyria expert in the state of Florida. She is based in Miami. I have spoken with her on a few occasions.¬†We are still searching for local doctors to be part of our “team” so we have all of our bases covered.

This diagnosis sits in the background of everything we do. Just waiting. Those two little girls resemble a ticking time bomb sitting in the palm of my hand. All I can do is try to be rational each time they get sick. With time and knowledge, it will hopefully get easier.

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5 Comments on “Our Diagnosis – Into The Unknown – Porphyria 101”

  1. Hello,
    First, I would like to extend my most sincere empathy for the loss of your son. We are unfortunately members of a club that no parent should have to be in.
    I have a friend who just lost her daughter a few weeks ago. The symptoms of your son and her daughter seem similar. She wants to know if you asked for an autopsy to be done or if the hospital automatically performed one?
    Thank you in advance for taking the time to answer.
    Continued blessings to you.
    Andrea T.

    1. We were told by the hospital we did not need to perform one so it was up to us. We requested it, and we are glad we did. It helped tremendously with our peace of mind, which we knew that night. We really had no idea we would get the information we did. Feel free to email me directly (or she can). Emily@justplayinghouse.com. Lots of love!

  2. WOW. My heart aches for you, and my stomach shakes for you. How you will manage to remain clam and collected each day as you live with this fear. My girls had an unknown genetic issue as well. Everything you describe here about doctors with more questions than answers is so familiar. I feel your fear. I will light candles and visualize your girls as strong healthy women on this earth, and the doctors having answers and treatments. Please have faith that this can happen fast. My girls died before anyone knew what they had, but eventually, within a few years after, they determined there were about 900 known cases world wide, and it is terminal, but this also means they now know enough to help find a treatment for future cases. Science is really working fast, and results can happen soon for you. I know it.

    1. It certainly was a shock to us. We had no idea Cameron had it, let alone my husband or the girls. It certainly sends me into a panic each time a fever pops up or similar symptoms. My oldest daughter has the flu right now and even though I know it’s only the flu, I worry. Through our autopsy experience we found out Cameron had signs of past injuries from the porphyria. We had no signs or anything unusual that would ever make us question. Scary. I do agree though that science moves fast. Now that we know what we are dealing with we should be OK. It’s just sad that we have to go through experiences like this to find these things out.

  3. Emily, please accept my deepest condolences in the loss of your beautiful boy. My heart hurts for you and your entire family and circle of friends. HCP, as are all the acute porphyrias, is an insidious disease. My daughter has AIP–presented at eleven years old. I work with a group of patients and caregivers (some of whom are parents) of acute-porphyria afflicted children who have suffered for years. People can and DO die from porphyria. That everyone in your family has it is concerning–and yes, you are right to be frightened for your girl’s health and safety. I suggest that you join one or more closed Facebook groups (porphyria forums) were the vast majority of participants are “Misfit Porphs”. That is, they don’t meet the American Porphyria Foundation’s (APF) “gold standard” of diagnosis which is excreting urinary biochemical proof (U-BP) during potentially life-threatening acute attacks. I wrote a book about my daughter’s ordeal (age 11-16)–Purple Canary, at a time when APF experts insisted children did not get porphyria. Bunk. Found these groups after APF orchestrated the removal of my daughter’s AIP diagnosis–after 5-1/2 years of effective treatment (and a solid DNA test at age 12) and torpedoed her life. I have great animosity towards this phony patient-advocacy/physician education group. They are nearing 40 years in business–and the medical community is more confused or unknowledgeable than ever. Facebook forums to check out: Porphyria; Porphyria Alliance; Porphyria: Diagnosed, now what? and Porphyria International Support Group for REAL truth and answers. Please keep the girls safe. If Cameron didn’t generate U-BP and your girls don’t, APF will not help. We’re all proof of that.

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