Our Diagnosis – Into The Unknown – Porphyria 101

Our Diagnosis – Into The Unknown – Porphyria 101

Over the last 6-months, 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 typically die from porphyria”. Especially not 7-year old boys with no history of symptoms.

What I do know? It is a blood disease. It is quite rare. 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 being the one responsible for ensuring the health and safety of my girls. We all know how things went the first time. While I’m far more prepared this time, I wish I had doctors that seemed more confident. Instead it feels as if they look to me for information.

Here’s what I know, our version of porphyria is Hereditary Coproporphyria. 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, and even hormones and pregnancy.

Porphyria is more commonly active in women versus men because hormones play a role as a trigger. What does this mean for my girls? When they reach puberty, they have a higher risk of being impacted. There is a risk for them to get pregnant and have children someday. 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 Sienna’s symptoms remain dormant. 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. 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 have gotten lucky with a geneticist. A woman recently relocated to the state of Florida (not Orlando) and she plans to specialize in porphyria. What are the odds? This diagnosis sits in the background of everything we do. Just waiting. Those two little girls are like a ticking time bomb sitting in the palm of my hand.

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Comments ( 4 )
  1. andrea t
    January 30, 2017 at 11:45 PM
    Reply

    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.

    • Emily Graham
      Emily Graham
      January 31, 2017 at 1:25 AM
      Reply

      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. Elizabeth Crocker
    April 2, 2017 at 2:40 PM
    Reply

    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.

    • Emily Graham
      Emily Graham
      April 2, 2017 at 11:32 PM
      Reply

      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.

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