Comments on: Our Diagnosis – Into The Unknown – Porphyria 101

By: Joyce Gould

Joyce Gould — Thu, 18 Oct 2018 20:19:10 +0000

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.

By: Emily Graham

Emily Graham — Sun, 02 Apr 2017 23:32:14 +0000

In reply to Elizabeth Crocker. 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.

By: Elizabeth Crocker

Elizabeth Crocker — Sun, 02 Apr 2017 14:40:21 +0000

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.

By: Emily Graham

Emily Graham — Tue, 31 Jan 2017 01:25:23 +0000

In reply to andrea t.

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!

By: andrea t

andrea t — Mon, 30 Jan 2017 23:45:57 +0000

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.