My daughter Jill was diagnosed with Acute Intermittent Porphyria (AIP): Acute (it comes on fast), Intermittent (because one never knows when the liver will react to a trigger) Porphyria (the Greek word for purple—one of the hallmark signals is darkened, purple-hued urine) at age 12. AIP is a genetic, metabolic life-threatening disease also known as “Swedish Porphyria” (because Sweden is where it was first identified and has the highest worldwide incidence of AIP). Known as the “great imitator,” AIP is incredibly difficult for medical experts to figure out because symptoms can manifest (intermittently) individually or collectively with physical, neurological and/or psychiatric presentations that range from non-specific to alarming–and can come and go with maddening switftness.

It is rare for AIP to be diagnosed in U.S. adults, never mind kids. Jill was the first and only child to require infusion treatments for AIP of a human blood product, Panhematin® at Connecticut’s children’s hospital. In fact, she may be the first (and only) U.S. child with AIP to require such treatments for moderate to severe attacks. If not, we’d love to hear from others.

Making diagnosis even more difficult was the fact that Jill did not produce the hallmark purple urine during attacks—and that she is adopted. A neurologist’s “back hand” clue fueled an already burning fire in me to find out what was wrong with Jill, whose first presentations were neurological symptoms: tremors, headaches, nauseous and frequent fainting/convulsive spells beginning in sixth grade. Then moved onto severe abdominal (liver) pain, respiratory difficulty and paralysis–all of which resolved with heme treatments. A year later, after a couple of misdiagnoses (psychiatric), and frighteningly worsening attacks (intensity and frequency), a DNA test (at my insistence) revealed that Jill had AIP. I have since dubbed her my Purple Canary because she has porphyria and she exhibits terrible, life-threatening reactions every time she sets foot in the local public school buildings. That’s another—and the next story. She first presented with AIP at 11 and is now 16. We are collaborating on a book about our journey turned expedition.

29 thoughts on “A Purple Canary: Life with Acute Intermittent Porphyria”

  1. Grazyna says:

    Yes! Finally something about acute illness list.

  2. amanda says:

    Please contact me as i have aip and i have been tested and checked since i.was born and i.had treatment when i was young but now its worse. i wouls love to chat with you both
    acrich02@gmail.com

  3. Amanda says:

    Hi Joyce, I have two children with Hereditary Coproporphyria, another form of the acute porphyrias, and both have had attacks. My 7 year old son was in attack for 2 years before he was tested (genetically confirmed and with elevated porphyrins in the urine) and my 18 year old daughter has been affected since she was small too but was refused testing due to the fact that the only specialist in NSW (Australia) says that children cannot be symptomatic. She was finally tested and was found to be genetically positive and has had major attacks of stomach pain, back pain, severe headaches, anxiety, shortness of breath, tachycardia (heart rate going over 200bpm), postural hypotension…. She has been refused treatment as she does not have elevated porphyrins in the urine either, at least not high enough to satisfy the lone-specialist. It has been a nightmare. She was recently so bad that I thought she was going to die and I threatened legal action if she was not treated. Five days on a glucose drip did the trick but they still won’t admit it’s porphyria. It is very frustrating as I have met many others, predominantly in the US, who have attacks and do not have elevated porphyrins. You sound like you have a great doctor! They are worth their weight in gold. All the best for Jill. I’d love to hear from you. Amanda

  4. Barbara Bradbury says:

    As I said on BP site, I am horrified by the experiences, would love to follow your story and progress and look forward to the book. Will you publish chapter by chapter on line? I too am writing a book on my experiences. Have yu seen Sabrina ‘s blog, very informative

  5. Joyce G says:

    Hi Amanda–we’ve connected! Thanks so much for tracking us down…you’re a woman after my own heart!
    To update everyone, Mount Sinai (NYC) REVISED Jill’s dx in late summer and said she does have the gene that her AIP is latent. This was supported by APF docs because once again, she didn’t produce high urinary PBGs. ARGHH. So her doctor now has withdrawn AIP treatment. ARGHHH. P. Gabel, I’m so sorry to hear your terrible story…devastating doesn’t begin to describe it. Sounds like something out of medeival medical lore…And BBW, THANKS for the articles reference! acrich, I will email you soon. Our book is in final edit stage. PLEASE visit Facebook/purplecanary for updates or email us directly. Need your support. Working on proposal to get published and doing more research, this time about competive/comparable books. Does anyone else know of US (besides D. Lyon Howe or Dina O’Reilly’s) or outside of US books about AIPorphyria ?

    THANKS SO MUCH!!

    Will share more info on Facebook page.

    Hugs to you all…

  6. Barbara bradbury says:

    Sorry Amanda, I lost sight of your request. Aren’t yiu on apf also?

  7. Barbara bradbury says:

    Will think zbout that. Have quite a collection, but mostly medical. Sabrina’s blog and one or two others come to mind. will try to locate thrm.

  8. Barbara bradbury says:

    Joyce, do not have your email to contact you, nor can i locate Purple Canary on FB.
    Mist interested in the use if a glucometer, as told by melissa

  9. Joyce Gould says:

    Have found little info on using insulin w/glucose during infusions. But I think your point about glucometer strikes to the heart of what I’ve been championing for a while–how to determine heme level in human body at any given time. A glucometer won’t work; CBC lab results are not enough; Not being a doctor or medically inclined, I’m guessing something is needed that measures the content & level of heme molecules. The point is, we need something that WARNS of potential impending attacks–like diabetics have with glucometer. I’ll check w/Jill about Facebook. It’s connected to her Facebook page–Jill Melissa Gould. Will try to get you through APF closed group, too. Thank you for being so persistent (I’m pretty bad a technology–sorry!

  10. Liz Waldenberger says:

    I am now 44 years old and was diagnosed after many years of mis-diagnosing through Mayo – yes Mayo. Why would they call Jill’s “latent” when she clearly has signs and symptoms? My pee still doesn’t turn purple either and I have horrible pain unexpectantly in my upper right quadrant and lots of vomiting – can’t really hide that. Please help, I am finding very little help hear and I too feel like my Hemin treatments aren’t helping like they used to.

  11. Michael McMillan says:

    I have AIP. The pain is severe.

  12. Joyce Gould says:

    Our book is now available on Amazon.com. Purple Canary. Please check it out–and if you like it, post review!! Working on media releast this week…

  13. Virendra says:

    Hello Joyce,
    My sister is diagnosed with AIP and we are not much aware about its treatment. Could you please help us over it.

  14. Virendra says:

    My sister is too suffering from AIP and we are not much aware of its treatment. Could you please share treatment details related to it.

  15. Kir says:

    It was a long and difficult journey to my diagnosis. It took 29 years of baffled doctors, failed attempts to feel better, family and friends that were lost and didn’t know what to think. I received Panhematin by infusion. Was she seen my the Porph doctor in Galverston and/or been to Mt. Sinai? I am great full to see more awareness to this dx.

  16. Donna says:

    My brother and my mother both have and had AIP, I say had bc my brother passed away at the age of 18 in 1992 and my mom still has so many complications from AIP and spent almost 15 years of her life in the hospital for a week or two at a time, I am a carrier as are a lot of my family members butt is a horrible disease to see a family member suffer through!

  17. Lynne Maestas says:

    If anyone with AIP decides to have children, please make sure at least one parent does NOT have AIP. A child has a 1 in 4 chance of inheriting the bad gene from both parents and the result is homozygous AIP. It is the most horrible thing to watch helplessly at an infant/child…there are no words. A simple genetic test will tell if you have AIP.

  18. Hazel D. Pigott says:

    I was born in Chichester, West Sussex, England in 1941. I was not diagnosed with AIP until 1982. My pre-diagnosis years were agonizing, both physically & emotionally. I sympathize with others who have this metabolic disorder, but at least today, it can be diagnosed by having your DNA tested – and there is treatment for it. I am anxious to correspond with anyone who suffers from the confusing symptoms of AIP.
    Hugs, Hazel

  19. Joyce Gould says:

    Hazel, so sorry for the delayed response. Jill has been very ill with her AIP; she was exceedingly heme deficient, ended up in the ER 3-4 x per week with fainting/convulsive episodes. Got bad. Really bad. I’d been watching her PBGD drop; finally her hematologist reviewed all lab results and agreed to resume Panhematin infusions. She had her first three days ago. We’re looking into the subtypes of AIP; it seems she may have a CRI-positive subtype of AIP. This means that her symptoms increase as her PBGD (blood) levels decrease. Has nothing to do with her urine pbgs, which the experts claim is the end all to be all of diagnosing AIP. Now that she’s doing somewhat better, I will soon be blogging on http://www.purplecanaries.com. Seems treatments for AIP–and most acute porphs–are elusive the whole world over.

  20. Herb Morean says:

    I have been having inexplicable attacks of abdominal pain for over 20 years so intense I need to go in an ambulance to the ER, my blood pressure is often 260/140 when this happens. I have even had a nissen fundiplication surgery hoping the heartburn was causing this. When I go to ER they treat me like a drug addict looking for a shot. This is the case even after I now have been referred to a research hospital for further evaluation. The referral will take many months before it translates into action. What can I do meanwhile that may reduce the severity of the pain during an attack? Or how can I reduce the number of attacks I have? Currently i don’t go more than a month before the pain meds I have dinner help, and I require the hospital visit.

  21. Elizabeth Carroll says:

    My mother, who had been diagnosed, passed away from AIP in 1970 and her brother, undiagnosed, in 1955. My 2 sons and I were tested at Westmead Hospital in NSW, Australia, by a Professor Geoffrey Farrell. We all returned a positive diagnosis of latent AIP. I had my first attack of AIP in 2002 following an accident and I was inappropriately prescribed Tegretol, an anti epileptic medication. I have since had attacks on and off and have followed all advice found in the American Porphyria Foundation website, university of Queensland, Porphyria Department and also the Swedish Porphyria Foundation. They are all in agreement that ‘carb loading’ can assist during an attack and this strategy has resulted in fewer hospital admissions. About 10 years ago, whilst working in Canberra I had an acute attack requiring urgent hospital admission. As luck would have it my diagnosing doctor, Professor Farrell was head of the Heptology department and I was able to finally engage with a medical professional who not only understands AIP, he actively keeps abreast of this disease. Professor Farrell travels and conducts lectures which include the Porphyrias.

  22. Jadee hartley says:

    I am 21 years old, and have been dealing with symptoms of AIP since I was 13. I was spending thousands of dollars coming in and out of the ER for severe pain. The doctors treated me as if I were insane, or a drug addict. Currently undergoing urine analysis, and showing elevated levels of the chemical. Next is DNA testing. I Was told for too many years I was crazy.

  23. Joyce Gould says:

    So very sorry for the delay in responding, apparently I do not get notifications as regularly as I’d thought would happen. I have found entire communities of people like you in “undiagnosed limbo” Check out http://www.purplecanaries.com blog and FFFF white paper I wrote. Am telling the world about this urinary biochemical dx fiasco. Also, some tips (obviously, talk to your doc before taking ANYTHING, but Tagamet (cimetidine) is a proven porph treatment (https://www.ncbi.nlm.nih.gov/pubmed/90066947 and other articles) ; Gatorade (for electrolytes) mixed with Dextrose (Amazon) apparently better than sugar at getting into cells…carbs (complex in diet i.e. oatmeal, muffins, pasta, etc and simple carbs (lollipops, hard candies, ice pops, etc at start of ANY symptoms–physical, neurological, neuropsychiatric)

  24. Joyce Gould says:

    You are NOT crazy!!!! It is all to common for medical, educational and societal “professionals” to reach for pharmaceuticals and/or a mental health diagnosis.DNA testing turned out to be a fiasco for my daughter. (check out web site below). I’m not a doctor but have found entire communities of patients like you (and my daughter). Not a doc (so pls check with yours before trying anything) but have found some “home remedies”: Tagamet (otc) is cimetidine, a proven treatment for porph symptoms–https://www.ncbi.nlm.nih.gov/pubmed/9066947; Gatorade (for electrolytes) mixed with 2 T or more of dextrose (better than sugar for getting into cells); carbs (complex like grain muffins, breads, pasta etc for regular diet and simple carbs (sugar) like hard candies, lollipops, etc for when symptoms spring up….Contact me by email or watch blog. Read FFFF white paper on blog I wrote. We all need to work together….Wishing you all the best.

  25. Kat says:

    … Been there. I’ve been there… Hell, I’ve basically been you. I was 21, 24, 26, 27, 29, … it took me until I was 31. The scary thing is that I live in a major metropolitan area with a famous teaching hospital full of medical students that has a reputation of being on the cutting edge of new discoveries and treatments. If any hospital was going to discover what was wrong on the first try, it was going to be this one, right?

    Doctors, even when they’re fresh medical students barely starting to sprout, fresh out of college, have it drilled into them. Occom’s Razor. The simplest answer is usually the best. If you hear hoofbeats, think hoofbeats, not horses, not zebras. I know it’s hard because we are taught that, as patients, we shouldn’t sit them down and correct them, but you need to advocate for yourself. Remind your doctor that the simplest answer is NOT the answer that takes him the least amount of time. The simplest answer is the one that fits all of your symptoms the best without adding or discarding symptoms. That those hoofbeats will be zebras if he is in Africa.

  26. Joyce Gould says:

    Am currently working on an updated white paper that addresses this issue titled STILL FEAR-RIDDEN, FRUSTRATED, FORGOTTEN AND FED-UP. Guaranteed to get attention. If you’d like a copy when it is ready, please let me know. See 2017 FFFF white paper on http://www.purplecanaries.com blog. When STILL FFFF is finished, it will be posted then and distributed to porph experts worldwide.

  27. Joyce Gould says:

    Please see http://www.purplecanaries.com for page FFFF; am writing an update: STILL FFFF. Specifically addresses the topic of severe clinical symptomology, but no urinary biochemical “proof.”

  28. Natasha Ahluwalia says:

    Hi,
    Is there no cure or medication to reduce the episodes.Sometimes I really feel like like ending my life.

  29. Angela Papetti says:

    My name is Angela, my first symptoms of aip started when I was 25. I had severe pain in my stomach and I was falling down and dizzy. I could barely walk into the er. So many trips back and forth to the er only for them to Treat me like a crazy drug addict. I finally ended up in the icu for about 7 days after I was unconscious and taken in by the ambulance. They moved me to the neurology floor for a while for monitoring and said I had a mini stroke. These episodes happened again iwas hospitalized so many times and no one could tell me what was wrong they said once I was in kidney failure. My mother was the only person who stood by me and believed me she was bound and determined to find a doctor who could help me. Finally my urine became purple. This was five years into these episodes, I went for a follow up with a kiney doctor and he knew exactly what I had I brought a sample of my urine to the visit I just knew that was the key. Thankfully he had read about porphyria in school and he sent me for the test they came back positive. He took care of me for some years and finally the attacks became so frequent he turned me over to a hematologist. My hematologist has made my quality of life so much better I can now live like a normal person. He ordered for me to have preventative treatment for my attacks and he gives me panhemitin infusions once every two weeks. I am so thankful that I finally found the doctors I need. Good luck to everyone else out there struggling its a very hard journey.

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