There’s always a “But”…

Posted: April 13, 2015 by Administrator in Uncategorized

The researchers of the world seem to be having a banner decade in the search for a treatment for Acute Intermittent Porphyria. Advances keep advancing, treatments keep developing, clinical trials seem to be going incredibly well…but few if any AIP patients will ever benefit from it.

Just to get everyone on the same page on this, let’s start with a quick primer on what is going on in Europe at the moment. 

UniQure has been working on what they have called “5×15” or Five by Fifteen. Their goal has been to find treatments for five rare disorders by 2015. One of these diseases is Acute Intermittent Porphyria.

They have developed a gene therapy for AIP which entered clinical trials using a very small group of patients last year at two university medical centers in Europe.

In July of last year, it was actually said through a spokesperson of some sort that the gene therapy developed by UniQure NV was potentially Curative! (—Positive-Signs-For-Curative-Treatment-Against-Porphyria.kl)

We celebrated a bit in the online group when this was found and posted a few months ago. It was like the much sought after answers were finally within reach. Then it became painfully obvious this week that these answers are and will remain just beyond the fingertips of every single porphyrian with whom I am acquainted, both online and in person.

How can that be?

The other day I read an article regarding Bristol-Myers picking up a percentage of UniQure NV. In the body of the article this statement was made:

UniQure’s gene therapy drug, Glybera, went on sale last year priced at 1.1 million euros.”

1.1 million euros. 1,100,000 euros.

As of today, the conversion rate is 1 euro=1.06 US dollars.

That’s $1,166,000.

That’s a great deal of money. That’s more than I will probably earn in my lifetime. But that just can’t be right, I thought. So I googled for the approximate cost of the porphyria treatment that’s being tested.

It was estimated that the porphyria treatment will also be in the $1,000,000+ range. 

I do not need this treatment. I am merely a caregiver for an individual with AIP, and the mother of a young woman who shows all of the symptoms. Of course it is entirely possible that I’m the person who passed on the gene to my daughter, as I have links through genealogy to living persons with porphyria, and could be latent. I could very easily be just one unknown trigger away from needing the treatment myself.

Like that will ever happen. There is one thing that I can say with relative surety. In fact, I can pretty much guarantee it. My health insurance isn’t going to cover any treatment, curative or not, that costs $1,166,000, regardless of the disease. They will not even entertain the prospect of covering half of the cost of a $1,166,000 treatment. Heads would explode all over the underwriting and utilization review departments of my insurance carrier. The carnage would be unbelievable, and the claim would be unceremoniously and absolutely denied with extreme prejudice.

There’s not a crowdsourced fund-raiser in the world that will garner enough funds for a middle-aged patient who lives under the threat of having the diagnosis nullified by every arrogant ER doctor he or she runs into to get the one treatment that might just end the very disease that’s easier for Medicine to deny than to deal with in a constructive way.

You know that. I know that. The doctors involved in the trials must know that. And certainly the company which developed it has to know that as well. 

Well, I guess that if Bill Gates ever triggers a latent HMBS mutation, it will be there for him. Saudi royal family, perhaps. One of the Kennedy grandchildren. Maybe a Bush.

The rest of us, not so much.  



We are now in February, 2015, and midway through the 28 day lead-up to International Rare Disease Day. A quick search of “Rare Disease” on Google News displays a multitude of articles and press releases by outlets and organizations. Articles run the gamut of topics, including the following:

Raising Rare Disease awareness,
Raising awareness of specific rare diseases and disorders,
Sharing inspirational stories,
Announcing potential breakthroughs or setbacks,
Encouraging participation in Rare Disease Day activities, and,
Shilling for donations for specific patient, specific diseases and for Rare Diseases overall.

Almost every post covers a completely different disease or disorder. The first page of a search at 7:30 am, EST, included articles on Sarcoidosis, Morquio Syndrome, Double Outlet Right Ventrical, Myoclonus Diaphramatic Flutter, Fanconi Anemia, and Kawasaki Disease, in addition to four unrelated articles which contained the words “Rare” and “Disease” within them.

If you want to be even more specific, you can search a specific rare disease or disorder on Google News and find potentially dozens of articles. I searched one of the disorders listed above, restricted the search to the past week, and found 11 distinct news items. Granted, three of them were press releases from a pharmaceutical company involved in research and treatment, but eight of them were about individuals or situations involving the disease.

I then searched Porphyria and restricted it to the past week, as I had done on the previous disorder.

There were five results.

Two press releases regarding a movie in an asian country with a charactor who has a porphyria;
One press release regarding investment activity in a pharmaceutical company involved in gene thereapy for acute porphyria;
One paper on liver injury from a popular diet aid which triggered HCP in an apparently previously latent patient, and;
One item containing financial information on a second pharmaceutical company involved in research on RNAi treatment of acute porphyria.

A week’s worth of articles and none of them had anything to do with a real person, porphyria awareness, individual or organization fund raising, or Rare Disease Day activities, or was generated by any recognized organization of, for, or by persons with a porphyria.

Searching again and restricting it to “Past Month” only increased the list to merely thirteen items. With the exception of one small item from the UK, none of these items did anything to encourage awareness, understanding or activism. Again, none of them was generated by any organization involved with the porphyrias.

Do I want to endure the frustration of expanding the search? I think not. I can handle only so much disappointment and frustration before noon on a Sunday, and I’ve pretty much reached that limit for today. Besides, I conduct this very search at least once a week, looking for items to share in the non-alligned porphyra groups hosted on Facebook, and know quite well both the willful and the incidental inadequacies of those entrusted with porphyria advocacy and activism.

Somehow, it just isn’t within the mission statements of the current  standard bearers for porphyria to engage in either advocacy or activism outside of the confines of their private, cloistered, highly policed and secure groups. It was that way in 2014, and if memory serves me, also in 2013. There were no press releases, no official items anywhere during February of either year.

Granted, there were a few individuals who strove to fundraise for them with jewelry and other crafts on sites like Etsy, but nothing officially. No official Cafe Press store exists with items priced to raise funds. I looked. Search Porphyria on there and you find three t-shirts for the band, Porphyria, and one for a comic. No official Zazzle store exists, either. Here you find a huge selection of coffee mugs with quotes by Browning, and a trucker’s hat and t-shirt by an individual unrelated to any porphyria organization.

What does all of this mean to those who fight with porphyria every day, either within themselves or a loved one?

It means that each of us is faced with having to do on our own what a real, well run, and compasionate organization should be doing for us: Advancing Awareness and Education, Advocating for each other, Supporting each other when possible. It is horrifyingly obvious that no one is going to do it for us. They can’t even manage a simple, timely press release each year.


Image  —  Posted: February 15, 2015 by Administrator in Uncategorized
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Yes, it’s early, but…

Posted: October 11, 2014 by Administrator in Uncategorized

…let us not forget that next February is Rare Disease Month, culminating with International Rare Disease Day on February 28, 2015.

As most of us remember, in both 2013 and 2014 there was no organized effort made by the recognized US organized porphyria entity to participate in, honor, celebrate, or publicly acknowledge Rare Disease Month/Day. We saw no postings in any of the independent or non-affiliated porphyria Facebook groups about any activities being organized by said entity, no memes sanctioned or developed by the entity to bring any awareness, nothing. It was nothing but the chirp of purple-ish crickets for the entire month.

Well, it’s only October, and based on past efforts, it’s obviously time to start thinking about what we are going to do about raising awareness during Rare Disease Month. We certainly don’t want it to get lost, forgotten, or ignored once again.

It’s already hard enough to make people aware and excite them into being part of the solution. It’s unnecessarily harder when opportunities are not taken advantage of by the very people within a particular rare disease community that most (rightfully) believe would be all over it.

So here’s the deal. Let’s make it a lot less difficult. Let us, the unaligned, the independent, the disenfranchised, the denied and the ignored, take it upon ourselves to make sure it gets done in 2015. If you’re having a bad spell and can’t personally take part, find a friend or family member who can help out until you can.

It doesn’t have to be something overly complicated or stenuous.

It doesn’t have to involve a large financial outlay.

It doesn’t need to involve running a marathon, skateboarding through the Mohave desert, or circumnavigating the globe in a styrofoam ice chest.

 All it needs to be is something that educates one person about what porphyria is and what it is not.

If you have a craft, make an item that you can wear to attract people’s attention enough that they will ask you about it and give you a chance to discuss it.

If you are an artist, make a piece that can be auctioned on Ebay or Tophatter or put on Etsy with an informative paragraph to explain why it is being auctioned and what it represents.

If you are a performer or some type, take it to the street or park or other performance friendly space to inform and persuade.

Blog it to exhaustion. Write about it. Hit a poetry slam or open stage/open mic night anywhere.

Talk to your local newspaper or radio station or television news people. They all tend to have a health reporter and a human interest reporter who tend to be looking for something new to write about.

Design a meme on your computer that you can Tweet, Facebook, Blog, Ello, Instagram, Tumbler, etc., everywhere to build awareness.

If your children still do Show and Tell in their school, go and be the Shown and Told About.

The possibilities are nearly endless!

Go Forth!


A potentially viable treatment for not one, not two, but Three Acute Porphyrias is getting closer by the day. The chance of an available RNAi treatment very soon is great, and YOU could be part of what could be Porphyria History.

Alnylam has registered a clinical trial, NCT02240784 at the website, which is recruiting participants right now at three US facilities. The website below will give you all of the information on contacting Alnylam for participating in their current EXPLORE trial and study.

Porphyrians who want to participate in this study need to be diagnosed with one of three acute hepatic porphyrias:  AIP, HCP, and/or VP. It does not stipulate on the website that the diagnosis be through biochemical, genetic, or other diagnostic means, but be prepared to back up any diagnosis with documentation if you have it.

According to site, there are no intermediaries for applying for this study. Go directly to Alnylam at the contact numbers provided on the link below, and they will provide you with all of the necessary contact information for the three currently participating facilities. There is no indication that this study is in any way connected to any existing studies being conducted by any other organization.

Go! Make history! Be a part of what could be a truly life saving treatment for three horrible disorders.

Another Year, Another Missed Opportunity… Again.

Posted: March 5, 2014 by Administrator in Uncategorized

International Rare Disease Month (February, 2014) and International Rare Disease Day (February 28th) has come and gone, and with it many opportunities for increased porphyria awareness and cooperation between porphyrians and the general population (non-porphyrians).

Over the course of the month I made it a point to follow the Google News feed for “Porphyria” to see what, if anything, would be reported by various media outlets. I didn’t check daily until the final week of the month, the week that lead to Rare Disease Day. What I found was telling.

During the final week of the month, there was not one single solitary news item or press release from the only fully recognized Porphyria organization in the United States regarding Rare Disease Month or Day, Volunteerism, Awareness, Service, Education, Fundraising, Organized Activities, Medical or Community Resources, or any other topic that could have brought better understanding between Porphyrians and the rest of the world.

Not one.

Zero. Zilch. Nada.

I would say I was surprised and disappointed, but that would be a complete untruth. I fully expected this annual opportunity to be ignored completely by the one and only fully organized Porphyria nonprofit in the US, and that was exactly what transpired. It was squandered.

And that is one thing the members of the Porphyria community cannot afford to do. There are not enough affordable and effective treatments, not enough knowledgable and sympathetic doctors, not enough trained and effective labs, not enough accurate and available tests for the community. There is not enough understanding, support, or service provided by any organization or by the Medical Industrial Complex. And there certainly is not enough awareness outside the community with the rest of the world.

But apparently those things are not important enough for a well placed and written press release.

Apparently the powers that be had better things to be involved with for that entire month. It was, after all, only 28 days long. How could anyone accomplish anything in only 28 days when everyone knows you need at least 30?


People with one of the many rare diseases and disorders know just how difficult it can be to get a diagnosis.  Very few of the rare disorders have any relatively reliable or widely accepted diagnostic tests, such as specific blood chemicals or visual cues taken from radiological images.  Many of these disorders have no test at all.  They are mysterious, diagnosis-defying, often until it is too late to give any effective help to the patient or the patient’s family.  Of course at that point they can finally be diagnosed based on post-mortem findings.  T’is the very definition of Timeliness and 21st Century Efficiency!

During the process of seeking a diagnosis, individuals will often be told what the possible diagnoses are.  They may be teased with a few, terrorized with others, but nothing definite is ever decided for one reason:  because there is no scientific Empirical Test. 

Physicians and insurance companies require Empirical Tests. 

Specialists and Experts anointed before the grand, high altar of Universitatis Ipsum require Arcane Empirical Tests.

Tests and their Scientific Results are the only means which some physicians and insurers and medical facilities will accept for diagnosing any problem, especially something deemed to be Rare, and which is therefore Improbable. 

Add to this the great Empirical Requirement that the results of these tests must be reproducible.  Repeatedly.  Ad nauseum.  Often at the whim of second string replacement consulting specialists who refuse to think that anyone else in all of the realm of Medicine is capable of a True Diagnosis. 

Tests, tests, and more tests!  Expensive, time-consuming, often painful, degrading, woefully inadequate, notoriously inaccurate, inappropriate tests!

That is, of course, if a person is “lucky” enough to have a disorder or disease that actually can be diagnosed [consistently, accurately, repeatedly] through a test [of which his or her physician is even vaguely aware].  If that is not the case, they simply become as invisible as the disease which clutches at them daily.

Invisibility is unacceptable.  Just because physicians are cowed by the anointed Experts of Unversitatis Ipsom and fearful of utilizing the greatest diagnostic tool known to mankind, the one between their collective ears, does not mean that patients need to remain undiagnosed and invisible.  It merely means that the time has come for doing one’s physician’s homework for him.

But, Gentle Lady, you might ask,  How can we Mere Mortals begin to presume the we have the knowledge, the wisdom, or the skills necessary to do a physician’s homework?

One must grasp the bull by the horns and, for lack of a better term, do it one’s self.  We, as mere mortals, both the afflicted and the civilian caregiver, can and must circumvent the system to enhance our chances of getting and maintaining the necessary and officially sanctioned diagnosis. 

Begin with compiling a full list of symptoms.  Try, if memory is willing, to list them in a close approximation of the order in which you began to experience them.  As new ones present, add them and the dates on which they appeared.  Try to include the length of time each of them takes to manifest, as well as how long it remains to torment you.   

Do not be ashamed of any symptom you experience.  No symptom is shameful nor can impune you in any way.  It is no more or less than a function of biology, of the confluence of damaged, missing, extra, or misaligned particles of an acid deep within the cells of your person.  Document them all, regardless of how insignificant they may appear to you, and particularly if they remain or recur as part of a cycle.

Each and every time you visit your physician, provide him with the updated list.  Insist that it be added to your permanent medical record after having discussed the changes with your physician. 

To guarantee that it is being placed into this file, every few months or after every so many visits, request a copy of your complete medical record be provided by the office staff.  Avail yourself of a quiet corner of the waiting room, preferably one in the direct line of sight for his reception staff, and check it. 

Sadly, the amount of time necessary for such perceived theatrics is not always available.  Making the time can, however, ensure not only that your Permanent Record is accurate and timely, but that you are in possession of the most recent copy of that record if the need to have one should arise.  One never knows when a frantic trip to the emergency room might be necessary, and having a current copy of one’s medical record is always a good idea.

If your physician has ordered the collection of your urine for 24 hours to be tested in some unknown laboratory quite far from where you live, and if these tests have been ineffective, repeatedly showing you have relatively normal urine, you may find yourself in the unenviable and dubious position of proving that it truly is quite far from normal.  One can accomplish this in a few different ways.

One method, the Impoverished Man’s Porphyria Test, requires but few simple supplies:  abundant bright sunlight, two very clean, sealable clear glass containers, and the fresh urine of both the individual with Porphryia and an individual who undisputedly does not suffer any manner of Porphyria.  If one has a camera with tripod, set it up prior to procuring the two quantities of bodily fluids so that it can document the changes that occur.  Take all care to make certain that each photograph taken during this test will show both the time and date to ensure that they will be viewed in the proper sequence.

Both individuals need to place their fresh samples, at essentially the same time, into their respective glass containers and seal them properly.  This truly should be accomplished in a room with dimmed lights and pulled curtains.  When filled, sealed, and marked, place the containers in a dark bag or sack until you place them in their test spots.  It would do no good to compromise the fluid before it has ever seen the bright sunlight.

Place the containers close to each other in the bright light in such a way as to ensure one does not shade the other.  Make sure that both of the containers can be photographed in their entireties in each repeated photograph, and quickly snap your initial photograph. 

The difficult part behind you, there is nothing left but to take an additional photo periodically throughout the day, documenting the increasing difference between the two samples, until it is abundantly obvious even to the over-schooled and diplomaed that there is something profound occurring.  This change may take one day, it may even require two to reach the peak of Porphyriosity.  Be patient, and maintain the intervals as precisely as can be managed for optimum documentation.

A variation on the Impoverished Man Test would be to conduct the test discretely and privately within the home with the aid of full daylight flourescent lighting.  One will find there are far fewer neighbors concerned about ghastly necromantic experimentation and savagely libertine activities within the household being shamelessly put on display in the garden if one is carefull about where one displays one’s urine.

If things go well, the weather holds, and the camera does its duty, your will have an unbroken series of photographs, your Second will have urine which has only imperceptibly changed, and you will have urine that has darkened and changed in hue considerably.  It may have taken on the color of deeply brewed black tea, smokey port wine, well aged scotch, perhaps even boiled cider.

One other thing that you can do in assisting with your diagnosis is to conduct a bit of investigation into your familial ties with Porphyria.  If there is a sibling or a parent, even cousins or great-aunt who has a diagnosis or who passed from causes commonly known to be tied to porphyria, gather that information into a Medical Family Tree.  Showing an irrefutable link to others with known and documented porphyria adds one more layer to the foundation of your own porphyria, something which cannot be easily brushed aside by the Experts Universitatis Ipsum.

Another tack that you, gentle person, could employ in guiding your physician to a solid and at least temporarily substantial Porphyria diagnosis would be to conduct your own study of your personal genetics. 

How, say you, can one even begin to attempt such a difficult and rigorous task? 

Good Reader, let this lift your spirits and raise your esteem:  The average median IQ of general practice and family practice physicians is a respectable but merely “above average” 130 points.  Many of you, by some quirk of your genetics, average at that number or above.  If you find your IQ to be at that magical 130 level as well, then fully half of these Highly Respected and Scholarly Individuals does not have the intellectual potential that you have.

If they can do this, then with the proper materials and instructions, you can do it as well.  To begin this journey, contact one of the few DNA labs which will map the pattern of your very existence for you at reasonable cost.  One such example is 23andMe

Although, sadly, they cannot pull each and every marker and mutation for Porphyria, however common or arcane, and display them for you in a vast tapestry of sequenced genes, they can direct you along the proper path for reading and finding the information you need to firmly press your physician from a position of contrariness to one of cooperation in your diagnosis.

A found resource.

Posted: May 12, 2012 by Administrator in Uncategorized
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While perusing the internet this morning I happened upon a page with what might be very helpful resources.

The National Organization for Rare Disorders has a wonderful page entitled “Financial and Medication Assistance Resources” which contains a bounty of potential.  Many of them will not be useful because they are pretty specialized for specific diseases or disorders, or for pediatric illnesses, but others may prove to be very useful.  They are certainly worth the time to check and perhaps call during normal business hours to speak with a representative.