Members & Followers

Monday, September 19, 2016

Lina Rebeiz and her personal journey with AIP

  My porphyria symptoms started right after orientation of my freshman year of college. The pain started in my lower back and quickly moved to my abdomen, and within an hour I was curled up in my bed crying. My initial thought was that this must be food poisoning, and that my Resident Advisor's suggestion to go to the ER was ridiculous. When I woke up the next day, the pain had doubled and I began vomiting uncontrollably. I went directly to our student health and wellness center, where I was given Urinary Tract Infection (UTI) medication and advised to visit the ER if my symptoms worsened.
As the pain continued to intensify, I could not believe that this sensation was humanly possible. As soon as I thought the pain had reached its absolute limit, it would double. I finally decided to go to the ER, where I waited hours before being seen, only to be told that I should hydrate and relax for my ‘UTI’ to go away. Nevertheless, because of the intensity of my pain, I was admitted to the hospital overnight while the doctors ran tests. When everything came back negative, I was sent home and told to go about my life normally. My parents, who had come to visit me while I was in the hospital, both scratched their heads at my weird symptoms. Though they are both physicians, they could not think of what could possibly be causing this misery.

After being discharged from the hospital un-diagnosed, I returned to the health and wellness center every day (sometimes multiple times a day) in the hopes that somebody would figure out what was wrong with me. I couldn’t go to the hospital because they had already discharged me without a diagnosis. The pain was too unbearable to attend class, my parents made me feel guilty for staying home to rest, and everyone considered me an over-dramatic hypochondriac. Doctors repeated appendicitis and UTI tests, and every day they would tell me again that nothing was wrong with me. When I would call my parents crying, they would insist that I should trust the doctors and just relax. Unsure of what to do, I stopped going to class altogether because standing up and walking a few feet felt like running a marathon.

        Over the course of a few weeks I lost more than 20 pounds; anything I tried to consume or drink (including water) would instantly be thrown up. After a month of being told that the symptoms were in my head, I started to believe the doctors. I stopped talking to my friends because I could not explain what was wrong with me; I stopped calling my parents and just retreated into my room until I eventually started getting better on my own.

        Several months later, while on winter vacation with my family, my symptoms returned with a vengeance after I started taking birth control pills. My family, convinced that I had suffered something traumatic that I didn’t want to share, insisted that I should take a break from school until I got better. I knew that this suggestion was ridiculous, and that there had to be something physically wrong with me. But without any medical evidence nobody believed me, and so we kept ignoring my symptoms.
After another two weeks, I again became malnourished -- but this time I also became delusional. My blood pressure had risen so high and my sodium had dropped so low that I suffered two seizures. During this episode, all I remember is the recurring feeling of insanity. I experienced mild hallucinations paired with strong delusions, and I always felt confused and scared. I had a constant feeling of worry, but not about anything concrete. Though it sound ridiculous now, I felt like something abstract, perhaps a monster, was out to get me.

It was during this episode that I was finally diagnosed. After the seizures, I was being treated at Tufts Medical Center, where my dad works; I am sure that without his stature as head of the otolaryngology department I would have been ignored once more. It took a whole team of doctors to figure out what was causing my symptoms; with the seizures and the PRES syndrome that followed, we finally had proof that these symptoms could not have been psychosomatic. With a stroke of luck, they sent out the test for Porphyria, and within a week the results came back positive.

When I received Panhematin, I bounced back within two days. After months of hell, I cannot put into words how relieved I was to receive an official diagnosis, and to start treatment. Now, having a diagnosis of Acute Intermittent Porphyria, I am confident that my symptoms will never be as extreme as they were then. I still do have sporadic attacks, but I am now able to recognize them and receive treatment early on. Though every day I wake up and wonder if that dull ache in my stomach, or that abstract feeling of anxiety means that a full-blown attack is coming, I have learned to manage the pain and to take it one day at a time.

Friday, September 16, 2016

Learning about Porphyria

Learning about Porphyria

To view entire link:

What is porphyria?

The porphyrias are a group of different diseases, each caused by a specific abnormality in the heme production process. Heme is a chemical compound that contains iron and gives blood its red color. The essential functions of heme depend on its ability to bind oxygen. Heme is incorporated into hemoglobin, a protein that enables red blood cells to carry oxygen from the lungs to all parts of the body. Heme also plays a role in the liver where it assists in breaking down chemicals (including some drugs and hormones) so that they are easily removed from the body.
Heme is produced in the bone marrow and liver through a complex process controlled by eight different enzymes. As this production process of heme progresses, several different intermediate compounds (heme precursors) are created and modified. If one of the essential enzymes in heme production is deficient, certain precursors may accumulate in tissues (especially in the bone marrow or liver), appear in excess in the blood, and get excreted in the urine or stool. The specific precursors that accumulate depend on which enzyme is deficient. Porphyria results in a deficiency or inactivity of a specific enzyme in the heme production process, with resulting accumulation of heme precursors.

What are the signs and symptoms of porphyria?

The signs and symptoms of porphyria vary among types. Some types of porphyria (called cutaneous porphyria) cause the skin to become overly sensitive to sunlight. Areas of the skin exposed to the sun develop redness, blistering and often scarring.
The symptoms of other types of porphyria (called acute porphyrias) affect the nervous system. These symptoms include chest and abdominal pain, emotional and mental disorders, seizures and muscle weakness. These symptoms often appear quickly and last from days to weeks. Some porphyrias have a combination of acute symptoms and symptoms that affect the skin.
Environmental factors can trigger the signs and symptoms of porphyria. These include:
  • Alcohol
  • Smoking
  • Certain drugs, hormones
  • Exposure to sunlight
  • Stress
  • Dieting and fasting

How is porphyria diagnosed?

Porphyria is diagnosed through blood, urine, and stool tests, especially at or near the time of symptoms. Diagnosis may be difficult because the range of symptoms is common to many disorders and interpretation of the tests may be complex. A large number of tests are available, however, but results among laboratories are not always reliable.

How is porphyria treated?

Each form of porphyria is treated differently. Treatment may involve treating with heme, giving medicines to relieve the symptoms, or drawing blood. People who have severe attacks may need to be hospitalized.

What do we know about porphyria and heredity?

Most of the porphyrias are inherited conditions. The genes for all the enzymes in the heme pathway have been identified. Some forms of porphyria result from inheriting one altered gene from one parent (autosomal dominant). Other forms result from inheriting two altered genes, one from each parent (autosomal recessive). Each type of porphyria carries a different risk that individuals in an affected family will have the disease or transmit it to their children.
Porphyria cutanea tarda (PCT) is a type of porphyria that is most often not inherited. Eighty percent of individuals with PCT have an acquired disease that becomes active when factors such as iron, alcohol, hepatitis C virus (HCV), HIV, estrogens (such as those used in oral contraceptives and prostate cancer treatment), and possibly smoking, combine to cause an enzyme deficiency in the liver. Hemochromatosis, an iron overload disorder, can also predispose individuals to PCT. Twenty percent of individuals with PCT have an inherited form of the disease. Many individuals with the inherited form of PCT never develop symptoms.
If you or someone you know has porphyria, we recommend that you contact a genetics clinic to discuss this information with a genetics professional. To find a genetics clinic near you, contact your primary doctor for a referral.

What triggers a porphyria attack?

Porphyria can be triggered by drugs (barbiturates, tranquilizers, birth control pills, sedatives), chemicals, fasting, smoking, drinking alcohol, infections, emotional and physical stress, menstrual hormones, and exposure to the sun. Attacks of porphyria can develop over hours or days and last for days or weeks.

How is porphyria classified?

The porphyrias have several different classification systems. The most accurate classification is by the specific enzyme deficiency. Another classification system distinguishes porphyrias that cause neurologic symptoms (acute porphyrias) from those that cause photosensitivity (cutaneous porphyrias). A third classification system is based on whether the excess precursors originate primarily in the liver (hepatic porphyrias) or primarily in the bone marrow (erythropoietic porphyrias). Some porphyrias are classified as more than one of these categories.

What are the cutaneous porphyrias?

The cutaneous porphyrias affect the skin. People with cutaneous porphyria develop blisters, itching, and swelling of their skin when it is exposed to sunlight. The cutaneous porphyrias include the following types:
Also called congenital porphyria. This is a rare disorder that mainly affects the skin. It results from low levels of the enzyme responsible for the fourth step in heme production. It is inherited in an autosomal recessive pattern.

An uncommon disorder that mainly affects the skin. It results from reduced levels of the enzyme responsible for the eighth and final step in heme production. The inheritance of this condition is not fully understood. Most cases are probably inherited in an autosomal dominant pattern, however, it shows autosomal recessive inheritance in a small number of families.

A rare disorder that mainly affects the skin. It results from very low levels of the enzyme responsible for the fifth step in heme production. It is inherited in an autosomal recessive pattern.

A rare disorder that can have symptoms of acute porphyria and symptoms that affect the skin. It results from low levels of the enzyme responsible for the sixth step in heme production. It is inherited in an autosomal dominant pattern.

The most common type of porphyria. It occurs in an estimated 1 in 25,000 people, including both inherited and sporadic (noninherited) cases. An estimated 80 percent of porphyria cutanea tarda cases are sporadic. It results from low levels of the enzyme responsible for the fifth step in heme production. When this condition is inherited, it occurs in an autosomal dominant pattern.

A disorder that can have symptoms of acute porphyria and symptoms that affect the skin. It results from low levels of the enzyme responsible for the seventh step in heme production. It is inherited in an autosomal dominant pattern.

What are the acute porphyrias?

The acute porphyrias affect the nervous system. Symptoms of acute porphyria include pain in the chest, abdomen, limbs, or back; muscle numbness, tingling, paralysis, or cramping; vomiting; constipation; and personality changes or mental disorders. These symptoms appear intermittently. The acute porphyrias include the following types:
This is probably the most common porphyria with acute (severe but usually not long-lasting) symptoms. It results from low levels of the enzyme responsible for the third step in heme production. It is inherited in an autosomal dominant pattern.

A very rare disorder that results from low levels of the enzyme responsible for the second step in heme production. It is inherited in an autosomal recessive pattern.

NHGRI Clinical Research in Porphyria

Currently, NHGRI is not conducting research on Porphyria.

Additional Resources for Porphyria

Foundations and Associations

Online Resources for Specific Porphyrias

Cutaneous Porphyrias
Information from the National Library of Medicine
Acute Porphrias
Information from the National Library of Medicine

Friday, September 9, 2016

EPP FDA Announcement Hotel Info

It is time to reserve your hotel room for the FDA meeting! The APF has secured a room block at the special rate of $99/night at the Holiday Inn – College Park (10000 Baltimore Avenue, College Park, MD 20740). The room block discount is available for Sunday, October 23rd and Monday, October 24th. The hotel currently has rooms available surrounding these dates, should you need them, but they are not at this discounted rate.
To book your room, please call the hotel directly at 301-345-6700 and ask to be transferred to Central Reservations. You may also contact the hotel via email: In order to receive the special rate, you MUST say you are with the AMERICAN PORPHYRIA FOUNDATION at the time of booking.
The official deadline to reserve is 9/23/2016, but make sure to book your room ASAP. Rooms are first come, first serve. If the room block fills up, we will request additional rooms, but they are not guaranteed. You are absolutely not required to stay at this hotel, but this is the location of the APF meeting on Sunday, October 23rd. If you have not already, please make sure you RSVP to me for both the APF meeting and FDA meeting.
Here is a list of other hotels in the area:…/WhiteOakCampusInformation/ucm241747.htm.
Please contact me if you have any questions! We are looking forward to meeting everyone!

Wednesday, September 7, 2016

Chicago Patient Education Meeting

The invitations have gone out for the Chicago Patient Education Meeting on September 24th! APF member Ruth Dee Bruno will be hosting this meeting and we hope you will take advantage of this opportunity to meet new friends who share your experiences with porphyria. There will be presentations and a Q & A session for all attendees.
Bring your friends and family! We can't wait to see you all there!
Saturday, September 24, 2016
5:30PM - 7:30PM CDT
2509 Mill Creek Lane
Rolling Meadows, Illinois 60008
Seating is limited - Please RSVP by email: or by phone: 630-450-6769

**If you would like to host a patient meeting of your own, let the APF
know! We will assist you in planning and advertising for your meeting, as well as supply APF materials.**

Thursday, September 1, 2016

Happy First Day Of September

                      Are you ready for Fall? Winter? 
Curl up with a good book, stay healthy and well!

The American Porphyria Foundation thanks all of those who are willing to attend the FDA, getting involved in research opportunities. Your support and love for one another on the sites.
Thank you for all the wonderful videos, donations,
and hosting the APF meetings, the runners, the wristband and tshirt supports.  You all make a difference.  Keep fighting so that one day we may all have a cure!

Key Terms- How do they relate to porphyria? Check the article at this link:

Key Terms- How do they relate to porphyria? Check the article at this link:
Autosomal dominant —A pattern of inheritance in which only one of the two copies of an autosomal gene must be abnormal for a genetic condition or disease to occur. An autosomal gene is a gene that is located on one of the autosomes or non-sex chromosomes. A person with an autosomal dominant disorder has a 50 percent chance of passing it to each of their offspring.

Autosomal recessive —A pattern of inheritance in which both copies of an autosomal gene must be abnormal for a genetic condition or disease to occur. An autosomal gene is a gene that is located on one of the autosomes or non-sex chromosomes. When both parents have one abnormal copy of the same gene, they have a 25 percent chance with each pregnancy that their offspring will have the disorder.

Biosynthesis —The manufacture of materials in a biological system.

Bone marrow —The spongy tissue inside the large bones in the body that is responsible for making the red blood cells, most white blood cells, and platelets.

Chromosome —A microscopic thread-like structure found within each cell of the human body and consisting of a complex of proteins and DNA. Humans have 46 chromosomes arranged into 23 pairs. Chromosomes contain the genetic information necessary to direct the development and functioning of all cells and systems in the body. They pass on hereditary traits from parents to child (like eye color) and determine whether the child will be male or female.

Enzyme —A protein that catalyzes a biochemical reaction without changing its own structure or function.

Erythropoiesis —The process through which new red blood cells are created; it begins in the bone marrow.

Erythropoietic —Referring to the creation of new red blood cells.

Gene —A building block of inheritance, which contains the instructions for the production of a particular protein, and is made up of a molecular sequence found on a section of DNA. Each gene is found on a precise location on a chromosome.

Hematin —A drug administered intravenously to halt an acute porphyria attack. It causes heme biosynthesis to decrease, preventing the further accumulation of heme precursors.

Heme —The iron-containing molecule in hemoglobin that serves as the site for oxygen binding.

Hemoglobin —An iron-containing pigment of red blood cells composed of four amino acid chains (alpha, beta, gamma, delta) that delivers oxygen from the lungs to the cells of the body and carries carbon dioxide from the cells to the lungs.

Hepatic —Refers to the liver.

Neuropathy —A disease or abnormality of the peripheral nerves (the nerves outside the brain and spinal cord). Major symptoms include weakness, numbness, paralysis, or pain in the affected area.

Porphyrin —An organic compound found in living things that founds the foundation structure for hemoglobin, chlorophyll, and other respiratory pigments. In humans, porphyrins combine with iron to form hemes.

Protoporphyrin —A kind of porphyrin that links with iron to form the heme of hemoglobin

                              "Remember....Research is the key to your cure!"

Monday, August 29, 2016

Rare Disease United Foundations Beyond the Diagnosis Art Exhibit

We would like to share that Rare Disease United Foundation's Beyond the Diagnosis Art Exhibit will be the headline story on CBS News Sunday Morning with Charles Osgood airing this Sunday, August 28th at 9:00am EST. We are very excited they are bringing national attention to rare diseases and the issues surrounding rare diseases. This group now has master artists from around the world donating their time and talent to paint children with rare diseases. Their goal is to put a face to all 7,000 known rare diseases.
The Rare Disease United Foundation is a non-disease speciļ¬c, community-based organization, working at a state-level on legislation that has a direct impact on people living with a rare disease, providing support locally, and establishing relationships at local hospitals and medical schools.
For more information about the Rare Disease United Foundation, please visit or email at