Friday, May 26, 2017

Important EPP Survey URGENT ASAP!!!

Important EPP Survey


Dear EPP Community,
As you know, the diagnosis of EPP is often delayed for many years. Researchers at the Icahn School of Medicine at Mount Sinai are conducting a survey study to learn more about the delayed diagnosis of EPP and how to better educate providers. This is a short survey (~5 min) for adults with EPP, or parents of children with EPP. If you would like to learn more and participate, click on the link below.

Sincerely,
Sajel Lala, MD

Hetanshi Naik, MS, CGC
Manisha Balwani, MD


Comprehensive Porphyria Diagnostic and Treatment Center

Icahn School of Medicine at Mount Sinai
Department of Genetics and Genomic Sciences


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

NORD! Learn the facts





NORD's Rare Disease Database provides brief introductions for patients and their families to more than 1,200 rare diseases. This is not a comprehensive database since there are nearly 7,000 diseases considered rare in the U.S. We add new topics as we are able to do so, with the help of rare disease medical experts.
If you are seeking information about a rare disease that is not in this database, we would suggest contacting the Genetic and Rare Diseases Information Center (GARD) at the National Institutes of Health. NIH has the most complete database of rare diseases in the U.S.
Representatives of patient organizations whose medical advisors are interested in assisting NORD in creating a report on a disease not currently covered in this database may write to orphan@rarediseases.org.
https://rarediseases.org/for-patients-and-families/information-resources/rare-disease-information/
                           
                                 " Remember....Research Is Your Key To A Cure"

Thursday, May 25, 2017

ACT NOW! Important EPP Survey

Important EPP Survey

Dear EPP Community,
As you know, the diagnosis of EPP is often delayed for many years. Researchers at the Icahn School of Medicine at Mount Sinai are conducting a survey study to learn more about the delayed diagnosis of EPP and how to better educate providers. This is a short survey (~5 min) for adults with EPP, or parents of children with EPP. If you would like to learn more and participate, click on the link below.

Sincerely,
Sajel Lala, MD
Hetanshi Naik, MS, CGC
Manisha Balwani, MD


Comprehensive Porphyria Diagnostic and Treatment Center
Icahn School of Medicine at Mount Sinai
Department of Genetics and Genomic Sciences


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

Tuesday, May 23, 2017

Andreea Miller and her Struggle with AIP

Andreea Miller
Type of Porphyria: 
Acute Intermittent Porphyria (AIP)
I started getting symptoms in 2010 after my 19th birthday. Every few months, I would get the “flu,” but it was worse than the flu, because it would knock me out to the point that I couldn’t get out of bed without help. My muscles and bones would not cooperate. This went on for about 2 years. It would always start with a bellyache and what seemed like heartburn. I always felt lethargic, and my bones would hurt. I needed someone to physically force me out of bed. Only hot baths would help, but it would end up being too hot and would worsen my stomach pain. I went to a few urgent care clinics but nothing popped up.
Around the middle of 2011, I began going to both of the two ERs in my town. They would do a full work-up, including blood work, CT scans, EKG, etc. Upon finding nothing, I would then head to the other ER. At one point I was told I had an ovarian cyst and removal would cure my symptoms. I agreed with everything they said. After removal, I was in even more pain than before. Hydrocodone would make me sick when they would give it to me for pain, so I began to refuse it.
In mid-2011, I started to get sick more often. I began experiencing symptoms more and more frequently. I would constantly go from one ER to the other, and they would all tell me nothing was wrong. This continued for about 6 months. Beginning in 2012, it got worse and worse. Finally, the doctors were convinced it was in my head and said I couldn’t keep coming back and forth to the ER if nothing was wrong. They said they needed to perform a psychological evaluation or send me to another place because I was becoming an issue at the hospital by taking away from other patient’s time. My mom fought back and said, “What 20 year old WANTS to be sick this badly?”
My condition deteriorated and by mid-2012, I was having monthly attacks. In September 2012, my grandmother passed away and that was the final straw. We were very close, as she was the one that raised me. About a week before she passed, I was in a walker, at my own request. I had been having spinal taps, more blood work, and many other tests, so I was not able to spend much time with my grandmother in her last days. Many specialists visited me from all over town, but nothing popped up. Many suggested “dehydration” as the cause of my symptoms.
I had a nervous breakdown when my grandmother passed away. I went to the ER in early October 2012, a few weeks after the burial. I had lost so much hope but told my mom I thought we should try the ER “one more time.” While we were there, one of the doctors decided that gallstones were causing my symptoms. They operated immediately and removed my gallbladder. I was released on October 10, 2012. The next day, after leaving the hospital, everything became too overwhelming for me to handle. I went back on October 12, 2012 and called my surgeon to see if my symptoms were possibly the result of surgical complications. He told me to just take more pain medication and that they would not admit me. The last thing I remember is walking into the ER; the staff was well familiar with me at this point. I was admitted for dehydration, malnutrition, etc. While I was in my room I asked my husband to help me to the restroom, I remember my heartbeat in my head, the walls turning black around me and me telling my husband I was going to pass out. I had 3 seizures over a few hours and I had no memory of any of the next three days after that. Supposedly, I drifted in and out, but I remembered nothing. When I woke up, I couldn’t speak to my mom. It felt like my tongue was stuck and I couldn’t move anything. I began choking on my spit, because I had become paralyzed. Later I realized I was having neurological symptoms as a result of not being treated for porphyria. When they all realized I was not faking it anymore they began calling other doctors for a consultation. They called the Texas Tech unit and by that time, I was paralyzed from the mouth down.
Starting on October 12th, I spent 62 consecutive days in hospital without leaving. Dr. Urban came in from Texas Tech. He pulled up a chair and asked my mom if I was having my cycle and when she said no, he concluded that dehydration was not my problem. He said he had a friend that was a blood specialist in NY. He sent my blood to another specialist. A few days later he told me he knew what I had. I was ecstatic. We wanted something manageable, fixable, curable, etc. He sat us down and said, “You have Acute Intermittent Porphyria” and explained it all. He said it’s not curable, however, there are treatments. He said he was not a specialist, but had witnessed this before. I remained paralyzed for a while, but slowly regained functions such as swallowing, which returned first, and then eventually all speaking abilities.
I am still in a wheelchair because of this experience. I have attacks monthly, sometimes even twice a month. I attend physical therapy, and I would be walking if I didn’t have regular attacks that practically erase any progress I have made over the last month. If I had a break from the attacks, I would be able to walk again. I mainly just experience drop foot at this point.
I always get Panhematin for attacks in my Lubbock, TX hospital. Weekly infusions would help tremendously with attacks, but since I cannot afford the treatment, the doctors apologetically told me I will have to wait until I’m in an attack to get my hemin. I have had roughly 85 hospital admissions in my lifetime. I have lost count of the exact number. For over a year and a half, I spent up to 30 consecutive hours going between ERs before I received my diagnosis.

I flew to see Dr. Anderson for the first time in August 2014. I flew to UTMB to get Panhematin and establish a relationship with a porphyria specialist. While I was there, he asked me to be part of a research trial and Dr. Ede explained what the benefits there are to joining the research. I am now enrolled in every possible study that I qualify for and have no regrets about joining the studies.
To learn more about signing up for research studies in your area please visit: 
https://www.rarediseasesnetwork.org/cms/porphyrias
http://www.porphyriafoundation.com/get-involved/join-the-registry

                                                          "Remember....Research Is Your Key To A Cure"

Friday, May 19, 2017

NIH Updated Info on the Porphyrias 3/22/17

 https://rarediseases.info.nih.gov/diseases/10353/porphyria

Porphyrias are a group of blood conditions caused by a lack of an enzyme in the body that makes heme, an important molecule that carries oxygen throughout the body and is vital for all of the body’s organs. Major types include ALAD deficiency porphyria, acute intermittent porphyria, congenital erythropoietic porphyria, erythropoietic protoporphyria, hepatoerythropoietic porphyria, hereditary coproporphyria, porphyria cutanea tarda, and variegate porphyria. The most common type of porphyria is porphyria cutanea tarda. Some of the symptoms of porphyria include blistering, swelling, and itching when the skin is exposed to sun. Other symptoms may also include pain, numbness or tingling, vomiting, constipation, and intellectual disability. There is no known cure for porphyria, but the various types have different courses of treatment, and may include bone marrow transplant.[1]

Most porphyrias are inherited conditions with either an autosomal dominant or autosomal recessive pattern of inheritance. However, some forms of porphyria can be caused by environmental factors such as infections or exposures to certain prescription drugs. Porphyrias caused by environmental factors are called sporadic or acquired porphyria.[2][3]
Last updated: 3/22/2017

The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
Signs and SymptomsApproximate number of patients (when available)Help
Abnormal urinary colorVery frequent
(present in 80%-99% of cases)
Abnormality of the heme biosynthetic pathwayVery frequent
(present in 80%-99% of cases)
Abdominal painFrequent
(present in 30%-79% of cases)
Abnormal blistering of the skinFrequent
(present in 30%-79% of cases)
Abnormality of skin pigmentationFrequent
(present in 30%-79% of cases)
AnorexiaFrequent
(present in 30%-79% of cases)
Chest painFrequent
(present in 30%-79% of cases)
ConstipationFrequent
(present in 30%-79% of cases)
Cutaneous photosensitivityFrequent
(present in 30%-79% of cases)
DiarrheaFrequent
(present in 30%-79% of cases)
FatigueFrequent
(present in 30%-79% of cases)
HypertensionFrequent
(present in 30%-79% of cases)
Nausea and vomitingFrequent
(present in 30%-79% of cases)
PruritusFrequent
(present in 30%-79% of cases)
Sleep disturbanceFrequent
(present in 30%-79% of cases)
Cerebral palsyOccasional
(present in 5%-29% of cases)
Dupuytren contractureOccasional
(present in 5%-29% of cases)
FeverOccasional
(present in 5%-29% of cases)
HallucinationsOccasional
(present in 5%-29% of cases)
ParesthesiaOccasional
(present in 5%-29% of cases)
SeizuresOccasional
(present in 5%-29% of cases)

Last updated: 3/10/2017

Many of the signs and symptoms of porphyria are similar to those of other more common diseases. Also, because porphyria is rare, many doctors have not seen cases of the disorder before, making it more difficult to diagnosis. Because porphyria's signs and symptoms usually aren't distinctive, laboratory tests are required to make a definitive diagnosis and to determine which type of porphyria is involved.[4] If your doctor suspects porphyria, he or she may recommend the following tests:[4][5]
  • Urine test. If you have a form of acute porphyria, a urine test may reveal elevated levels of two substances: porphobilinogen and delta-aminolevulinic acids, as well as other porphyrins.
  • Blood test. If you have a form of cutaneous porphyria, a blood test may show an elevation in the level of porphyrins in the liquid part of your blood (plasma).
  • Stool sample test. Analysis of a stool sample may reveal elevated levels of some porphyrins that may not be detected in urine samples. This test may help your doctor determine your specific type of porphyria.
Genetic testing may also be used to confirm the diagnosis.[5]
Last updated: 11/4/2016

The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.

Management Guidelines

  • Orphanet Emergency Guidelines is an article which is expert-authored and peer-reviewed that is intended to guide health care professionals in emergency situations involving this condition.  

    Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

    Clinical Research Resources

    • ClinicalTrials.gov lists trials that are studying or have studied Porphyria. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

      Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.
    • Orphanet lists European clinical trials, research studies, and patient registries enrolling people with this condition. 

      Patient Registry

      • The Porphyrias Consortium is a team of doctors, nurses, research coordinators, and research labs throughout the U.S., working together to improve the lives of people with this condition through research. The Porphyrias Consortium has a registry for patients who wish to be contacted about clinical research opportunities.

        For more information on the registry see: http://rarediseasesnetwork.epi.usf.edu/registry/index.htm

        Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

        Organizations Supporting this Disease

          Social Networking Websites

          • RareConnect has an online community for patients and families with this condition so they can connect with others and share their experiences living with a rare disease. The project is a joint collaboration between EURORDIS (European Rare Disease Organisation) and NORD (National Organization for Rare Disorders).

            Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

            Financial Resources

            • The HealthWell Foundation provides financial assistance for underinsured patients living with chronic and life-altering conditions. They offer help with drug copayments, deductibles, and health insurance premiums for patients with specific diseases. The disease fund status can change over time, so you may need to check back if funds are not currently available.

              These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

              Where to Start

              • Genetics Home Reference (GHR) contains information on Porphyria. This website is maintained by the National Library of Medicine.
              • MayoClinic.com provides information about porphyria. Click on the link to access this information.
              • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
              • The National Digestive Diseases Information Clearinghouse (NDDIC), part of the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), offers information on this condition. Click on the link to view information on this topic.
              • The National Human Genome Research Institute's (NHGRI) website has an information page on this topic. NHGRI is part of the National Institutes of Health and supports research on the structure and function of the human genome and its role in health and disease.
              • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

                In-Depth Information

                • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
                • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
                • The Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
                • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
                • PubMed is a searchable database of medical literature and lists journal articles that discuss Porphyria. Click on the link to view a sample search on this topic.


                  Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question
                  • I would like to be tested for porphyria. How is this condition diagnosed? Is genetic testing available? See answer
                  • What can you tell me about acute intermittent porphyria and Chester porphyria? See answer


                  1. Porphyria. National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK). February 26, 2014; http://www.niddk.nih.gov/health-information/health-topics/digestive-diseases/porphyria/Pages/facts.aspx. Accessed 5/26/2015.
                  2. Porphyria. MedlinePlus. September 24, 2014; http://www.nlm.nih.gov/medlineplus/porphyria.html. Accessed 5/26/2015.
                  3. Porphyria. Genetics Home Reference. July 2009; http://ghr.nlm.nih.gov/condition=porphyria. Accessed 5/26/2015.
                  4. Porphyria. MayoClinic.com. May 20, 2014; http://www.mayoclinic.com/health/porphyria/DS00955/METHOD=print. Accessed 11/4/2016.
                  5. Tests for Porphyria diagnosis. American Porphyria Foundation. http://www.porphyriafoundation.com/testing-and-treatment/testing-for-porphyria/tests-for-porphyria-diagnosis. Accessed 11/4/2016.
                                                               "Remember....Research is your Key to a cure"

                  Friday, May 12, 2017

                  Continue Raising Awareness Year Round

                  THANK YOU!
                  Continue Raising Awareness Year Round
                  We, at the American Porphyria Foundation, would like to THANK YOU for participating in National Porphyria Awareness Week. We are very grateful for everyone who submitted their photos and notified us of their awareness activities. If you are still interested in continuing to RAISE PORPHYRIA AWARENESS,contact the APF.
                  If you have not shared your photos with the APF, please do so, we would love  to see them. Don't stop now! Continue to RAISE PORPHYRIA AWARENESS!
                   
                  The challenge of living with porphyria starts with how little is known about it among friends, family and the medical community.   Here are some suggestions for ways that you can help:
                  *SHARE knowledge about porphyria at your doctor's offices and local hospitals.  You might suggest that they host a seminar or grand rounds on porphyria; ask if there is a local meeting where you can hand out materials.
                  *ASSIST at medical conventions or health fairs to educate family, friends, and physicians on porphyria.
                  *Tell your story to local media. Television, newspapers and community magazines are looking for human interest stories about people who have encountered a major illness and have undertaken the challenge.
                  *VOLUNTEER your talents or skills to help achieve the educational programs of the APF.  For example, donate one of your paintings, sculpture, computer expertise, business acumen etc. for our fall raffle or to help APF.
                  *HOLD a community race, car wash or other fund raising activity.
                  *HONOR your loved one with a gift to the APF for a birthday, anniversary, holiday or memorial tribute.
                  *WRITE a letter to friends and family asking them to consider making a donation;
                  The APF can help you accomplish this goal by providing materials:
                  ·        Porphyria Brochures
                  ·        A Porphyria Live DVD
                  ·        Fact sheets
                  ·        A PowerPoint Presentation
                  ·        Information for Grand Rounds
                  ·        Ideas to set up Medical Seminars
                  ·        Ideas to exhibit at a Health Fair
                  ·        Information to gain press
                  ·        Doctor packets sent to your doctors
                  ·        Press Releases
                  Contact the APF TODAY for more information at 1.866.APF.3635!

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


                  Important EPP Survey URGENT ASAP!!!

                  Important EPP Survey Dear EPP Community, As you know, the diagnosis of EPP is often delayed for many years. Researchers at the Icah...