Wednesday, January 29, 2014

New Orleans Marathon~Rock 'n' Roll Race Day For EPP Disease! 2/2/2014 Training buddies: Polly Barton Harvard Family & Friends.




New Orleans Marathon~Rock 'n' Roll Race Day For EPP Disease!
2/2/2014 Training buddies: Polly Barton Harvard Family & Friends.  


APF member, Polly Barton Harvard is running for EPP.  Join me, Desiree Lyon Howe, in participating in her event.  

Here is what Polly has to say about running the marathon and why.

I will be raising awareness for my wonderful daughter who has EPP.

I hope family and friends and others interested in porphyria will take a few minutes to donate, because it goes to the Protect the Future program to train young doctors as future porphyria experts.

Many thanks for your support and don't forget to forward this to anyone who might want to donate, too.  Everyone is invited to participate in this wonderful cause.  Please sign up today or contact to the American Porphyria Foundation.  866.apf.3635

Donating through this website is simple, fast and totally secure.  You can donate any amount you want on my FirstGiving site.http://www.firstgiving.com/fundraiser/pollybartonharvard/neworleansmarathon

For more information on EPP, see:
  
Thank You,
Polly Barton Harvard



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

Friday, January 24, 2014

URGENT VOLUNTEERS NEEDED ASAP!

My name is Amy Chapman I work along with the APF we are currently looking for patient volunteers that have Porphyria and willing to do research, if you would like to reach out to me by email it’s very simple and short to get you enrolled.  Here is some information about it below, there is a limited time to sign up by Jan 30, 2014.  We need patient volunteers of all types to join these studies below make an appointment with me today.  Take 10-15 minutes and know your date of diagnosis, a few short questions and know that your sharing in a wonderful work! 

Please email me Amy.apf@gmail.com!

The RDCRN Patient Contact Registry is a method by which patients with rare diseases can register themselves with the RDCRN in order to be contacted in the future about clinical research opportunities and updates on the progress of the research projects. The contact registry is anonymous and free of charge.
You (or your child) are invited to participate in a research project that will develop a nation-wide registry for patients.


How do I join?
The Contact Registry asks you for information such as your (or your child's) name, address, birth date, place of birth, email address, or items relevant to your (or your child's) disorders.
How does the Contact Registry Work?
  1. Click on the name of your porphyria provided in the list to the right.
  2. The Contact Registry Description and Purpose information will appear. When you are ready to join, click the "Join" button on the bottom center of your screen.
  3. You will then be asked to read and agree to the Authorization Agreement
  4. After you have read and agreed to the authorization, the Contact Registry form will appear on your screen.

Select one of the types of porphyrias below to join the Contact Registry for that porphyria:

Frequently Asked Questions about the RDCRN Contact Registry
What are the benefits of joining the Contact Registry?
  • Communication of open recruitment for clinical studies of your disease
  • Notice of opening of new clinical sites doing research on rare diseases
  • Information on activities from affiliated awareness and advocacy groups
...and future opportunities to participate in research!
Who Can Join the Contact Registry?
We encourage patients from all 50 states in the United States and every country to join the Contact Registry.
Is my information kept private?
Yes. Once you have entered and submitted this information online, the data will be stored in a secure, computerized database.
No personal identifying information (such as your name, address, telephone number) will be given to anyone without your expressed approval.


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

 

Thursday, January 23, 2014

Just one of them days....

Have you ever had one of these DAYS?.........Your not alone, please take some time for yourself, to rest, relax, enjoy a special moment or just do nothing at all, we have a wonderful family to share our thoughts and ideas know that we care for each and everyone of YOU!

 



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

 

Wednesday, January 22, 2014

What Do Interior Designers The APF & Protect the Future Program all have in common?



Do we have any interior designers who are members of the APF? 

NO!   We are not redecorating our office, rather, we have a wonderful opportunity to gain support for the Protect the Future Program to train future porphyria experts that involves interior designers.

Therefore, if you are an interior designer, please contact Desiree Lyon Howe at the APF:  866.APF.3535.



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


Sign me up



Tuesday, January 21, 2014

Amber Peacock and her goal to raise funds for White Dental Veneers she has CEP

White Dental Veneers

Raised: $0.00
Goal: $12,000.00

Created by
Amber Peacock
456 Friends
ContactEmbed

Since I was born with a rare, congential condition called erythropoietic porphyria, simply put I am extremely allergic to the sun, but also alongside the extremely painful epidermis affe... more


SHARES

Created by Amber Peacock on January 20, 2014


Since I was born with a rare, congential condition called erythropoietic porphyria, simply put I am extremely allergic to the sun, but also alongside the extremely painful epidermis affects of my condition, my teeth grew in dark due to my body depositing of porphyrins all throughout my body. I have always wanted to have a big, beautiful, sparkly white smile. But could never afford it, so I was told about this site... and I'll be honest, I hate the concept of asking for money; but, I also hate how I feel when strangers stare at me with disgust when I smile at them. So I am hoping that maybe if I have this open for long enough, my dream of finally completing my ideal version of myself will come true? Every cent means the world to me, and then some.

Thank you very much.
A.P.
"Remember.....Research is the key to your cure" 

Monday, January 20, 2014

Mobile App! Acute Porphyrias http://porphyriadrugs.com


  1. http://porphyriadrugs.com

Drug Safety

S
Very likely to be safe for prolonged use by individuals with an acute porphyria, based on consistent evidence.
PS
Probably safe for prolonged use by individuals with an acute porphyria, based on evidence that is either inconsistent or insufficient to be conclusive.
PU
Probably unsafe for prolonged use by individuals with an acute porphyria, based on evidence that is either inconsistent or insufficient to be conclusive.
U
Very likely to be unsafe for prolonged use by individuals with an acute porphyria, based on consistent evidence.

Search Tips

The same drug may appear in more than one database, so you may see repeated results and, in some cases, the drug's safety may be different. Please be careful in these cases, the decision to use such a drug or not depends on your level of confidence in the database. If a drug is not listed in any of the databases consider it unsafe.
  • Type any part of the generic drug name, the brand name, the drug classification or the source database.
  • Use double quotes (") for exact matches, e.g. "safe".
  • Use at least 3 letters and no spaces (unless using double quotes). Use no more than 5 for a better chance of finding it.
  • Search is case insensitive (using all lower case is fine).



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


Thursday, January 16, 2014

Public service message and the story of Megan Railing with AIP

Were are in need of AIP Patients with Frequent monthly attacks for a research project.  To get enrolled in a study please contact me Amy.APF@gmail.com, why not explore great health options, participating in research not only benefits you but for all one day finding a cure.  If you have questions please ask were here to listen and help YOU.

Enjoy this story.

Megan Railing

Type of Porphyria: 
Acute Intermittent Porphyria (AIP)
Megan’s story is an inspirational one of a mother’s love for her daughter. Denise Railling’s account of Megan’s courageous battle to live is a moving example for us all.
Megan and Denise RaillingMegan was a typical healthy teenager, participating in marching band, swim team, babysitting, and living a great life until the summer of her sixteenth year. For no explainable reason, she became quite ill with persistent vomiting, abdominal symptoms, bowel dysfunction and major thirty pound weight loss in six weeks.
We made multiple visits to the ER where she was given fluid and morphine and sent home with no diagnosis. She was, however, prescribed numerous psych evaluations. Later, during her senior year, she was diagnosed with a superior mesenteric artery syndrome from the massive weight loss and had TPN and tube feedings followed by surgery to relieve the duodenal obstruction from the mesenteric artery syndrome. Megan still managed to graduate with honors. On her graduation band trip to Florida, Megan became very ill. This time she developed a right lower leg neuropathy. We began to see a pattern in her symptoms: abdominal pain, persistent nausea, leg pain and neuropathy. Yet, none of the physicians agreed. When she developed complete bowel dysfunction, we were told she would need a total colectomy and ileostomy. However, a second opinion at the University of Iowa advised against surgery as Megan did not have underlying bowel function. 
Megan attended the university in the fall and did well until she became ill again. Our family doctor tried to prevent the episodes, but Megan lost function in her legs and bladder. We brought her home from college and admitted her to our local hospital. After a week of tests, she was discharged with no ability to walk, no bladder function and no diagnosis. She even had to catheterize herself, a terrible problem that led to a big clue. We did note that her urine was often very dark. When I brought Megan home from the hospital, she asked me, “Am I going to die.” Shaken, the only answer I could give was, “I don’t know.“ That night I could not sleep, so I poured over the records we had collected over the past three years. Since there was no endocrine or metabolic evaluation, I searched for metabolic disorders that mimic Guillian Barre. Acute intermittent porphyria was in the top five choices. The more I read, the more I believed AIP was Megan’s problem. I left a copy of an article about porphyria on her dresser and while I was out shopping, she called me astounded at what she was reading. I then spoke with the endocrineologist at my office, and he ordered tests, which were positive. He promptly ordered Panhematin and physical therapy and within three months Megan was walking and feeling much better. She was placed on Lupron and monthly Panhematin and has done very well on that regimen. However, she had a severe attack and paralysis after surgery for a septic thrombophlebitis from a PICC line. Her recovery has been much slower this time, although she is doing well enough to stay in college. 
We recently attended the Patient Education Meeting in Houston, and it was wonderful. Megan had been feeling so alone and “different” from everyone else. It was so important for her to attend this meeting to meet other people with porphyria and find HOPE. She realized that she can LIVE and have a full life. Her excitement on the way home was fantastic, too. As a mother, it was marvelous to hear Megan express HOPE for the first time in years.
We are so thankful for everything the foundation does to help. We want to help, too, so Megan’s case was presented at the internal medicine grand rounds of the residency program where I work. We were thrilled and hope this will teach doctors that porphyria is more than a word in their textbook. Next, we will meet with the director of the emergency medicine residency program to ask if they will present her case. It is ironic that their own journal of emergency medicine states that any teenage girl who presents on several occasions within a six month period of time with the same set of symptoms should be tested for porphyria. 
Denise and Megan Railling
Editor’s note: We are very proud of Megan and hope her story has encouraged you. Just as their case has been presented at their hospital, you can ask your hospital host a porphyria awareness program.

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

Saturday, January 11, 2014

My Life with EPP as told by James Beadles

James Beadles




Type of Porphyria: 
Erythropoietic Protoporphyria (EPP)
I live life with EPP! I was diagnosed when I was six by a dermatologist named Carl Anderson who has since passed away. Up until my diagnosis, my parents had heard it all from a number of doctors. I was allergic to a medicine, or I was allergic to weed killer, to simply saying, "it is just a rash." All the while, I would scream in pain. My parents would help by placing cool clothes on me.
I live in sunny southern California in a beach town. All my friends were into surfing and sailing. The outdoors is part of life in SoCal. I did not let my EPP stop me from enjoying the outdoors— though sometimes I paid dearly. I played baseball until high school. I learned to sail. I ran in triathlons and half-marathons. I snow skied and water-skied. I played golf. All the time I endured the funny looks and mean things said about the way I looked and had to dress. I did not let it stop me. Sure, it bothered me when I was young. It hurt. However, as I got older I saw it as other people's problem, not mine. I was living my life the best way I knew how. I was not going to let EPP stop me from enjoying life.
I had a doctor once who told my parents I should move to Seattle where it was cloudy more often. He said I should learn to play chess and ping-pong—indoor sports instead of baseball and golf and sailing. My parents would hear nothing of it; they knew I was going to live my life the way I wanted to live.
I have had two liver transplants because of my EPP. The porphyrins dumped into the liver and made it cirrhotic. I had my first transplant when I was 27 years old. The liver lasted 12 years, during which I was able to continue my normal active lifestyle. I married and had two kids. Neither of my kids shows symptoms of EPP.  In fact, one wants to be a lifeguard!  Both of my children can run around on the beach all day without being burned, well, aside from basic sunburn. Their mother and I lather them with sunscreen when they go out to the beach or are playing soccer or swimming. The boys are six and eight and I am confident they do not have EPP.
My second transplant was more dramatic. I was 39, my liver and kidneys failed, and I went into a coma. I was transplanted three weeks later and subsequently spent the next eight months in UCLA Medical Center. I was on dialysis for six months after which by some miracle my kidneys began to work again. The transplant and hospitalization took a great toll on my body. I am no longer able to be as active as I was. I have neuropathy in my feet from the kidney failure and nerve damage from being in bed for so long. I am twenty pounds underweight and weak. I like to joke that I am a 42-year old living in a 92-year-old body. I still live with the EPP and who knows how long this liver will last. I take infusions of Panhematin to slow the progression of porphyrins into the liver (this is the hope anyway). The key is I am still living.
I still endure the looks from people, like the other parents at the soccer field when I watch my kids play. I do not care if they think it is odd someone wearing long pants, long sleeves and gloves on a 90-degree SoCal day. To me, they have a problem, not me. People do what they have to do to cope. I am not going to let EPP keep me from enjoying my life and enjoying watching my kids grow up. My kids understand that Dad has to be careful of the sun. They understand Dad is not as strong as he once was because of his surgery. They understand why Dad has to wear protective clothing in the pool; they are just happy that Dad is in the pool with them! Grown-ups should be so understanding.
I hope you enjoy my story and I am anxious to hear how others with EPP are LIVING, not just coping or suffering. Someday there will be a cure for this, and I plan on being around to see it!

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

Tuesday, January 7, 2014

Start your health off Right!


Start your health off right! How you may ask?

If you have not joined the below please contact me at amy.apf@gmail.com to take a few moments to register its that simple, secure and we need your help. Why is my Participation Important?

Maintaining the Relationship Between Patients and Researchers is Vital!

The Contact Registry has been created to inform patients and/or parents of patients of clinical research studies. Joining the contact registry will help researchers identify and recruit patients who are eligible for participation in future research studies.

Information contained within this registry will be used for recruitment to research studies directed at improving our knowledge and treatment of these rare diseases. The continued efforts of researchers seek to improve the quality of life for all who are suffering from these rare diseases. The work of the researchers cannot occur without the partnership with patients.

Patients who participate in research make it possible for researchers to find new treatments, create new studies, and work for the improvement of lives that are effected by rare diseases.

By joining our registry, you will be contributing to the research of the Rare Diseases Clinical Research Network.

Participation in Research Makes it Possible for Researchers to:

provide the best possible care to patients affected by rare diseases
improve methods in studying your disease
achieve deeper understanding of your disease and its causes
find new treatments
create new studies
The RDCRN has over 150 clinical sites available, and is adding more every day!

Let us keep you informed of research opportunities - Join the RDCRN Contact Registry!


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

Monday, January 6, 2014

Join the studies are you registered?




Now is the time to join the many other people who are helping porphyria researchers find new treatments leading to a cure.

In most research studies, you will not be asked to take an experimental drug, rather, you will be asked to contribute your blood , DNA and/or urine and answer pertinent questions.

Please see the list and parameters below and contact Desiree at the APF if you are interested or have questions. You will be placed in direct contact with the research team:

To be eligible for the Longitudinal Study of the Porphyrias:
  1. Must have a confirmed diagnosis of one of the porphyria
  2. It is preferable if patients are able to come to a participating center to be clinically evaluated (through insurance if possible)
  3. If patients cannot come to a center they can be seen by a local physician and have their records sent to a participating center along with the necessary samples (DNA, porphyria labs, etc)



To participate in the following studies the patient MUST already be in the Longitudinal Study:
  1. Erythropoietic Protoporphyrias: Studies of the Natural History, Genotype-Phenotype Correlations, and Psychosocial Impact
  2. Mitoferrin-1 Expression in Patients with Erythropoietic Protoporphyria
  3. Quantification of the Effects of Isoniazid Treatment in Erythrocyte and Plasma Protoporphyrin IX Concentration and Plasma Aminolevulinic Acid in Patients with Erythropoietic Protoporphyria


To participate in Clinical Diagnosis of Acute Porphyrias, there are two parts:

  1.  Part 1 is looking for 1st degree relatives of patients with confirmed DNA diagnoses of the acute porphyrias (the patients who are subsequently diagnosed with an acute porphyria through this study are then eligible to participate in the Longitudinal Study)-We are only recruiting for this part right now
  2. Part 2 is looking for patients with mild elevations in urine porphyrins and symptoms consistent with acute porphyria but who do not have a confirmed diagnosis yet (again, patients who are subsequently diagnosed with an acute porphyria through this study are then eligible to participate in the Longitudinal Study) 
**For this study, patients do not need to visit a participating center but it is preferred that they do.



To participate in Hydroxychloroquine vs. phlebotomy for porphyria cutanea tarda :


  1.  Patients must have a biochemically confirmed diagnosis of PCT, these patients are also eligible to be in the Longitudinal Study however it is not required that they be in the Longitudinal Study to be in this study
  2. They must also be over 18 years of age and willing to take precautions to prevent pregnancy
  3. For this study the patients need to visit a participating center


There are also several new studies that have been added, namely, a study with Panhematin and research for X linked EPP.   Go tohttp://www.porphyriafoundation.com/get-involved/join-the-registryfor more info and directions on getting involved in these studies.




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

Advance Care Planning- Prepare NOW!

Making decisions in health care and ethics. Why prepare?  Prepare for the unexpected. It seems we often go through the motions of prepar...