Wednesday, April 30, 2014

A special thought

Please take some special time to think of all those

 that are going through such difficult times.

 This world we live in is truly troubled with problems...

Sickness~ physically, mentally and emotionally.

 It can stress us out and make us ill. 

We may have family, friends who help and listen to us but they really never will ever know how we really feel inside we hide and cover it up.

 So please take time to learn about your porphyria friends listen, learn, volunteer just being there means the world to all of us.

www.porphyriafoundation.com

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

Longitudinal Study of the Porphyrias

Longitudinal Study of the Porphyrias
We continue to share ongoing porphyria studies, please consider being a part of them.
The 7201 Longitudinal Study of the Porphyrias is a longitudinal multidisciplinary investigation of the human porphyrias including the natural history, morbidity, pregnancy outcomes in people with these disorders. We expect to enroll at least 600 incident cases during the 5-year study period.
The purpose of this long-term follow-up study is to provide a better understanding of the natural history of porphyrias, as affected by available therapies, and to aid in developing new forms of treatment.
The general research questions are:
What is the prevalence of specific indicators of disease severity, including neuro visceral and cutaneous manifestations, levels of porphyrin precursors and porphyrins, quality of life, long term effects on the liver, kidneys and other tissues, and case-fatality associated with the various forms of porphyria?
What are the relationships between disease severity and progression and various biological characteristics, contributing endogenous and environmental factors and levels of porphyrin precursors and porphyrins?
What is the safety and efficacy of currently used and new therapies for the human porphyrias, especially in the long term?
In order to participate in a study, please contact us at the APF 866-apf-3635. For research studies sign up please email Amy Chapman at Amy.APF@gmail.com


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

Friday, April 25, 2014

Research Studies Available!

Research Studies Available!
Dear APF Members,
We hope you will consider being a part of seven ongoing research studies. Now is the time to join the many other people who are helping porphyria researchers in finding new treatments leading to a cure. In the following E-news we will cover each study individually.
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. 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 affected 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
Please contact the APF 713.266.9617 to see the list and parameters. You will be placed in direct contact with the research team.

APF T-Shirt Awareness Fundraiser
The National Porphyria Awareness Week is in its full force! Let's continue to educate our families, friends, physicians and others about porphyria. If you want to give your loved one a gift and raise awareness for the American Porphyria Foundation consider getting an awareness t-shirt!
T-Shirt Fundraiser is being run and managed by the APF Member and Volunteer Amy Chapman. Please see the website for ordering information and details http://www.porphyriafoundation.com/content/apf-t-shirt-awareness-fundraiser.

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

Thursday, April 24, 2014

A Personal story From a Husband and Caregiver about his wife with AIP

A Personal story from a Husband and Caregiver about his wife with AIP......

Kim Willis-Bregmen

Type of Porphyria: 
Acute Intermittent Porphyria (AIP)
Kim Willis with Husband Blair BregmenMy wife and I live in Otaki which is a small rural community one hour north of Wellington on the North Island of New Zealand. I thought you might be interested in the story of how my wife manages Acute Intermittent Porphyria (AIP) in a country that has no specialist centre for Porphyria and consequently no specialists.
Kim was admitted to our nearest hospital in 2003 with abdominal pain, back pain, vomiting, and sore arms and legs, and was in a very bad way. Her blood pressure rose dangerously high, and she suffered a mini-stroke and multiple seizures and spent days in intensive care whilst tests were done to investigate the diagnosis of porphyria. Kim's grandfather had died of a condition that fit the symptoms of porphyria but was never diagnosed. Her mother was also very sick with multiple hospitalisations at a similar age (Kim was 36 at the time of this first hospitalisation), but was never diagnosed either. In Kim's case, tests were completed and AIP was the diagnosis.
Kim spent 13 weeks in hospital and rehabilitation during this first visit and ended up under the care of a gastroenterologist who had worked in England and had seen similar symptoms in patients diagnosed with porphyria. Kim's need for physiotherapy was a result of the major nerve damage she suffered—she had to learn to use her hands and legs again, at the end of what would prove to be only the first of 30 hospitalisations in a three-year period. For most of these hospitalisations we dealt with the same nightmare over and over again: Kim would be admitted through the Emergency Department, receive delayed treatment because she had no treatment programme in place or she simply received the wrong treatment, which made her condition worse.
Kim's hospitalisations seemed to cycle with the start of her periods, and every month she was hospitalised with an attack that took a toll on her body—she had renal problems, neuropathy, severe weight loss and loss of bone density. At hospital they couldn't stop the acute attacks, they could only wait until the attacks subsided and then stabilise the problems caused by the attacks. Treatment was basically intervention glucose therapy to stabilise her, while eliminating all other complications that were presented.
After Kim's three years in and out of hospital, I began searching the Internet and joined the American Porphyria Foundation. It was here, through members' stories, that I managed to get information about managing this condition and stabilising Kim's health, including finding out what treatment was used overseas. I don't know what we would have done without the Internet and the group support. I suppose we would be still struggling to this day.
I passed my findings on to our specialist, who agreed that we should try heme therapy to control Kim's condition. Kim and I had decided to fund the first dose ourselves, but our specialist presented Kim's case to the health authorities, and fortunately based on the cost of hospitalisation and the damage being done to Kim's body, we got funded. Kim was finally treated with heme therapy for the first time in September/October 2005 with a marked improvement in pain control and reduced time spent in hospital.
Kim was administered heme therapy as an inpatient as we are one hour from the nearest hospital and there was no one local who was certified either to mix and administer the heme or to access Kim's portacath. Now the local district nurse is certified to access the portacath and to draw lab tests to monitor Kim's condition.
Eventually we got to a position where Kim received hemin early in an attack and this stopped the attack before it progressed and did serious damage. Kim's story is really about the struggle of living with AIP for years with no support network, and about the frustrations of not being able to tame the beast until our lucky break with heme therapy.
Kim's final hospitalisation was in February 2007. The months that followed were filled with physiotherapy where Kim learned to use her arms and legs again, as much of her muscle had wasted away and been damaged by neuropathy-related problems.
At the time of her first hospitalisation, Kim had worked for 16 years as a sales executive for a local radio station. The station held her position open for her for a year beginning with her first attack, but as her health didn't improve the position was filled. Kim rejoined the work force part time as an assistant for the managing director of the New Zealand Radio Training School in March of 2008. In January 2009 Kim accepted the job of General Manager for the school. She now works four days of each week in Wellington and one day from home and loves every moment.
Kim has ongoing issues with abdominal pain, back pain and pain in her limbs, which she manages with a better diet and the removal of all things that could precipitate another attack. Kim also takes medication for pain and takes a few days out of her busy job when it all gets too much. All things considered, she now lives a pretty normal life.
We also have a hospital admission process in place that bypasses the emergency department so that Kim can go straight to a ward to have immediate pain relief and heme infusion.
We are confident that with the knowledge we now have, and support networks and treatments in place, we are very well equipped to tackle this purple monster head-on should we ever have the misfortune to encounter its fury again. We have never had to use this new process and hopefully won't have to in the future.
Our son has been DNA tested and carries the same gene for AIP as Kim and her mother. He is 18 and has no complications to date.
Blair Bregmen
Husband and caregiver


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

Wednesday, April 23, 2014

Your HELP Matters!

Your Help Matters!
The APF is able to maintain our physician and patient education programs and many other services because of your support and donations. We are working hard to provide patients, family members, as well as doctors with the precise and correct educational information. All the publications, pamphlets and brochures were designed by our Scientific Advisory Board of porphyria experts.
We strive for a better and healthy future for us and our children, thus we train 20 future experts through the APF "Protect the Future" training program. Please consider making a donation to this program. Yours and your children's future health depends on each of us supporting the training of doctors who will know how to treat the disease and perform research when our present experts retire.
With your help we also fund numerous porphyria research projects (there are 8 ongoing projects now), as well as social media programs. It is easy to think that someone else can keep the APF at work, but it takes all of us. With your help, support and tax deductible donations we make it all possible. Thank you for your contribution. If you have any suggestions, questions, or you would like to make a donation, please contact the APF: 866-APF-3635.

APF Members Promoting Porphyria Awareness
  •  The Cook brothers, Cason and Caul, will continue a HAT DAY tradition for Porphyria Awareness Week 2014. Both brothers have EPP and have set a great example about enhancing awareness of the disease in their home town of Vernon, TX. The boys will raise funds for the APF by hosting HAT DAY where everyone at their schools who wanted to participate could wear a hat in honor of the brothers and bring one dollar for the APF.

  • Amanda Rich is making purple bracelets for survivors. The bracelets are handmade and can be personally designed.

btn_donate_LG

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

Tuesday, April 22, 2014

The APF is YOU!



The American Porphyria Foundation is YOU!  How you may ask?  

Have you given thought to support one of the many Research projects going on?  We have Protect the Future- Doctors Education, Research projects from answering questions to much more.

Have you told your Doctor that there is a Doctor Kit that they can get for Free from The American Porphyria Foundation!  Does he/she need to know about your condition please contact them 1-866-APF-3635 for additional information.

If you have Acute type Porphyria Do you need to purchase an ER comprehensive Kit you should have one and you will have a list of all medical tests, safe/unsafe Drug lists Questions to ask your Dr and so much more it comes in a binder all ready for just 35.00 Dollars what a good value.

Have you considered  making a financial donation to the APF?  What about becoming a member receiving the newsletters, announcements and other valuable information.  Why wait?  These are some of the ways you can help a very rare cause!  But it all starts with YOU!



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

APF T-Shirt Awareness Fundraiser- Do you have your yet! Show yours for a great cause this week!

APF T-Shirt Awareness Fundraiser

Want to give your loved one a gift & raise awareness for the American Porphyria Foundation?

American Porphyria Foundation
T-Shirts for Sale
19.00 Each Includes Shipping ~
 Sizes are S, M, LG, XL, 2 XL, 3 XL

https://images-blogger-opensocial.googleusercontent.com/gadgets/proxy?url=http%3A%2F%2F1.bp.blogspot.com%2F-bbw1WOVz80A%2FUpAfkfukltI%2FAAAAAAAAAbI%2FSLrQEiM6ziQ%2Fs320%2Fapf.jpg&container=blogger&gadget=a&rewriteMime=image%2F*

 You can order a T-shirt by email. Orders can be emailed to porphyriaorders@gmail.com

Please Include: Name, complete address, and phone number.  Also include the Quantity of T-shirts and the size for each one.
 To accept payment: 1 of 2 options I can accept a VISA/MC only. I must have full name on the card, account#, exp. date, 3 digit code on the back of card CVV-.


 Your information is kept secure, never shared or put on a list.
 We will accept a money order & personal checks.  You must have name/address/phone # on them. 


For privacy purposes I will be happy to email you the address to send your check or money order to.   Once I receive the order I will ship out your product. 

All products will be shipped out Priority mail with tracking.  Each person will receive a receipt with their Purchase.
       
"Remember.....Research is the key to your cure!"

*T-Shirt Fundraiser is being ran and managed by APF Member and Volunteer Amy Chapman.

Monday, April 21, 2014

A life indoors for toddler who is allergic to sunlight

A life indoors for toddler who is allergic to sunlight


I was passed this information on this article for those that may have a type or skin condition.  Please read about this little girl.  Please share and pass it along.  Those that may have EPP, CEP or XLP and would like information please contact the American Porphyria Foundation 866-APF-3635.


"Remember....Research is the key to your cure!"
PAINFUL CONDITION: Little Monroe Mills lives with solar urticaria and hopes a hydrotherapy bath will make life more comfortable.
PAINFUL CONDITION: Little Monroe Mills lives with solar urticaria and hopes a hydrotherapy bath will make life more comfortable.
MOST parents take for granted the ability of their children to play outside.
For young Monroe Mills of Nambucca Heads, New South Wales,  going outside in the sun ends in extreme pain and regular hospital visits.
"Monroe suffers from a rare form of eczema that is known as photo-aggravated eczema," her mother Sarah Mills said.
"This means any ultra violet exposure leaves her in pain for days.
"Monroe has battled this condition since birth.
"She has never slept a full night in her life and has spent more time in hospital in a year than most people have in their lives."
Monroe has also been diagnosed with an allergy to the sun known as solar urticaria.
The disease is rare, particularly in someone of Monroe's tender age and despite medical attempts to find permanent relief, sadly there is no cure.
For now, wet wrapping is the only therapy that keeps Monroe out of hospital for extended periods, however it's only a short-term fix and means she must wear a body stocking from head to toe every time she leaves the house.
A Miracle for Monroe fundraising campaign is underway to help Monroe's family purchase a hydrotherapy bath.
It will give Monroe a chance to shine beneath the suffering and discomfort.
Monroe Mills.

Sunday, April 13, 2014

Pierre Mouledoux -House Bill HB 1127-Louisiana

On Monday 4/14/14, APF member, Pierre Mouledoux, will go before the Louisiana State House of Representatives Transportation, Highways and Public Works Committee to testify for the legislation regarding tinted windshields for Medical Exemptions. He is requesting if you have photosensitivity, like with EPP, and live in Louisiana, please contact your Representatives or Senators to support House Bill HB 1127.

To view the proposed Bill go here.

Thank you.

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

Wednesday, April 9, 2014

Your Help Matters!

Your Help Matters!
The APF is able to maintain our physician and patient education programs and many other services because of your support and donations. We are working hard to provide patients, family members, as well as doctors with the precise and correct educational information. All the publications, pamphlets and brochures were designed by our Scientific Advisory Board of porphyria experts.
We strive for a better and healthy future for us and our children, thus we train 20 future experts through the APF "Protect the Future" training program. Please consider making a donation to this program. Yours and your children's future health depends on each of us supporting the training of doctors who will know how to treat the disease and perform research when our present experts retire.
With your help we also fund numerous porphyria research projects (there are 8 ongoing projects now), as well as social media programs. It is easy to think that someone else can keep the APF at work, but it takes all of us. With your help, support and tax deductible donations we make it all possible. Thank you for your contribution. If you have any suggestions, questions, or you would like to make a donation, please contact the APF: 866-APF-3635.

APF Members Promoting Porphyria Awareness
  •  The Cook brothers, Cason and Caul, will continue a HAT DAY tradition for Porphyria Awareness Week 2014. Both brothers have EPP and have set a great example about enhancing awareness of the disease in their home town of Vernon, TX. The boys will raise funds for the APF by hosting HAT DAY where everyone at their schools who wanted to participate could wear a hat in honor of the brothers and bring one dollar for the APF.

  • Amanda Rich is making purple bracelets for survivors. The bracelets are handmade and can be personally designed.

btn_donate_LG

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

Monday, April 7, 2014

A Personal Story From Nathan Wayne Carr- Pass it on

Nathan Wayne Carr ~ How Porphyria can get one feeling low

Type of Porphyria: 
Hereditary Coproporphyria (HCP)
How Porphyria can get one feeling low
Recently, I posted on Facebook how I have been dealing with my mental state. I just need to reach out to my Porphyria family. For the past few months, I have not been answering my telephone or keeping medical appointments. Friends have been calling and the power on the cell has been off. I have been feeling overwhelmed, seems as if I only have enough energy to deal with me. My doctor asked me to see psychologist months ago, but I never went to the appointment. I told myself I could handle it. I definitely needed a Prozac adjustment. I am trying hard to climb out of this space, I keep a lot to myself about how I feel, but I can share with you all easily. I need to be true to myself.
When I was asked to write this article regarding depression and anxiety, my mind went back over twenty years ago, when I finally received a diagnosis. I was given information to contact the American Porphyria Foundation, and I was happily waiting to receive the information packet. When it arrived, I was set and ready to read the Porphyria booklet from cover to cover. I started reading, but every time I got to the symptoms section I kept closing the book. I kept getting stuck on “mental afflictions”, but thought they do not apply to me.
It is morning, and I am awake. I feel as though I arise into a world that is not my own. A world formed from the elements of the earth that my body cannot withstand: the sun, UVA and UVB rays, weeds, trees, mold, grass and a variety of foods. I was once meeting with a doctor and he told me I was in denial of my condition, which was true at the time. I just wanted it to be a bad dream, and I would awake lying on the beach soaking up the sun.
But this is my reality and I too have to except it. I was in a dark place. I felt as though I was in a hole unable to crawl out. I have the support of many wonderful friends and family members that are concerned about me, but, during those times of depression I shut off mostly everyone. I didn’t answer my telephone nor returned calls to those who cared.
I had to find a way to pull myself up out of the self-pity I was wallowing in. I was so tired of the pain, nausea, no appetite, weight loss and the constant medical bills that kept pouring in. One day, with the help of friends, I pulled through. I had to remind myself that this too shall pass. I have been here before and made it. I was focusing on what maybe yet to come and not on what was taking place in the moment; that I am surrounded by a loving family and friends who love me as I am and concerned about my well-being. And that God has always been my rock, provider and protector. I am learning to be content.
I also had to make a decision to take better care of myself by keeping my medical appointments that were regularly scheduled. Yes, I do get tired of going to the doctors. I recently joined the YMCA so that I can strengthen my body and clear my mind. At times, workouts can be painful especially during times of muscle weakness or mild crisis. But with a new determination I arise. I thank God for my parents, sisters, daughters, granddaughters and friends that are understanding and encourage me to take better care of myself regardless of my situation.
I have made an appointment with a psychologist. This time I do plan on building a relationship with this individual to help me cope with these issues and find things to do that I enjoy. I do not know why I feel so selfish when I have to make decisions for myself and my well-being regardless of how others feel. I do think that the medical issues I had last year changed me and my body.
I am satisfied with seeing my new psychologist, being able to speak freely about how I feel and to help me cope with daily living. We know that living with Porphyria is very painful and difficult to carry out everything we have planned. I have just learned to expect the unexpected and that I have to be prepared for any changes in my life. From what I have gone through in the past reminds me that I can cope with the future. I am making it one day at a time.
I had to remove some individuals from my life that just could not understand my illness or caused me stress and it made me feel better. I am spending time concentrating on myself, eating more, walking daily, spending time in the gym and surrounding myself with friends and family that make me laugh and do not try to fix me.
I love myself just the way I am. I was beautifully made by the hands of God. He knew me while I was in my mother’s womb. So he was aware of my situation and is prepared to help me through it.

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

Friday, April 4, 2014

Read this current study!

Online: www.RareDiseasesNetwork.org/porphyrias03/Apr/2014

Study Available!

Dear Amy Chapman
The Porphyria Consortium is pleased to let you know the Carolinas Medical Center & Healthcare System is now enrolling patients for our study:

Clinical Diagnosis of Acute Porphyria (7204)


About This Study

The porphyrias are a group of genetic diseases caused by disturbances in the formation of heme, an essential component of hemoglobin and other proteins, leading to either acute (neurologic) and/or chronic (cutaneous) symptoms.
Acute porphyria is often difficult to diagnose because symptoms may not be specific. Unless the patient is in an active attack, laboratory values typically may not be useful for diagnosing porphyria.
The purpose of this study is to test whether a focused questionnaire and laboratory evaluation tool can better define risk factors associated with possible genetic porphyria.

Can I Join this Study?

To read more about this study, see if you are eligible or find a clinical center near you, please visit our web site:
If you are already participating in this study, please disregard this email.
Do We Have Your Correct Information?
Stay Informed!
We want to keep you informed with the latest news and information. Keeping your contact information up to date can be done quickly and easily on the Web:
Click Here to Update Your Information
About the Porphyrias Consortium
The Porphyrias Consortium is a network of physician scientists, and clinical research resources dedicated to conducting clinical research in the Porphyrias. We Can Help You: Become aware of clinical research and clinical trial opportunities; Connect with expert doctors; Get help in managing your disease. 
Learn More >
The Porphyrias Consortium is a part of the National Institutes of Health's Rare Diseases Clinical Research Network. For more information, visit:www.RareDiseasesNetwork.org
The Rare Diseases Clinical Research Network will make every effort to enroll all the patients we can, but we cannot make any guarantees that we will be able to enroll everyone in a particular study who wants to participate. Participation in research studies is voluntary. Deciding not to participate in a research study does not affect your ability to receive care at any of our Clinical Centers or from other physicians.
Rare Diseases Clinical Research Network
www.RareDiseasesNetwork.org
The Rare Diseases Clinical Research Network (RDCRN) was established by the National Institutes of Health (NIH) to develop research studies for rare diseases, and to encourage cooperative partnerships among researchers at over 150 clinical centers around the world. This increased cooperation may lead to discoveries that will help treat and perhaps prevent these rare diseases, as well as produce medical advances that will benefit the population in general. The Rare Diseases Clinical Research Network is comprised of a Data Management and Coordinating Center and 17 consortia studying over 100 rare diseases.
The Porphyrias Consortium is a part of NIH Rare Diseases Clinical Research Network (RDCRN). Funding and/or programmatic support for this project has been provided by the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) and the NIH Office of Rare Diseases Research (ORDR), National Center for Advancing Translational Sciences (NCATS).
The National Institutes of Health does not endorse or recommend any commercial products, processes, or services. The views expressed in written materials or publications do not necessarily reflect the official policies of the Department of Health and Human Services; nor does mention by trade names, commercial practices, or organizations imply endorsement by the U.S. Government.

For more information please email me your name and phone to see if you qualify for this study Amy.APF@gmail.com


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

Wednesday, April 2, 2014

New APF Video Is Out Now- Check it out


New APF Video Is Out Now

We are glad to announce that the APF has produced a new short video on porphyria. Dr. Lisa Kehrberg, a physician and a patient who suffers from Acute Intermittent Porphyria (AIP), shared her personal experience dealing with the disease.
Dr. Kehrberg discusses a classic porphyria attack along with pain and other symptoms. Being a patient and a doctor herself, Lisa highlights the importance of appropriate tests. She further covers the importance of glucose and Panhematin as treatment options. You can watch the video by following the link below:   https://www.youtube.com/watch?v=XzLhHlcR_ro&sns=fb



"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...