Wednesday, June 25, 2014

Listen with Your Heart- Part One

When someone close to you who has Porphyria starts to talk about the disease, do you change the subject? Do you stand in silence, worried that you'll say the wrong thing?  Say nothing at all and walk away? Are you tired about hearing about the problems?  If so, you share these feelings with many others.

How do you talk to someone who has Porphyria?

When talking with someone who has Porphyria, it is important to listen.  Try to hear and understand what the person is saying about he or she feels.  Don't make light of what he or she is saying or try to change the way they are feeling or acting.  Put your feelings and fears aside.  Let the person know that you are open to talking whenever they feel like talking.  Or if the person doesn't feel like talking that's OK, too.

In these series I wanted to share some helpful ideas on how to be supportive and helpful when you talk to someone who has Porphyria.  You can learn how to make the person with Porphyria know that they have someone they can truly count on.  We call this kind of communication "listening with your heart."

Next week well touch on how Porphyria affects the person, the mate, family members and friends and why we need your support, love time and attention.

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

Sunday, June 22, 2014

10 Things to Remember When You Feel Lost and Alone- Leave your thoughts and comments

10 Things to Remember When You Feel Lost and Alone

―Charles Bukowski
“This morning I felt lost and alone as I was driving home after a brutal breakup with my boyfriend.  I turned on the radio and the Michael Jackson song ‘You Are Not Alone’ was playing.  A few seconds later, at the exact moment the chorus began, I passed a huge billboard sign with big black letters that read, ‘YOU ARE NOT ALONE!’”
That’s the opening paragraph of an email I received today from a reader named Ella.  It made me smile because I love when life delivers seemingly coincidental, positive messages like that, right when we need them most.
However, the rest of Ella’s email further described her ongoing struggle with feeling “lost and alone” in life.  Which got me thinking…
Why do people have to feel this way?  What’s the point of it all?  Millions of people in this world, all of them craving connection, and looking for specific experiences and people to satisfy them, yet inadvertently isolating themselves in the process.  Why?  Was the planet put here just to nourish our loneliness?
The more I’ve experienced and explored my own feelings of uncertainty and loneliness, the more I’ve realized how necessary these feelings are.  It’s good for us to spend time exploring unknowns, alone.  It gives us an opportunity to discover who we really are and what life is all about.
Here are some things to keep in mind when you feel lost and alone:

1.  You are not alone in being alone.

So many of us are fighting the same exact battle alongside you.  We are all in this together.  So no matter how embarrassed or pathetic you feel about your own situation, know that there are others out there experiencing the same emotions.  When you hear yourself say, “I am all alone,” it’s just your worried mind trying to sell you a lie.  There’s always someone who can relate to you.  Perhaps you can’t immediately talk to them, but they are out there, and that’s all you need to know right now.

2.  Sometimes when you’re lonely, you need to be alone.

Sometimes you need to be alone, not to be lonely, but to enjoy a little free time just being yourself and finding your way.  In other words, the moments you feel lonely are the moments you may most need to be by yourself.  This is one of life’s cruelest ironies.
We need solitude, because when we’re alone we’re detached from obligations, we don’t need to put on a show, and we can hear our own thoughts and feel what our intuition is telling us.  And the truth is, throughout your life there will be times when the world gets real quiet and the only thing left is the beat of your own heart.  So you’d better learn the sound of it, otherwise you’ll never understand what it’s telling you.  

3.  You have to be a little lost first to find what you’re looking for.

Not until you are lost in this world can you begin to find your best path.  Realizing you are lost is the first step to living the life you want.  The second step is leaving the life you don’t want.  Making a big life change is pretty scary.  But you know what’s even scarier?  Regret.
I can tell you from my own life experience that I’ve found love, lost it, found it, lost it and then I found it once again.  But each time what I found was more incredible than the last.  So remember that everyone suffers in life at some point.  Everyone feels lost sometimes.  The key is using your experiences to grow.  When you apply what you’re learning to your future choices and actions, you move forward not backward.  You become stronger and wiser.  It’s not easy, but it’s worth it in the end.

4.  It’s all about accepting the reality of what is.

You cannot find peace by avoiding life.  Life spins with unexpected changes; so instead of avoiding it, take every change and experience as a challenge for growth.  Either it will give you what you want or it will teach you what the next step is.  And remember, finding peace in life does not mean to be in a place where there is no noise, no challenges, and no hard work.  It means to be in the midst of those things while remaining calm in your heart.
Honestly, life is too short to spend at war with yourself.  The biggest disappointments in our lives are often the result of misplaced expectations.  Letting go of needless expectations is your first step to happiness.  Come from a mindset of peace and acceptance, and you can deal with almost anything and grow beyond it.

5.  In every situation, YOU choose your attitude.

Be determined to be positive.  Understand that the greater part of your misery or unhappiness is determined not by your circumstances, but by your attitude.  A happy person is not a person who’s always in a good situation, but rather a person who always has a good attitude in every situation.  So smile at those who often try to begrudge or hurt you; show them what’s missing in their life and what they can’t take away from you.  Doing so doesn’t mean forgetting or giving in, it means you choose happiness over hurt.  

6.  Being alone does not mean you are lonely, and being lonely does not mean you are alone.

The trouble is not always in being alone; it’s being lonely in the presence of others.  One can be lonely in the midst of a crowd.  Wouldn’t you agree?  So keep this in mind and choose your relationships wisely.  It’s always better to be alone than to be in bad company.  And when you do decide to come back for someone, do so because you’re truly better off with this person.  Don’t do it just for the sake not being alone.

7.  Everyone you care about does NOT need to support your decisions.

Friends and family won’t always support your goals, but you must pursue them anyway.  Follow your intuition.  Following your intuition means doing what feels right, even if it doesn’t look or sound right to others.  Only time will tell, but our human instincts are rarely wrong.  Even if things don’t turn out as you anticipated, at least you won’t have to spend the rest of your life wondering what could have been.  So don’t worry about what everyone else thinks; just keep living and speaking your truth.
Ultimately, you know you’re on the right track in life when you become uninterested in looking back, and eager to take the next step, regardless of what anyone else thinks.

8.  You are not who you used to be, and that’s OK.

You’ve been hurt; you’ve gone through numerous ups and downs that have made you who you are today.  Over the years, so many things have happened – things that have changed your perspective, taught you lessons, and forced your spirit to grow.  As time passes, nobody stays the same, but some people will still tell you that you have changed.  Respond to them by saying, “Of course I’ve changed.  That’s what life is all about.  I’m still the same human being, just a little stronger now than I ever was before.”

9.  The best you can do changes from day to day.

Always do your best.  And realize that “your best” is going to change repeatedly.  For instance, it will be different when you are healthy as opposed to sick.
Under any circumstance, simply do your best in the present moment and you will avoid self-judgment, self-abuse, and regret.  And remember that no matter what’s happening, you can efficiently fight the battles of just today.  It’s only when you add the battles of those two abysmal eternities, yesterday and tomorrow, that life gets overwhelmingly complicated.  It’s necessary, therefore, to let yourself live just one day at a time – just today – just right here, right now.  And do the best you can in it.  

10.  It all matters in the end – every step, every regret, every smile, and every struggle.

The seemingly useless happenings add up to something.  The minimum wage job you had in high school.  The evenings you spent socializing with colleagues you never see anymore.  The hours you spent writing thoughts on a personal blog that no one reads.   All of this has strengthened you.  All of this has led you to every success you’ve ever had.  All of this has made you who you are today.

The floor is yours…

What helps you stay positive when you feel lost and alone?  What’s something encouraging you try to keep in mind when you’re up against lots of uncertainty?  Leave a comment below and share your thoughts.

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

Wednesday, June 18, 2014

Oliver's Medical Journey with CEP

Oliver's Medical Journey

Raised: $8,355.00
Goal: $10,000.00
Created by
Nichole Zimmardo
476 Friends

Since the day he was born, our baby Oliver has been through more than most of us have in our entire lives. Without warning I was told that Oliver needed to come out early due to compl... more

Updated posted by Nichole Zimmardo 9 months ago
Wow, this past week has been busy to say the least, and it's still not over. Last Tuesday, Oliver spiked a temperature that raised some concern. Now because Oliver has a central line, we were automatically admitted. Turns out he had an infection in his line, which was really scary. They pumped him full of antibiotics and luckily they got the infection under control. Meanwhile, Danny was stuck at home finishing packing and moving our entire house without my help. Thanks to all who came out and helped out with that, we really needed it. Five nights later we were set to go home, our new home, and I had to learn how to administer IV antibiotics through his line. Can't say, I ever thought I would learn how to do that.
Today I received a call. THE call. We finally have a date. Our donor has picked their harvest date and we are set for Chemo on September 23rd. Its finally happening, and I'm not sure how I feel. I'm just ready to get this done and over with. Being in isolation just for those 5 days, gave me a taste of what we're in for, and I'm not excited. Either way, I am so happy that after everything is all said and done, Oliver will be disease free!
Thanks again for all your support. Without you, we would not have the strength to get through this. I will continue to update you as soon as information becomes available. Please continue to share this with your friends and extended family. It's because of you we've got this far.
Updated posted by Nichole Zimmardo 10 months ago
I am in utter awe with all of the support that I receiving. Words can not describe the utter gratitude I have for all of you. Thank you so much.

Oliver is getting closer and closer to transplant, which leaves us with mixed emotions; Excited, anxious, nervous, impatient, scared. They set him up for another liver biopsy next tuesday to make sure his liver is functioning well enough to survive the chemotherapy. After that, then they are going to decide whether they want to use bone marrow or cord blood. If they choose cord blood, Oliver could very well be admitted into transplant in 2 weeks. If they choose bone marrow, it could take up to another month. I know they will choose the best route for him, but I'm just so anxious to get this done and over with.

Please keep your thoughts and prayers coming the way.

Thank you,
Danny, Nikki, Luca & Oliver
Created by Nichole Zimmardo on July 29, 2013

Since the day he was born, our baby Oliver has been through more than most of us have in our entire lives. Without warning I was told that Oliver needed to come out early due to complications with little to no amniotic fluid. The doctors nor us had any idea what we were in store for. At 35 weeks, November 14, 2012 Oliver Douglas Stanek was born. He was at a healthy weight of 5 lbs 5 oz for his age. At first glance we thought nothing was wrong, he looked like a healthy little boy! Who knew that within the last 24 hours, things could take such a dramatic turn.

Oliver was born with renal and liver failure. His bilirubin levels were off the charts and it seemed like the doctors had given up hope. There is nothing worse than the thought of losing your child. It's something that no one dare think about, and yet we were living in it. Thursday to Sunday had to be the longest 4 days of my life. When Sunday came around, it was like a miracle was happening. Oliver started showing signs of progression. Our little baby was healing himself. Words can not explain the joy we felt that day. The doctors were baffled, still trying to figure out what was wrong with him, or why this even happened. We had a few potential diagnoses, but nothing that really made sense.

Finally, after 2 and half months spent in the NICU, he was finally well enough to go home and treated out patient. This was so exciting for us, knowing our little baby was finally going to come home with us! Oliver has been such a joy to be around. His demeanor is so calm and happy, you wouldn't even know he was sick. Since then Oliver has been suffering from frequent blood transfusions and multiple skin lesions. 

After 8 months of scratching our head, something had finally come into light. Oliver was diagnosed with Congenital Erythropoietic Porphyria (CEP); an extremely rare metabolic disorder affecting the production of heme. At first it was hard to believe because this disease is so rare, only 250 reported cases in history have been made. How could this be? CEP causes porphyrins to build up in your bone marrow, and the skin, causing shortening of life of red blood cells and extreme photosensitivity to sunlight and artificial light; a living vampire. In some cases it is known to effect the Liver and Kidneys as well. Things were starting to make sense, since he was severely burned on the whole left side of his body from the phototherapy to decrease his bilirubin. Which at the time, was another mystery. Not mention the fact that he suffered from multiple bone fractures due to vitamin D deficiency. 

Fortunately, due to recent studies, there is a cure for his symptoms through chemotherapy and bone marrow transplant (BMT). This means Oliver can live a normal happy life! This doesn't mean he disease free, it just means he wont be symptomatic. We are currently in the process of BMT and we are looking to be admitted into the hospital in the next month. (Hopefully)

Everyone's support as been overwhelmingly helpful. Without our friends and family, I'm not sure we could have done this. I'm not one to ask for help, but I have come to the realization that our family is in dire need of it. Oliver's medical bills are accumulating. Even with our health insurance we have close to $20,000 in medical bills already and plenty more to come. I don't even want to think of how much this next hospital stay is going to cost. Really, anything helps. Even if its only $5, we would appreciate anything. Please be a part of Oliver's recovery and we will be forever grateful. 

Thank you for taking the time to get to know Oliver, and his journey through his first year of life. Thank you again for your ongoing support, and God bless.

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

"Longitudinal Study for All Porphyrias"

"Longitudinal Study for All Porphyrias"
The 6 Porphyria Consortium sites:   
§  Dr. Robert Desnick, Mount Sinai School of Medicine, New York City, NY
§  Dr. Herbert Bonkovsky, Carolinas Medical Center, Charlotte, NC
§  Dr. Karl Anderson, University of Texas Medical Branch, Galveston, TX
§  Dr. Joseph Bloomer, University of Alabama, Birmingham, AL
§  Dr. John Phillips, University of Utah School of Medicine, Salt Lake City, UT
§  Dr. Montgomery Bissell, University of California, San Francisco, CA
are conducting a 5 year study on all of the porphyrias sponsored by a grant from the Rare Diseases Clinical Research Network (RDCRN) of the National Institutes of Health (NIH). 
§  PURPOSE:  To learn more about the course of the disease by understanding its                                  natural history, symptoms and medical treatment.
§  PARTICIPATION CRITERIA:  You must have a diagnosed case of porphyria.
o   1st Phase - Enrollment - This requires a site visit where your information -  history and labs - will be collected.  If travel to the site is not possible, please call the site coordinator to discuss your other options.       
o   2nd Phase - One time annual follow-up, preferably at the site each year for 4 years.
If you are interested and/or have any questions, please call Desiree Lyon Howe on her cell phone:  713.857.0995

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

Monday, June 16, 2014

Pick Your Brain Why do I feel this Way?


10 All Natural Ways to Stop Feeling Depressed

  • Life is a drag.
  • What’s the point of anything?
  • I’ll never be happy.
Do any of these gloomy thoughts sound familiar? It’s likely they do. The occasional case of the blues is perfectly normal, but that doesn’t make dealing with it any easier. If you allow them to, negative thoughts can fester and lead to serious depression. That’s why it’s important to take action early to bust yourself out of a slump.
While these suggestions won’t eliminate your problems, they can help you break a negative thought pattern and stop feeling depressed. If you think you might have a serious mental health problem, don’t hesitate to see a medical professional.
1. Understand the emotional cycle – Life is an emotional roller coaster. Some days you feel like nothing can stop you. Other days you feel utterly hopeless. Most of the time you’re somewhere in between. Understanding the pattern of positive and negative emotions will help you put your feelings in perspective. Next time you feel down, just remember that it’s a natural emotion that will inevitably pass. Knowing that a feeling of depression is only temporary makes it less dreadful.
2. Spend time with positive people – Nothing affects the way you think and feel more than the people you interact with. Thoughts (both positive and negative) are contagious. If you are surrounded by negative people, it’s only natural that you’ll start to think and feel the same way. To improve your outlook on life, spend time with positive people. Search them out and try to understand the way they see the world. Chances are their happiness will rub off.
3. Reflect on past success – In the wake of a colossal failure, it’s easy to forget everything you’ve ever done right. Take a few minutes to remember your past accomplishments and build yourself up. What made you successful before? What are your strengths? Frequently, this exercise will build self confidence, help you figure out what went wrong, and generate ideas for success in the future.
4. Focus on gratitude – It’s human nature to measure ourselves against those ahead of us on the social ladder. Studies have shown that people care more about being richer than their friends than actually making more money. When you consider everything good in your life and compare it to the problems of less fortunate people, the issue that’s making you depressed won’t seem as serious.
5. Change of scenery – One of the best ways to change the way you feel is to change your environment. When you get in a slump, you start to associate your problems with everything around you. It can get to the point where your environment is a constant reminder of your problems. This can be a dangerous cycle. The solution is to change things. Change doesn’t have to be radical. Cleaning up, adding more lights, or including pleasant decorations can completely change the mood of a room.
6. Break your routine - Going through the same routine, day after day, can be monotonous and depressing. It often leads to getting caught in a rut. To get out of it you need to temporarily change your routine. If you can, take a day off from work. Do something you don’t normally have time for or something you’ve never tried. In the long run, taking a day off every now and then to get out of slump will make you happier and more productive.
7. Interact with animals and nature – It’s funny when you consider how humans put so much importance on their own tiny problems. Animals don’t think this way. A little bird doesn’t mope around because it isn’t an eagle or because another bird beat it to a tasty seed. Animals live in the present moment and they show love unconditionally. Observing and interacting with them will help you get over your problems.
8. Get moving – As Johnny Cash famously suggested, “Get a rhythm, when you get the blues.” Moving to a beat makes everyone feel better. The same is true for movement in general. Hitting the gym or going for a walk will help you shed the lethargy that comes with feeling depressed. The more enthusiastic your moments, the better you will start to feel.......
"Remember....Research is the key to your cure!"

Friday, June 13, 2014

You shop. Amazon Gives. Your shopping supports the American Porphyria Foundation

  • Amazon will donate 0.5% of the price of your eligible AmazonSmile purchases to American Porphyria Foundation whenever you shop on AmazonSmile.
  • AmazonSmile is the same Amazon you know. Same products, same prices, same service.
  • Support your charitable organization by starting your shopping
Amazon will donate an extra $5 to the charity of your choice.

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

Your shopping will support American Porphyria Foundation

Thursday, June 12, 2014

Read more about the importance of testing for porphyria on our website:

Read more about the importance of testing for porphyria on our website
Let the APF know if you would like an educational packet to be sent to your doctor or/and you would like to receive a patient packet.
The porphyrias are readily diagnosed by laboratory testing, especially at or near the time of symptoms.

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

Tuesday, June 10, 2014

Are YOU Interested In Research On Rare Diseases? Event Day June 12 & 13

Hi all APF members family & friends.  If you have not signed up for the RDCRN~ contact registry or need assistance, I will be contacting you over the next two days this week Thursday and Friday- June 12 & 13 from the hours of 2-9pm Eastern time zone.
Please schedule a 10-15 minute phone call and have your date of diagnosis or approximate date with you. 
If you are unsure about what this registry is please feel free to look below and if you want to enroll yourself please feel free to do so at this link.  You can also email me your name & number to or call the APF office @ 866-APF-3635.  We really need volunteers as projects are currently running and future research projects start.  Will you show your support for research? 
Please reach out!  It’s a wonderful opportunity that you will not want to miss out on.

Are YOU Interested In Research On Rare Diseases?
Have study information sent right to your inbox!

Receive the most current information on:
·         :: open recruitment for clinical studies of your disease
·         :: opening of new clinical sites doing research on rare diseases
·         :: activities from affiliated awareness and advocacy groups
...and future opportunities to participate in research!
YOU can help in the fight against rare diseases

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

What is δ-Aminolevulinic Acid Dehydratase Porphyria (ADP)?

What is δ-Aminolevulinic Acid Dehydratase Porphyria (ADP)? ADP is more severe than the other acute porphyrias and can present in childhoo...