After learning about EB and how it affected those who face it each day, Kaelin felt a very strong call to action.  She wanted to help educate others in her community about EB and the organizations who support families and research.  As a member of the Elementary Honor Society, she had a opportunity to present to the Student Council, an opportunity to teach her peers about EB and hopefully inspire then as she has been inspired.

She has achieved this and more.   Kaelin has sparked passion in her classmates to become part of something bigger then themselves.  There are now several fundraising efforts within groups at her school and students are out educating others.   Her presentation powerful and she now has the opportunity to present to the National Elementary Honor Society, which will hopefully open more doors for her and provide her with more opportunities to help others and make the world a better place.

I am so incredibly proud of Kaelin and her passion.  She is making such an impact in her community and in the EB community as well!  She is teaching those around her some of the most valuable lesson in life.  She will do great things in her life, I have doubt.

Here is her presentation to the council…

Why I Refuse

Good Morning!  Since we are coming to the end of the Student Council run, I wanted to talk to you about a great organization called I Refuse.  We all know about places who help raise money for kids with cancer and other well known diseases, but I wanted to tell you today about a rare disease that not a lot of people know about.   I Refuse was started by Christie Zink in Minnesota.  She is a photographer who started to take pictures of small children that were born with a disease called Epidermolysis Bullosa, or EB, which is easier to say!  This is a rare disease that causes a lot of pain and is eventually fatal.

EB means that the protein that holds the layers of your skin together are missing when you are born.  This disease is genetic, so you are born with it, you don’t get it later in life.  So, say someone grabs your hand or you brush up against a desk or wall.  Normally nothing will happen to your skin or maybe you might get a bruise.  If you have EB, you skin would tear or blister and it wouldn’t heal for a long time, if at all.  You would be at risk for bad infections.  Your skin would have to be constantly covered in bandages.  You wouldn’t get to play like a normal kid.  EB causes other problems too.  Blindness and cancer are common in EB kids.  It is really sad.  EB kids are often called “Butterfly Kids” because their skin is as fragile as a butterfly wing.  The slightest touch can cause a lot of damage.

The good news is that there are doctors who are finding new ways to help kids with EB.  This is where the I Refuse Campaign helps out.  In Minnesota, Dr. Jakub Tolar is researching and testing new ways to use bone marrow transplants and stem cells to help out kids with cancer and EB.  He never quits trying to find a way to cure EB.  He relies on the donations he gets for research.  P.U.C.K (Pioneering Unique Cures for Kids) and I Refuse donate a large amount each year to help find a cure for EB.

Please look at my board here.  These little kids are a small example of the kids who have fought hard against EB or who are still fighting EB every day.  Look how small they are. I wanted to bring this to your attention because we need to let people know about this disease and how bad it is.  We are the future doctors and scientists and we need to find a cure.  We can make a difference in the lives of all EB families and it will also make a difference in each one of us.

Since the end of the year is coming up, I hope we can spread awareness about EB and maybe find a way to support the I Refuse campaign to help these kids.  They deserve a chance to do what we do every day, play and run and hang out without being afraid they are going to get hurt or even living long enough to do these things everyday.

Thank you for listening!

So Kaelin, kudos to you, I cannot wait to meet you!!  Keep up the amazing work you do, you are going places!!

Kaelin and her family will be taking their family trip to Minnesota in June to participate in Time to Fly.  You can help Kaelin in her fundraising efforts by clicking HERE

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In the U.S., any disease affecting fewer than 200,000 people is considered rare. This definition comes from the Orphan Drug Act of 1983 and is slightly different from the definition used in Europe. There are nearly 7,000 rare diseases affecting nearly 30 million Americans. In other words, almost one in ten Americans are suffering from rare diseases.

Besides dealing with their specific medical problems, people with rare diseases struggle to get a proper diagnosis, find information, and get treatment. The rarity of their conditions makes medical research more difficult.

(From RareDiseaseDay.US, please visit there site for more information: RareDiseaseDay.US) 

Epidermolysis Bullosa is only one of the many disorders affecting the nearly 30 million people suffering from a “rare” condition.  Another one of those very rare conditions is Harlequin Ichthyosis.  According to the Foundation for Ichthyosis and Related Skin Types,

Ichthyosis is a family of genetic skin disorders characterized by dry, scaling skin that may be thickened or very thin. The prefix “ichthy” is taken from the Greek root for the word fish. Each year, more than 16,000 babies are born with some form of ichthyosis.  Harlequin ichthyosis is an extremely rare form of ichthyosis and is the most severe. 

Newborn children affected with Harlequin ichthyosis are covered with plates of thick skin that crack and split apart.  The thick skin plates can pull at and distort the infant’s facial features.  The tightness of the skin pulls around the eyes and mouth, forcing the eyelids and lips to turn inside out, revealing the red inner linings.  The chest and abdomen of the infant may be severely restricted by the tightness of the skin, making eating and breathing difficult.  The hands and feet may be small, swollen, and partially flexed.  The ears may appear to be misshapen or missing, but are really fused to the head by the thick skin.  Harlequin infants need to be cared for in the neonatal intensive care unit immediately.  (You can find out more by visiting their site: www.firstskinfoundation.org)

Through the wonders of social media, I have come to know a sweet little girl named Brenna.  Her mom Courtney says:

“When our daughter Brenna was born and diagnosed with Harlequin Ichthyosis, I was unaware of all of the health risks that having a skin condition posed. I simply thought she would look different. I very soon discovered how severe and life-altering this disease is.
Harlequin affects our family every day – from the daily baths that require extra time in the tub to soak and exfoliate excess skin, to applying Aquaphor up to 6 times a day covering Brenna’s entire body, to nutritional concerns (making sure she’s getting enough calories and gaining weight) to minimizing infection risk through hand-washing and liberally using a bleach solution when cleaning.
I began my blog three days after Brenna was born to both update family and friends about her condition and to share about Harlequin and all that it entails. But that soon led to advocating, not only medically for Brenna, but for all who are different. Sharing our story has not been without criticism and judgment…but it is worth it every time our family is out in public and we get stopped by strangers exclaiming over meeting Brenna – sometimes with tears in their eyes – instead of the alternative: pointing and staring and whispering about her unique physical appearance.
Society tells us every day that Brenna is not perfect or beautiful. But for those who know her, she is changing the perspective of beauty with all that she has accomplished with strength and determination. We feel blessed beyond measure for all that she has opened our eyes to and for the love she has brought to our lives.”

Brenna’s journey is one that will inspire and move you, you will fall in love with her, there is no doubt.  Take some time today to read more about this very special little girl who is such a blessing to those who have come to know her story. You can find out more at Courtney’s Blog Blessed by Brenna or by visiting Brenna’s Facebook Page 

Please help raise awareness and support Rare Disease Day, by sharing this blog to help educate others.  And as always please support research to find cures for these disorders.  You can find out more about Harlequin Ichthyosis or the other 28 types of Ichthyosis by visiting 

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Thank you to everyone who participated in our Rare Disease Day Giveaway on Facebook.  Due to the overwhelming response, several other prizes have been added.  You can view the winners by clicking the image below.  If your name is listed, please email irefuseeb@gmail.com with your shipping information within 48 hours, prizes not claimed by Monday at 9:30 pm CST will be re drawn.  THANK YOU!!

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© Barbara Ann Rogers

Interesting how we get what we need just when we need it, little signs that come just at the right time.  I had been thinking long and hard about writing a post to honor Tripp Roth today.  The words were not coming to me as easily as I had hoped and I was totally unprepared how emotional I would be trying to write about him today.  I thought I would search for a quote to help me get started and so I did a quick Google search, hit enter and went to get my coffee.  This is what was waiting for me when I got back to my desk.  As I read, the tears came to my eyes, for I knew that he was speaking to me and guiding me as he did so many times during his life.  It was exactly what I needed and exactly the right time.

Many of us search our whole lives, seeking our purpose, and I was blessed to have found it in the incredible life of a little boy.  It was again what I needed right at the right moment, a simple mouse click on a link and I was forever changed.  It was a gift that humbles me each and everyday.  I know that I am a better person today because of him and everything I do is because he came into my life and changed it.  He gave me the purpose I had so long been seeking.

I am only one of many who has been impacted in some way by Tripp’s life.  Through his suffering, he taught many about courage and faith.  Despite the challenges of life with Epidermolysis Bullosa, he taught all about love and gave people hope.  He has left a tremendous imprint on the hearts of many, and even in his absence, he is changing lives through his story.

A year ago today, the news of Tripp’s passing shattered many of us.  The loss of this beautiful spirit rocked the EB community and the entire group of supporters who had been following his journey and praying for him.  I am one of many who never wanted him to leave and now he was gone…or is he?

I don’t think so, I think that he lives on in all of the work that we do each and every day fighting for those with EB.  I think that he continuously graces us with his spirit, inspiring us to continue to advocate and fight…to be a voice to all of those who suffer.

Today more people know about Epidermolysis Bullosa than ever before. There are advocates across the country who are raising awareness, people who are dedicated to finding a cure and end the needless suffering.  This is not a coincidence, it is the spirit of one very special butterfly guiding us on a path of compassion and love; helping us to be better people.

Today my heart is with Courtney.  So many of us have been inspired by her unconditional love, her unwavering strength and commitment to her son.  Courtney,  thank you for sharing Tripp with the world, for trusting us to love him too.  Thank you for facing criticism and negativity so that we could experience the many blessings and the joy he brought.  Opening yourself up to us all so that we could share this journey with you.  I love you today and always my sweet friend.  Please know that Tripp is our hearts always; his spirit still shines.

In parting, God said, “Do not forget little soul that I will be with you always. Although you have agreed to bear the pain, you will do so through my strength. And if the time should come when you feel that you have suffered enough, just say the word, think the thought, and you will be healed.” Thus at that moment the brave little soul was born into the world, and through his suffering and God’s strength, he unlocked the goodness and love in people’s hearts. For so many people dropped their differences and came together to show their love. Priorities became properly aligned. People gave from their hearts. Those that were always too busy found time. Many began new spiritual journeys, some regained lost faith – many came back to God. Parents hugged their children tighter. Friends and family grew closer. Old friends got together and new friendships were made. Distant family reunited, and every family spent more time together. Everyone prayed. Peace and love reigned. Lives changed forever. It was good. The world was a better place. The miracle had happened. God was pleased. – an excerpt from The Brave Little Soul by John Alessi

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Many people on this journey have been touched some how by the life of  Tripp Roth, for many he is the reason that Epidermolysis Bullosa is part of their lives.  This little boy had an amazing ability to change lives in so many profound ways, which is why so many of us were so shaken when he died on January 14, 2012.  

His life gave me and many others a purpose much bigger than we knew possible and he has become the motivation for many of us to continue to raise awareness and fight for a cure.  For me personally, he is why I am here today, he sparked my passion and opened my heart to an entire new world and gave me the inspiration I had been longing for to make a difference.

Unfortunately Tripp would only be the first of many who would be taken from us too soon.  In 2012 we also said good bye to a sweet little boy named Seth who was in the process of being adopted by Charlie Knuth’s parents.  After an extended visit from him mom Trisha, Seth became very ill and unfortunately his body just could not fight anymore.  Seth died on February 22nd finally feeling a mother’s love; knowing that he had a family.  

On March 24th, the community said goodbye to sweet little Chloe.  Chloe fought very hard, but was never able to leave the hospital.  Although her stay was far too brief, she touched so many hearts.  She sparked an awareness campaign lead by Mollie Walker of Louisiana.  Mollie sold shirts designed for Chloe and donated the proceeds to EB Research.

As we approached the Easter season, many in the community we again shaken by the loss of Quinn Seymour on April 7th at Amplatz Children’s Hospital.  Quinn was recovering from a bone marrow transplant, but unfortunately developed MRSA Pneumonia and she did not have the immune system to fight it.  She died peacefully in the arms of her parents.  It is because of Tripp that I had the opportunity to know and love Quinn and her family.  I connected with Quinn in a very special way and she is missed so deeply.

In all approximately 37 have been lost this year to EB in the United States.  This is a number that is unacceptable, a number that inspires us to do more and to come together to honor those who have died and those who continue to suffer…to fight EB!   In May I Refuse was launched as a small fundraiser to honor Bella Ringgold’s birthday.  This campaign has reached so many people and it continues to be a successful way to raise awareness and support research.  Due to it’s success, this was created to share awareness and advocacy stories as well as information and ways to become involved.  There were multiple I Refuse fundraisers across the country.  I am very excited to continue development of this campaign in 2013 with a different look and some other fun additions to help get people involved, allow you to bring awareness into your communities and support research for a cure!

In June, many came together to support Pioneering Unique Cures for Kids in the annual Time to Fly walk/run.  Thanks to the support of so many, I was able to personally raise over $11,000 (which was over all the most money brought in by an individual) and as a team, we raised over $25,000!  It was hot, but to see kids like Layla and Jackson braving the heat, we were motivated to get out there and run! I remember the entire time I was running, why I was doing this and why I had to keep going.

In August, I had the opportunity to host several amazing advocates who traveled to Minnesota to visit the hospital and the Ronald McDonald House to see Jax.  All of us had worked together on the the SaveJax campaign earlier in the year that was successful in getting lawmakers involved in getting a medicaid approval that would allow Jax to have his bone marrow transplant.  During our time, we also had the opportunity to sit down with Dr. Jakub Tolar to discuss the current research and ways that we would be able to help him work for these families in finding a cure for EB.  This conversation had tremendous impact on all of us.  You can read SooAnn’s inspiring post HERE.

As summer came to an end, we began thinking about EB awareness week and Aubrey’s 5k that is coordinated by my friend and fellow advocate Andrea Ness.  Aubrey was born October 6, 2010 with Junctional EB.  Upon looking at her, she was nearly perfect.  However, EB was ravaging her insides.  After a short six weeks, Aubrey died surrounded by family on November 17, 2010.  Andrea was deeply affected by Aubrey’s life and has made it her goal to do what she can in her honor.  The race was not only incredibly emotional, they raised over $23,000 for EB research and brought so much EB awareness to Michigan!  It was definitely an amazing way to kick off EB Awareness week!

The last week of October was incredible as I watched my news feed and twitter explode with posts and articles all aiming to raise awareness for EB.  I spent part of the week at the University of Minnesota reaching out to students and staff about what EB is and the groundbreaking research that is being done at the U of M in hopes of finding a cure.  We talked to so many people and handed out over 2000 awareness cards in just a few days!

There was an explosion of awareness online and so many advocacy and awareness pages have popped up to garner attention to EB, advocate for families and support the community as a whole.  Pages like Support Baby Easton have used their following to help share other stories and support the other families who are affected.  The EB community is an amazing family to be a part of.

In December, my friend and EB mom Jen Nick, had the opportunity to host the 2012 Wings of Hope fundraising brunch to benefit Pioneering Unique Cures for Kids.  Guests had the opportunity to listen to our amazing speakers, Marc Seymour, Trisha Knuth and Dr. Jakub Tolar.   It was also a special treat to have a special guest in attendance.  Eleafar “Eduardo” Romero who is currently recovering from his bone marrow transplant was able to attend and spend this inspiring morning with us.  Wings of Hope raised over $20,000 for Dr. Tolar’s research team.  And although the final numbers for the year are not in, I can say with a degree of certainty that thanks to an amazing matching grant from The Jackson Gabriel Silver Foundation and The Epidermolysis Bullosa Medical Research Foundation approximately $900,000 has been raised for Dr. Tolar and his team.  So incredibly exciting!

It is truly awe inspiring to see how far we have come in just one year, the impact that has been made and the tremendous amount of awareness that has been raised across the globe.  I think that we can safely say that 2012 was pretty amazing, but it is my hope that we can make 2013 even better.  Are you in?

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In our lives we will encounter opportunities to do something great, to be a part of something bigger than ourselves.  We can choose to ignore those opportunities, or we can embrace them and seek to be better people.  I have been blessed with several such opportunities and I have chosen to play “full on”and to use each of these occasions to learn, to grow, to be inspired.  This year’s Wings of Hope (benefiting Pioneering Unique Cures for Kids) was no exception.  It was such a privilege to be able to co-host this with my lovely friend Jen Nick.  (Jen has a beautiful daughter Layla with EB Simplex Dowling Meara who you will learn about in a later post. )  Jen is one of those people who have come into my life and has inspired me as a mother and as an advocate.  I admire her on many levels and after this event, by admiration and love for her is much deeper.

We knew that we wanted Wings of Hope to be inspirational, but I am not sure that either one of us were truly prepared to hear the stories we heard that day.  Although I knew a lot about Quinn’s journey, hearing Marc’s words gave every one in the room perspective, including me.  As he spoke through his tears, he shared some of the emotional and intimate thoughts about his struggles and Quinn’s suffering.   This was a side of Marc I had only gotten a glimpse of one other time…the day of Quinn’s funeral.   Marc has always inspired me with his strength, his faith and his honesty.  I will always be grateful that he and Mandy trusted me to join them on their journey and his words still move me to tears as I remember their beautiful daughter and I am reminded of her fight…

“Quinn Rosalie Seymour was born August 9, 2011.  At birth she was nearly perfect.  Her thumb and first two fingers were blistered and bloody under the nails, but nothing that

seemed significant in the adrenaline rush that was her unexpected home birth!  Yes, it was fast, and yes it is great living close to a fire station!

We were nothing but giddy as we welcomed our beautiful baby girl into the world.  Mandy and I laid in the hospital starring at each other in disbelief – how did we get here?  Did we really just have a baby girl on the bathroom floor?

The fun, the wonder and joy vanished a short time later.  It was the first time that we realized we should be concerned.  The nurse that was charged with washing her after we got to the hospital had brought Quinn into the room and was apologizing to us.  She said she had never seen it happen like this before, but she had peeled to small patches of skin off Quinn’s bottom when she dried her.  I know now that these were her first blisters.

On day 9 we were referred to a third dermatologist – because the first two had never treated EB and had seen nothing like this on a child. Luckily, he knew EB, he knew enough to give us a verbal diagnosis of EB just by sight.  He told us that day he believed Quinn had the worst form of EB. Her skin biopsies later proved him right, Quinn had Junctional Epidermolysis Bullosa – Herlitz. This is the type you hear about where the children rarely live to see their first birthdays.   EB is called a skin blistering disorder – but i hate that, because it is so woefully inadequate. Children with JEB-Herlitz have awful skin, but they also have internal involvement. Anything with a mucous membrane from the nose to the rear end is invovled.

He did have one piece of good news for us that day….he told us about a ground breaking program that was hard at work trying to cure EB in Minnesota.  He knew a lot about dr tolars research and he encouraged me to learn all I could about the treatment since it might be an option for Quinn.

When Quinn was 5 weeks old I was fortunate to have made contact with Dr. Tolar and gotten a consultation appointment.  I flew to Minnesota to meet him and a few members of his team.  I knew I was coming to learn about this clinical trial that was using stem cells from bone marrow to help the children that suffer with the most severe forms of EB.  In truth, I was there for something else.  I was in Minnesota to decide if I could trust Dr. Tolar with Quinn’s care.  For those of you who don’t Dr. Tolar yet….you will soon learn that it was an easy decision.

I should tell you a bit more about my conversation with Dr. Tolar that day.  He educated me even more about EB and how dangerous this treatment option really is.  Also, he spoke with such compassion for the reality we faced – that time was not on our side.  Every day that Quinn lived without treatment was a day closer to her not being healthy enough for treatment.  She was one day closer to dying from a complication we couldn’t see. He even shared the saddest news I had ever heard – there are still places in Our world that euthanize children with Junctional Epidermolysis Bullosa – Herlitz….the condition Quinn was battling.

For us the choice was clear. We were going to do whatever it takes to give Quinn a chance at life. We saw this treatment as the one HOPE in the world for her.

This treatment offered Quinn a chance at a real life. Without this treatment all we could do is bandage her up to the best of our ability and watch her get sick and die. Dr Tolar  offered HOPE!  Hope for a cure, hope for a life without pain and agony, hope for a life without bandages.  Hope for Quinn to live!

Quinn received her transplant on December 9, 2011, she was 4 months old.  She was by far the youngest to receive a transplant for EB at this point.  She was the 19th to be transplanted in Minnesota and only the third with JEB – Herlitz.  We knew we were doing the right thing for her – that we were fighting with every bit of our beings to save her life.

Post transplant is very challenging.  Quinn had little to no immune system.  She was on countless medications and we were doing everything we could to help her system recover.  She improved very quickly at first.  She improved so much that we were able to leave the hospital with her on Christmas Day(just two short weeks post transplant)…it was the only time Quinn left the hospital with us in Minnesota.

Early in 2012 Quinn was very, very sick. To say the outlook looked bleak is the severest of under statements. It was a dark time for us. During that dark time we did the first post transplant biopsies and boy were we injected with HOPE again.  The transplant was working.  Her biopsies showed signs of improvement – her skin was showing signs that it was manufacturing the missing protein.

On April 7, 2012 Quinn was given her angel wings.  Her battle with EB here on earth was over.  It was discovered that in addition to the daily dialysis she had been on to try and prevent renal failure, she was also fighting two unknown forms of pneumonia.  In 2012 she suffered through 5 different types of pneumonia – all complications because of her weakened immune system.  The transplant was working…her skin was starting to improve, but her body just couldn’t defend itself and heal itself all at once.

It is true that Dr. Tolar is an amazing physician.  That he is truly an amazing man.  Those things brought us to Minnesota.  Those things will keep us supporting him and the important research he is doing.  I do want all of you to understand some other very important things about this research.  To implement this research with children takes many, many caring and dedicated people – not just Dr. Tolar.  It takes a hospital committed to educating all staff on a disorder they won’t see very often.  It takes those staff being committed to doing the best they can to care for the patient and the parents.  This is truly the ugly part of EB.  The part where parents touch their children and hardly anyone else does.  The part where nurses are asked to assist a parent through bandage changes that can last up to 4 or 5 hours long.  Yes, these bandage changes are brutal for the child, the parent and the nurses who help.  Many nurses had to be excused for periods of time because of how rough Quinn’s skin looked and the heat lamp her father insisted upon using to make her a little more comfortable.   It takes a hospital that is willing to commit to letting a parent be in the operating room to remove bandages and then given time in the operating room to re-do those same bandages.  It takes a hospital and physicians committed to allowing parents to have a SAY, and actually listen when they do have a say.  These are all essential pieces that The University of Minnesota, Amplatz Children’s Hospital has.  If you don’t believe how committed their staff is…just look at the two tables by me to see several of the amazing nurses that cared for Quinn, and please make sure you thank them for how hard they work – because I sure can’t thank them enough on my own.

Quinn’s fight here on earth is over.  But the fight to cure EB is not.  There are too many children and adults that suffer with this painful disorder every minute of every day.  There are too many parents that get starred at and scolded by strangers because it is assumed this parent BURNED there child.  The truth is these parents spend more time, effort and energy providing delicate cares to their children than any of us can imagine.  These parents watch as their children suffer through terrible pain and anguish just to take a bath.  EB is a horrendous disorder.  It is often called the “worst disease you never heard of.”  Well, since you are here today, you have heard all about EB…now, I have one last question for all you to consider – what are you willing to do to provide a little hope to one of these beautiful children?”

When Dr. Tolar got up to speak, he captivated the entire room with his passion.  His dedication and appreciation were so evident.  He spoke of the tragedy that is EB…that there is nothing like it.  The suffering that it causes and the lives that it takes.  He spoke about his gratitude…gratitude to have the opportunity to help, to provide hope.  I am not sure if Dr. Tolar will ever truly know the depth of his impact,how extraordinary he truly is.  He is incredibly humble,  he is doing what he believes is the right thing to do…helping people.

Trisha Knuth has always been so incredibly strong, she never really had a choice.  She has had to fight for Charlie since day one, every step of the way she has faced challenge after challenge head on.  She has stuck by Charlie through everything, never giving up and never giving in.  Trisha is the epitome of “Tiger Mom”, and seriously anyone is a fool to try to take her on, they have no idea what they are dealing with.  As a parent I admire her on so many levels…her tenacity, her verve, her unyielding love for her son.  Trish gave us a pretty phenomenal gift on Saturday a very poignant and vivid look into the harsh reality of EB.  The reality of how it not only affects those who are afflicted, but their families.  How EB takes its toll, physically and mentally on every one…

“When Charlie was born in a small town in rural Wisconsin he began to blister immediately after his birth.  The skin slid off his body when nurses and doctors began the normal routine of a caring for a newly born infant.  He was transferred to a pediatric hospital in Wisconsin shortly after, but no one from his family came for him. Not his mother, father, Grandmother, Aunt, no one……..  He lay alone in the Intensive Care Unit.  Born into this world, only to be left in a hospital, in excruciating pain, with no one to comfort him. My husband and I received the phone call from Social Services asking us if we would foster a baby born with a very rare skin disease.  At first, we were told he had the most severe form called Junctional Epidermolysis Bullosa, and that he would die in the first year of his life.  We prepared ourselves to give this baby the most comfort, love, and security we could until the day came he would die.  I brought Charlie home a week later with a large supply of morphine, Vaseline, and gauze.

You can imagine my shock, surprise, and confusion when I was told at his first dermatology appointment a month later that Charlie did not have Junctional EB at all, we were told this in error.  He actually had Recessive Dystrophic EB.  He was missing collogen 7, the protein that binds his skin together.  He would probably not die in the first year of his life, but worse,  he could live this torture for years only to become completely disabled, and die from infection or an aggressive form of skin cancer. The doctors explained that there was no treatment for EB, only wound care.  Maybe, in Charlie’s lifetime a cure would be found.

This is the first time the thought of adoption crossed my mind.  To imagine a child with such a painful, complicated, debilitating illness bouncing around the foster care system was inhumane.  We loved and protected Charlie just as we would our biological children.  Despite the opinions of others who feared for our emotional well-being, Charlie became legally a Knuth one year later.

When Charlie came home with me from the hospital at just two weeks old, I never could have possibly imagined the torture and abuse EB would inflict on my child.  I am glad I didn’t, because I just don’t know if I would have been strong enough to take on this unbelievable challenge.

As an infant, it was visually apparent that Charlie was in enormous pain.  Even though I was able to keep the skin on the outside of his body protected, the skin on his tongue was completely absent.  Lydocaine coated his mouth prior to any sort of eating, or the pain of sucking a bottle would make eating impossible.  Charlie would choke on the skin that slid from the roof of his mouth and become lodged in his throat.  The blisters that covered his esophagus would rupture and leave raw open wounds.  At night as I lay in bed awake, the sound of blood gurgling with every breath he made would play over the baby monitor.  We kept the curtains closed and stayed indoors most days.  The light of the sun or the  gentlest breeze would blister  his eyeballs and render him blinded for days.  Sound agonizing?? When Charlie turned six months old, the challenge of caring for him became 1000 times harder.  You see, Charlie figured out that if something on his body itched, he could rub it.  It started with the sides of his torso.  He would slide his little arms back and forth tearing the skin from both his sides of his body.  Just as one side of him would heal, he would destroy the other side.  Then, it was his ears.  Even though his fingernails literally popped off his fingers as in infant, any sort of rub at all would take his skin off.  The constant rubbing of his ears created constant wounds, infection, and blisters that spread from his head to his toes.  Where ever we went, the eyes of others were upon us.  Often, I was glared at and scolded by others who had assumed that he was burned or somehow mistreated.

The emotional torment EB caused Charlie and our entire family is very difficult for me to talk about, but this side of EB is by far, the most agonizing.  When Charlie was just a toddler, I would beg and plead with him not to itch.  This itch was so deep that it could never be relieved.  This itch began to run our lives.  The need to observe every movement Charlie made became necessary to protect him from himself.  Charlie became aware of this very early.  If he wanted any sort of attention at all, all he had to do was raise his hands near his ears and he knew that we would come running.  After hours and hours of painful dressing changes, Charlie often would silently itch his face and ears while napping.  His sheets, and new clean bandages would become covered in blood,   all of the torture that just ended would have to be redone.  The constant stress of avoiding more of Charlie’s own self- damage made it difficult for me to breathe.  Charlie would scratch when he was tired, when he was happy, when he was anxious, and when he wanted something.  If he didn’t want to go to bed at night, all he had to do was itch.  The painful consequences of his own self damage didn’t matter.  Having actual control over something in his life when nothing else at all was controllable was far more important to him.

He now had no skin on his forehead, his ears, his chest, neck, under his armpits, his groin, or his torso.  In fact, he was missing skin in about 90 percent of his body.  His own little fingers would spread infection from his head to his toes.

Baths became torture.  The only option we had to avoid systematic infection was baths spiked with bleach or vinegar.  High doses of narcotics did nothing but cause more itching.  The intensity of his pain during baths caused him to ravage his own body.  Out of desperation to protect Charlie, I was forced to create restraints.  Small boards with padding were placed in the bend of his arms and kept in place with rolled gauze.  These restraints could not be removed during baths and dressing changes until his body was completely re-dressed and protected.  This took many hours each day and often to my complete devastation, he would re-injure and rip of all of the dressings that were just reapplied.  The torture routine began to create behaviors similar to someone with post-traumatic stress disorder.  Most tasks done with Charlie had to be done in a “certain order.”  Left foot, then right, up the stairs.  Each time our feet landing on the step at the same time.  Any misstep at all would start the process over again.  If dressings were placed out of order, Charlie would beg to have them removed so we could “start over again.”  Hours and hours each day were spent just bargaining, bribing, pleading and begging Charlie to let us care for him.  The sadness, helplessness, and constant anxiety consumed my life.

As a mother, the daily task of restraining and torturing Charlie just to protect him and keep him alive, and neglecting the rest of my family was profound.  I was a safe “outlet” for Charlie’s anger and frustration as well.  Every bath was filled with violent threats by a four year old child.  Dealing with his agony the only way he knew how.  Day after day during dressing changes he screamed that he wanted me to die and that he was going to kill me, only to cling to me afterwards for comfort.  “I’m sorry Momma, I don’t mean it.”  I know Charlie, it’s OK….”You understand right Momma?” …..”of course I do.” I used to think that if we could just control the itch, then life would be so much easier…..If only Charlie didn’t tear the skin off his face.  Then I could handle it.  I could handle totally wrapping his body, but I just want to feel his face against mine.  I want to kiss his cheeks and stroke his hair…

Charlie’s first transplant was December 30, 2010.   The dressings that covered his entire body from head to toe are gone.  The hours and hours spent peeling, preparing, cutting, and organizing dressings on a daily basis is gone as well.  Baths and dressing changes that used to take an entire day have been cut down to one hour.   Even though Charlie’s skin still blisters, it has gotten much stronger.  No longer will skin slide off his entire hand like a glove creating a perfect mold made of flesh.  He has not required any narcotic mediation for baths since his first transplant.  Now that his body can absorb nutrition, he has gained ten pounds and has grown many inches taller.  The pale and translucent appearance of his skin has been transformed to healthy pink skin.

Dr, Tolar

This is for you……

Your research and passion to give my son and others like him a life worth living has trickled down and has changed the lives of my entire family…You know the science, the research, the physical difference this treatment makes.  You see it first-hand.  What you don’t see, is how it changes a families entire dynamic.  My daughter Chloe can now play with Charlie without fear.  Fear that she is going to accidentally hurt him and cause skin to slide off his body.  Fear that her mother is going to yell at her for once again causing Charlie more damage and now her mother has to do more wound care when she just got finished, and there is dinner to be made, and laundry to do, and messes everywhere that need to be picked up and on and on  and on…and when Daddy gets home, he will have to help Mom because she just “can’t do it all by herself.”   And older brothers Alex and Hunter don’t have to “take care of Chloe” while I do wound care all day.  They actually can have a life, play X Box with their Dad, go hunting with Grandpa, have a part time job, and hang with friends.  Now, they can continue the weekly tradition of watching, “The Walking Dead” with their Mom every Sunday night.

Kevin can come home from a work without the stress of the day being immediately thrown at his face the second he walks through the door.  He no longer has the mental anguish of helplessly watching his little boy suffer agonizing pain.  He doesn’t feel as though he is useless around his wife because he cannot “fix” the relentless stress that consumes every minute of the day.

Charlie doesn’t damage is own body anymore…The violent outburst and threats directed at the people who protect him, love him, and fight for him disappeared on December 30, 2010.  The day he had his first transplant.  Charlie wrestles with his dad and his brothers.  Plays with other kids and lives each day without anxiety.  For the first time last summer Charlie went swimming and ran through the sprinkler.  The water that once tortured him…… now is a pure delight.  Charlie plays in the bathtub….

Your research and treatment for EB has made me a better mother.  The overwhelming guilt of neglecting my healthy children no longer tortures my soul.  I now have time.  Time to tell them how much I love them and how incredibly important they are in my life.  Time to paint my daughter’s fingernails and do her hair, time to watch my sons grown into handsome young men.  Time to get on the floor and play Legos with Charlie.  Time to hold Charlie in my arms and actually feel his skin against mine.  Feel my hands on his bare back, and his face nuzzled in my neck.  You cannot under estimate the importance of actually “feeling” the skin of your child for the first time.  This is quality of life.  This is what you have created…”

I want to personally thank Dr. Tolar for taking the time to join us and speak.  To Marc Seymour and Trisha Knuth, thank you so much for being such an important part of making Wings of Hope a success, for sharing your stories and for inspiring others to become involved, to make a difference.  I will always feel incredibly blessed to know you, to love you and to have been touched by you and your children.  The impact that your presence had is immeasurable.  Not only did you move an entire room with your emotion, your stories, your children inspired tremendous generosity and help us raise approximately $20,000 for the research team at the University of Minnesota and to further the studies and trials being conducted at Amplatz Children’s Hospital.

Together we can make a difference and we can continue to fight for a cure to end EB.

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As we prepare for Thanksgiving, I wanted to write a quick post to thank everyone for their overwhelming support of this awareness campaign.  I never imagined that a little idea and a little passion would ignite a similar passion into others.  The EB Community depends on you to help educate and raise awareness and you are doing  just that!  Thank you for making a commitment and being a voice, you are making a difference.

I also feel that I need to thank the community who drives all of this, my inspiration  However  I am not sure that I will ever be able to adequately express the gratitude I feel as an advocate, thank you just does not seem sufficient.  I will keep it short and sweet…

I became actively involved in Epidermolysis Bullosa awareness and advocacy a little over a year ago, unaware of the opportunities and blessings it would bring.  When I began this journey, it was to help a little boy  This journey has brought so many wonderful people into my life, blessing me in so many ways.  I think about how each encounter impacts me, how each person teaches me…my eyes are constantly opened to new understanding.  Above it all though, is love.  Each of you has brought a special love to my life and it is a priceless gift.  Thank you not only for the love you have given me, but teaching me the power love has.

I find myself at a loss for words, but I do want you to know that my life is better because of you…whether you suffer from EB, are a parent/caregiver or an advocate.  You bring more to my life than I will ever be able to convey in a blog post, so here is my thank you to you…

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Hope, there is always hope.  It is something that I firmly believe…and hope, the difference does start with you…

In the past I have been asked about what lead me to Pioneering Unique Cures for Kids and the work being done at the University of Minnesota.  The answer is actually quite simple.   When I first learned about EB, after coming across “EBing a Mommy” (and reading the entire thing) I began researching.  When I read that there was no hope, I started search for anything, trying to find hope…something, anything really. I would stay up late at night reading anything and everything I could. I needed to know that it was not all heartbreak and tragedy. That is exactly what I got when I found Bella’s blog. When I started reading it, Bella was already gone, but there was something about her story that gave me this sense that there was hope. Hope because there was in fact this incredible team of doctors at Amplatz Children’s Hospital working so hard to give these kids  a better life.   For the first time, I was actually excited to live in Minnesota,!  I knew that there was a door opening and I also knew that this was an opportunity to make a difference…there was no way I could walk away from that!  From that moment on I have just allowed my heart to lead me, and the compassion and love for these children (and adults too) drive me.

Often we think that we have to do extraordinary things to make an impact, but really some of the simplest of things can make such a difference to those who are faced with the many challenges of EB.  Remember there are many different ways to advocate and everyone’s path is different.  The definition of advocate is simply this: a person who publicly supports or recommends a particular cause or policy.  Many of you advocate daily through social media and in your communities.  You make a difference in all of the things that you do and it shows.

Melinda Warner was featured in The Bryan Times (Ohio)

Last week I saw more posts on Facebook and Twitter than I ever have.   Not to mention the number or local news articles that have been posted.  People all over were sharing stories and information on their blogs and on their pages.  Not only were there a lot of things going on in the media, but there were awareness events being held all over the country, like this amazing group in Nevada who raised almost $1100 during awareness week.

(You can read about their fundraiser here http://tropicalsmoothiecafemak.wordpress.com/tag/epidermolysis-bullosa/)

Michelle Shriver and her group at Tropical Smoothie Cafe in Nevada

Everywhere I looked I watched as people from all over came together to support an amazing community, it was truly an beautiful and inspiring thing.

Although you may not think so, you all have something to offer, you too can make a difference.  We all have special gifts that we can share, that we need to share…

“There is a vitality, a life force, an energy, a quickening that is translated through you into action, and because there is only one of you in all of time, this expression is unique. And if you block it, it will never exist through any other medium and it will be lost. The world will not have it.” -Martha Graham

I want to encourage each and everyone of you to keep the momentum of awareness week going and share your gifts.  Maybe you are a great blogger who can offer to share the stories of some of these families, or even help them set up blogs of their own.  If you are a photographer like me, you can offer a tremendous gift to families through your portraiture.  Many moms I know are incredibly crafty and have their own businesses in which they can donate proceeds to help.  You can even do what my friend Andrea Ness has done, she coordinates a run in her community that is in honor of a sweet little girl Aubrey Joy Oberlin.  It is an amazing event that is driven by her dedication and her passion.  The list is really endless and every thing counts…every bit, no matter how big or small it all is part of the difference.

If you are reading this, I have no doubt that EB has touched you in some way.  Maybe you have been inspired by Tripp the way I have or maybe Easton, Liam or another person suffering has inspired you and you are looking for ways to become involved.  Please reach out, I, along with others are always more than happy to help people find ways to share their gifts because they are important and they can have a great impact.  So, let’s work together and make a change.  We can all  help the EB community, educate others, and support the research that will change the lives of many…are you ready?

Okay…it is time to Do Something.

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It is not often when we are given opportunities such as this, opportunities in which we have the ability to make a difference and impact the lives of others.  This could have gone much differently had I not followed my heart, had I not read that blog.  Things would be different had I just turned away, but I couldn’t.  Something drew me to Tripp and grabbed a hold of me.  I was gripped whenever reading Courtney’s entries…they were so incredibly powerful.  I watched as people started coming together to support him  and I was  inspired.  I knew I had to do more…

That is when my life was about to change…when my journey truly began…

I remember boarding the plane that Wednesday last October.  This was such a great opportunity, and I was so thrilled that my new friend Judy had reached out to me to help.  Finally I had a chance to do something for this sweet boy whom I had come to love.  I had no idea what to expect and I certainly was unprepared for what I was about to experience.  Here is an excerpt from a note I wrote after that weekend:

I remember walking through the door and the tears starting to come, I almost felt like I couldn’t breathe and I was starting to get lightheaded.  Then something happened that I will not ever forget.  I turned my body to my right and saw Courtney and Tripp in the rocker.  Courtney smiled her beautiful smile that we have all come to know and admire and Tripp was in her arms.  That is when it happened…all of a sudden a very odd feeling came over me.  I immediately felt a powerful comfort and peace.  It was amazing, and to be honest I am not sure I will ever be able to find the words to describe it.  Each moment I spent in Tripp’s presence I felt at peace.  That is not to say I did not shed any tears I most certainly did.  I shed tears of gladness and sorrow, but all the while felt peace.  I was in the ebb and flow of Tripp & Courtney’s love and it was absolutely AMAZING and so very powerful.  I am not sure that I will ever experience that again in my lifetime.  It was such and honor to witness it and be in it.  I am so very grateful.

Now with that being said I feel that I also need you to understand another aspect of my experience…witnessing Tripp’s suffering.  This is where it becomes difficult for me and I am not sure I am fully prepared to share, but I will try.  During my time, I was blessed with the opportunity to be a part of Tripp’s bath not once, but twice.  Such an intimate thing to be a part of, but I must say that although I had (as we all have) seen pictures, nothing could ever have prepared me for the experience.  As I try to find the words, my eyes well up with these tears because I am reminded of Tripp and his little body trembling.  It was so clear that he was not only trembling because he was cold;  he was clearly anxious and frightened depite being sedated.  Courtney and her mom carefully and gingerly removed his dressings all the while apologizing to him.  I just remember watching his face and his body language and feeling absolutely helpless.  As hard as I tried, I could not help but cry…this just did not seem fair.  Bath-time is supposed to be a time to laugh and splash not a time to be in agony.  As I watched Tripp’s face, it was clear to me that he was struggling and that he was in pain and then I saw it…out of the corner of his eye, one tear started to fall.  I watched as it ran down his face and at that moment his pain became so real that I could feel it and my heart broke.  That tear just really spoke a million words.  That tear moved me in a way that words simply cannot express.  I wanted nothing more than to wipe his tears and comfort him.  I felt helpless in that moment.   I started asking God in my head why on earth this has to happen…it does not make any sense.  Really?  I just cannot make sense of this…I want to , but I just cannot.  While Courtney brought Tripp to the tub, I remember watching and trying to stay out of the way, all the while feeling so compelled to just want to hold him and comfort him.  In my head I was going crazy and then there is his mommy gracefully bearing her cross and caring for Tripp as only she could. I saw it’s beauty and was once again comforted by the love that was flowing between them.

 I know that as I type, as hard as I try to convey to you my experience, it is just beyond words.  What I know is that we often see Tripp’s pictures and videos and they make us smile because he has such an amazing light about him…his spirit is so beautiful.  However, for me that has all changed.  For I know that behind each smile is this amazing and beautiful boy who spends his days fighting and even on his very best day he is still suffering tremendously.  I have seen his pain and I cannot forget.  I apologize if this has come up short, I am still trying to process through my emotions and I am not sure I will ever truly be able to articulate my experience in a way that is meaningful and in a way that really truly conveys it’s power.

My love for Tripp runs much deeper that I can tell you and I can assure you that I will never give up on him and I will fight to raise awareness so that all of his pain and suffering will never be in vain.  I am so thankful to Courtney for allowing me to be apart of Tripp’s journey and for being such an inspiration to all of us.  I know that I am abundantly blessed…

So, as we start EB Awareness week 2012, I reflect on the last year all that has changed; where this journey has taken me all because of one very special little boy who to this day continues to inspire me and guide me.

This may or may not be the path for you , but I encourage you to get involved any way that you can.  If you think you cannot make a difference, think again.  Allow your passion and your heart to guide you and I assure you that you will be lead to incredible places in which you will impact lives and your life will be impacted as well.  You can be a voice, you can provide hope…

There are so many ways to be involved on a variety of levels.  This week I will be posting on our Facebook Page different opportunities to raise awareness in your own community.  Remember, most of the important things in the world have been accomplished by people who have kept trying when there seemed to be no hope at all…

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No one planned for this, no one ever does.

What we did plan for was a wonderful, fun future of great friends raising children together and for them to become great friends.

My husband, and his three best friends Mark, Dave and Mike grew up together since youngsters. They got in trouble like boys do, they partied like men do, and after a while they met their future wives and settled down.

Enter myself, Mark’s wife Nicole, Dave’s wife Angie and Mike’s wife Tara.

LIFE WAS GRAND.

And then the ‘group’ decision was made to have children. And it was a group decision over many dinners, led by the men let me add, because they thought it would be great for their kids to grow up together like they did. And we agreed.

And so created these soon-to-be-momma’s:

Photo taken by Dave Oberlin. From left to right: Andrea, Nicole and Angie. Not pictured: Tara O’Brien

And in 2008, entered these monsters:

Caption: Photo by Dave Oberlin. From left to right: Boden, Brody and Morgan. Not pictured: baby Lauren

Two boys, two girls.

LIFE WAS PERFECT.

And living just around the corner, our son Brody and Dave and Angie’s son Boden have been and will forever be the best of friends.

Boden and Brody. Shirts by Aunt Lindsey Johnson.

So in 2010, it was time for round #2.

Mark and Nicole led this round, followed by Dave & Angie and Mike & Tara tied for second with their due dates only one day apart, then Tim and I following four months behind. And behold, there would be another two boys and another two girls to add to this growing family of friends.

After Mark and Nicole had baby Parker, it just so happened that both Tara and Angie had their baby girls, Valerie and Aubrey Joy on the same exact day, October 6, 2010.

Aubrey Joy Oberlin

But our fairy tale families quickly came crashing down. Aubrey Joy was diagnosed with THE worst disease, Epidermolysis Bullosa (EB) and shortly after diagnosed with THE worst and fatal type of EB, Junctional-Herlitz.

Baby Aubrey with Big brother Boden.

And before my baby could even see the world, on November 17, 2010, my soon-to-be son Tanner lost his very best friend.

LIFE WAS DEVASTATING.

Seeing EB for myself in a precious baby girl with such a loving future, seeing it cut her life so short and stole her from so many great special life moments, childhood birthdays, school graduations and those childhood memories with Boden, Brody, Morgan, Lauren, Parker, Valerie and Tanner just longing to be had.

Photo of O’Brien family. Valerie, right, was born the exact same day as Aubrey Joy.

Seeing the pain and devastation of our best friends and their family, flipped a switch in me.

No one ever deserves this much pain. NO ONE.

So the first day of Aubrey’s life was the spark that made me decide to BE better. To DO better. And to appreciate EVERY little moment we have with our children and our loved ones. And once that was engrained, it was time to FIGHT. To fight for something bigger than me, to fight for those that NEED a voice, and for a rare disease that is longing to be heard, and be cured.

And since that day, and the painful day she left this world my mission has been and will always be:
To find a cure for EB, while helping EB families along the way.

Without going into detail, since I don’t do it for the recognition, I’m happy to say, I think I made a dent in the EB world.

BUT I’M NOT DONE YET.

Andrea Ness

Thanks for listening.

P.S.

If you would like to join me in honoring Aubrey Joy’s life, you can do so by clicking here: http://bit.ly/andrea.ness

If you will be in the Michigan area on October 21, 2012. We hope you can join us at Aubrey’s Butterfly 5K Run/Walk for EB. Learn more here: http://aubreys5k.org,

Or spread the word by sharing our awareness video:  

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