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.
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.