In the words of Jackie and Brett Kopelan, Rafi’s parents:
Rafaella Lily is now 7 years old and is in 2nd grade at the School at Columbia University. She was born with a severe form of a rare genetic connective tissue disorder called Epidermolysis Bullosa (EB). Her type of EB is called Recessive Dystrophic EB – Generalized Severe. It means Rafi’s body has difficulty producing a working form of an incredibly important protein called collagen 7. It’s a terrible disease that affects just about every organ and bodily system. To learn more about EB click HERE. The most obvious symptom that people see is that Rafi has blisters and wounds on her hands, neck, and face and generally all over. Her skin is so fragile that simply scratching an itch results in her tearing her skin off. The seams of a shirt may cause blistering under her arms. She might wake up one morning with large areas of her pajamas soaked in blood.
Rafi is one of the strongest and bravest people on earth. The difficulties she has faced in her short life, and the painful challenges she continues to endure every single day, are unimaginable to the rest of us. She lives a life of discomfort, anxiety and loss of function. Yet, Rafi will tell you she is just like every other kid. She loves to watch movies like Frozen, loves the swings, loves to sing, loves to draw and paint. She loves her dog. She has said to a packed auditorium of pharmaceutical employees (really there were 250 people there) that “people say I can’t be hugged or touched and that is not true”. She met with the CEO of that same large pharmaceutical company and said “I am just like everyone else”.
Put yourself in Rafi’s shoes for a minute. This is your day:
You wake up early in the morning and you’re anxious. You are concerned that simply going to the bathroom is going to hurt, and it does, a lot, you may even scream. Are your pajamas stuck to any wounds you created last night while asleep? You can’t just rip it off unless you want to lose a lot more skin. You might as well be using sandpaper instead of a tooth brush, because even the infant brushes hurt your mouth. Now you have to change your neck bandages and a cleaning solution needs to be sprayed on your neck’s open wounds, it really stings. You are hungry but it’s hard to swallow and your mouth doesn’t open very wide so you can only eat a little, especially given there is only 5 minutes to eat before school. You are always hungry but you eat slowly so can’t get a full meal in. By 4:30 you are really scared because you know bath and bandage change is going to hurt even with the prescription pain medications. With up to 70% of your body as an open wound, the water and soap burns bad and your skin throbs and nothing can stop the knives from being stuck in further. Screaming helps a little, but it gives you blisters in your throat. Hopefully no bandages were stuck. By 7 o’clock the torture is done and if you are lucky you’ve gotten to have some dinner before bed. Tomorrow is another day……
Rafi now deals with many issues brought on by her EB. She is in pain a lot. She hides it well, but you can see it in the way she walks, the way she stands and sometimes in the way she talks. She is anemic, has cardiomyopathy, suffers from osteoporosis, and deals with a mitten deformity which means she is losing the use of her hands. She has to get an IV every other month for a blood transfusion, she hates it. She is hooked up to a machine every night that feeds her formula through her g-tube and she does not want to rely on it. Yet, she goes to school every day and hates to miss even a day.
Rafaella Lily, Rafi for short, was born on November 19, 2007 on the Upper West Side of New York City. She was a beautiful baby who happened to be 2 weeks late. Two different doctors told us that the missing skin on her feet and the back of one hand was caused by the fact that she was “overcooked”. That was the official diagnosis, “overcooked”. Six hours after she was born she was taken to the Neonatal intensive care unit (NICU) where she spent the next 35 days.
The next morning was scary and life changing. She was in “reverse isolation” away from the other babies to protect her from infection. Her body was covered in blisters and nobody could tell us anything. They didn’t know what was wrong and they didn’t know if she would ever leave the hospital. Eight days after she was born they tested her for EB. To say that we were devastated when we read about her severe form of EB would be reductive. There was NO CURE or treatment. Wound care and pain management would be the hallmark of her short life. A life filled with pain, anguish and disability. That is, if she would only make it out of the hospital.
8th Kid in the World to Receive a Stem Cell Transplant for EB
It was a difficult decision and a very trying, stressful time in our lives. It was a truly horrible experience. Our hope was that her new cells would produce collagen 7 and that this procedure would treat her EB or even cure it. We lived in Minneapolis for almost 2 years as she underwent and recovered. Rafi got 10 days of high dose chemotherapy to stop her body’s ability to create cells. She received donated cord blood from a German girl and for the next 90 days we sat in a hospital room waiting.
It was a tough road for Rafi and for us. At one point, we didn’t think she would survive a bout with pneumonia. A machine was breathing for her and they used drugs to put Rafi in an induced coma. It was very scary and difficult to endure. We were told recovery for a sickness this severe is measured in months, if at all. Ten day s later, Rafi was out of the ICU, awake and active. She surprised everyone. One doctor even joked that she must have a liver and kidneys made of steel given the amount of medications that passed through them. A few months later, she caught a virus that would have developed into non-Hodgkin’s lymphoma, a death sentence, had she not undergone another round of chemotherapy. Even then, there were no guarantees. Once again, Rafi beat the odds.
The transplant was considered successful because she now produces collagen 7, but not enough to really treat her EB. Perhaps all of this led to a less severe form of the disorder. You can read about her journey through transplant here: www.rafisworld.com
Rafi now needs to go into a hospital every other month. We alternate between Montefiore Children’s Hospital here in NYC and Cincinnati Children’s Hospital where she undergoes a throat operation every four months to make sure she is able to still swallow her own saliva. She attends a wonderfully supportive school, The School at Columbia University and is lucky to have so many people care and love her. Jackie said in a speech at the first Rafi’s Run that we felt lucky when she was first born and told she was perfect, then it only took hours for that feeling to change….but from all the love and support we’ve received we feel lucky again.
Thank you from the bottom of our hearts,
Rafi, Jackie and Brett Kopelan