Rafi was diagnosed with a very rare genetic disorder, called Recessive Dystrophic Epidermolysis Bullosa – Generalized Severe, in the first week of her life. Those are words we initially feared and now hate.
You can read about the disorder by clicking here.
Rafi is one of the strongest people on earth. The things she has dealt with in her short life, and continues to endure, is unimaginable for the rest of us. She lives a life of pain and anxiety. Yet, she smiles. She draws. She rhymes. She reads. The simple fact that she gets out of bed every day and goes to school or that she smiles at all is amazing. She is awe inspiring.
Put yourself in her shoes for a minute. Imagine having your entire body wrapped in bandages as if they were a third layer of skin. Imagine having to undergo a daily bath and bandage change that lasts about 2 hours and is incredibly painful. Think about the last time you had an abrasion and got into a shower. Now think about having up to 75% of your body as an open wound. How anxious would you be, knowing that your parents have to hurt you daily in order to keep you healthy? Imagine waking up every morning and worrying that your pajamas are stuck to your skin from the dried blood caused by scratching in the middle of the night. Imagine knowing it is going to hurt every time you go to the bathroom. I dare you to try and not to scratch an itch.
Over the past 5 years, Rafi has been an inpatient in one hospital or another for a total of about 7 months. Because she has stopped swallowing, even her own saliva, 4 different times, she’s had 4 surgeries to open her throat. We found out during one of these surgeries that Rafi was dangerously anemic, life threatening in fact. We were lucky she came out of anesthesia, we were told.
Because of the severity of her EB, we decided, after a lot of hard thought, that Rafi would become the 8th child in the world to undergo a stem cell transplant clinical trial. Our hope was that it would cure or at least treat her EB. We moved to Minneapolis for almost 2 years so that Rafi would have high dose chemotherapy to stop her body’s ability to create cells. She would then receive a transfusion of donated cord blood from a little German girl. The transplant would then hopefully result in Rafi being able to create new cells, healthy cells, that no longer had the genetic mutation that didn’t allow her body to create collagen 7.
It was a tough road for Rafi. At one point, we didn’t think she would survive a bout with pneumonia. A machine was breathing for her for 10 days. It was very scary and difficult to endure. We were told that recovery for this extent of sickness is measured in months, if she recovered at all. To the surprise of all, she recovered in 2 weeks. One very surprised doctor joked with us saying that she had kidneys made of steel given the amount of medication that passed through them. Later on in her journey, Rafi developed a virus that would have killed her had she not undergone a second round of a type of chemotherapy. Even then, there were no guarantees. Once again, she beat the odds.
While the transplant is considered a success, Rafi is still not cured. All of the cells that her body now creates are of donor origin and have the ability to make Collagen 7, the protein she couldn’t make before. These new healthy cells have made their way to her skin as well. Last we checked, 30% of the cells in her skin were of donor origin, thus healthy. Also, it now take a machine significantly more time to make a blister on her than it did before the transplant. Yet, she still has EB. Perhaps her current EB is a more mild form. Perhaps, over time, she continues to improve. We just don’t know. What we do know is that more needs to be done.
You can read about her journey through transplant here: www.rafisworld.com
Why would we put her through an experimental treatment?
Rafaella Lily, or Rafi for short, was born on November 19, 2007 on the Upper West Side of New York City. She was a beautiful baby who just happened to be two 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”. Six hours later she was taken to the neonatal intensive care unit (NICU) where she spent the next 35 days.
We would later say that when we saw Rafi the next morning in the NICU, the world dropped out from under our feet. She was in her own room separated from the other babies, so that she would be protected from infection.. Her body was covered in blisters and she had a lot of missing skin. Nobody could tell us anything, they just didn’t know the cause and we weren’t sure she would live for long. We were lucky to get a diagnosis fairly quickly, but that didn’t allay our fears. When we read about her diagnosis, it scared us. We read about EB and the fact that there was no cure or treatment. Wound care, and pain management were our only options. We were told she would live a short life filled with pain, anguish and disability. If she would only make it out of the hospital.
And she did. And a lot has happened since. We moved to Minneapolis to undergo the stem cell transplant, came back, have taken three separate trips to Cincinnati for emergencies relating to her EB and have now settled on the Upper West Side of New York City. Rafi went to preschool at Montclare Children’s School, an incredibly supportive and amazing place. Now she is in another wonderfully supportive place, The School at Columbia University. We really couldn’t have asked for better places for Rafi. Both have accommodated her special needs and allowed her to flourish. We are lucky.