This was an important week for Epidermolysis Bullosa Awareness.
An article about a boy in Germany that was treated with skin grafts from Dr. De Luca in Italy is making the rounds around the world. (Here’s the link for the CNN article).
The original research article that was published on Wednesday (the link is here) explains how it was all done. It’s complicated stuff, but here’s a quote from the CNN article that explains how it works:
To obtain the skin’s stem cells, the doctors took a small biopsy — only accounting for 1½ square inches — from an unaffected part of the boy’s skin. The stem cells were processed by De Luca in Italy. A healthy version of the gene that is normally defective in epidermolysis bullosa patients was added to the cells, along with retroviral vectors: virus particles that assist the gene transfer.
Needless to say I received dozens of messages from many of my friends and family alerting me of this therapy. Many said: “I am sure you’ve seen this”. Hmmm… yes, LOL. Not only we’ve seen this, Nicky was part of the same trial at Stanford. Nicky received the skin grafts in his forearms in late January 2015.
The skin grafts did work on Nicky. He could tell that his skin felt different in those area. He was thrilled beyond measure. Within a month, however, a big blister appeared in the middle of the area that was grafted. To say that we were upset is a gross understatement. In Nicky’s case unfortunately they later found out he has antibodies that fight the new collagen and destroy it, so it didn’t work so well. They are looking for a way to suppress them, but alas, it’s a problem. Nicky always must be unique!!! Nicky’s arms did improve overall and Nicky is not regretting getting them. This past year, after a biopsy, the Dr noted there is still “some” collagen present in the area, which might explain why his arms are not as bad as they were before the grafts. Nicky has put future grafts on hold, however, opting instead to wait for future trials that include the cream trial that he’s undergoing at the moment, and an infusion trial that will hopefully start sometime in 2018 which would use the principle of the grafts and infuse him instead, so the whole body can benefit instead of only one area. Of course we will need to address the antibodies issue as well. Time will tell what we’ll do about that.
It’s also important to note that the boy in the article has a different form of EB than Nicky has. Nicky has Recessive Dystrophic, while that boy had Junctional. Different forms of EB are very different from one another, which means that some complications that Nicky has, such as the internal issues or the webbing, did not affect him. This is because the mutation works differently with different forms of EB. Dr. Uitto did speak of this in the CNN article:
“This is one case with a distinct type of EB, and further studies will show whether this approach is applicable to other forms of EB as well,” Uitto said. “It should be noted that in some severe forms of EB, the patients also suffer from fragility of the gastrointestinal and vesico-urinary tract, and some forms are associated with the development of muscular dystrophy. Obviously, gene therapy of the skin cannot correct them, and these issues have to be addressed in further studies.”
At any rate, we are very thankful we are at the point where so much research is being done to cure EB. I remember being in Italy in 1998 when they were doing a telethon to raise money for rare disorders and Dr. De Luca spoke about needing a cure for EB. This was nearly 20 years ago! That’s crazy to me. In 2 weeks Nicky will turn 21… I am just bewildered about that thought alone!!!
Thank you everyone for caring and keep sending positive thoughts to the Doctors researching a cure, we need them to work as fast as possible.
Love & Light,
