1/2,381,000

I got hit with a big blow yesterday, one I’ve known all along nonetheless. As the DNA results came back that Nicky did in late April at Stanford to find out if he’s eligible for the skin graft trials, I’ve been trying to decipher them myself. I will talk to the Doctor this week (hopefully) to find out if he’s a candidate, in the meantime through my googling I found out that Nicky does have the “Hallopeau Siemens” subtype, which is, sadly, the worse form of Recessive Dystrophic EB. Yes, he has a nucleotide substitution in exon 109, and the mutation is denoted R2685X at the protein level, which points to RDEB-HS and ONLY to RDEB-HS. Ugh. I found this out on THIS LINK, which speaks of this particular strand being of Italian origin. Upon further research I found a link of all the different RDEB-HS mutations in Italian families in THIS LINK. My heart sank. Of course the term ‘Hallopeau Siemens’ is not used anymore, it’s been changed to “severe generalized” in more recent texts, but a lot of information “out there” still refer to it as HS, so I will use them interchangeably.

When I say that my kid is one in a million, I am not exaggerating at all, in fact, he’s 1 in 2,381,000 millions. That’s how rare RDEB-HS is. Considering the population in the US as of right now is about 318 millions, this means that there are about 134 patients with this diagnosis in the entire country and one of them is my son. It’s insane.

I was surprised to read some of the comments below my findings… some parents thinking that there were no ‘subtypes’ of RDEB or that it was either HS or non-HS. That is not correct. I’ve always felt it was my quest to spread EB awareness and knowledge (which is why I created EB Info World back in the day when Nicky was an infant) and one of the reasons why every EB patient is different is because they can all have different subtypes, which can vary widely. There are MANY subtypes of EB for all forms. This is why what works for one patient does not work for another and we cannot lump them all together. It has been very hard for me over the years to explain to the various Doctors, Nurses or other patients why whatever product or course of action did not work for Nicky, it just didn’t. We’re all dealing with our own thing here, and Nicky being one in 134 patients nationwide, I can’t expect to find an expert to tell me what would unequivocally ‘work’ for my son, only Nicky and I, through trial and error can be the judge of that.

So, in an effort to be as thorough as possible, here’s the different forms of RDEB according to Dr. Fine. Complete table for ALL forms available HERE:

Here’s a website with a really good explanation of the form Nicky has, severe generalized, also known as Hallopeau Siemens. it. The last sentence was particularly hard to read, even though I’ve known this all along. When they mention SCC they refer to Squamous Cell Carcinoma, a form of skin cancer that is somehow fed by the absence of Collagen Type VII. What I mean is… normally the Collagen Type VII prevents this type of cancer from spreading, so this is why it spreads so fast in RDEB patients. They have none. My biggest nightmare is SCC. It only appears in non-healing wounds, which is why I wrap Nicky to protect him from getting wounds in the first place and make sure his wounds heal properly. Anytime anything looks strange I send a picture to the Doctors. Prevention is our only cure right now.

Of course, at the end of the day, nothing’s changed. We still have hope, especially in the trials. At the moment we’re waiting to hear from the Doctor’s office about a referral to Stanford to get a throat dilatation. Nicky is having a hard time swallowing his own saliva so hopefully once we get the green light the Doctor can take him in ASAP. He’s in a lot of pain right now.

Thinking positive, pushing through every day… one day at a time, that’s all we can do.

Love and Light,