Imagine…

Imagine… for a moment, being so thrilled about finally having that baby you longed for so long. This is 21 months after the unimaginable happened, when you had to bury your first baby, being told, in a little room in a hospital, that your second newborn would most likely not reach his first birthday. Imagine being told that there is no cure, no treatment, all you have to do is instantly be transformed into a nurse, insurance not paying for the expensive bandages needed to care for this child, and all you can do is wait for the inevitable to happen with no hope.

Nicky1_2That was me on November 26th, 1996, the day after my son Nicky was born. Those words still echo in my psyche: ‘No cure, no treatment’. As a matter of fact, there was nothing happening anywhere in the world to even attempt at curing EB at the time, it had only been 3 years earlier that they had discovered what caused EB, a genetic defect. Apparently my recessive gene for the skin was defective, and so was my husband’s. The defect lied in the fact that it did not produce enough Collagen Type 7 which acted like a glue between two layers of skin, the epidermis and the dermis. Without this glue, the skin tears away or blisters at the slightest touch. Nicky had only inherited the two defective genes, which usually would automatically be recessive when paired with a healthy gene, but with two defective genes… one had no choice but act like a dominant. This is why “RDEB” (Recessive Dystrophic Epidermolysis Bullosa) is so rare, there are less than 600 cases in the entire United States.

Thankfully, the Doctor was wrong. He was no true expert in EB anyway. RDEB is not considered an immediate death sentence. Then again, at the time, he did not know what ‘type’ of EB he had, and since Nicky looked so horrible (I wish I had taken photos, I still cringe at the memories) he probably assumed he had the worst kind. Nonetheless. I quit my job to take care of my son full time and that’s when the search for something -anything that could help- started.

In the past 16 years we tried all kinds of ointments, creams, herbs, foods, prescriptions, medications, oils, patches, juices, powders, soaks, injections… (yes, Mannatech even) anything and everything you could possibly imagine. Some worked… a little, but let me be absolutely clear, NOTHING lessened the amount of blisters he got. About the only thing that lessened the blistering was to pad the area with bandages so the skin would not accidentally get nicked  and learned over the years to pad some areas even more to avoid him hurting himself by scratching. Yes, “Webril” worked wonders, true wonders compared to any herb or cream Nicky has ever tried.

Let me explain. Some things, like zinc oxide 40% cream (found in Desitin diaper rash cream) helped heal ‘some’ wounds VERY WELL, but only ‘some wounds’. “Some” oils helped in keeping the skin from becoming flaky.  We love Coconut oil and still use it today (see picture below). Other things helped in getting rid of infections (anything anti-microbial and tea tree oil works really good on Nicky). Vitamins & herbs, help his immune system and such. Even with all these things, which I still use today and I consider ‘minor help’, nothing has ever changed or minimized the amount of blisters/wounds he gets. Nothing. Because I run the EB Info World website, and have done so for over a decade, for a while there (before I removed the ‘contact me’ out of pure desperation) not a week would go by without someone telling me about some miracle cream, herb or whatever else they were trying to sell me. Some guy in Phoenix, after my story ran in the local Newscast, sent me several jugs of this ‘Miracle Water’. Hmmm… OK.

Look, I understand people are just trying to help, I get it. I am thankful, but it’s the attitude associated with the suggestions that hurts the most.  To assume I haven’t tried ‘everything under the sun’ in 16 years, and tell me that “I am wrong” when I tell you that a ‘genetic disorder’ cannot be cured with herbs, it’s just disrespectful in so many ways I cannot even begin to describe. As I said before, and I will say it again, EB is genetic. This means the DNA works differently than mine or yours. Think of it this way… I have blue eyes, do you think an herb or some weird diet is going to change the color of my eyes to brown? Of course not. The only way to do that would be through genetic modification. This is extremely complicated and what Stanford, USC and others around the globe are working on as we speak, they are trying to fix the ‘code’ genetically.

643902_10151296251882174_680792174_nI also very much understand that some herbs and medications can work in keeping other genetic disorders and conditions at bay temporarily (not cure). I take a pill for my thyroid everyday for example, it does not mean the pill cures it, it just temporarily makes it work fine. But none of this has ever worked with EB. There are patients older than Nicky who went through hell with Doctors trying to inject and give this Collagen (depending on what form of EB they have) that they were not producing in many other ways, orally, injections etc. and this does not seem to work for EB. It just doesn’t. Just because something works for some genetic disorder, that does not mean it will work for others. And just because something works for one form of EB it does not mean it will work for others, heck, something might work for one patient, but not for the other even though they have the same form of EB. That’s the problem we encounter with this sort of non traditional methods, it’s all a crap-shoot. Does that mean we don’t try? Of course we try, we all tried. Do you think I would let my son suffer and not try anything under the sun? I wouldn’t.

However, this is why, in the end, we want something that truly cures or helps EB. Our children suffer too much to be guinea pigs anymore. Please support the work Stanford is doing and the work they are doing at USC to help cure EB, at least that’s the two that Nicky could benefit from among others. These research studies are funded in part by Debra and the EBMRF. These studies will tackle individual’s DNAs and modify them to either make skin grafts or to be infused to fix the code, either permanently or temporarily. There is a real hope these trials, soon to be started, can help treat EB patients within the next 5 years. It’s our best hope yet.

So, in the end, am I asking you to not suggest things that might help? Of course not. As a mother, I try new things all the time. But please, don’t call it a cure, don’t tell us “we’re wrong” when we tell you that a cream/herb/diet cannot cure genetic disorders, don’t make empty promises or give me or other parents false hopes or lofty “it will all go away” ideas about yet some other miracle, magical drug or assume we haven’t tried it already. Give us some respect it’s all I ask and don’t pry or try to benefit on our desperation.

Thank You,

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