It Is What It Is

Have you ever had that feeling of being so completely overwhelmed and depressed, yet refusing to give up because, well, you’re not made that way? That’s how I am today. Sometimes I wish I was the kind of person that just ‘gives up’, ‘put a fork in me, I am done’. This whole thing we call life is just depressing.

IMG_3673_sk The thing is… I can accept EB and what has brought into my life, but the sheer amount of pain it has brought to my son on a daily basis, it’s just incomprehensible to me. I don’t get it. Yes, 17.5 years later, things are getting worse, much worse, and I just don’t understand why, how, what the heck? When I say ‘My son is in hell’, it’s not a figure of speech. He is. And yet, he refuses to give up, he has hope, he enjoys life. Faced with such amazing courage, who am I to complain?

15 years ago my now husband started calling me his ‘princess’ and he was, of course, my ‘prince’. This is why our wedding was at the ‘Excalibur’ in Las Vegas (we were dressed up as King & Queen to boot) and this website is called my ‘Kingdom’, but let me tell you something, I don’t feel as if I am the Queen of anything. Yes, Nicky has called me the Queen of bandages, that about sums it up. I am the Queen of medical supplies. That’s where it ends. I overheard someone a few months ago, and I am not sure if they were talking about me or not, but they stated how upset they were about ‘someone’ being the ‘Queen’ of having a child with the worse form of EB, and who gave ‘them’ the crown etcetera etcetera. It was all very sarcastic and void of compassion or care. I was so upset over that remark, wether that was meant for me or not, I am still thinking about it. I don’t remember ever saying that Nicky has the ‘worse’ form of EB, because, well, he does not. I’ve seen worse. I’ve seen babies dying. I’ve seen children dying. I’ve seen adults with cancer, with limbs amputated, in kidney failure, liver failure… the list goes on.
Nonetheless, what Nicky deals on a daily basis, the pain is in, is pretty horrific, and how dare anyone have so little compassion? If someone is in more pain than you, are you mad at them because they get more attention? Of course not. It’s all about being human. Anytime I hear of another EB patient becoming an angel or go through an unexpected medical emergency, I don’t think of myself, I put myself in someone else’s shoes and shed a tear for them. I don’t want a crown, I am not the queen of anything. I would give my life for Nicky to be spared his pain. I speak out because Nicky wants people to know about his disorder. I don’t much words, I don’t exaggerate, I tell it like it is. We need a cure. Awareness is my goal. For better or for worse, EB is what my life revolves around. It is what it is.

And how dare anyone that is not dealing with a medical crisis (as it seems we always are), or has something manageable or painless can tell anyone, let alone me, how “We all have our mountains to climb”? I am sorry, but Nicky’s mountain seems more like twice the size of Everest. We’ve been climbing mountains for nearly two decades, and the climb is getting more and more steep. I don’t want the climb to end, because that means my son’s life is over, I want a cure to ease the pain, ease his life. That is all.

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Nicky just before the surgery

So… this past week has been a roller coaster. Nicky could not swallow his own saliva, that’s how bad his throat was closed up. He was in a ton of pain. Amazingly enough (I still can’t believe it!) the insurance approved an emergency throat dilatation at Stanford, and by all accounts the surgery went well, but seeing Nicky throwing up blood from his mouth and nose in excess at the hospital was just too much for me. I felt weak in the knees. It lasted for hours. While I was at the hospital I then went up to see Nicky’s friend Garrett, who also has RDEB-HS and is two months younger. He was in the PICU following oral surgery, and to see him just lying there with his lips caked in blood, I mean, for goodness sakes. His mom later told me his tongue had fused to his lips and he ripped them off with a cotton swab. Good God!!! I gave him a few sweet kisses, because I know kids like these (even though at 17 they are not kids anymore) need so much love and suffer so incredibly, it really makes me mad when anyone diminishes their suffering. You know, when people give me those ‘We all have our crosses to bear’ platitudes. I know I speak for Lorraine (Garrett’s mom) as well in saying if only we could take away 50% of their pain, they would think their life was a vacation. Nicky and Garrett, severity wise, are pretty much par-to-par with a few differences here and there. They are both genetically classified as Hallopeau Siemens (now called severe generalized RDEB) which is sadly the worse form of RDEB. I am not saying this because I want pity or sympathy or a crown, I am just stating a fact is all.

There are many different genetic mutations of RDEB, which is why some RDEB patients, while in pain, don’t need to be wrapped much, can be independent, drive, get married, have a family etc, and some seem to be on the opposite end of the spectrum. Nicky and Garrett are at the end of this spectrum. I don’t stop Nicky from doing anything he wants to do, but his limitations seem to stop him from doing just about anything. I have to dress him, get him water, needs help going to the bathroom, can’t really walk… everything needs to be done for him. He’s also on the self-preservation side, so he won’t do something if he feels it’s going to hurt him a great deal. He’s basically an adult now, I don’t tell him what he can or can’t do, I let him make his own decisions and my job is to encourage him and help him do whatever he wants or needs to do.

Nicky is still in the midst of throwing up now, but not of blood, just mucus and he’s dealing with the pain of it all. To say EB sucks it’s a major understatement. He is trying to drink very cold drinks to numb his throat. I can’t wait until he’s no longer in pain and his throat heals completely so he can at least try to eat something, not sure if that is ever going to happen though, not soon anyway. Please keep him in your prayers!

Wound-wise he’s not doing too bad actually! I pad him excessively so he does not literally scratch himself to death. Itching is a major component and the main reason for all his wounds, so to keep him padded and dosed up with anti-itch medication seem to do the trick. The less wounds the less infections and possibility of cancer etc.

Thank you for your care, compassion and understanding.

Much Love,

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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. 467516_10151222382997174_1352643367_oI 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:

Recessive dystrophic EB (RDEB)

RDEB, severe generalized (RDEB-sev gen)

type VII collagen

RDEB, generalized other (RDEB, generalized mitis (RDEB-O)

type VII collagen

RDEB, inversa (RDEB-I)

type VII collagen

RDEB, pretibial (RDEB-Pt)

type VII collagen

RDEB, pruriginosa (RDEB-Pr)

type VII collagen

RDEB, centripetalis (RDEB-Ce)

type VII collagen

RDEB, bullous dermolysis of newborn (RDEB-BDN)

type VII collagen

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,

LS_bfly.love.Silvia

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Have You Read A Good Book Lately?

Click on the image to be taken to Amazon to read more about it…

I don’t often recommend books, and I must admit, I am an avid reader, so I should do it more often. The type of book I look for, however, is not your novel or anything that is fictional. I feel as if there is plenty of time during the day to take my mind off my daily struggles with my son. There is TV, there are movies, there is Facebook, there are trashy magazines, there are hugs and kisses and so much more. But because I have such little time to read, and because I feel as if I have an hour to myself I want to read something that helps me in my life, I go for biographies. I want to know how people survive incredible odds. I want to know how anyone survives when life hands them lemons. It could be how they handled a particularly tough childhood, divorce, death of their child, disability of any kind… but when I came across this book called “I Shall Live” by a holocaust survivor I felt, YES, I hit the proverbial motherlode.

To be perfectly honest, I never read anything so riveting. Here’s a very intelligent young Polish guy, living his life with his family when WWII hits. I don’t know why this book was never made into a movie. This guy did it all. He survived everything and in the book he tells us how, what he thought, the fears and the atrocities he witnessed. He should have been killed so many times and somehow he made it through by ingenuity, by luck, by how fast he ran… the stories in this book make my life feel like child play. It’s always nice to have prospective, and this book gave me a ton.

I did some research on Henry Orenstein… not only he survived the holocaust by running, hiding and the lack of food in concentration camps, but after having been rescued by Soviet troops, he emigrated to the United States and became the toymaker who convinced Hasbro to start producing the Transformers. After his retirement he discovered the world of poker and invented the hole card camera, a table level camera which allows television audiences and announcers to view players’ hands and hidden cards. This innovation led to a boom in poker tournaments and television shows, some of which were launched by Orenstein himself.

Why isn’t there a movie on the life of this incredible man? Common Hollywood. In the meantime, if you want some prospective in your life, read this book. I promise, you will never forget it.

 

Hugs and Blessings…

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A Grateful EB Mom

The word of the day might as well be ‘awareness’. Not only Nicky’s book was featured on a story on FoxPhilly, but a good friend told me how anytime he buys EB eggs he thinks of me! That was too funny.

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Nicky and Connor at Camp

At any rate…  we got back from Camp Wonder  this past Saturday afternoon and the boys can’t stop talking about it. It was magical as always. To have a Camp sponsored by companies such as Cetaphil that enhances the lives of children in great pain every day, it’s beyond humbling. The Children Skin Disease foundation is doing amazing things and I will forever be grateful to the Tenconis, especially Francesca, who make it happen every year. THANK YOU!

As a mother, to have a place for me to leave Nicky and know that not only he’s going to be taken care of, but have fun, when I can’t leave him in anyone else’s care during the year, it means a lot. This is why the other moms and I are able to take little excursions during the week and have the ‘me’ time we rarely if ever have. We talk, sightsee, take our time… I can never really “take my time” when I go anywhere unless I know my husband is at home to make sure Nicky is OK. I can’t really leave Nicky alone more than a few hours at a time. He can’t walk or even do simple things like open the fridge or go to the bathroom. Yet, his sense of humor always leaves me chuckling. He told me on the car on the way home that another camper told him that EBers don’t live longer than 18 years. Nicky is going to be 18 in November. Do you want to know what he told him? “You’re wrong, Bit$#”. Bah ha ha. Nicky does not ever cuss, so this was just hilarious!

Now that we’re home all of a sudden his throat is 100% worse so he told me he really needs a throat dilatation… I started working on getting the referral, the last one was almost 3 years ago so that’s awesome that the last one lasted this long. I will write a more detailed blog on Caringbridge soon with all the details. We also received the DNA results which will tell us if he’s eligible for the skin graft trials at Stanford once he turns 18, I will wait to talk to Dr. Lane to figure it all out before I post that update.

Since the story aired a lot have commented how Nicky does not look 17 and looks maybe 12. When Gina asked me why I had to do a double take because I knew, yet I didn’t know how to explain it. The bottom line is that his body requires a LOT of calories. Even though he’s tube-fed and gets about 2000 calories or more every night, that’s not enough. The nutritionist wants me to give him 5 cans a night at 500 calories a piece, but as it is I have a hard time getting 4 in at 100ml per hour. Recently we also sadly figured that the reason why Nicky was having all the stomach problems that he has was because the Nutren 2.0 had High Fructose Corn Syrup rather than sugar. When we briefly switched back to the Nutren 1.5 his problems disappeared. That’s 500 calories LESS calories per day though. Ugh. What are we to do? What is the less of two evils? We might start combine or switch back and forth. He has a big tummy and being heavy makes it worse for him to move around, but the reason why he still looks 12 is mostly because he hasn’t gone through puberty yet. He has no hair anywhere, his voice hasn’t really changed. Is that a bad thing? It’s all relative I guess. I was bombarded when I mentioned the fact that he would most likely not get married the way he is now, without a cure. EB patients that are not nearly as severe as he is called me all kinds of vile names. I was not talking about them. I was talking about my son. My son knows what his limitations are, he has accepted the fact that as it is, many things are out of reach. I asked him what he would do if he was EB free for 1 single day. His #1 wish? That he could EAT. Eating is a big wish in his book. If that does not explain what we’re dealing with here, I don’t know what does.

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Vintage Silvia… I must get this shirt.

Finally… oy. It’s a big birthday for me in a couple of days. I will hit the half-century mark. It’s weird how I felt much worse turning 30 than I do turning 50. I think part of it is the fact that two of my closest friends died in their 30s. My childhood friend Paola died of a brain tumor when she was 38, leaving her 2.5 year old little girl behind which took her 10 years and 3 IVFs to conceive. Life is just cruel sometimes. My former boss and amazing friend Darren died from complications of his HIV diagnose also at 38. That old saying that goes… “Don’t regret growing older, it is a privilege denied to many” comes to mind. It is what it is. Aging is out of our hands, I will never hide my age. I am good with turning 50. Hear me roar! I am still a work in progress and I have work to do. I want to see Nicky be cured because I refuse to give up hope. I had a long conversation with Nicky a few months ago and asked him how he felt about his life. I made sure he knew I was in his corner no matter what. I wanted him to know that if he “hung in there” I would as well, but if one day he decided that ‘enough is enough’, as heartbreaking as that would be, I would respect his wishes. He told me flat out that as long as I was there to take care of him, he would have hope.

So, if you have a minute, please say a silent prayer not only for Nicky, but for all EB kids and adults out there who live daily with pain and please spread the word if you can.

Much love and blessings,

smalldolly1

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New CaringBridge Post & Blister Musings

logo-caringbridge-stacked-facebookJust a quick note – I just updated Nicky’s blog at CaringBridge… I talk about his recent struggles, results from his biopsy and camp stuff. Here’s the link! http://www.caringbridge.org/visit/nickyz/journal/

On another note, I recently came across this BLOG I wrote for the EB Info World website a couple of years ago and I thought it really belonged here, so I am reposting it.

Many blessings to everyone and keep reaching for the stars!

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Help! I have a blister!

 

I couldn’t help but be amused the other day while visiting Target by one of these little packets containing Hydrocolloid Bandages.
I was amused by two reasons:

1. Obviously amusing is the fact that I would need to get hundreds just for one week’s worth of bandage changes for Nicky. Ha Ha

2. Weirdly amusing is the fact that every doctor will tell you that unless you have EB, blisters should go un-punctured, hence not needing any bandages to begin with, which reminded me of a time several years ago when I was foolish enough to pop my own blister. Oy!

As a side note, EB blisters need to be punctured as they will spread if left intact, in case you did not know.

I’ve experienced the need for these bandages first hand on one hot July day in 1998 on a trip with my parents and Nicky to Bassano Del Grappa, a beautiful city by the river Brenta in the Veneto region, near Vicenza, Italy. I made the mistake of wearing a new pair of shoes, nothing fancy, just a pair of white canvas shoes. My mom and I have never been able to walk much on a new pair of shoes (probably why I love boots & sandals so much, I never had a problem with those), and that day I came home with quite a few blisters on both my feet. I hadn’t seen blisters on my feet in a dozen years, so I was quite shocked, and having seen and punctured Nicky’s blisters now for nearly 2 years, instinctively I immediately grabbed a needle and popped the ones on the first foot-only to realize… WAIT! I am not supposed to pop MY blisters!! Oops.
Those punctured blisters’s wounds lasted at least a week and they were VERY, VERY painful, while the un-punctured ones hardly hurt at all and were gone in a couple of days. I will never make that mistake again!!!

Incidentally a couple of years ago a study revealed that parents (read:carriers) of a child with RDEB or JEB (forms of EB that are recessively inherited) get blisters 25% easier than the general population. I always knew I was the carrier, and I always suspected I inherited the recessive gene from my mom because it’s very obvious with the naked eye that I have my dad’s skin. If my dad’s skin is the dominant gene, then my recessive skin gene has to be from my mom. Since my mom has the same problem with new shoes and such, it’s quite evident she is a carrier as well. We tried to go back further, we surmise that since my mom had her mom’s skin, the ‘EB’ gene must come from her dad, my grandpa Martino Lencia, which I find intriguing since his father (my great-grandfather’s) branch of the family tree is the most obscure of them all, and the one I am going to investigate further when I go to Italy this summer. The Lencia last name is extremely rare, I’ve only found a handful of people living today with that last name, so it’s all very bizarre.

Oh well, it matters little where the EB comes from, as it comes from his dad as well, what’s important is that a treatment is found SOON. Children are dying all the time, and the damage of 15 years of EB has taken a huge toll on Nicky.

Please keep praying for every child suffering from EB and that the Doctors and Scientists will find a cure to end this horrible disorder.

Hugs & Blessings,

Silvia

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