LOVING THE PERFECT STORM...

Two years ago today Superstorm Sandy shattered the east coast. Lives were lost, homes destroyed and the once beautiful Jersey Shore, where we live, now looked like a impoverished third world country.

I remember the day very well. I was at the Children's Hospital of Philadelphia with Caden. He had just had surgery to "tie off" the upper part of his stomach to prevent him from refluxing and vomiting. As I lay in his bed holding him tight, all I could think about was what was happening a hundred miles away at home with the rest of my family. I maintained contact with my husband for as long as possible but eventually the phones went dead.

It was a very helpless feeling. I remember, at one point, talking to my husband begging him not to take Emily and Ethan out of our house. He was worried a tree was going to fall on the house and decided it would be safer to bring the kids to his parents who lived on the water. Not the most logical decision, but in the end everyone was okay and I understood his need to be surrounded by family as I so desperately wanted to be surrounded by mine.

We were lucky. The storm left us without power for over two weeks but we had no damage to our home. Caden made it home two days later and although we had been displaced, I was forever grateful to be together as a family again. 

Superstorm Sandy changed the face of the Jersey Shore forever. There are still people who are not back in their homes. People are still waiting for their government aide. Some continue to grieve the loss of loved ones. Although the storm has passed, many lives were forever changed.

A Different Kind Of Storm:

I would never compare Caden's life to Superstorm Sandy, but remembering that day has made me reflect on our journey over the past four years. Caden is our Perfect Storm. He is the most amazing person I have ever known; a perfect little boy who has forever changed my life. However, everyday is like waiting to see what the "storm" will do next.

For Caden, the storm will never end. We may sit in the eye of the storm for a while, but we know the winds will pick up again and the flood waters will eventually rise.

Today, we are enjoying the "eye". The winds are calm; Caden is "healthy". We are getting ready for Halloween and preparing to enjoy the many upcoming holidays with family and loved ones. I love the "eye" of our storm. It is so peaceful and tranquil. The skies seem brighter, the air fresher and the smells sweeter.

But no matter how much I enjoy the "eye", I am always anticipating the storm to commence again. Why? Because that is what happens when you love a little boy like Caden. Today may be good, but tomorrow is a whole other story. It can happen like that; so quick you forget the moment things went bad. Now I know this can happen in anyone's life but most don't go through each day waiting for it. I do.

I realized yesterday I am not alone. I was talking to a Mom at my daughter's dance class who has a son with Cystic Fibrosis. She, too, is waiting for the flood waters to rise. He has been "healthy" for a while and as much as she is enjoying his stable health, she is waiting for the storm to rage again.

Caden has not been  hospitalized since April and as happy as I am, I cautiously wait for the next tidal wave to hit. Especially this time of year when he is at a higher risk for respiratory infection and illness emanates every where.

Now this is not to say I have my bag packed and am ready to go. I refuse to live that way. But I do have to remind myself to be diligent and cautious. As much as I want to make Caden a part of everything, I have to remember he has a weak immune system and his body can not handle what a healthy child's can. Pros and cons of life's experiences have to weighed. He can not live his life in a bubble separated from the joys of childhood, but we must consider all possible consequences.

Caden is my PERFECT STORM. He is the most perfect person I have or will ever know. But when the storm hits, it can cause more damage than what can be repaired. Each hospital stay weakens his body, mind and spirit. As it does for all of us.

I know the storm will resurface sooner or later, but in the meantime, I will enjoy the "eye" with all it's beauty, simplicity and hope.

WHEN THE LIGHTS GO OUT...

Since I began sharing Caden's journey with the world, I have been labeled a fighter, Supermom, Dr. Mom, a "special" Mom and an amazing Mom. Now as much as I would like to take credit for being all of these things, the simple truth is...I am really not.

Sure I put up my fists, throw punches and advocate like hell to get Caden the best care possible. I spend hours every day researching and reaching out to those I think may be able to help him. I have given up almost everything I used to do for myself for the sake of my children (don't all good parents do that???). I have argued with doctors, insurance companies, pharmacies, therapists and nurses. I have been up all night holding my son's head up as he's vomited. I have spent holidays in the hospital and have ridden in more ambulances and medical helicopters than most.

None of this makes me Supermom. It makes me tired, frustrated, discouraged, lonely and confused. I do these things because I HAVE to, not because I want to. I would much rather be setting up play dates, taking vacations and doing all those things I see other Mom's doing. 

What you see and what you read are who I want to be but not who I usually am. Yes...I try to stay positive, inspiring and upbeat. But in the end, when the lights go out, I am often broken and scared. 

Don't get me wrong, I love my life. I remind myself every day of the woman who struggled with infertility for ten years. I remember the pain of ever wondering if I would have children of my own. That dream came true. Sure, it was not exactly as I had planned, but I have my family and as beat up and broken as we all are...we are beautiful.

But there are times when I am too tired to fight the fight and just want to give up. I know I can't, but even if I could take just a little break for a while, it would be a nice relief. 

I am merely a shadow of who I once was and although I never want to be that person again, I sometimes miss her. She was a dreamer; a visionary if you will. The woman I am today can not see past tomorrow because Caden does not allow it. I have embraced the living in the now and am less disappointed because of it. I can not imagine what the future will hold, but I do miss dreaming sometimes.

I am frustrated. I am frustrated with waiting for the miracle to happen and am beginning to think it never will. This does not mean I am giving up, but simply learning to accept things as they are. It is sometimes easier to expect very little and be pleasantly surprised than to set high expectations and be disappointed. I was told Caden's cerebral palsy was mild to moderate and that he should be walking by age four. Caden turned four in August and can not roll over, let alone walk. However, when he learned to scratch behind his ear, I was super excited (and now have to keep his nails very short).

I am sad. I don't cry that much and sometimes wonder if I actually have run out of tears like my Mom said I would because I cried over everything as a kid. Or maybe I am just too tired to cry. There are some nights, though, where I just can't keep the tears from rolling down my cheek and hitting my pillow. As much as I know Caden is happy, I will always want so much more for him. 

I am jealous. Yes...I will say it...life isn't fair. I get jealous of the family with the decals on the back of their mini vans. You know the ones...proud of my honor student, soccer mom, the family of four wearing Mickey ears with the dog and cat (who for some reason are also wearing Mickey ears). Now I know that their lives aren't perfect and one of my creeds is to never judge because I do not know what is really going on in someone else's life, but for some reason I still sometimes get jealous. 

I am angry. I am not even sure at who? Many times I am angry with doctors, nurses, insurance companies, pharmacies and therapists, but usually I am angry at myself. There is a guilt in that I could not keep my babies inside me longer; that I was so miserable by the end of my pregnancy that a part of me wanted them out. Why couldn't I just hold onto them inside me a few more weeks? Would that have changed everything for my son? I remember I made a little poster that I hung across from my hospital bed when I was on hospital bed rest. It simply said "It is better I suffer now, so they don't suffer later". I read this all day every day. My suffering (I had a very difficult pregnancy) ended, but for Caden he will struggle (I will not say suffer) every day of his life.

I am tired. I am tired of not sleeping. Even when Caden does sleep through the night, I don't because I lay there waiting for him to wake up in pain or gagging and retching. I am tired of changing diapers. I am tired of drawing medications, pushing food into my little boys stomach and having puke buckets everywhere (every room in the house, the cars, his stroller, diaper bags). I am tired of the doctors, nurses, insurance companies, pharmacists and therapists. I am tired of checking my phone all day waiting to hear I need to go to the hospital because Caden is not doing well. I am tired of vomit. I am tired of rectal suppositories. I am tired of my house being taken over by equipment and medical supplies. I am tired of trying to find "big boy" gifts that Caden can operate (I think he has them all). I am tired of researching for answers. Yes...I am tired.

So you see, I am NOT Supermom. I am human. Caden, on the other hand, truly is a Superhero. He never complains, feels sorry for himself or wishes for more. He seems perfectly happy and content with the gifts he's been given. He is the selfless one. He is the inspiration. Caden, well deservingly, has won the hearts of so many around the world. He has given my life purpose. He's the fighter, the champion, and simply amazing. I am just the lucky Mom who gets to have him in her life.

KEEP CALM... and CARRY ON...

I am a problem solver; there is an answer to everything; there is always a solution. One of my favorite shows is House because of Dr. House's ability to solve complex medical cases (and in one hour no less). If I had to do it all over again, I would have liked to have been a pediatric diagnostician; a doctor who takes medically complex, complicated children with unusual symptoms and finds a diagnosis. Yes...there is an answer for everything.

Or so I thought...

As I saw Caden's neurologist approach, my heart began to race. What if he tells us the worst? Why does he look so concerned? This can't be good. I made it back to the exam room, sat down and took a deep breath. "Okay Doc...I'm ready. Lay it on me".

So before revealing the "secret" of the genetic Exome Sequencing, Caden's neurologist asked if we had any other concerns. Other concerns? All I have thought about for the past ten days is this test and the phone call where I was told there was a mutation. What else was there?

THE RESULTS:

Apparently the Caden that so many doctors have said they have never seen any child like him before, is like no other child doctors have ever seen. He's not a one in a million child. He may possibly be (along with his brother) a one in the entire world child.

You see, the human body has approximately 24,000 genes which make up who we are. We fall somewhere between a chicken and a grape plant (look it up...a grape plant has more genes than us). So of these 24,000 or so genes, Caden has a mutation on one; the COL6A3 gene. This gene helps make up skeletal muscle and can lead to such things as muscle myopathy or muscular dystrophy, which are both progressive muscle disorders that often lead to a person's inability to walk.

This is what we were expecting to hear when we sat down with the neurologist. We anticipated hearing Caden had either something called Bethlem Myopathy or Ullrich Congenital Muscular Dystrophy. But that is not what we heard.

The good news is that the doctor does not feel Caden has muscular dystrophy based on a muscle biopsy he had in the spring. The bad news is that the doctor said what Caden does have, scientifically does not exist (or to quote him "is unpublished"). This means that there is no documentation of any other person in the world having the type of mutation Caden has.

Of the 24,000 genes, Matt and I have a different mutation on the exact same gene, the COL6A3. What are the odds? Well, according to the neurologist "It is just very bad luck." Caden has a mutated gene with the combination of two different mutations; one from each parent. There is no study on this; no scientific abstract; no known cases in the world.

So where do we go from here? Well, for one, I have nothing to Google. You have no idea how frustrating that is. I Google everything but when I Googled this mutation, nothing came up. I mean, literally, it said there were no matches. No matches in all of Google land. Impossible, but true.

Having a syndrome without a name means we have no idea where this will lead; no idea of Caden (and possibly Ethan's) future. Maybe that is good, but with not knowing we have no idea how to prepare.

The neurologist is trying to get Caden in to see a doctor at the NIH (National Institute of Health) who has studied this Collagen VI gene and has dedicated his life to the treatments of the syndromes associated with it. With much persuasion and a little bit of begging, we are hoping to travel to Maryland to see Dr. Carsten Bonnemann and hopefully gain a better understanding of what is in store for our boys and their future. In the meantime, I am working to get Caden in with the Neuromuscular program at CHOP and getting both Ethan and Emily tested for this mutation.

In other news...

Caden saw G.I. at CHOP and we, once again, discussed the fact that Caden is not growing. We have always looked towards his diet and the vomiting as the cause for his lack of growth, but when you get down to it, Caden has a very nutritionally sound diet. How many four year olds eat kale, spinach, quinoa and sweet potatoes on a daily basis?

The G.I. believes that Caden is not growing because his head isn't growing. The body grows with the growth of the head in order to keep the body proportionate. Caden's head circumference is that of an average ten month old, his height of the average 27 month old and his weight of the average 24 month old (Caden is 50 months old). In the past two years, his head has not grown at all, he has gained two pounds and grown three inches.

Caden Fall 2012

Caden Spring 2014 (same pajama's as above picture)

The question is why isn't his head growing? Now I don't expect his head to be as large as his brother's due to his brain injury and the fact that the "dead" part of his brain won't grow, but his head still should be growing. The neurologist is wondering if it is due to this mutation but assuming Ethan has it too, that seems unlikely being Ethan has a particularly large head.

Notice the difference in the head sizes even though they are identical twins.

Caden Fall 2012

Caden Fall 2014

It was suggested that Caden get a hand x-ray which can show the age of the bones. This test may confirm his bones aren't growing appropriately but will not necessarily explain why. I will be contacting the CHOP Growth Center to see if they would be interested in taking a look at Caden.

So, the mystery continues. Caden has gone from a medical unicorn to a medical swan (syndrome without a name). My medically complex, mystery child only becomes more mysterious. We still have no answers, but now there is nothing to look up; nothing to research. 

However, despite all of this, Caden continues to be the light of my life. His smile is my hope, his eyes my guide. When he holds tight to my finger, he is leading me. When he reaches for me, he is protecting me. In his own special way, he is telling me everything will be okay. 

It has to be...

One Appointment... One Day... One Hour... DESTINY???

It has been a crazy week. A week of answers; one we already knew, one we thought we knew and one that has me scared. What we learn in the next week may bring us closer to understanding why our son is so "unique" but at the same time may determine his destiny.

Thinking back to every test Caden has ever had, I can rarely remember a time we received anything but a "normal" result. Now the parent of any typical, healthy child would be relieved with not finding anything but as the parents of a boy like no other, who is constantly sick and no one knows why...answers can, in some way, bring relief. We are often frustrated with all the poking and prodding our son goes through just to find there is nothing "wrong". In fact, according to his tests (with the exception of his brain MRI), Caden should be a "typical" four year old.

So when I got the call from Caden's neurologist last week with the results of his genetic study, I was expecting to hear the same thing..."The test came back normal". But that is not what I heard. There was, in fact, a genetic mutation that may be why Caden has many of the issues he has. I am not yet ready to go into detail on what we found out. I want to wait until we sit down and thoroughly discuss the results with the neurologist. But we may have an answer.

Click to see a short video on Whole Exome Sequencing

I thought this would bring the relief I was in dire need of; but instead my heart sank. Not only for what may happen with Caden but with Ethan as well. Caden and Ethan are identical twins so with any genetic mutation passed down from us, Ethan has a good chance of having it as well. 

This was the test I so desperately needed to come back "normal" and it didn't. 

So as soon as I got off the phone with the doctor, I jumped on the internet. Now I know that I shouldn't do that, but seriously, any parent would do the same thing. You see when the doctor told me about the mutation I wasn't initially concerned. It seemed to make sense in regards to his symptoms. But when I started to read about what the mutation could cause, I began to cry. It seems to be much worse than I initially thought. 

So here I am anxiously, yet cautiously, waiting for this appointment. The appointment that may determine, not one, but both of my son's fates. I am a mess.

It is hard not to think the worse. It is hard not to lose faith. My mind is spinning in circles trying to make sense of it all; trying to get a grip on things. As much as I need this appointment to be here, I never want it to come. Yes...maybe I will find out it is not so bad; that the internet doesn't know what they are talking about. Or maybe, it will be the worst possible scenario.  At least for now, I can hold on to what little hope I have left. One appointment....... on one day...... within one hour...... DESTINY.

I hope my mind and gut are wrong. I hope I am embarrassed by the outcome. I hope I have to apologize to my readers who may now be worrying right along with me.

PLEASE God...let me be wrong.