Thursday, October 16, 2014


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?


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 The bad news is that the doctor said what Caden does have, scientifically does not exist (or to quote him "is unpublished").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...


  1. My prayers and strength go out to you and your family, I hope that you get in with the NIH. I understand the frustration on not having something to Google. My daughter had a grand mal seizure when she was 8, she ended up in a coma for 11 days and the doctors have no idea what happened. Since then she has developed two more disorders. Thank you for sharing your story, it gives me strength.

  2. Wow, what a tremendous journey you are on. Hopefully you will find answers and a plan with the new doctor. Praying for your family

  3. My strength and peace to you and your family - it's SO hard to not know what's going on (and we have such an easier not knowing what's going on than you do). I'm so glad you're sharing.

  4. Came across your blog. I'm from NJ, too. :)

    Very sorry to get so much unpredictable news about Caden. But my question is related to his identical twin. How can his twin NOT have the same mutation? And presuming his twin has this mutation, isn't it possible that this mutation is relatively benign - and that Caden's issues are related to his brain atrophy?

  5. I found your blog through the Clayton's. I also have a medically complicated 4 year old son who has 2 COL4AC mutations. Looks like his involve eyes, lungs, and kidneys which aren't our main issues at the moment, but these are also Collagen IV proteins. Interested in what you find out at the NIH.