Neurogenetics Update!

On Tuesday, the 10th, Caiden had an appointment with Neurogenetics to meet the new neurologist (this is our third neuro) and follow up with the geneticist we saw about a year ago now.

Neurology

Dr. A, our previous neuro who we saw in December, was concerned about Caiden's most recent regression and ordered another MRI (which we had done the end of January). He wanted us to bring both to Dr. P, the new neuro for comparison. His most recent MRI showed changes from the first so there was some concern about what it might mean.

Both MRIs are being sent to radiology so that they can be looked over thoroughly before Dr. P formally diagnoses him with anything. We should hear from her by the end of next week, however she was able to look over them briefly and gave us her preliminary findings.

According to her, the problem with Caiden's brain is likely due to an injury at birth, and most likely not a degenerative condition (yay!). Developmental delays, hypotonia, and toe walking are common in preemies, and a brain injury could possibly explain these. It is clear that one side of his brain is more affected than the other as he has always favored his left side and both MRIs support this. His new MRI showed an asymmetry of one of his ventricles that was not present in the first MRI, along with white matter changes.

The way she explained it, is that the scar tissue caused by the birth injury surrounds the ventricles. As Caiden has gotten older, the brain has replaced some of that scar tissue with fluid. This makes the ventricles get bigger and the brain appear to be smaller, even though its only the scar tissue that's affected (this is pretty much an explanation of PVL, what Dr. A. suggested but never formally diagnosed). He also has excess fluid surrounding his brain in the space between his brain and skull. She doesn't believe this is what's making his head so huge, but its not growing significantly between measurements. As long as the fluid remains the same or lessens over time, and his pressure remains normal, we aren't looking at anything radical like surgery to reduce it.

Aside from going over his MRIs, she also did a full exam to check him out and noticed his hypotonia and toe walking immediately. She's encouraging us to continue all of his therapies and to talk to his physical therapist about whether or not he's going to need braces or special shoes to help with the toe walking. One of his hamstrings is tighter than the other and we don't want it to get any worse.

She also believes that while some of Caiden's issues are related to his birth and prematurity, it does not explain away all of his problems. She has recommended we pursue further genetic testing.

Genetics

Our geneticist, Dr. W, actually remembered Caiden even though we'd only seen him once before. We met with him after we saw Dr. P. He agrees and also thinks we should have more testing. We already know Caiden has a duplication on his 10th chromosome, but there's not much known about the specific gene. There are a few cases reported where it could be connected to speech problems, but there's not enough research about it to know if this is true in Caiden's case.

He suggested we do an Autism and Intellectual Disability Panel. It looks at 2,000 genes either known or suspected to be related to Autism and ID's. After this test, if we choose, we can do Whole Exome sequencing with looks at all 20,000 genes. We did decide to do the the Autism and ID Panel, but are waiting on whether or not to do the complete sequencing, so he is sending it to insurance for approval. Once its approved, Caiden will only need a simple blood draw, which he does fairly good with, and then we wait. Results can take several months to receive.

One of the things I love about Dr. W though, beside his amazing bedside manner, is he works closely with the medical research facility who will be looking at Caiden's DNA. He has an amazing track record and will actually be involved in the testing process. Should we find something with this test that is not well documented, we have the added bonus of him being able to research the affected gene(s), and hopefully coming up with an answer either now, or years down the road when more information is available. We're obviously hoping for the sooner the better, but we'll take what we can get.

Caiden is scheduled to go back to the Neurologist in a year unless we have further concerns or if she needs to see him regarding what she finds when looking over the MRIs more closely. We did not get a time frame from the geneticist about how long it would take to get the test approved, but hopefully it will be soon.

Caiden measured in at 3'8" and 46.5lbs!

The Cliff

There's a quote by Ray Bradbury that has cemented itself in my mind. Its one of those things that keeps coming back to you no matter how hard you try to forget it. I think I heard it in high school and I keep stumbling upon it now in my adult life. It goes, "Go to the cliff and jump off; build your wings on the way down." I always thought it was about taking risks and learning as you go, but recent events have made me really think about this idea and what it actually means.

Last month was a good month with Caiden. We have learned how to better prevent meltdowns and how to interpret what it is he's trying to communicate.  As a result, our home has been a much calmer place. It came with a few obstacles though.

Blood work. The developmental pediatrician we saw the end of June ordered a ton of blood work. Things like lead leavels and thyroid function only grazed the surface. We had been putting off getting him tested for the clotting disorder I have, because we were quite frankly afraid of the battle that would take place. Now with these new labs ordered we had no choice.

To our surprise, he actually did well. It only took four people to hold him down, and though he screamed bloody murder the entire time, he was calm as soon as he was allowed to get up. He even got a prize after!

We have most of the results back, and unsurprisingly so far most have been normal. We're still waiting on his chromosomal microarray (looking for deletions or duplications on each of his chromosomes) and fragile x (a genetic abnormality on the X chromosome). Aside from the clotting disorder (which he does have), the one blood test that was abnormal was something called CPK.

CPK stands for creatine phosphokinase. Its an enzyme that your body produces when the brain, heart or muscles are damaged. His levels were slightly elevated but for no clear reason. We were told not to worry about it, it could be nothing.

He had appointments to get his eyes and hearing tested. Both went well, his eye sight is perfect and his ears work just fine!

Then, on July 28th, we had possibly the most important appointment to date. His MRI. Because of his age, Caiden had to be sedated. Totally routine, but we were warned he may wake up a little... grumpy. And grumpy he was. He left quite the impression on the staff when even the morphine they gave him didn't calm him down after he woke up. Eventually he did calm down and we were able to go home, and wait for the results which were supposed to be available later that day.

We waited.

And waited.

And called the doctor.

And waited some more.

Then we got the news on Friday August 1st (for some reason I cant get around August being a bad month).

Global Cerebral Atrophy.

His entire brain is significantly smaller than it's supposed to be and isn't expected to catch up completely. It has either stopped/slowed in growth or shrank. And right now, they have no idea what caused it.

The brain naturally shrinks with age, but this kind of damage is something thats typically seen in people with alzheimers, traumatic brain injury or serious illnesses like MS, none of which he's had.

It puts him at risk for seizures, cerebral palsy, dementia, and aphasia (a condition that hinders you from being able to communicate)- something we're already seeing.

Prognosis varies depending on the cause, type and location of damage, but its a degenerative condition by nature. If his brain has stopped growing, he will likely be stuck at the development he's at now (a one year old). If its growing slowly, we need to get him as far developmentally as we can before his brain does stop growing. If its shrinking... he will continue to regress and the condition would be terminal.

He will need additional MRIs throughout the his life to monitor the growth/shrinkage and to determine what exactly is going on.

Its seemingly rare in children, especially since his entire brain is affected and not just one part, and he has no history of illness or injury. Hopefully, the remainder of the blood work will let us know if there's an underlying condition but for now... all we can do is push him in therapy and hope that his brain doesn't shrink but continues to grow.

"Go to the cliff and jump off..."

I feel like I've been pushed off that cliff, the fall totally out of my control. I'm still a bit in shock. It seems a bit unfair, after all we went through when he was first born, this information was devastating. We started this crazy journey expecting to hear that Caiden has autism. Instead, we found out he has a potentially terminal brain condition. Even if its not terminal for him, he won't be "normal" like you and I. He is considered disabled and as having special needs. He has unexplained brain damage. Hopefully, with enough therapy, he'll be able to lead a relatively normal life though.

"...build your wings on the way down."

No matter what the future holds for him, he will always be my baby. I don't love him any different than I did before we got the news, and that wont change as we figure out more of whats happening in his body. We will take what comes and learn from it, grow from it, and encourage others to do the same.

Caiden has always had the ability to put a smile on the faces of the people who meet him. He is a happy little boy with a beautifully contagious laugh. He is in essence no different from other two year old boys, he plays with cars, balls and sticks and has an uncanny ability to accumulate dirt. His brain is just a little different, a bit more baby-like than it is toddler.

He deserves love, understanding, and complete acceptance of the person he is and will become.

The Hand You're Dealt

My husband is notorious for his amazing memory. He swears he can remember being as young as a toddler. While I have my doubts on that, he has proven that his memory is exceptional, with the ability to recall specific days down to what he was wearing. I, on the other hand, am not so lucky. I can hardly remember what I cooked for dinner last night, never mind specifics of my childhood.

I can recall a handful of nonspecific bits for each year I was in school. For example, in the 4th grade, I studied the Osprey for my final project. I remember it eats fish, and that I only picked it because someone took my other choices. What those choices were I have no idea.

I remember helping my best friend write a letter to her new teacher that same year. Her mom had died a few months earlier and she was moving to live with her dad in another state.

I remember in 8th grade, that I had my heart broken for the first time. I remember how my sister and her friends came to my rescue, in a way I didn't know I'd regret in five years.

I don't remember my first day of high school, but I remember getting lost in it a few days before, on an adventure with my closest friend, hoping to get an upper hand over the other freshmen.

I went to one of the largest schools in my home state. My graduating class had something like a thousand students, give or take. My sister was only two grades ahead of me, so I had the benefit of being escorted to classes by various upper classmen my first year. It was also because of my sister that I took a Sociology course my sophomore year, the teacher being one of her favorites.

He wasn't one of mine. Sociology just wasnt for me. It was however, for the brightest kid in class. I couldn't tell you his name to save my life, as I never talked to him. I do remember that he was a lefty, had brown curly hair, and was a grade or two ahead of me. I was insanely jealous and intrigued by his perfect grade, and his seemingly lack of effort to attain it. He just knew everything.

Now, my sister usually drove me home. She wasn't lucky enough to win a spot in the senior parking lot, so we walked to the track parking lot, across the street and down the road. One day, after my last period sociology class, I was surprised to see my mom waiting for me instead. My sister had gone home early and I didn't know to take the bus.

As we were pulling out of the parking lot, the boy in my sociology class was walking to his car. One of the strongest memories I have of my entire life, is what my mom said in regards to him that day.

"They let him drive?!" She had said as if she was tempted to call the police and report him.

See this boy, while shy in class and brilliant (honestly he was probably valedictorian of his class), had a limp. A very noticible and perhaps in some areas of his life, disabling limp. It was as if his knee wouldn't bend, and his leg was half an inch shorter than the other.

"They let him drive?!"

I'm ashamed to say that I don't remember if I ignored her, scoffed with her, or defended him, but those four little words would forever be ingrained in my mind.

I would briefly forget about them, but they would always come back. I suspect that if my mother had known how bad her health would get in the coming years, and how bad her limp would be, she probably would have kept her mouth shut at the boy I secretly admired, who didn't let his disability stop him from being like everyone else.

When Caiden was about a year old, and I suspected his delays to be caused by cerebral palsy, I found my thoughts back on that day. It occured to me that, I didn't know why that boy had that limp. I didn't know if maybe he too had been born early and that disability was a result of it. I found myself wondering what knowledge I could have gained had I befriended him. Would his friendship have prepared me for the drastic turn my life would take?

I was petrified that as Caiden grew my mother would scoff at him much the same way she did that day. I knew if that was my mother's reaction to that boy, certainly other parent's and their children, my classmates, scoffed at him too. Was that to be my son's fate as well? To receive disgusting stares, dirty remarks and constant ridicule?

I was quite honestly relieved when his doctor said it certainly wasn't cerebral palsy. And for a while, I fogot about that day.

Then after a lengthy conversation with my mother in law, it came back. Maybe it wasn't cerebral palsy, maybe it was autism. A disability more widely known and understood, and yet scoffed at just as much as a physical one such as a limp.

I worry that instead of being like the brilliant boy I hadn't really known, would he be one of those kids who everyone flocked too and was kind to, yet who would turn their backs and make cruel jokes about. I worry that even without the physical signs of his disability, he will be scoffed at behind his back, that he will be thought less of because of the disability label. That he will be called things like; different, broken, undesirable, abnormal, strange, weird. Will he even comprehend those things?

To the boy in my high school sociology class; I'm sorry for what my mother said, and for what others have likely said. Also, for not openly defending you. I'm sure you're in college now, or doing something as brilliant as you are. I want to let you know that even though we never spoke, and I can't recall your name, you made an impact on my life. You showed me that even with a disability, a person can be great and offer something truly unique to those around them. While I'm sure my mother in her ignorance, would stand by her comment, I applaud you for overcoming those barriers and showing the world that you don't have to accept the hand you're dealt.

Whether my son will grow up to understand any of this, is still a future that is hidden from me. If he is one of those people who gets scoffed at, I will be the first and the loudest voice to defend him. And if he grows up a "normal" kid, I hope he will lend his voice to others. That he will understand and appreciate that being a little different; walking a little skewed, talking a little bit slower, or clapping a little fast, isn't a bad thing. Its what defines us from everyone else and makes us the individuals that we are.