Seven Months

An open letter to our son's former pediatric neurologist.

Dear Dr. M.,

You probably don't remember us, after all, its been seven months since Caiden's last appointment with you. Seven months since we sat next to you and begged for you to listen to us. Seven months since you dismissed our concerns about absence seizures. Seven months since you threw two opposing, and impossible diagnoses at us. Seven months since you declared our son's atrophied brain didn't require a follow up, and that we'd be better off seeing a geneticist. Seven months that you have failed to return our phone calls.

Like I said, you probably don't remember us, and we won't be back for a follow up, so let me refresh your memory and show you why our story should be important to you.

We came to you after an abnormal brain MRI left our pediatrician (and us) seriously concerned about Caiden. We were just trying to rule out cerebral palsy, what we found was much worse and started us down a diagnostic rabbit hole.

His brain showed atrophy.

Had you taken more than the five minutes you spent skimming over his MRI, you would have seen the real damage, you would have seen the holes. You would have diagnosed him with cerebral palsy and periventricular leukomalacia. You would have saved us from months of heartache and financial strain.

But you didn't.

Instead, by your inaction, for seven months, you let us believe that Caiden's mysterious brain condition had the potential to be terminal after we'd ruled out all other possibilities. We may be young and still somewhat new parents, but even we know why they save those tests for last.

That's where you left us; waiting for the hammer to strike, waiting for a prognosis, and not necessarily a diagnosis. Waiting to find out if the atrophy was progressive, and how much longer we'd have with our son. For seven months, I was scared to put Caiden to bed, afraid he'd have passed in his sleep, afraid each day could be our last.

Trust me, its a terrible way to live.

Last week, however, our pain was finally lifted. We had an appointment with a Neuro-Genetics team who thoroughly examined his MRI and saw clearly what you missed. We're just waiting on a confirmation, and we can add those two diagnoses to his list, while we remove two of yours.

Two completely manageable, non-degenerative conditions. Under normal circumstances, they would have crumbled us, but instead, it was an incredible relief.

I don't know if you have children. I don't know how long you've been a pediatric neurologist. I don't really care. What I do care about though, is that you know that you failed us. In every way a doctor can fail their patient.

Not because you got a diagnosis wrong, but because you didn't care enough to try and get it right. You have to care about the people who come to you for help. If you don't, you leave them in positions like the one you left us. Thankfully, we had others who took our concern seriously, and friends and family to stand by us.

Our story turned out alright. Our son's conditions are not terminal. If they had been, and we trusted your judgement, would you want to live with the guilt that you did nothing? How many others have you failed the way you failed us? Can you live with that number?

Official

Yesterday, we got Caiden's official autism diagnosis (on paper). For a kid who just turned two a few months ago, he now has a pretty lengthy list of issues, and we're still waiting on several things to know if we'll be adding more. To date, he has been diagnosed with:

Autism Spectrum Disorder
Ataxia
Hypotonia
Developmental Delay
Cerebral Microcephaly
Global Cerebral Atrophy
MTHFR

Its taken almost an entire year to get ASD put on the list, and nearly as long for the rest. It's been tremendously exhausting, and we're not even finished yet.

Our appointment yesterday was a follow up from June with the developmental pediatrician. We went over test results, and she wanted to see how therapy has helped, along with discussing our concerns. Top of my list was autism.

I was worried she was going to be resistant to diagnosing him, and I was right.

It wasn't until we were getting ready to leave that she decided to have me fill out a few questionnaires because his behavior "didn't make sense" to her. He "kind of" fit has some behaviors she wasn't sure about, so she didn't want to diagnose him. Big surprise, he scored very low, even among kids like him, in all areas, so she went ahead and finally put it on paper for us.

We discussed medication. Caiden is still a bit young for anything, but if his meltdowns become much worse we were told to consider it. He's large enough (33lbs and 39in) that he would be able to take it if need be. We're hoping to stay away from medications as long as possible, but its reassuring to know we'll have it as an option if it comes down to it.

I admit, though we've known for a while that he's autistic, I teared up a bit when she told me she was finally going to go ahead and diagnose him. On one hand, I'm relieved we were finally taken seriously, hopefully now we'll be able to get him more services and things will get better. But, part of me still hoped we were wrong, that it was just a development issue.

Getting confirmation that your child is disabled is hard. I have a lump in the back of my throat that just won't budge. Things might get better, but this isn't going away, no matter how much therapy he gets. The rest of our lives will be spent fighting for services and worrying about bullies and what's going to happen to him when we can't care for him anymore. We're going to have to be his voice. We have to throw away the future we envisioned him having (again), and try to imagine a new one with autism.

Regardless of whatever additional diagnoses he ends up with, he's still Caiden. He's still the same giggly little boy, and we still love him the same. If anything we'll hug him tighter now, we'll appreciate the little things he does and stand in awe over the progress he makes.

We'll learn to live in the moment and not by the milestones. And with this cutie pie to share them with, that's alright with me.

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.