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?

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.

Therapy

One of my biggest dreams is to see my son kick a ball; see him pick up a fork and feed himself; see him walk without stumbling or falling; hear him say "I love you" or even his name, or a number... a letter... a color...

Caiden can't do any of those things. He's like a one year old, stuck in a body the size of a three year old. But, he's only two.

I hope that one day he'll resemble whats considered "normal" but I'm not deluded. I very well know he may never do those things. He may never play with other kids, or get out of diapers. He may never get a job, or live on his own. He may never be able to tell me he's hungry, or tired.

If he doesn't, I'm prepared for that. Well... probably not, but I know its a possibility and accepting it now will only help later on. I'm not going to give up on trying to teach him those things though.

Most importantly, I want him to grow up and be happy.

He begins therapy in just over a week, so that one day he might be able to do things other kids do. So he can function without getting overwhelmed and exploding. Unfortunately there was a problem getting him started with speech therapy, so that will take a bit longer. I'll probably see him kick a ball long before he says his first sentence.

But, as a special needs parent, you quickly find out thats perfectly fine. Progress, no matter how small or seemingly insignificant is something to be celebrated.

Right now, I'm not worried about how quickly he'll pick up these new skills. I'm worried if he'll even get the chance to try.

We dont have a way for him to get to a majority of his therapy and various doctors appointments. Our family only has one car, used by my husband to get to work everyday. Unfortunately, he works long hours to provide for us since Caidens needs are such that I'm unable to work.

We need a second car. Solely for Caidens transportation.

Herein lies the problem. We are only in our 20s. We cant finance a car because we have no credit... and we cant build our credit... because we have no credit. We're stuck in that stupid loop.

We started a fundraising page to help us pay for one.

We aren't asking for 20k for a brand new car. We just need something safe and reliable to get Caiden to therapy. The reality is, if we don't find some way to purchase a second car and soon, Caiden may only get a tiny fraction of the therapy he needs because we just wont be able to get him there.

I feel like if it were for a service dog, we'd have gotten at least a little help by now, but we haven't raised a penny. Without this therapy, we wont even know if he'd benefit from a service dog.

It saddens me, that despite everything he's faced and overcome already, he's being held back by this. If my husband worked night shift, or if Caiden were able to be left with a sitter, it would be a different story. However this is what we're dealing with.

We need your help.

Therapy is Caidens ONLY chance of having a normal life. Could you imagine your child starting kindergarten and not being able to speak or feed themselves? Without therapy, that will definitely be Caidens near future.

Even if you can't donate, we are asking that you please share his page and hopefully with enough traffic and people seeing/sharing, we can reach those who can. Every dollar, every penny even, is appreciated and gets Caiden that much closer to therapy.

Gofundme.com/a-car-for-caiden

Happy Birthday!

Caiden turned the big TWO yesterday! To celebrate we went to my mother-in-laws and had a tiny party for him. We originally were going to take him to the zoo but it was too hot. Instead we got him a cute little cake and he got to open presents and play out side. We were nervous how he would do transitioning but he surprised us!

He was afraid of everyone singing happy birthday and wouldn't even touch the cake to take a bite, but in the end I was glad not to have to deal with a sugar rush/crash. After cake and presents we took him outside to play with the water hose. I expected him to freak out, which he did, but once he realized he could splash in the bucket we had pulled out, he had a blast! At the end of the day he was soaked and thoroughly exhausted.

He certainly had no idea what was going on but overall I think he had fun, so it was a good day.

Unfortunately, as fun as his birthday ended up being, it was overshadowed by a sobering reality.

Thursday was Caidens evaluation with the developmental pediatrician. I was nervous that when we got there he would behave differently, like he does in each new environment. And I was right.

Caiden, while he gave the nurse taking his measurements a hard time, he loved the doctor. He was even throwing a ball they had in the room back and forth with her. She explained that he has all the traits to diagnose him with autism, but his eye contact was too good. She wants to see him in another few months to reevaluate him to see if anything changes.

However, though we dont have an official diagnosis yet, we did get a few answers.

Caiden has something called hypotonia. Basically, he has low muscle tone and the muscle he has is weak. This is why he still cant kick a ball, crawls down steps and has trouble feeding himself. The good news is that it can be improved with physical therapy. The bad news is, its likely caused by cerebral palsy.

Cerebral palsy is pretty common among preemies and is caused by trauma to the brain. Most preemies are scanned for brain bleeds shortly after birth due to the trauma the birthing process can due to an underdeveloped baby. Since he was born past the cut off date at our hospital he was never checked for them. He now needs an MRI to confirm or rule it out.

On top of that, he has a severe developmental delay. Though he's now two years old, his development is equal to that of a 12-14 month old. We knew he was behind since he's nonverbal, but just how far behind he is was a huge blow.

Even more surprising was what the doctor believes is responsible for his delay: fragile x syndrome.

Fragile X syndrome is "the most commonly inherited form of mental retardation." Its caused by a mutation on the X chromosome and is seen predominantly in males. Its characterized by problems such as developmental delays, behavioural and socual issues, hand flapping, and hyperactivity. Those with the full mutation tend to have very distinct facial features including a long face, protruding ears, prominent forehead and chin, and a large head.

Caiden has a seriously large head. It measures 52.2cm and is above the 100th percentile for a three year old, never mind a two year old. His ears are set lower than normal, and he has a large forehead. If you google image search fragile x there is a picture of a boy, probably 3-4 years of age, and if you can get past the obvious differences (like age and hair color) Caiden bears a striking resemblance. Caiden could be the poster child of this syndrome and it hasn't even been confirmed yet whether or not he has it.

If the test comes back negative, my husband and I have already agreed to have it run a second time. There's no way, after looking at all the evidence, that he doesn't have it.

Along with genetic testing and the MRI, the doctor ordered a heap of other tests along with physical, occupational and speech therapy. We are waiting on referrals and appointment confirmations, so we should finally have answers soon.

Since we found out about these problems, we have told friends and family, and though most are behind us and will support him no matter what, some are hesitant. We've heard "I'll pray for him" countless times. Its not a matter of religion, but it insinuates that he's broken and needs divine intervention to be "normal". This is one of the most horrible things anyone could ever say.

Caiden was born this way. Even if we could change him so that he was "normal" like everyone else, we wouldn't. Yes we want him to be able to speak to us and play with other kids, but whatever is "wrong" with him makes him who he is. If you were to take away his delay overnight, he wouldn't be Caiden in the morning.

We don't believe that a disability is the end of the world, its the beginning of an entirely new one.