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!

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?

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

"God is in the rain."

If you do an internet search for this quote (made popular by the movie V for Vendetta starring Natalie Portman and Hugo Weaving) one of the first things to pop up is that it means "challenge perfects the human soul."

I'm a true Aquarius. When it rains, if I can't make it outside to stand in it, I throw open every window, sit by the sill and watch it pour.

Today it is storming. In more ways than one. If challenge perfects the human soul the way a stone is shaped in a river or a canyon erroded by rain, then my soul should be damn close to perfection.

In honor of Memorial Day, here in the US, my husband had the day off from work. I got to sleep in and take a shower at 11am. My husband was going to nap while Caiden did, but Caiden had other plans. Neither one have napped yet today.

On days that hubby is home, I get Caiden out of his room and take him to sit on our bed to say hi to daddy after his nap. For whatever reason, Caiden didn't want to today and he was thrown into a meltdown.

His most severe one to date.

It lasted about 20 minutes, short as far as meltdowns go, but it was severe. Screaming, thrashing, choking for air, biting, and hitting. The whole shebang. I didn't think it would ever end. It was also the first meltdown of this magnitude that my husband had seen.

He's a great father, he and Caiden love each other to pieces and have an amazing bond. However, he struggles to grasp the difference between terrible twos behavior and autistic behavior, and it frustrates him. For this reason, along with being a stay at home mom, I manage the tantrums, and the meltdowns, and pretty much anything that could induce stress. And I'm happy to do so. I don't always know how to help Caiden, but I have more success than anyone else. He needs me to be there in those moments.

I guess my ability to get through stressors unflustered, is why I started graying just before I hit my 20s, when my grandmother didn't until her 60s.

It stopped raining about a half hour ago and while Caiden is still edgy, I feel calm. If only it could rain on each of his bad days, it would be easier to shake the exhaustion that follows them. There's something calming about watching how the raindrops fall.

We're currently watching his favorite Bubble Guppies dvd. Hell, we might watch the whole thing. Twice, if it means him staying calm. This will be our challenge today. And possibly tomorrow, and each day for the rest of our lives.

Caiden is shaping who we are. He is holding our hearts and he has the power to stomp on them, or hold them tight against his own. He will show us our breaking points, push us past them and force us to build new ones. He will be the rain that threatens to drown us, and the life jacket that saves us.

And when my time comes, if after all this, I don't have a perfect soul, I'm demanding a refund.

Unspoken Reality: Friday Recap

This week has been a particularly long week for Mr. Caiden, with Wednesday making him 23 months old. One more month and we can officially say goodbye to adjusted age (the age he should be if he were born term/on his due date). He will officially be a former preemie then, though still not caught up by the magical and highly anticipated two years.

Last weekend, he got a surprise visit from his Nana and two uncles. He had a great time while they were over, but as soon as they left it was meltdown central.. which continued throughout the beginning of the week. Transitioning for him, is a big deal. Its more than just him not wanting to do something, he struggles with changing his focus from one thing to another, regardless of what it is. Even diaper changes are hard because it means he has to stop what he's doing.

Usually, we just restrain and wait out the screaming. Its quicker than trying (and always failing) to calm him down, but sometimes its more than just screaming.

Caiden is aggressive.. and really thats just a nice way of saying he's prone to violent tendencies. You wouldn't know it if you saw him outside of the house though. Usually he relies on screaming when we're out, and keeps the violence for at home. One thing I'm thankful for in our hectic life.

Tuesday, one of his meltdowns got to the point where he actually managed to hurt me and drew blood. He had never gotten to that point before. And frankly, it scared me. My baby isn't even two years old yet, and he's able to do THAT to me? What are we going to have to deal with in the future? Is he going to break our bones, require us to get stitches? How much worse is his rage going to get?

I don't have the answers, I'm not sure I could face them if I did. All I know is that we need to get control over it as soon as possible.

Which is, of course, easier said than done.

Especially when we haven't been able to find a form of discipline that works for him. Until we do, I'm afraid the slapping, kicking, throwing and biting are going to continue. And we just have to cope with it. I feel bad that he can't just say whats on his mind. I'm sure if he could talk (he has fewer than 10 words), a lot of his aggression would subside.

Instead, we have to interpret babbling and whining for what he wants. Unfortunately for all of us, we're usually wrong. Its like planning to go to France on vacation, only to find out that your plane has landed in Japan. All the French phrases you learned, are useless.

Usually he just resorts to screaming.

At the end of the day, after a two hour battle to get him to take just a few bites of his dinner (most of which is thrown on the floor), we're all spent.

Today is Friday, and we're about an hour and a half away from nap time.  My usual perfect sleeper woke up early this morning and has been throwing things everywhere. Momma bear hasn't had more than a minute to sit down and I'm currently writing this while I cook us breakfast. But thats okay, because soon he'll get to watch Bubble Guppies, and for most of it will sit still for whats likely to be the only time today, just like everyday before.

And that's okay too, because it makes him happy. It keeps him calm with the rest of the world tuned out... and for 25 minutes, he doesn't have to scream. He doesnt have to hit. He doesn't have to bang his head. He doesn't have to throw anything. He doesn't have to focus on anything other than dancing mermaids and his cup of milk.

And wouldn't you know, for an angry toddler, and an already exhausted mommy, thats about as good as it gets.