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!

Huge April Update!

As Autism Awareness month winds down, I figured now would be a good time to give a little update on Caiden, especially since we have some BIG news to share!

Caiden has made leaps and bounds in his development lately. He has almost met all of his short term goals for OT, such as drawing a circle and straight-ish lines. He has also been showing more signs of sensory seeking instead of avoiding. In PT, he has finally mastered catching a ball, and jumping, managing to get both feet clear off the floor! He is very proud of himself for this, as he should be ;) However, it is ST that he has shown the most progress in recently. Caiden now has more than FIFTY - yes, fifty! - words he can say!! These include "mommy" and "daddy" which he had not said in roughly a year!

While we are extremely excited about how much he's improved lately, we are still keeping a close eye on him. He is prone to regressions, so we're hoping that a lot of his new skills stick around for a while this time.

The developmental pedi gave me some paperwork on IEPs so we can get him enrolled in school this fall. He's going to need a one-on-one aide and still isn't potty trained, so we've got a lot of work ahead of us. I personally think he's going to have a rough few days once he first starts trying to get used to it, but I think after that, he's going to love being in school.

Because Caiden has done so well lately and is showing so much progress, the doctor decided that he doesn't need to go back to see her for a whole entire YEAR!! She still wants us to keep her updated and to go in if something comes up, but as long as he continues to do well, we only have to see her once a year.

Today he weighed in at roughly 45lbs (97th percentile) and is 3'7" (99th percentile) and........ he let them take his blood pressure!! Caiden has only tolerated having it taken ONE other time, and today he didn't really care, just got kinda wiggly. It was a perfect 100/60 too!

Our next big date is in just two weeks when we go back to neurogenetics and meet the new neurologist to go over his last MRI. Hopefully we'll continue to get good news!

Complicating the Typical

Yesterday we spent most of the day in the doctor's office with Caiden. Something that's not out of the ordinary for us, but why we were was a unique occurrence. Aside from his diagnoses, he is usually the picture of perfect health, but Caiden had woken up in the morning not acting like himself. We tried going to therapy, but he just cried. He wouldn't eat or drink anything, and just wanted to lay on the floor.

He couldn't tell us what was wrong, and not wanting to jump to conclusions, we called the doctor to see if she wanted to check him out.

While we waited for a call back, I attempted to take his temperature. Easier said than done. He fights it and moves so much its hard to get an accurate reading. Over the next hour and a half, I took it three times, and each time it was significantly higher than the last.

I called again and got an appointment for later that afternoon.

When we got in to see her, there wasn't anything obviously wrong with him other than the fever. On a whim she did a test for strep throat.

It came back positive.

A typical childhood illness made more complicated by the fact that not only can he not tell us what's wrong or where it hurts, but he has an extreme aversion to oral medication. Giving it to him means holding him down and forcing him to swallow while screaming. There is the very real risk he could inhale it and asphyxiate or choke. The typical treatment of strep of course being a week long course of antibiotics.

We had two options. Get a prescription for the normal treatment and force it down his throat everyday for a week, or just one injection of a more powerful, long acting antibiotic.

Unfortunately, we had to go with the injection. A single, very painful injection of a thick antibiotic formula into his thigh.

His screams were heartbreaking, and they continued well after they'd administered the injection until he finally fell asleep.

Today, he is thankfully feeling better. His fever is down and he's taking tentative bites of food. However, his leg is hurting him. He's refusing to put any weight on it and shakes when he tries. He's hardly left the couch since he woke up this morning, when he does, he cries.

It was a simple decision to make, and what was best for him in the long run, but I still feel bad that he's now hurting because of it.

Even simple everyday things are complicated. For a typical child, they'd be able to tell you where it hurts. You'd be able to look in their mouth without needing three other people. You'd get the regular medicine and not even realize that there are alternatives that even the doctor has to look up, and then get from another office entirely because they don't carry it. You surely wouldn't know their names or doses.

We do.

We have to do everything a little different. Sometimes that means therapy instead of play dates. Sometimes that means sign language and babbling. This time, it meant a painful leg for a day, instead of a week of fighting to get him to take medicine.

Tomorrow will be better.

A week and he'll be back at therapy.

A month from now and it'll just be another bump on the road.

He won't remember any of it, and for once, that's just how it should be.

The Importance of Routine

Its 9:30am. Caiden is eating breakfast right now. Scrambled eggs, toast and a banana - his favorite. Winnie the Pooh is on, and he's laughing at all his regular spots. Eeyore bounching down a hill is as hilarious today as it was yesterday, and the day before. The poor donkey's melancholy is something I'm all too familiar with.

Just a half hour ago, I was sobbing in the kitchen over a pan of eggs, and not because I'd realized I had forgotten to add cheese to make it just the way he likes it.

Ten minutes before that, we were at therapy.

Leaving.

Caiden has gone months without a serious meltdown. Even through the holidays and the major schedule changes, he didn't have a single one. Sure, there are plenty of harmless tantrums, but its been a while since he had one of his bad ones. The hour long (plus) ones with blood curdling screams, gagging, hitting... the whole nine yards.

He had one this morning. At therapy. After being there barely five minutes. His regular physical therapist wasn't going to be there today, so we were asked to come in a little early so that the other PT could see him and avoid a scheduling conflict. Sure, no big deal.

But I messed up. I was under the impression that he would still be having speech and OT first, and then see the other PT. They turned it around. PT was scheduled first this morning, and with a different person. Big, BIG mistake. He cannot do PT first.

Caiden, understandably, lost it. For twenty minutes.

And then mommy did too.

We've been dealing with these meltdowns for almost a year. They started shortly after he lost his speech. Almost a year, and I still have no idea how to help my son. All I can do is try to make sure he doesn't hurt himself and remind him to breathe, which of course he doesn't understand.

Its horrible. Heart breaking. Especially when surrounded by people who want to and are trying to help, and even they give up and just watch. I would rather deal with HELLP all over again than have to watch him struggle, unable to calm him.

Its days like these that I hate autism. Mostly I hate it for taking away his voice, for instilling a twisted sort of fear in me I never knew before, but today I hate it for taking away the spontaneity in life. He will never get bored of his routine, he will never long for change, he may never find joy in adventure. I often wonder if we'll be able to take him to a park this summer. Will the change in routine be too much for him? Will he be able to adapt to daycare or preschool when he goes?

He was fine as soon as he was buckled in the car, his routine back in order. And so we sit here doing the usual, him eating breakfast like this morning's meltdown didn't happen, and me writing and wondering, and trying to hold myself together.

"Do you want to take him home? We can try again tomorrow."

Tomorrow we'll be back at therapy. His regular PT will be there, and he'll see her after he sees his OT and speech therapist. It'll be just like any other day. He might get mad, but we'll make it through the whole appointment. He'll go down the stairs on his own, and we'll clap for him. He'll use his signs, and we'll encourage him. He and his therapists will forget about this morning.

I'll try too, but I'll remember it. I'll remember to double check the next time I schedule something. I'll remember when one of our doctors asks how he's been doing. I'll remember when I still won't know how to help him when he has another.

Another Specialist

Monday we drove four hours round trip to see a diagnostician (prerequisite to seeing a geneticist as they don't have enough appointment slots). What I expected to be an hour long appointment turned into four!

The doctor we saw was AWESOME. She took a very, very extensive history and even knew what HELLP was! Considering its a rather rare condition (and not part of her specialty), her knowledge of it speaks volumes. We got a LOT of information, so bear with me here!

She started with a typical physical, he's 34.5lbs! And still has a big head at 53cm, up 1cm from June. Then had him walk around the room. He has wobbly knees. Basically, he doesn't have the balance or the strength to hold himself up which causes him to fall a lot. He compensates by walking funny. He walks with his feet pointed out and his knees slightly inward. It needs to be corrected at some point, but if he hadn't altered his gait, he wouldn't be walking at all.

There is some concern about his heart. Caiden's heart rate and blood pressure were high and with a family history of hypertension, she wants our regular pedi to monitor it. Also, one side of his chest is slightly sunken in. She doesn't know of its muscle related or skeletal, so Caiden needs an EKG, heart echo and chest x-ray.

She noted along with his huge head, he has a very prominent upper lip, and droopy eyes (made more noticeable by the fact that he was exhausted yesterday), and thinks we may be on the right track with suspecting fragile x.

Good news is, while we didn't get to meet with the geneticist, she was able to consult with him/her while we were in the office and get his/her recommendations on additional tests. The diagnostician was able to provide enough medical evidence to prove the necessity of the tests and insurance approved it! We were able to have the labs drawn while we were there which should cut down our wait time.

Aside from the fragile x and microarray labs, Caiden had four others drawn:
• repeat CPK to compare to the previous two
• hypotonia panel to check for conditions such as muscular dystrophy and spinal muscular atrophy and other conditions that can cause hypotonia
• PTEN panel to check for very specific conditions related to the PTEN gene. They can be responsible for various cancers, tumors, heart and muscular conditions
• An aldolase test, very similar to CPK, measures an enzyme also related to muscles. If its high it'll let us know to check for muscle damage, heart damage, cancers like leukemia and pancreatic, muscular dystrophy, and rare genetic conditions related to the skeletal muscles

Our neuro has decided we only need to go back if the CPK and/or aldolase tests come back high (we'll need to discuss a muscle biopsy because of the added heart concern), or the genetics come back with something. If we see Caiden regress again he wants us back in immediately and we'll discuss his brain issue again, but we shouldn't need to see him regularly anymore.

Our pediatrician is sending us straight to a cardiologist to do the tests concerning his heart, so we're adding another specialist there.

So, if you followed all that, here's a list of Caiden's diagnoses to date:

1- Autism (ICD-299.00)
2- Hypotonia/ataxia (ICD-781.3)
3- MTHFR (ICD-270.4)
4- Tachycardia (ICD-785.0)
5- Cerebral Microcephaly/Global Cerebral Atrophy (ICD-742.1)
6- Developmental Delay (ICD-783.4)
7- Deformity of Chest and Rib (ICD-783.3)
8- Congenital Abnormalities of skull and Face Bones/Macrocephaly [his giant head] (ICD-756.0)
9- Congenital Abnormalities of Face and Neck [facial features] (ICD-744.89)

Fuck You Holland; The Diagnostic Process

If you follow our Facebook page, and if you're reading this, you probably do, then you likely have an idea of where I'm going with this post just based off the title. Yes, I'm tackling the hellish process that starts with the initial concern to the final diagnosis. We haven't gotten to the end of the journey yet, but I have a pretty good idea of where its headed.

There's a poem or short story entitled "Welcome to Holland" that keeps making its way back to me. If you've had a preemie or something unexpected happen, you've likely read it too. It compares an unexpected event to boarding a plane to a vacation in one country, only to end up in Holland instead. Sure its not where you thought you were going, but you can enjoy Holland anyways.

I hate that story.

The important thing its missing is that while the destinations are totally different (what you expected and what you ended up with) and can be great, the author fails to mention that the trip to Holland is full of turbulence and the plane is lacking seat belts and sick bags.

I like to think the ridiculously lengthy process is like a car ride instead- mainly because planes don't really fit the metaphor I'm going for here. But its no ordinary car ride. Its like getting in and knowing you're going to be in an accident (because no one wants to invision a plane crash). You don't know when it'll happen, where it'll happen, or how badly you and your fellow passengers will be injured, you just know its going to end badly.

When we first strarted noticing something was a little off with Caiden, we prepared. We went over all the maps we could lay our hands on, buckled our seat belts and obeyed the speed limits. And yet, we still managed to hit all the potholes, miss turns, and sit through green lights. When we finally got to the diagnosis, we crashed into it and walked away with a case of whiplash.

After Monday's appointment with the diagnostician (read the full update here), I feel like we're back in that car, barreling down the road with our eyes closed bumping into everything in our path. Were going to crash into the test results, and this time we might not walk away from it.

I'm quite honestly petrified of what his labs will tell us. I'm also scared they won't be able to tell us anything and we'll be back to where we started only having to try again. We can handle autism. I don't know if we can handle some of the other things they're testing for.

I thought that getting Caiden's ASD diagnosis would be the worst part of this whole process (remember its taken is a year to get to this point), but while the diagnosis part definitely sucks - as important as having answers are, its definitely the waiting. By the time we got his official diagnosis, we already knew that's what it was and were actively addressing the issue. The wait had given us enough time to confirm our own ideas and get the ball rolling on managing it.

This time, we don't have that luxury. We're left with no leads, no good ideas, nothing to fill up our spare time and no direction to head in. The stress seeps into your bones and everyday its there reminding you, one of these days, they're going to call, and you're going to crash.

But like an idiot, you keep getting back into that damn car, because if you don't, you'll never know where the road finally ends and what the diagnosis is. Its not strength that gets you through the day or causes your knuckles to turn white as you grip the wheel, because really, you do what you have to as a parent no matter what. If it were your child, you wouldn't give up either.

What keeps you going is the chance that maybe you won't crash when you stop. Maybe the answers won't be as bad as you fear. Its the hope that maybe it'll be okay and the constant pain in your heart will eventually subside.

Because when it's your kid, you don the armor and go to war, even when you're already broken.

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.