Wednesday, April 19, 2017

A Rant, An Update, and that time I almost lost my mind

I planned on writing an update the night after we got back from the appointment with Tessie's pulmonologist, but I couldn't.  I was too angry (not at her doctor).  It would have been a rant and besides, I didn't have anything to tell you.

So I held off, hoping that the upset would ebb.  

And it did until I called the office again today and got more news, or not-news.

But now I'm getting ahead of myself.

A week and a half ago I picked up Sadie from school early, along with Patch who was finishing up his day of preschool, and loaded them in the car alongside James and Tessie.  Maggie's BCBA had managed to get staff to watch her until 5 that night, but with Paul at his new job I was bringing the other kids with me, because I knew we couldn't be sure we'd be back in time to pick up the other two, even if they stayed in their school's after care program.  

Just before I got out of the car to pick the kids up, my phone rang.  It was Tessie's respiratory therapist asking if he could stop by the house to drop of the supplies I'd asked him for a week and a half earlier.  I suppressed a wave of annoyance.  No, I was on the way to see her pulmonologist at the children's hospital, I explained.  Would our usual Thursday time work?

It might.  But he had a question.  Had I let the monitor go dead?  Once? I said.  I thought it had gone dead once, when we had been driving a lot on a particular day the week before.  The alarm, for the battery, had sounded so I'd turned it off.  It was hard to remember in the rush of going inside and getting the kids out of school and signing Sadie out.

Well, he said.  When I'd taken the machine in (and picked up the supplies I needed, something that was obviously frowned upon) the memory had been blank.  Because, he explained, if it went dead it would erase all the memory.  

That would have been nice to know before now, I thought, with slightly more colorful language flashing through my mind.  I hung up the phone and took a deep breath.

It didn't make sense, I realized once I was off the phone.  I turned it off the moment it alerted me that it was getting low.  It wasn't actually dead.  The low battery alarm had sounded, but I always immediately plugged it in.  And when I took it in the tech told me that it was 60% full, not blank.  

But what could I do?

We drove an hour and a half to the children's hospital, stopping to eat lunch in the car along the way.  Then I unloaded the double stroller, loaded James and Tessie into it, and navigated our way through the garage and up into the hospital.  

I had my list of questions and things I needed to tell the doctor and after the nurse weighed and measured Tessie she asked if it was okay if she brought the kids three IPads loaded with games to play on and I nearly hugged her as I rushed to say yes.  

The doctor came in and asked me if things were going well.  I was momentarily confused.  Not really?  Honestly I wasn't sure.  I explained the problem.  Sometimes I feel like things are going very well.  We'll go a week with no alarms.  And then the next week we'll have two nights where Tessie's machine says she has low oxygen or is having apneas, every five minutes, for hours.  

But of course I wanted to know what the machine said.  We'd made the appointment for two months in the future so that the doctor would have the data she needed to make recommendations.

That's why we were there.  

That's the thing, Tessie's doctor explained.  They only had two weeks of data.  And that looked pretty good.  She only had three instances of low oxygen in those two weeks.  Admittedly three instances is better than 130 in one night, but also still makes me feel uneasy.

Any instances make me uneasy.

But we didn't have anything else to go on.

The other month and a half of data had not been transmitted.  

That doesn't make sense,  I said.  The respiratory therapist has come out to our house two or three times and I even took the machine in once when it said it was getting full.  I told her that and related what the therapist had said about the last week being erased.

The doctor disappeared and came back after talking to one of the clinic's respiratory therapists.  She said that their therapist said that the machines didn't work that way.  And that they'd put in an order (again) to get the information sent.  

She promised to call me personally when she got it, and we made the hour and a half drive home to pick up Maggie, before rushing to Sadie's ballet class.

On the way I called Paul and asked him to call me when he had a break.  He did and then he called Care Linc, the medical equipment company that was supposed to send in the information.  

First they told him that the information had been sent.  He asked for dates.  

Well, today was one date. 
Not today. Before.  He explained what the problem was.  
There were other dates, they said.  
Could he have them?
Well they didn't really have them.  Someone else did.  Someone who was there.  Oh look!  She left!  Someone was going to send the information last week.  But they were out of the office.  And the week before they almost sent it. But something happened.
Why yes, the person who had left would call him back as soon as possible.

Except she didn't.  The respiratory therapist did.  He called my husband to explain how it was all my fault.  There was no data.  Because I'd let the machine go dead.  It was all erased.  


Paul texted me the next morning and asked me to send him the make and model of the monitor.  I texted him a picture.  A while later he called.  He'd just gotten off the phone with the manufacturer and they said it absolutely would not lose any data because the battery had gone dead.  That was a blatant lie.

So I tracked down another medical supply company that comes out to the small town we live in.  And Paul called the insurance and explained the situation and they said that they absolutely supported switching immediately and not to turn in the old monitor until we had the new one.

And then I called the pulmonologist's office and asked for a new prescription for a new monitor.  And while I was on the phone with their respiratory therapist, and while she had Tessie's chart pulled up, I asked if she could tell me how the information they'd received looked.  I explained that Dr. H had said she would call me, but that I knew she was really busy and that these things took time.

There was a pause.  The files weren't there.  They hadn't been sent.  Oh, actually there was one.  12 days.  Of the month and a half they had sent 12 days.

Of me putting the monitor on and off five times a day for car rides and naps, and Tessie's poor little foot getting raw from the tape and bleeding, they'd managed to only successfully transmit about 30% of the data.

Which is when this post turned back into a rant and my week and a half of progress, cooling off, was completely undone.

I just can't even go on.

Deep breaths.

In other news, Tessie saw her neurologist today.  He's very pleased with her progress in her gross motor skills.  He was happy with the MRI results.  In another six months he wants to order a second MRI, just to make sure that the bleeding in her brain hasn't grown.  He doesn't think it will, but he wants to be sure.

And because we've noticed that Tessie tends to get clumsy when she's awake before she has apneas he gave me a lab slip to take her in and have a certain test done looking for metabolic problems (again) the next time she's very clumsy.  It will hopefully eliminate something called "intermittent maple syrup urine disease" which google tells me twenty people in the world have.

I feel like our odds are good.

We're still waiting on the insurance approval for the scary test though (that 1000 people in the world have... still fairly good odds).  Maybe it's a good thing that my frustration with the whole monitor information has kept me distracted from dwelling on that overly much.

Here's hoping the next company can get the data and actually transmit it to the doctor without all of this extra drama.

Because I'm sure I can find the energy to keep fighting all these extra, useless battles, but I'd rather not have to.  

Friday, April 7, 2017

Super Tessie Update

I realized at around 3:30 this afternoon that it was unlikely that we were going to hear from the neurology office today and that we were heading into the weekend without any answers.

And so, sounding truly pathetic, I called and left a message for her pediatrician on the nurses' line, asking them to take a look at the recent MRI results and to please call me back so that they could hopefully tell me that what I was looking at wasn't as terrible as it seemed.

The nurse, who was actually the first person to suggest apnea, three months before she was diagnosed, and a full month before anyone else even considered it, called back immediately and said she could definitely see why I was nervous and that she'd make sure that either she or the doctor called back before the end of the day.

She called back a couple of hours later with great news.

She said that the doctor said that it's a historic bleed.  At some point in the past, deep in her brain, Tessie had a bleed, but they don't believe that it's clinically significant at this point.

So it looks like we haven't uncovered the reason for her central apneas, but it also wasn't the horrible thing it sounded like it was when I read it myself.

And that is your Friday night update!

Thank you for all your prayers!  Hopefully we'll hear that the genetics tests has been approved and we'll be able to answer that question once and for all soon.

Thursday, April 6, 2017

While We Wait

Looking back to that phone call two weeks ago, when the results of Tessie's MRI came back, I realize that the person who called selected their words very carefully.

She said "I was calling to let you know that your daughter doesn't have the brain malformation we were looking for.  She doesn't have the Chiari malformation."

"That's great!" I said, barely feeling relieved as I began to worry about the next bath of tests.

I quickly announced on Facebook that the MRI results were good.

With perfect hindsight, I realize that that wasn't what the caller from the pulmonology clinic had said though.  She never said that the MRI was good.  She said that they didn't find the malformation they were looking for.

Yesterday a thick packet of paper arrived from the geneticist's office.  This is something new that's begun to arrive from our doctor's offices lately since they've switched to a new office operating system.

Most of the packets arrive with a list of immunizations and a few sentences about what the appointment was about.

Well baby check.
Developmental delay.
Central apnea.

stand one on top of the other in a neat line down the page.

This envelope bulged with the weight of the paper it held and when I ripped it open I found pages covered with a tiny font with some of the words in bold, and others in ordinary type.

I made dinner and paused for a moment in the kitchen, the papers catching my eye.  Paul had called at lunch time and announced that he had gotten a call for a job interview that was going to take place in at a restaurant at dinner time, so I knew that he wouldn't be home.  I'd already thumbed through the papers once, but this time I leaned against the counter and read it line by line.

I almost didn't pick it up a second time because I thought that I already knew what it said.  It had information from my conversation with her geneticist in the PICU and then later about her appointment.  When I was nearly done reading through the notes a section in bold caught my eye:

Brain 3/20/17: GRE hypointensity associated with glomus of the right lateral ventricular choroid plexus is probably due to previous choroid plexus hemorrhage.  Other calcifying or hemorrhagic lesions the choroid plexus are less likely.  

I tried not to freak out.  I failed.  I managed not to call Paul and ruin his interview.

I served dinner and got the kids into their pajamas and got them to bed and congratulated Paul when he called and announced that he had got the job and would be starting first thing tomorrow (today now).  And I googled "choroid plexus hemorrhage" and "GRE hypointensity" and then "what causes a choroid plexus hemorrhage?"

And then I watched Tessie sleep and wondered if she had had a stroke before she was born.

By the time Paul got home I had already reminded myself at least a dozen times of how well she's doing now.  She's pulling herself up to stand.  She's saying "dada" and "mama."  Earlier this week after I posted about how she won't eat or put anything in her mouth, she grabbed a piece of pizza and tried to devour it.

But I also remember the feeling in the hospital when I was nursing her, or watching her lay silently in her bassinet, and I felt like something was just off.  She isn't a normal baby, I kept thinking and then I asked myself what I really knew about "normal babies" anyways.

She was just so quiet and "good," always sleeping and never fussing or crying.

This morning I left a message on her neurologist's nurses line, saying that I didn't think they'd probably seen the MRI results from the other hospital yet (it always seems like it takes a while before they get the results) but that I'd seen them and I had a question.  Then I read the sentence that I'd read a few dozen times since I first spotted it and said that I was hoping they could call me and tell me that it wasn't as terrifying as it sounded on the report.

I'm still waiting for a call back.  I'm guessing her doctor wasn't in today and I'm praying that he's in tomorrow and that they call me back before the weekend.

And that they tell me that it sounds way scarier than it actually is.

In the meantime I'll keep looking at her, because, I mean, look at her.

She couldn't be any more perfect and lively and lovely.

As always, we appreciate your prayers and thank you for bearing with me while I write out all the thoughts bouncing around inside my head, trying to barrel their way out.

Monday, April 3, 2017

The Tessie Update: A Jumble of Thoughts, Relief, and Worries

I'm not sure why I've been struggling to sit down and post lately.  Things have been busy, as they tend to be around here, but I have had time.

It's just that every time I sit down to write the Tessie post that I've been meaning to update all of the feelings and nervousness that I have about whatever it is that's going on with her get too big and I stop.  And I've composed a dozen other posts in my head that I haven't written down here, because I needed to post this update first.

So here goes.

Let's start with the obvious.  Tessie is growing. She's happy.  And if we take the whole breathing thing out of the equation she's healthy.

Gloriously healthy:

I can't even remember what I've already written on this so bear with me if I repeat myself.

So far we now know for certain that Tessie has central apnea.  We know that it's on the more severe side of things.  But while that's scary, it's the least scary part of all of this.

Let me go back.

Tessie's doctors have explained that the causes of central apnea are generally a heart problem, a brain malformation, mitochondrial disease, prematurity, or a certain gene called PHOX2B that with a certain mutation leads to something called Congenital Central Hypoventilation Syndrome (CCHS).

In the hospital we eliminated the possibility of a heart problem.  She has a little hole in her heart, patent foramen ovale, but apparently 25% of the population has it and it's not a big deal and if it weren't for the apnea we likely never would have known about it.

Next was the MRI that I mentioned on the Facebook page in a prayer request.  It was nerve wracking to have her going in for sedation, because in the PICU they had said that they don't like to send babies with central apnea for MRIs because they're likely to just stop breathing and not start again when they're sedated.

Unfortunately the MRI that was taken of Tessie when she was sleeping didn't clearly show her brainstem, so it needed to be redone.

We drove to a children's hospital an hour and a half away, arriving at 6 am with an angry, hungry, fasting Tessie.

I told Tessie's nurse that I was nervous because of what they'd said at the other hospital and her response reassured me.  She said: "They were absolutely right not to do the MRI there since she has central apnea.  Because that means that now she's here.  We are the number one sedation center in the country.  We sedate six thousand children a year."

She went on to explain all the different things that they do in the sedation center, and that after I said goodbye to Tessie they would give her a gas that would put her to sleep and then she would be intubated.

They weren't going to allow for the possibility of her having an episode in the MRI machine, so she was put on a ventilator that breathed for her while she was sedated.

The MRI was done, and she woke up voraciously hungry and immediately was able to nurse, which was a very good thing.

We headed home and received the results only a few days later.

The MRI was normal.

I will admit to somewhat mixed feelings about this.

I wanted to MRI to be normal.  But I will say the MRI coming back as normal increased my anxiety exponentially.  Because if we go back to the causes of central apnea that leaves three.  Prematurity, mitochondrial disease, and the PHOX2B gene.

We were extremely confident of Tessie's due date, it was confirmed to the day multiple times by early ultrasounds (the first was at five weeks) because it was a high risk pregnancy, and when she was born at 39 and a half weeks she was 8 lbs 12 ounces.  In other words, she was not premature by any stretch of the imagination.

That leaves the PHOX2B gene and mitochondrial disease as possible common (or should I say uncommon) causes.

Tessie's geneticist said that based on the second round of test results (because the first were slightly abnormal) that she does not believe Tessie has mitochondrial disease.

Which is why my feelings upon getting the MRI results were mixed.  Honestly a mild chiari malformation sounded not all the bad compared with what I'd read about the syndrome associated with PHOX2B gene.

I was incredibly grateful the results didn't show something horrible.  And still terrified about the possibilities that were left.

So the relief that followed the positive results was immediately replaced with anxiety about Tessie's upcoming appointment with her geneticist.

The thing I had been clinging to, through all the other appointments, was how far Tessie has come developmentally since December.  Her geneticist, however, after evaluating her, had some concerns.

She still has some social delays.  She still has fine motor delays.  And she has a huge oral aversion and will not put anything, other than her thumb and fingers, into her mouth.  She has entirely refused every type of nutrient that doesn't come from nursing (which we're working on with two therapists).

Normally I'd be all "we do baby led weaning" and let her do her own thing but with the delays she's already had we can't really just wait around to see if it will all be okay.

Developmental delays, along with central apnea, mean that CCHS is still on the table.

I asked her how likely it was at this point (because she was going to say "oh not likely at all," right?), and she replied that because of the developmental delays and central apnea we really needed to order the test.

And so we wait for the insurance to approve her request (because it's an extremely rare condition and an uncommon test), and then we wait for the test packet to be sent to us, which we then take to a lab, and then send via FedEx to the lab that processes these particular types of tests.

I've been praying constantly that the tests show that the gene is normal.  I've also been learning as much as I can and trying to mentally prepare for the possibility that it might not be.

I'm trying to have hope and balance that hope with the desire not to be blindsided if the results are bad.

It's been explained to me by her doctors that the treatment for a positive result on this test would be a tracheostomy and ventilation, at least at night.  CCHS is considered a fatal disease, although when managed with extreme care people survive with it.  The biggest concern is that someone with it can never, ever fall asleep off of their ventilator because they might not wake up.

This video basically sums up what we'll be facing if the test comes back indicating this gene mutation:

A Week at a Special CAMP from Aaron Cahan on Vimeo.

Right now Tessie's monitor tells us when she isn't breathing, or when her oxygen levels are too low, and an alarm goes off until either she starts breathing again on her own or until I rub her back hard to make her start breathing again.  It's nerve wracking.

But I also know that 1 in 7.5 million have this mutation.  At least that's what I keep telling myself.  I imagine the sleep study results somewhat skew those percentages but still.  Only a thousand people on earth have been diagnosed with this syndrome.

What are the odds?

They must still be heavily in our favor, right?

I've asked Paul this question so many times, looking for reassurance, that I've just about driven him to distraction.

So now I guess I finally understand some of what I didn't understand during our first meeting with her pulmonologist.  You see, during those first few couple of months after the sleep study I was focused on the central apneas.

"She stopped breathing forty five times!" I said at our first appointment at the sleep center.

"That's not the bad part."  Her doctor replied.  "I mean it is bad.  But what I'm concerned with is this number here.  The 130 hypopneas."

At the time it seemed so odd.  Shallow breathing is still breathing.  Why would you worry about that when she stopped breathing altogether forty five times.

There were so many other questions that I asked that I didn't ask that one.

As I've been reading though it came back to me and I finally understood.  Because the hypopneas were when her oxygen went down to 79%.  Because the hypopneas point to CCHS.

Which is still what's happening now.

Tessie's alarm goes off for one of two reasons.  It will sound when the little sensor on her chest says that she hasn't taken a breath for twenty seconds.  Or it will go off if her oxygen levels fall below 89%.  It frequently sounds for either reason.

But never at the same time.  Either she is having an apnea and her oxygen levels are still high or she's breathing too shallowly and her oxygen levels are abysmal.

Now we wait.  And pray that this time it doesn't take the insurance two months to approve the test and that they approve it the first go around (it took two months to approve Maggie's genetic testing).

Prayers that she doesn't have this mutation are hugely appreciated.

She will still have central apnea.  She will still be on a monitor.  But if we could just eliminate these last few causes then we could go on hoping that for some reason her brain is still immature and that she might outgrow it.

For anyone who's made it this far through my rambling, that's the latest.  We appreciate your prayers so much.  Hopefully we know more, and receive good news soon.  One more normal test and I will be enormously relieved.