How Did You Know and A Few Good Tools for Getting Help

"How did you know?"  This question is often asked by parents who have witnessed behaviors or missed milestones who aren't sure quite how to proceed in figuring out if their child needs more help, or even if they might land somewhere on the spectrum.

First let me share the tools that I've found helpful, and then I'll get into answering the question above a bit more thoroughly.

I am a big believer in parenting instincts when it comes to something being not quite right.  And over the years I've found a few websites that can be really helpful in helping parents sort out whether or not things are outside the range of normal, which is really quite a large range, although not so large that some of us don't find ourselves, or those we love quite outside of it.

The first website that I go to allows you to take a test called the ASQ, online.  The ASQ, or the Ages and Stages Questionnaire, can be extremely helpful when a child is missing key milestones.  I first took it for Patch when our pediatrician's office used it before each Well Child check.  I quickly realized that it was a very valuable tool.

In my experience it has been amazingly accurate at raising red flags when and where they need to be raised.  And the best thing about the ASQ Oregon site is that it tells you where there are delays and allows you to print out your results and take them to your doctor to say "look, I was worried so I filled this out and these are the results."

It helps me explain exactly what's going on in a way that is easy for my doctor to understand, and our pediatricians have always felt that that test is a solid indicator for sending the kids on to the correct testing with other therapists or specialists.

The second test is the MCHAT.

The ASQ can be given to babies.  The MCHAT is for toddlers who are at least 16 months old (the ASQ can be given to toddlers too).  When you take the MCHAT online, like the ASQ, the results will let you know if there are concerns and you can print the form and take them to your doctor.

Having red flags on the MCHAT doesn't mean your child has autism, but it is a good starting place to get answers.  Maggie had a ton of red flags and she is on the spectrum.  James had five (which alarmed his developmental pediatrician) and his therapist and doctors are extremely pleased with his social communication skills at this point and if his extreme articulation of every feeling he has is any indication I'd be rather surprised if he ends up being on the spectrum.

Those are my two favorite starting points, along with finding a good pediatrician, preferably one with experience in developmental delays.

It took us a long time to find a doctor that was good for Maggie.  At first we just went to the local pediatric clinic.  We quickly realized that this was too hit and miss.  On the one hand we met the doctor who told me "I am a hundred percent certain that your daughter is autistic" there.  She was amazing.  But once she moved on I had a doctor ask "what's OT?" when I was explaining the therapies Maggie was in and another tell me that nothing could be wrong with Maggie (who'd been running a fever for a month and a half) because she was too energetic.

We realized that we needed to find a doctor that understood autism, and who could see past the fact that Maggie could go from sleeping twenty two hours a day with a fever at home and not drinking any liquids for two days, to bouncing off the walls of a waiting room, because she has that sort of endurance when she's super stimulated.

The other starting point we've used is directly contacting our state's Early Intervention program.  With Patch, the doctor contacted them for us.  With James and Tessie we were already in contact with Early On (the Michigan program) because we had an older child in the program, and we made the referral ourselves (Tessie was actually spotted by three different therapists who suggested that I make the referral because she was so unresponsive when she was 1-6 months old).

Early intervention can be huge.  Honestly I would rather take the chance of being overly concerned and be told that everything is fine, then miss a problem and have to deal with more therapy later on.

In a few months James will be graduating from all forms of therapy.  He's been doing PT since he was seven months old (he couldn't prop sit on his own at ten months).  And I credit the hard work from his early interventionists with the fact that I'm going to have far less appointments in the future than I would have if we'd "waited to see" what was going to happen.

He's worked really hard to get where he is and it shows.

Hopefully you'll never have to use any of these resources, but if you do it's good to know where they are.

As to "how did you know?"  That's trickier.  I didn't for a long time. I thought that we had late talkers.  Maggie made eye contact with me constantly.  She didn't maintain eye contact, but she made it.

For us the symptoms were specific, but I seldom see her when I see those "what to look for" lists.  She liked spicy foods and strong flavors.  She didn't appear to feel pain, especially when she was really hurt, and her responses to pain were inappropriate.  When she was struck by a kid swinging and thrown about ten feet, she jumped up, giggling.  She was very cuddly, but she always wanted her skin covered, usually in a sleeper, because light touch hurt.  She wanted to be held and squeezed tightly.  She never stopped moving.  She broke everything, usually without meaning to.  She was incredibly strong and incredibly coordinated.  She made high pitched squealing sounds.  She guided my hand to get things she wanted, and to point to things (once she got older).

She never rocked or flapped.  She was incredibly cheerful and happy most of the time.  She pointed.  She made noises to get my attention.  She played with other children.  And she always noticed if someone else was upset and would come over and try to cheer us up.

Perhaps the biggest red flat though, was that she "had no tether" as James' therapist calls the thing that keeps him near me when we're out.

When I'm out walking with James I rarely have to worry about him going far from me, because I know that he will stay right next to me if he's out of his stroller.  Usually he'll say "Hold hands!  Hold hands PLEASE!" if I'm not holding his hand.

It is amazing to me, and fantastic.

Maggie on the other hand, had no tether from the start.  Once she was old enough to crawl she was crawling away without looking back.  And once she could run?  We were constantly chasing her down, making sure she didn't sprint into traffic.  It was terrifying.

I'm not sure my answer to "how did you know" is all the helpful because the saying "if you know one person with autism, you know one person with autism" is so incredibly true.

And that is basically the guide to the tools that I use when I have questions and the answer to the question of how we knew, or really, all the things we missed for quite some time until her pediatrician pointed it out.

In Tessie's case, being able to use these tools to express what was going on is what got her sent to the neurologist that ultimately realized that we weren't looking at a developmental delay (at least on its own) but that there was an underlying medical problem for her missed milestones, leading him to find the central apnea that had her so exhausted she had no energy for anything else.  And if the number of times her monitor have sounded telling us she isn't breathing are any indication, that may well have saved her life several times over.

If you have any questions I can try to answer them, and if I can't there are usually other people in the  comment section with invaluable knowledge that can!

All of the photos in this post are of Maggie.  I used them because one thing I commonly hear is that if a child is happy and looking at a camera they obviously aren't autistic.  That has never been our experience.  Maggie was a challenging toddler, yes, but she was always extremely happy.  And in my experience many kids on the spectrum are pretty curious about electronic devices.  Looking at my phone that I'm taking a picture of her with is very likely to happen, possibly because she's plotting how to swipe it to watch Bubble Guppies and look at pictures of mermaids.

The Bits of Advice I Have Left to Give: Mermaid Soap

Before I had kids I had the very common problem of knowing all there was to know about raising children.  

Once I had two, when they were still both very small, but big enough to be easier than they were when they were tiny, I knew even more and had enough advice to fill this blog with posts every day of the week.  

Now we have five and I have very few set in stone parenting opinions that haven't been smashed to bits by one child or another.  There are things that have worked better than others, but across the board success is rare even when talking about things that seem like they should be simple like sleeping and eating.

But there are still two areas where I find myself giving out advice, usually after being asked, and I thought I'd share those here.  

The first is simple.  There are many, many products on the market for eczema.  Some are very expensive.  We've had a number of kids with allergies, and often the allergies start with eczema, which means we've tried just about every product out there.  We slathered him with coconut oil.  We bought the expensive Aveeno baths and lotions.  And for Patch none of them worked until the day his allergist gave me advice.  

Patch was basically born allergic to dairy.  By one month it was
very clear that something wasn't right, but even while we were still in the hospital
the problems with his skin had begun.

To be honest I thought that the man was crazy.  He said to remove the allergens, which made sense.  But then he said to make up a mixture that was one part Crisco and one part Vaseline.  Around here we call it Mermaid Soap.  He told me to slather it on Patch twice a day (at the time he was a six month old covered in painful eczema) and that it was the best thing he had to offer.  When things were really bad he said to put cortisone under it.  

I followed his instructions and became a believer in the simple, cheap mixture.  And since then I've used it on all of our kids when their skin is dry.  

I imagine, if you didn't have really dry skin, it might be oily.  When you do have eczema your skin basically absorbs it very quickly and that isn't a problem.  

When we returned to his allergist for the first follow up appointment he marveled at Patch's flawless skin.  "You used the mixture?"  He said, surprise evident in his tone.  "No one ever uses it!"  I said that indeed we had because what was the point of going to a doctor and getting his advice with a problem we couldn't solve on our own, if we weren't going to listen to what he said.  

And from then on our eczema problem was solved:

The second question is a bit more in depth and deserves it's own post.  

Because the answers to "How do you know?" And "Where did you start?" when talking about developmental delays are slightly more in depth and I don't want them to be buried in the second half of a post.  

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.  

Bull.  

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.  

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.

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.

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.

Baby Doll Tessie

When she isn't zipping around the house following the big kids around (and sometimes when she is) she kind of reminds me of a doll.  It's got to be all that smiling she does!  

A Diagnosis

Where to start?

The last couple of weeks have been intense, between the appointments that we already have, and Tessie's appointments, the calendar has been packed.

On the Monday after I wrote my last post, Tessie, Sadie and I made the hour and a half drive north to the children's hospital that she had been referred to, to see another pulmonologist at the hospital's pulmonology and sleep clinic.

The day off from school meant I had a helper volunteer to come with me.

The doctor was not happy that Tessie had not been put on a monitor for the month leading up to the appointment, since that was the first recommendation that the previous sleep center doctor had made.

She said that if she had seen Tessie when she was three months or five months old, when she was struggling to make eye contact or track with her eyes, she would have been afraid that she had the gene PHOX2B, and that yes, the treatment for that gene generally requires a tracheotomy and a ventilator, but that now, with all the progress that Tessie had made she was nearly certain that wasn't what we were looking at.

She immediately put in an order for a monitor for Tessie to wear while she slept and she ordered a sleep study, coding Tessie's chart as red, which meant that the call from the sleep center came as soon as I arrived at home, and they squeezed her in for an appointment the next night.

We arrived at the children's hospital and crossed the sky bridge and sat and watched a rainbow bubble wall bubble, and a giant projection screen explode with fireworks as the other kids who had come from further than we had waited for their names to be called.

I have to say if you have to get a sleep study done on a baby, and there is anyway to go to a pediatric facility, I would recommend it.  It was so much easier than it had been at the other sleep center or at the PICU.  The sleep study tech quickly hooked her up, and when the nasal canula was too big for her tiny nose he actually pieced a custom canula together and twisted the wire around it that would feel her breath before carefully taping it in place.

It was a long night.  Tessie was furious about the wire that needed to hang down in front of her mouth, because every single time she tried to suck her thumb it would touch her hand.  Inevitably screaming would follow.  But she finally slept for a few hours, waking every hour from midnight until four, before drifting off for two more hours until it was time for us to wake up.

When it was time to wake up she repeatedly rolled over and tried to go back to sleep by burying her little face in the mattress.  But once she was unhooked she was fully awake and we were ready to be on our way.

We drove back to meet Maggie at her early morning speech and OT and then take her to "mermaid school."  And then we settled in to wait.

The sleep monitor arrived.  The first night her oxygen dipped a few times, but was otherwise normal. The second night the alarm didn't sound once.  The third night she stopped breathing around fifteen times, although I can't be totally certain because I lost count after the twelfth alarm.

Fourteen of those times the alarm woke her and she started breathing on her own.  Once it didn't.  I was laying in my bed, staring at monitor, which had gone off twice in the previous hour.  I saw the respirations per minute slowly tick down.  8, 7, 6, 5, 4.... "Tessie!  Tessie!" I said as I started to sit up.  3, 2, 1, 0.  The alarm sounded.  It kept going off as I scrambled over to her and rubbed her still little back hard until she gasped and started to breath again.

That was a long night.  But it was followed by night after night without incident.

By the time that the call came, a week after the sleep study, on Ash Wednesday, I was almost convinced that she didn't have central apnea.  Had I put the sensors on wrong that night?  I'd taken them off twice and reapplied them, but with a few good nights in between I was beginning to doubt what I'd seen with my own eyes.

Which really is the theme of the last month.

Doubt.

I knew I had seen her stop breathing a half dozen times.  But had she really stopped breathing or was her breathing just extremely shallow.  Half of the doctors that we saw believed that something was going on.

Half told me it was probably shallow breathing and that the first sleep study, which showed 45 central apneas, 3 obstructive apneas, and over 130 hypopneas, was just a fluke. One doctor told me that the "story I was telling" didn't match the baby he was seeing.  A nurse repeatedly said "I don't know why we have a healthy baby like you here...", later asking me if our time in the PICU had felt like a vacation because I have all those kids.

The answer was that it absolutely wasn't a vacation.  It was terrifying.  And I was even more afraid to take her home without a monitor, which I repeatedly asked for and was denied.

I really, really liked just about every person who worked with us and helped her, and by the end so many people had so confidently told me that nothing was wrong, that I doubted that instinct that kept telling me to push on until we were absolutely certain that she wasn't going to stop breathing again.

Even the doctors who had seen her before believed that it was over and that I had nothing else to worry about.  I knew that they were more of less humoring me when they sent her for a second opinion.  She had been fine in the PICU.

Except in the PICU there were alarms.  I tried to point our the flaw in our two nights of tests.  She had had a band around her chest monitoring her respirations.  Every time it dipped below ten an alarm sounded.  It sounded until she started breathing again.  It sounded every few minutes all night long.

A vacation, I thought?  On your vacations does a piercing siren wake you up every five minutes all night long?

I asked if the alarms could possibly have been the reason that she didn't stop breathing.  I was told that she hadn't woken up all the way, so that couldn't be it.

After watching how the monitor rouses her just enough to breath again without completely waking her, I believe that that was a huge error.

A few days ago I got the call from the sleep center.  I hadn't expected it.  They would only call with abnormal results and the doubt had been creeping in.  I was beginning to doubt what I'd seen with my own eyes again.

She had had 38 central apneas and 7 hypopneas this time.  Her oxygen level only dipped into the 80s this time, not the seventies.  But she has central apnea.  She had needed that monitor and what I'd been witnessing really was her not breathing for more than twenty seconds at a time.

She now wears a monitor when she naps and at night and when we drive in the car.  Yesterday the alarm went off in the car and continued to sound until she started breathing again.  In two weeks we go back to the same children's hospital for an MRI.  Usually central apnea indicates a problem with the brain stem, so her neurologist would really like to take a look at it to see if that's the root of the problem.

And I am a jumble of emotions.  Initially I was relieved. I was afraid that if the sleep study didn't show anything they would take the monitor away and I would never sleep again.  But at the same time central apnea is a frightening diagnosis, as I was repeatedly told in the PICU, and I hadn't realized how much I was relying on that doubt, and the hope that maybe she didn't have it, to get through the days without a monitor.

"The thing is," one nurse told me after they were certain the first study wasn't accurate, "babies with central apnea will eventually have an 'event' where they stop breathing and don't start again."

Those words keep going through my mind.

I asked the respiratory therapist who called with the results if the improvement in this study compared to the last showed an improvement in her condition.  She said that it might, or that it might just mean she had a good night.  I'm thankful that if she was going to have a night with apneas that at least it was a night while they were doing the study.

So now we wait for the next test and keep lugging her little monitor around with us.  We also wait for another retest on the organic acid test, which for a second time was deemed inconclusive.

Now for a change in direction.

The best moment in the last few days came on Thursday.  James' physical therapist hadn't seen Tessie since before Christmas.  She'd been the therapist that first suggested testing for Tessie, and she had been one of two therapists that evaluated her.

When she arrived yesterday Tessie was sitting next to the fire place but quickly raced across the room to greet her.  After watching her she said that she could not believe the improvement.  She said that in her entire career she had never seen a baby go from the condition Tessie had been in at her evaluation, to the condition Tessie was in as she raced around the room interacting with everyone and smiling widely.

We've appreciated the prayers so much.  And we appreciate them going forward as we try to figure out as much as we can about the reason she stops breathing in her sleep.  At the very least we have that breathing monitor now so that if she stops breathing it will wake us up so that we can help her.

And hopefully I'll have some good news soon to match our smiley, sweet girl.

A New Sleep Study

I originally wrote this as a Facebook status update, but realized as I finished it and posted it on my personal page that it is basically a blog post in length. And it's an update as to what has been going on these last few weeks while I've been waiting and stressing and silent here. Here it is in all it's Facebook glory:

Finally! Tessie is making the drive to the children's hospital two hours away on Monday to be seen by their sleep specialist/pulmonolgist.

 It wasn't easy getting here. A month ago her pediatrician told me she wanted the doctors at the children's hospital to see Tessie and that she was going to call a friend who worked there and see what he thought and then make the referral. She said she would do it by Thursday.

 Thursday passed, and when I still hadn't heard anything a week after that Thursday (giving referrals a time to go through) I called back. She had talked to the doctor and they wanted to see Tessie, but had forgotten to send the referral through. If I didn't hear back in a week from the hospital I needed to call back.

 Another week passed without hearing anything. I called back. The referral had been sent to the wrong hospital. Whoever sent it through didn't look closely at the destination and sent it to the hospital that did the last one. I managed to convince that hospital that we didn't need to schedule when they called and was told by Tessie's doctor's office to wait another week for the referral to go to the right hospital.

 Wednesday was a week from the last time I had heard from the office. On Thursday I called back. I found out the referral person had been sick for a week and the referrals hadn't been sent through. 

They would put it through as soon as possible.

 I explained Tessie's whole story. I told them the first sleep study showed that she had 45 central apneas and over 100 hypoexemias (I think it was 130, but who's counting at that point) and that while she'd had no events in the hospital (possibly because alarms literally went off every ten minutes the entire time she was there) I'd gotten a home monitor and that the home monitor informs me 2-4 times an hour that it senses "low movement" with a cute little picture of lungs framed in red. I have no idea how accurate the monitor is, because it isn't a medical grade monitor, because if our doctor prescribed a medical grade monitor she would have to formally diagnose her with central apnea and if she diagnosed her with central apnea the insurance would refuse to cover a second sleep study right now. 

We got the monitor after I saw her stop breathing for at least 18 seconds. Which is not quite long enough to count as an apnea but is enough to make it pretty hard to sleep. Ever.

I said that I was really, really worried.

Yesterday the children's hospital received the referral and called. They will see her on Monday at 12:30. However the scheduling person told me that right now they're scheduling into the end of March for sleep studies.

Say a prayer that they find a way to get her in earlier than that. And that the studies in the hospital were correct.

The last month has been a roller coaster and I'm ready for answers (good ones!).

She seems so much better. She's hitting all her developmental milestones now, even the ones that were way, way behind before. She laughs and smiles and looks at our eyes. She says mama and dada and loves playing with the older kids.

I just really, really want to know for sure that she's through this and that I don't need to jump up four times an hour when my phone tells me that low movement has been detected.