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.


  1. I will be praying that the insurance goes through quickly and praying that she does not have CCHS. And I'll be praying for you too. I can only imagine the level of stress this is causing you.

  2. I have no words. I cannot even imagine the levels of stress you are facing. Treat yourself gently, and remember that your husband is in the same boat, but men generally don't talk about it. You will continue in my prayers.

  3. Hi Cammie Diane. Praying for you. Don't worry about the 'rambling' - the things you want to tell us are the things we want to know. I watched that video...scary. But then, it was still a video of a beautiful, sweet, lively little girl. It sounds like she needs a lot of care (both in the physical sense and in the carefulness sense), but if it's any comfort, the *child* didn't seem to be suffering much.

    I know that sounds crazy, but I have a major and very rare genetic disorder as well. Not quite as serious - I have a severe bleeding disorder of an odd form - but I can tell you that the thing is *I don't know what life is like without it*. In that sense, it doesn't effect my life at all. I'm covered with bruises all the time, I get nosebleeds in the winter, and I need some very expensive meds and hospital time for what would otherwise be minor injuries. Supposedly, my activities are restricted - I can't do certain sports, for example - but I really don't notice. And I never did. My parents worried about it, for sure. It was really hard for them. But *I* was fine. My parents had some different rules for me than my siblings, but of course they did, I was different. I knew that, and it didn't bother me. There were certain activities at gym I couldn't do. I never learned what, if anything, I was missing, so I never felt any loss. I got to go to the hospital sometimes instead of school, and then I got to go out for lunch with my Mom. I didn't love the needle sticks, but otherwise it was great - or at least no more of a deal than being required to go to the pediatrician or the dentist or any other errand I didn't particularly like. Not being in school made up for it admirably.

    In other words, my world was taken up by being a child - the bleeding disorder was as much a factor in my childhood as my inability to fly. Clearly, life would be different if I could clot. It would also be different if I could fly. I didn't think much on it, and I still don't.

    Obviously whatever Tessie has, it will be different, but the little girl in that video reminded me of me. Whatever worries you have as her parent - and of course I don't mean to communicate any lack of sympathy for them! - aren't part of Tessie's world. She's a kid, being a kid. I was a kid, being a kid. Hopefully that's some comfort to you.

    Praying for you, Anna

  4. Praying for you guys for insurance coverage and answers!

  5. What Ann Seeton said... just wow. I can not imagine what you are going through. I can write a book listing the various medical problems my kids have/have had but it hasn't reached that level you are facing. I am now ashamed at feeling sucker-punched by the quite recent diagnosis that my 18 yo daughter is on the autism spectrum (which was behind the 2 year battle with -for her - a literally life-threatening eating disorder, but it is being treated with lots of therapy now that we know better what the problem is). You are in my thoughts...

  6. I will continue to keep your family and Tessie in my prayers.

  7. My heart goes to you and your family, and baby-doll Tessie most of all.



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