Saturday, March 4, 2017

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.


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.


  1. Is central apnea connected with SIDS? From what that nurse told you (that would have scared the bejesus out of me and made me sick to my stomach) about having an "event" where they don't start breathing again, I wonder if this is why babies died of SIDS.

    At least with the monitor you can sleep, knowing she is okay if you don't hear it.

    I'll keep praying this is healed, and for you to have strength to bear this and cope with it.

    God bless.
    ~ Bonnie

  2. Thanks for the update!
    Much love, Michelle

  3. How absolutely TERRIFYING. My heart just goes out to you. I'll be sure to keep you all in my prayers and ask God to give wisdom to her doctors that they find and treat the cause. I simply cannot imagine what you are going through.

  4. I wonder if the difference in Tessie us she has been getting more good rest when yall (or alarms) rouse her a little bit where she starts breathing quicker so she is overall getting more oxygen?

    Regardless, thinking and praying for all of you

  5. This is terrifying. Tessie is so blessed to have you as her mom. (They all are!)

  6. We'll be praying for you all and sweet Tessie! So glad you have the monitor. I really wish that nurse hasn't said what she said. Not that I know much, but I'm pretty certain that's not the way this condition always ends up going. May God bless you with hope and faith and joy in each other.

  7. Oh my goodness! What a hard thing for your family to go through!! Praying for you all!

  8. Oh wow. I'm sorry. That's rough. I totally get your mixed emotions, too. How very frightening that she has this diagnosis, but what a relief to have some handle on what's going on and to be believed and start getting the help she needs! We'll be praying for you.

  9. Well, I was able to look it up and find the answer to my own question: Is central apnea an indicator of SIDS? It turns out the answer is no.

    Here's a copy/past from a rather lengthy but very informative article:

    And a line in this article I find particularly intriguing: "We now know that all normal infants have central apnea; most central apnea reflects normal developmental physiology."

    Date: Sun, 13 Apr 1997

    >IT seems there is a clear difference of opinion between scientists in the
    >United States and in Britain about SIDS and apnea.

    [parts snipped...]
    >But the senior consultants and researchers I have approached here in the UK
    >all seem to agree that SIDS is self-evidently a form of apnea, and that
    >SIDS and apnea do not need to be differentiated. Dr. Richard Wilson,
    >Consultant Paediatrician at Kingston Hospital and Vice Chairman of FSID's
    >Information and Support Committee explained that "this may be a confusion of
    >words"; apnea simply describes the fact that SIDS babies stop breathing.
    >And Dr. Iona Jeffrey, Consultant in Paediatric Pathology at St. George's in
    >London, was clear that "of primary importance, we think, is that the baby
    >stops breathing". Her confidence about this is based on the supposition
    >that if something had gone wrong in the brain it would show up clearly in a
    >postmortem examination (as a swelling or haemmorage, for example) whereas
    >infact only tiny changes are observed in the brain of a SIDS victim, and
    >these are consistent with the failure of respiratory mechanisms.

    The confusion surrounding the "apnea issue" is understandable in view of the widely differing opinions and beliefs about "apnea and SIDS" held by health professionals. However, within the scientific community of researchers who study SIDS, control of cardiovascular and respiratory development, and developmental physiology, there is very little disagreement and a reasonably clear consensus.

    To understand the source of the confusion one must understand how "apnea" got to be so closely associated with SIDS in the first place. The term "apnea" simply means "not respiring" in the sense of not moving air into and out of the lungs. There are only 2 ways this can happen: 1) cessation of breathing efforts and 2) blockage of the upper airway, so that no air can be taken in, in spite of continued breathing efforts. The first (#1) is called "central apnea", defined as cessation of respiratory effort (breathing) due to lack of breathing signals (drive) from the brain respiratory control centers. It is called "central" because the apnea is caused by a momentary lack of nerve impulses from the CENTRAL nervous system to the diaphragm. This is the type of apnea that has, in the past, been associated with SIDS. We now know that all normal infants have central apnea; most central apnea reflects normal developmental physiology. The second type of apnea (#2 above) is called obstructive apnea, because the "not breathing" is actually caused by blockage of air entry into the lungs because it cannot pass through the upper airway. In the case of obstructive apnea, the person continues to make breathing efforts, but no oxygen can be taken in because the airway is blocked.
    Read the rest at

    God bless.

    1. That's so interesting Bonnie! I know that when I asked questions of most of the doctors in the hospital from "Can central apnea go away?" to "Would she have apneas every time she was asleep?" I would get answers, but there was definite hesitation (I was told repeatedly that no it wouldn't go away and that yes, she would have them every time. I joined an online apnea group for parents and asked if the kids there who had central apnea (definitely a minority) had them every time and every person who responded said no, it could be every time and then not for a day or a week or four months and then start back up again. The more doctors I talk to about her and the more I read the more I feel like there's a huge amount unknown. I'm just thankful that for whatever reason she keeps starting back up again.

  10. Hugs, prayers, more hugs! Sometimes the waiting to find out the root cause of something is even harder, at least in my experience. Here's hoping the MRI will find/not find something that will give you a treatment trajectory.

    And gosh darn it, she's the cutest baby on the Internet! ;)


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