Ellis had an overnight sleep study done at home on Tuesday because he frequently stops breathing in the night. He also really struggles to get the air in and out and is very noisy. Since he was a tiny baby he's had issues with lying down (he would gag and choke as an infant, to the extent that he was always in a bouncy chair or carseat) and it's something that we've 'got used to'. We've mentioned it to Drs before but it's been put down to his GERD (which is mild/moderate).

Anyway, community nurse brings the equipment on Tuesday and shows us how to set it up. Within 10 minutes of Ellis falling asleep the alarm is sounding. For the next hour his SATS are dropping to the low 70's and holding for 5-10 secs then rising to the low 90's, holding for a similar time then dropping again. I phoned the hospital and talked the nurse through what was happening and, after talking with a Dr, she told us to come in ("Do you have a car or do you need us to call an ambulance"). Felt a bit of a panic coming on at this stage.

Anyway, after seeing 3 different Drs in 24 hours (all with different views) I'm a bit confused.

Dr 1 wanted us to stay in and repeat sleep study then be referred to an ENT appointment the next morning.
Dr 2 felt it could be a 'brain thing' as he doesn't suffer from throat infections, or maybe down to his general low muscle tone.
Dr 3 said his tonsils are enormous and need to be removed as that is the most likely cause of the apneas. He does have a chest infection at the moment (we get them every 6-8 weeks) but his GP has never mentioned his tonsils/throat being inflamed (and we have a wonderful GP)

Am totally confused as to what should happen next. Does anyone have any advice?

I was told that the sleep study reading was 'unremarkable' but surely SATS that low aren't normal?

Sorry it's a bit long but am very worried,
I should also add that he is hypotonic and has general low tone due to a rare chromosone abnormality.
Regards,
Laura

Hi, Mum2Ellis,

Sorry you have to be looking for advice but glad you came.

Isn't it a shame that YOU as the parent have to determine WHICH dr. to believe and follow!?! That is quite crazy! Didn't they even consult WITH one another?

I am not a doctor, but as a parent, I can give you advice out of my experience. If I were in your position, yes, I would repeat the sleep study. My son's first sleep study (in a lab)picked up nothing, ABSOLUTELY nothing. Even the pulmo dr. was amazed. She was sure he has sleep apnea (due to mouth and throat structure, she said). 2nd study picked up 15 apneas an hour - moderate sleep apnea.

After that, you should get a referral to the ENT, because they can coordinate your son's sleep care, including making the decision to remove tonsil/adenoids. In my son's case (he is 11), we are using CPAP first and if not much improvement is seen, we will consider surgery. I have a thing about surgery (no, unless it is necessary), and since he is close to puberty, it may not be. My ENT is very responsive to this plan. We also have a pulmonologist involved and a developmental pediatrician. Our developmental pediatrician coordinates all the docs from the different specialties and helps me with a plan for my son, that looks at the whole child. Not just one area. If your GP is good at this, consult with them.

As for this being a "brain thing" and caused by "low tone", what does that have to do with O2 sats in the 70s? I don't know really how to respond to that. Did he follow that up with what you should do, if that is the case? I admit I am not familiar with hypotonism, but no child should be having low sats on a regular basis. Too much is at stake with learning and development.

I hope that has helped. I hope others will join in with what they can give. Just remember that if something doesn't sound exactly right to you, you have the right to a second, third, fourth, even fifth opinion. We went throught two cardio drs., three peds., four neurologist and one the best hospitals in town before I got ALL the care my son needs. Keep up the faith, and ask as many questions as you can. Write them down and any terms you don't understand. Make them explain. That is their job.

Take care,

Judi

Hi Judi,
No, the Drs didn't appear to chat to each other. To make matters even worse his developmental pediatrician was on the ward that day and didn't bother to come and see us!

The low tone could be causing his trachea to collapse when he breathes and if he has his tonsils/adenoids out there is an investigative procedure they can do (forget what it's called but have it written down somewhere!) to confirm this. I'm interested that they've let you do the CPAP first as Ellis is only 5 and has already been through a lot. We have an appointment with his GP on Wednesday so I'll discuss that possibility with him.

Ellis already has moderate learning difficulties (due to the chromosome disorder), so if there is a possibility this treatment will improve his concentration and ability to remember then that is a huge plus for him.

I've just read on another post that anything below 95% is not good for children. Ellis only reached 96% at the highest. What is considered a 'bad' reading? Although he was regularly going to 72-76 he was only down there for 5-10 seconds before rising, holding up there (usually low 90's) for a similar time and then falling again.
Thanks again for your advice, I really appreciate it,
Laura

I know the younger they are, the first line of attack is surgery. Because my son is close to puberty and there was another complication (my son has just been diagnosed with Dysautonomia-an autonomic nervous system dysfunction), I did not want him under anesthetic. Trying CPAP first bought us time to continue our investigation into Dys.

Now, I understand about the low tone. Thanks for explaining it to me. Yes, I can see where that can could come into play. Again, try to find a doc who has some experience with hypotonism to help make the best decisions. I just have a thing about children and surgery. I am willing to do whatever is necessary, but surgery is always something I think about real hard before I say yes.

I have been asking the same question about O2 sats that you have. I NEVER get a straight answer.  Basically, yes, you are correct, under 95% is not good. We had another parent on here whose daughter I believe needed oxygen in addition to CPAP due to her low sats. If you can get an answer, let me know. All I know is that I have a child with permanent brain fog, memory deficits, executive functioning and learning issues. I believe it is due to moderate OSA and Dys going undiagnosed for so long. I also have a sister whose life has been so problematic and we just got her diagnosis of almost severe OSA. That is one of the reasons I have begun to talk to EVERYONE about sleep apnea. It can alter someone's life. The good news is that yes, some children improve with treatment, so hang in there. You are starting much earlier than I did.

Take care,

Judi

hI---I'm thinking that all 3 doctors may be correct.  Maybe instead of thinking as their opinions as being in competition w/each other, think of them as being multiple pieces to the puzzle....with some peices still being missing.  He could be having problems with tonsils AND hypotonia.  An ENT could diagnose the size of his tonsils, tongue, uvula and a sleep study can evaluate the occurance and frequency of apnea as well as determining if they are obstructive or neurological in nature.  I think an ENT could coordinate all of that.


my son has global hypotonia also, due to a cerebellar malformation.  He is 24 yr old.  I have always wondered about this contributing to apnea however drs have never investigated it.  I believe the test you are referring to would determine if he has 'laryngomalacia"  which as i understand is basically what you have described:  the throat and palate muscles decrease in tone during sleep (along w/all the other muscles) and if they collapse against each other blocking the throat it causes obstructive apnea.  I don't think surgery is usually involved, just understanding what is going on and indicating the need for observation/monitoring.

From how you describe his O2 sats, I think the concern is that is happens so frequently and that he remains in the 90's so briefly.  96% is normal O2.  Usually if the O2 stays anywhere in the 90's there is not [i]alot[i] of concern (by drs), from what I understand.   Also, desat ing (even into the 70's) for only 5-10 seconds is so brief I don't think that would be a major concern (that's how it is w/my son) EXCEPT for the fact that it happens with every few breaths.  I think with that frequency it could be a problem. It definitely indicates need for further evaluation.   I would think you might want to ask about the need for using an apnea monitor on a nightly basis, as well as to whether supplemental O2 is needed.  ONe thing on my son's sleep study report is that they note how much total time is spent w/O2 below 90.   In my son's case it is less than a minute for the whole night.  However, sincy your son does it so frequently it may add up significantly for the whole night.

IF his tonsils truely are 'enormous' then their removal might take care of the problem---or at least reduce it quite abit.  My son's tongue and uvual are said to be "slightly enlarged" but i wasn't told that until he was a teenager when I took him to an ENT re: possible apnea.l(His GP never thought this was necessary, but I did it on my own).  BUT, if he's having tracheomalcia having the tonsils out won't fix that.  That part is neurological, like his overall hypotonia, but it might improve w/age.  (My son's hypotonia was quite severe as an infant-toddler-preschooler.  Now, as a young adult it is moderate and perhaps even mild in the legs.....but his motor abilities are still severely limited due to motor planning and proprioception impairments).

Does he breath fine during the day?  How well do you think his GERD is being controlled?  I've heard that can contribute to apnea as well.  Do you think he should sleep w/his head elevated?  Does he sleep on his back/side?  Does the position he's laying in make a difference w/the breathing?  (I think--but am new to this also-- obstructive apnea usually occurs more frequently when laying supine--on the back-.  My son's actually occurred on his side---none when he was supine.  My thoughts are that this is because of his tongue/uvula being what's involved as oppossed to tonsils but nobody has told me that ---just my own thinking).

 I have not met w/a sleep specialist re: my son's sleep study yet.  That is something else you could ask about---meeting w/the sleep specialist re; the data recorded during the sleep study.  (was it an actual sleep study, or just an overnight oxometry )?   The oxometry does not indicate apnea----only oxygen levels.  

I believe, especially in the case of obstructive apnea (vs central) that the number of times it occurs varies on different nights.  So the sleep study results might show something else if repeated.  Just be sure your insurance will cover it (mine only pays for 2 during a 5 year period).

I don't know if this has been helpfull or not, but mostly just wanted you to hear from someone familiar w/hypotonia and resulting delays/disabilities.

Welcome, Laura!
I think the previous poster had some good points. Your son could be having breathing problems due to many different reasons, rather than one specific problem. His resp muscles may not be strong enough to keep his sats up while asleep; if his tonsils are big they could be occluding; and the laryngomalacia/tachealmalacia may be contributing as well. It is a great idea to see if the ENT and pulmonologist can communicate. I should warn you tho that my son's ENT and pulmonologist do talk to each other, and I am not sure that they have any more answers together than they did separtely.

My son is 7 month old. He started turning blue shortly after coming home from the hospital. He was also a VERY noisy breather. It always sounded like he was struggling to breathe. His ENT did a flexible laryngoscopy to visualize his larynx to determine how floppy it was. Fortunately, his was mild laryngomalacia, and his breathing is much improved with age as the cartilage gets stronger.  He only sounds bad if he has been crying hard. Your son tho, has hypotonia which could definitely cause some floppiness that won't go away with age.  Has your son had a overnight sleep study (polysomnogram) or just a pulse ox study? The polysomnogram is the only was to get an accurate picture of his sleep. It will also help determine if CPAP at night might help him , or if he just needs oxygen (as in my sons's case). Hopefully, your doctors can come together to help you find some answers soon.
Good luck,
Kim

Thanks everyone,
We're off to see his GP tomorrow so I will be going armed! It was just a basic pulse/02 study he had, I hadn't realised that there was a more detailed option available, and will ask about it. I feel much more at ease with things now and am almost looking forward to seeing the Dr!
Embryopathy- it was great to hear from someone with experience of hypotonia and the idea of thinking of the advice as 'pieces in a puzzle' really helped me. I had been really worked up but, actually, you're right.
Yes, he breathes fine when he's awake, no problem at all. It is when he sleeps, particularly on his back that it's so bad. I've tried propping him and turning him onto his side but it seems to be where he naturally turns to. I'm not sure about how well his GERD is being controlled, in fact I'd made tomorrows appointment BEFORE the O2 study primarily to discuss medication!
Thanks again for the support and advice and we'll see how it goes tomorrow!
Laura  

How did his appointment with the Pediatrician (GP) go?  I have been thinking a lot about your predicament and have been praying you have peace of mind and are able to sleep. This can certainly be nerve wrecking!

Thank you for your thoughts, I really appreciate it.

Unfortunately, the hospital hadn't notified our GP the reason why Ellis had been admitted into hospital (just that he'd been admitted) and he had assumed that it was because of a chest infection (we get sent in frequently because of those). After I'd filled Tim in on the sleep study he recommended an 'exploratory under anasthesia' and to get his tonsils and adenoids removed then testing for the laryngomalacia all in one hit.

Good news is we're being seen by the ENT department on Friday (which is super quick here in Eastbourne!) so we'll have some more answers then.
Keep your fingers crossed for us,
Laura

Hey MUM2ELLIS,
 I was just on the net trying to find out what hypotonia is ( my 2 yr. old was just dianosed). When I came across your post. My son also "had" GERD until we got a great gastro Dr. he did a gastric empting test and guess what?  he has gastroparesis.  The smooth muscles of his stomach do not push the food out of his stomach. He has been on a great medicine for about a year he eats and screams a LOT less. What yuo said about your child really reminded me of my son. He also made lots of gasping/girgling noises and had to be bottle fed sitting up. Even at just a few days/weeks old.
   I feel for you. I hope you find your answers.