Musings of a Marfan Mom

Sleep Apnea Update

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Yesterday Baby J had his CPAP fitting. Well, let me step back a bit. Mark and I thought about it, spoke with some trusted medical professionals, and decided against doing the bronchoscopy, etc. for J. Knowing we didn’t want to do surgery yet, there didn’t seem to be any point in putting him through general anesthesia for that series of tests. I explained this to his pulmonologist a couple weeks ago and she scheduled him for a cpap fitting, but warned us that babies can’t always be fit for CPAPs.

Why did we decide against surgery right now? The issue with Marfan is that our connective tissue just isn’t like everyone else’s. It’s not as durable. This can cause everything from aortic aneurysms to dislocated lenses to joint pain and a lot of things in between. Every time I’ve had surgery I’ve had some sort of complication afterwards (maybe not my c-section with J, but it’s possible that it contributed to my lymphedema; we can’t know). Some of these complications have been very serious and required multiple surgeries to correct. We don’t want to take that risk for J at this age, not when a non-invasive option exists. I understand the risk is low for bronchoscopes or even tonsil or adenoid surgery in typical children, but kids with Marfan are not typical children.

Note: I am not saying that it is my belief that all children with Marfan should never have bronchoscopes, etc. I am saying that in this case, for my son who has no apparent surgical cause for his obstructive sleep apnea, that I don’t want to take that risk at this time.

So. I took J in for a fitting yesterday. I am really frustrated. His pulmonologist (a resident) and her attending kept insisting up, down, and sideways that sleep apnea is unrelated to Marfan and that is just. not. true. I’ve always been told that it is and we even had a special workshop on it at conference. But because they didn’t see a connection, the attending physician in particular kept insisting there must be some surgical treatment and therefore couldn’t understand why we aren’t doing the scopes and surgery. She just went on and on and on during the appointment and told me over and over how the baby is going to hate the CPAP and it won’t work and it’ll be a waste. Awesome, huh? Also, J was too small for the only FDA approved mask, so we have to order his mask from a place in Canada and cut it to fit him ourselves.

Oh and her closing line? That when the CPAP doesn’t work, I’ll have to decide whether I want to accept the responsibility of not treating my child’s severe obstructive sleep apnea and therefore the health risks that come with that. When did I ever say I wasn’t going to treat it?! Offensive!

It’ll take a few weeks to get the machine and mask, so until then Baby J will remain on oxygen. His doctor also ordered a chest x-ray today to make sure his lungs look ok, as well as a swallow study. The latter is because he still chokes regularly while nursing, which I’ve been thinking was odd but I was always brushed aside about it. Apparently it’s a sign of low oral tone. Waiting to hear when that study will take place.

When I got home, there was an email from a Marf specialist I’ve been consulting about J’s apnea. The doctor asked for some information on his CO2 levels, so I called his pulmonologist back. Turns out they never took his CO2 levels during his June sleep study! He took off the monitor in his sleep and I guess they didn’t reattach it. Apparently, if his CO2 levels increase during sleep, then being on oxygen could actually make his stats decrease. This means that there is a possibility being on oxygen all this time hasn’t been helpful at all, and could have been harmful. Argh! When the CPAP comes, a pulse ox will come with it and I can monitor his stats then. If they drop, we can assume CO2 is increasing.

After going through all that, the pulmonologist told me she’d received the results of Baby J’s x-ray. While his lungs are normal, he has an eventration: a type of hernia. His liver is pushing up against his lungs and instead of muscle covering it, there is another kind of tissue instead. The good news is that it doesn’t look severe, but we’ll need a fluoroscopy to know more. That will happen at the same time as the swallow study. I feel so sad for him though, and I pray this isn’t causing him any pain and that it won’t require surgery. My hernia surgeries have greatly impacted my life, and I don’t want that for my son.

J will be getting his pneumonia vaccine at his 9 month well-visit. Given all the lung complications that Marfan can cause, I view this as an important vaccine for kids. Apparently an eventration can impact pneumonia risk as well. With cold and flu season around the corner I don’t want to take the risk that a simple chest cold could turn into pneumonia, which could result in a collapsed lung.

All in all, a very long day.

A happier Baby J than I saw today

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6 Comments

  1. Please please please tell me that you punched them in the face when they asked you about “taking responsibility”. Seriously Maya tell me you did.

    I get so riled up when other people get involved in the everyday raising of your OWN children. The LAST thing that I would call you is negligent towards your children. You just want to treat him the least invasive way possible. It’s not like they said “Surgery is the only option, if you don’t do this you can risk his life”. There are alternatives and other options and I’m with you on exploring those options until the end result is surgery.

    Way to stick to your guns and if you dont want to punch them I’m more than happy to help.

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    marfmom Reply:

    Lol. Oh I wanted to just screeeaaam I was so mad. But I was also so shocked that she was actually suggesting I was negligent that I was silent. I really hope I never have to work with her again!

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  2. In Lee’s years of doctor visits we were lucky enough to have only come across one know it all doctor. I cannot even imagine your frustration and I DO NOT understand their push for Baby J to have surgery of any kind when there are alternatives (at least until he gets older). Our Doc’s put off Lee’s tonsil/adnoid surgery until he was 7 and trust me that child was a walking adnoid. J & M are lucky to have you advocating for them. And while I too believe that a punch in the face was in order perhaps it wouldn’t be the best idea. We don’t want you in jail!!

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    marfmom Reply:

    Haha yah jail wouldn’t be good! What I learned from the specialist we’ve been consulting over email with is that adenoid removal before age 2 is shown to have an increased rate of complications, so we’d definitely want to hold off until then.

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  3. Oh my gosh Maya, you have all the luck! How do you keep running into stupid people!? But anyways, I liked how you ended your post about this awful day, with Baby J smiling and looking so cute that it just melts your heart. :)

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  4. Wow,
    I love a Marfan’s man, i have dated him, dreamed with him, slept with him, driven to Hopkins to get re-assessed and enroll in the Losartan trials by Deitz, MD, gone through 3 progressively deeper genetic tests attempting to see if we could label the the Fibrilin-1 gene on one or another chromasome so as to potentially procreate physically without passing on the marfan’s gene, discovered that this scenerio cannot be determined for us and that our marfan chances are 50/50… So rather than pay for PGD, we could just do it the old fashioned way and have the same chance. Then i married him on the beach, made a home with him, went to the National Marfan Foundation Annual Conference in Portland, Oregon this past July. We met some ridiculously amazing human beings, all the while obviously investigating the possible outcomes of genetically reproducing with the man whom I consider to be the strongest, wisest, most creative and beautiful human I have ever known … the only man with whom I have ever considered creating a child … Turns out, I just want to have his baby, come what may. Feeling that on my own is intense. Feeling that while reading your stories/blogs (not sure) is exhilarating…
    Think were going to make one this winter. Keep in touch, will you ? Thanks.
    gypsy.cabz@gmail.com

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