XP: Pulmonologist?? — The Bump
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XP: Pulmonologist??

RP from 6-12...I thought maybe someone here might be able to help.

Hopefully someone can help.  We've FINALLY gotten some answers about DD's apparent apnea.  They did a download of her monitor yesterday and confirmed she is having episodes frequently enough that we are going to see the pulmonologist next week.  Anyone know what to expect?  We've already done chest x-rays, EKG, EEG, MRI of the brain, Upper GI and a failed sleep study (failed meaning the techs sucked and they couldn't interpret the results).

TIA!

Re: XP: Pulmonologist??

  • As far as the sleep study went...how many apnecic episodes is she having. Is it daily? And what are her other symptoms if any? Is she on an apnea monitor?

    Sorry to ask so many questions...just curious. My son has Central Congential Hypoventilation Syndrome or otherwise known as Ondine's Curse. Basically his brain "forgets" to breathe while sleeping causing apenic like episodes. It is a rare genetic disorder that currently affects only up to 500 people world wide. (which means it probably isn't what DD has, but curious of symptoms)

  • We actually didn't get anything out of the sleep study.  For whatever reason, they called it "uninterpretable."  She does have daily episodes (sometimes many times a night) and is on a monitor, although I've noticed some episodes that aren't technically long enough - like 15 seconds.  At first the pedi thought it might be her reflux, but it hasn't improved with the change in meds.  We also thought it might be related to her congenital tracheomalacia, but when we did the upper GI, there was no sign of it anymore.  It was strange, because she only had 2 episodes during her 4-day hospital stay for all the testing, but I think it was because she wasn't sleeping well or deeply.
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  • By all means I am not suggesting that your daughter may have CCHS, but I do know that the ones that are mildly affected usually present feeding difficulties.

    They are a few mothers within our group that found out that their child was affected only after they turned blue with feedings. All of which have been on many reflux meds, ect. Cash is currently taking Zantac twice daily. Testing for CCHS is done by a blood test and it takes up too two or three weeks. Cash's mutation is not severe meaning that he is not vented all day. He is vented only when sleeping. CCHS is rare so some doctors may never see a case in their career. The hospital that Cash was life flighted too has now tested four children who have tested positive for CCHS. The last one being diagnosed at 2.5 years of age.

    If you have any questions let me know. I hope all goes well for you at the pulmonologist. More than likely they will probably order more test that have already been completed.

    Has DD ever had a blood gas taken to test her co2 levels while sleeping? And did the EEG or EKG show anything?

  • No, they've never done a co2 test while she was sleeping, and the EEG and EKG were normal.  The neurologist we saw in the hospital didn't think it was neurological, but pulmonary. 

    I'm really happy that the doctor we're seeing is the director of the pediatric pulmonary dept at the children's hospital.  I feel much more confident that we may actually figure something out.

  • By chance will you be going to Children's Memorial Hospital in Chicago?

    There is a Dr. there Dr. Weese-Mayer that reviews all CCHS test. I think you are headed in the right direction no matter what the outcome and hopefully your DD will out grow her episodes. Cash too had normal EEG's and EKG's and all test came back normal he just had these eposides and desated almost immediately upon falling asleep. As he gets older he can maintain better, but still needs help with ventilation. He continues to breathe but does so shallowly that he can not burn of his co2 which in a sense causes carbon dioxide posioning.

    I will keep you in my thoughts and please let me know what you learn. Have a great day!

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