Cardiac Issues in Congenital Central Hypoventilation Syndrome (CCHS)

Cardiac Issues in Congenital Central Hypoventilation Syndrome (CCHS)

(Summary as it relates to Wyatt, 20/33 PHOX2B genotype/mutation)

·         Abstracts from 2008 study on 20/25, 20/26 and 20/27 PHOX2B genotype/mutation http://www.cchsnetwork.org/images/stories/PDF/literature/CCHS_Cardiac_Issues.pdf

 

“Minimum heart rate varied by genotype (w2 2df ¼ 6:89, P¼0.03), with lowest values obtained for the subjects with the 20/27 genotype (genotype 20/25 vs. 20/27 comparison P¼0.02, 20/25 vs. 20/26: P¼0.07, 20/26 vs. 20/27: P¼0.2).”

 

“The longest r-r interval was found to be independent of the baseline heart rate as well as the time of day.”

 

“Though longest QTc interval did not vary by genotype, all children with CCHS had at least one Holter with a QTc interval above 450 msec, and the percent of QTc above 450 msec was substantial considering the overall rarity of QTc greater than 440 msec in normal children.”

 

“Though some children may demonstrate staring spells or syncope at the time of the transient asystole, most subjects are asymptomatic. This underlying propensity for prolonged r-r interval may increase the vulnerability of the child with CCHS when exposed to pharmacologic agents or anesthesia.”

 

“The reticence to implant a cardiac pacemaker may be the result of uncertainty as to the clinical significance of prolonged r-r intervals in the seemingly asymptomatic subject, particularly if subsequent r-r intervals are shorter than 3 sec. Because the impact of prolonged sinus pauses on long term neurodevelopment is unknown, and because childhood is such a critical period for neurocognitive development coupled with the overriding risk for sudden death, recommendation for implantation of a cardiac pacemaker in the child with CCHS and r-r intervals of 3 sec or longer seems to be the most conservative recommendation.”

 

·         Abstracts from the 2010 American Thoracic Society, Clinical Policy Statement: Congenital Central Hypoventilation Syndrome http://www.cchsnetwork.org/images/stories/PDF/literature/CCHS-ATS.pdf

 

“Cardiac rhythm abnormalities, including decreased beat-to-beat heart rate variability, reduced respiratory sinus arrhythmia, and transient abrupt asystoles, have been described (9, 101, 102). Seventy-two–hour Holter monitoring performed annually may determine aberrant cardiac rhythms, sinus pauses that will necessitate bipolar cardiac pacemaker implantation (103), and the frequency of shorter pauses (i.e., less than 3 s) that may have physiologic and neurocognitive impact.”

 

·         Statement on Cardiac Pacing in CCHS written by Dr. Tom Keens

http://www.cchsnetwork.org/images/stories/PDF/literature/cchs%20cardiac%20pacing%20keens%203_13.pdf

Pre-K battles

OPINIONS PLEASE:

Our IEP meeting was Friday. It was less of a battle than anticipated but also did not go exactly I had hoped. Wyatt is approved for the full pre-K program from 8-3 at our local Elementary School (where I used to work before he was born) in a self contained ESE classroom with Speech Therapy 2x30min weekly. While the Speech Therapist does not know ASL and didn’t generally seem very supportive of it, she would teach picture communication as an alternative which is also the main communication method used in this pre-K classroom. On a positive note though, the pre-K teacher does know basic ASL and offered to brush up on her skills if I give her a list of vocabulary words we use at home. I think personality wise the pre-K teacher would be a good match for Wyatt and I walked out of the meeting thinking that this could actually work. Basically, they focus on academics and social skills from 8-12, then lunch and nap before going home at 3, all in the same classroom. The issue comes in with the nursing. The district nurse attended the meeting to ask questions and take notes about his condition and to then forward that information to the person in charge of hiring a one on one nurse for Wyatt. What bugged me was that she dodged some of my questions and just tried to reassure me that the nurse they assign to us would be trach and vent trained and we'd meet him/her first. In the CCHS world, with the nurses we’ve been through with a private duty nursing company, just those basic qualifications don’t mean a whole lot. When I asked specifically how we would train a nurse on a condition that no one knows much about she tried to downplay it as he's essentially just a kid on a vent with a trach. I made it clear that I don’t trust nurses because there had been too many who couldn’t handle Wyatt’s blue spells and I made sure everyone in the room understood that the nursing issue is the deciding factor, that we'd be the ones making the decision whether the nurse they pick is a good fit. That part of the meeting didn’t lead to any solutions because the district nurse is not the person who actually hires the other nurses. So I'll have resume that conversation with the person in charge of hiring and training. I did agree with all the IEP goals set and methods used (and we will continue to pursue ASL at home), a one on one nurse and health care plan clearly stated on the IEP. So as of right now, I signed the IEP and submitted registration papers with the school. But nothing can happen until nursing is actually in place. As far as dealing with his daily blue spells, the school is giving us the wiggle room that they would not have to call 911 every time if we have specific doctor ordered perimeters in place that specify when to simply call me vs when to call 911. So that part is definitely good news.

Long story short, here’s my dilemma I’d like some input on. After the meeting I felt like there is a glimpse of hope at normalcy, that this school group setting might help him progress faster and I’d have a few hours of the day to simply focus on my other kids. (Granted I will complain about school traffic and how it will make scheduling appointments harder.) But now that I had time to think about everything over and over again, the fear of health risk vs developmental benefit is creeping in. There’ll be 8 other 3 year olds running around with varying developmental delays, mostly speech but who know what other behavior issue are thrown in the mix. 3 years olds are horrible at basic hygiene and you know there is at least one kid running around with a snot nose every day. Wyatt has always handled colds well but I’m scared out of my mind that it’ll lead to a trach infection. He’s only ever had 2 trach infections in his life but when he had them he was in the ICU completely lifeless. My husband says he could get sick anywhere so it’s a daily risk no matter what we do, he could pick something up at the library or playground just as easily but that reasoning doesn’t make this decision any easier. Then there is the issue of the nursing. In my ideal world, we’d pick the nurse. Practical skills can be taught but it has to be a personality match for this whole scenario to work, for Wyatt to respond well and for us to trust a nurse again. That nurse can’t be uptight about protocols and paperwork and he/she also can’t overreact when Wyatt throws a blue spell. Assuming we can find someone with that personality, how do we train them? I doubt the school district will let me decide how the training should be done. So is it possible to have it be part of the doctor’s order that any nurse who is to take care of Wyatt has to first train with us for one week at home? What perimeters should there be when to “ignore” a blue spell, when to call us vs when to call 911? How often should the nurse do SpO2 and etCO2 spot checks while in school, at least until she learns to read Wyatt’s behavior better? (We don’t do any spot checks at home unless he’s acting strange.) Should he even be on etCO2 monitoring while napping in school? We don’t hook him up to it at home during naps, only at night when warranted but we also can judge his behavior far better to know when things are slightly off… This is so much to wrap my head around. I do want to give it at least a 3 month trial run to see if this set up can work not just for Wyatt but for our whole family but fear is starting to get the best of me. Any practical suggestions?