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?

IEP evaluation frustration

Venting, that’s the reason I originally started this blog. To set the thousands of thoughts running through my head free and hopefully end up with some sort of clarification or relief. So here we go.

Today was Wyatt’s IEP evaluation. In Osceola County it’s called the PEEP program which is just a fancy name for the school district’s early intervention program that the child can transition into once they turn 3 years old. Wyatt had a few speech therapy sessions here and there through the Early Steps program, which is for ages 0-3, but they were never able to find him a speech therapist who was fluent in ASL and at the time, Wyatt also wasn’t very receptive to therapy sessions. He simply passed out when he didn’t want to participate. So here we are 3 years on this journey and we have to put him through yet another developmental evaluation. Just for the record, I hate those evaluation! Yes, HATE them with a passion! The questions are very generalized and don’t leave room for more elaborate answers. It’s mostly a score of 0-4 on how well he performs a task and the parent has to answer a lot of yes and no questions regarding his abilities compared to what a “normal” 3 year old should be able to do. I have several issues with this type of testing. For starters, the questions do not differentiate between communication vs. speaking. That’s a big deal for a child who is non-verbal. Just because Wyatt does not speak that does not mean that he is not communicating. Therefore, a simple yes or no option for an answer is not sufficient. That’s a big issue and can falsely alter his score. Second, halfway through the evaluation Wyatt lost his patience so cooperation at that point was a problem. There were definitely some tasks that I know he can do but he simply didn’t feel like doing them at that time. The darn evaluation did take 2 hours to complete and what 3 year old has patience for that. And then there were questions that I didn’t even know how to answer. I was asked to specify the different sounds he makes. I don’t freaking know, they are just sounds. There are no actual words and the sounds are not specific vowels that fit nicely into the printed test booklet criteria. But there is a difference in pitch depending on the situation. Those type of things can’t be explained to an evaluator who has never met Wyatt and will probably never see him again. So the whole time I felt like we’re portraying him as this mentally retarded kid when in reality the things he will and will not do primarily just depend on his mood and comfort level with the person who is asking him to do these things on command.  I did request an ASL interpreter to be present during this evaluation to see for myself how well he can be understood by someone who is fluent in ASL since that is his primary mode of  communication. While this was very valuable information for me, it was also very depressing. The interpreter was only able to understand 3 signs Wyatt used. His signs are still too modified and would not be understood out of context. So if he was asked to look at a picture and point to the ball and would then sign the word ball, the interpreter could understand. But if he did it out of context it would have been misunderstood because his fingers are not pointing the right way and his wrists touched. So that information was very important for me to know but it was also very frustrating at the same time. It actually makes me very angry because I have been practically begging for help with ASL instruction and have been ignored for the last 3 years. Everything he knows at this point, though it may only be understood by immediate family, was because of the effort we put in. We’ve have been working really hard to get him to where he is today, to allow him a form of communication that cuts down on his frustration level and therefore his tendency to pass out. But based on this evaluation, outside of immediate family, Wyatt basically has the communication skills of an infant. He taps a person’s leg to get their attention, he point at things he wants and he uses facial expressions to show emotions. As far as getting services approved for him I could look at this result as favorable. Having the worst case scenario on paper sure is helpful. But as a parent, it’s devastating to look at such a comparison. All the hard work we’ve put in over the last 3 years seems like nothing on paper when compared to a “normal” 3 year old. Wyatt has come such a long way and we have made huge progress in our eyes but that progress is so small in the context of a developmental evaluation. I almost wish I wouldn’t have put him through this comparison again. I have such a hard time coping with this information. It took me a very long time to accept who he is and to stop comparing him to the “normal” 3 year old. On a daily basis, I can now happily look at who he is as a person and enjoy every little accomplishment. But when we have to jump through the necessary hoops to get him outside help it’s like a slap in the face. That’s why I HATE this entire process. I don’t ever want him to feel like he’s not good enough. I know he will do all those things eventually in his own time. I hate being pushed into the mindset of having to fit some sort of norm. But as a parent of a medically challenged child those are the uncomfortable steps in the process you have to put up with if you have any hope of getting outside help. Simply put, IT SUCKS!  So, this evaluator will now type up his report and then it gets sent off to a bunch of other people up the ladder to decide what services he qualifies for. That can be anything from nothing at all, to just speech therapy at the local elementary school, to a full school day with all therapy services included. But for that decision to be made could take another 2 months as the school psychologist who administered the assessment warned me. When that meeting is schedule the real battle will begin as to what the school district will offer vs. what we want. It’s very frustrating to fight so hard to simply get outside support. It’s been 3 year and so far this fight has gotten us absolutely nowhere. I’d rather just know once and for all that we’re on our own, as we have been so far, than continuously jumping through these hoops without any results.

continuous brain damage in CCHS

The information below was taken from the CCHS Family Network Facebook page and sums up the researcher's findings and recommendations. Even though this information is not new to us, I am posting it here because family and friends may not be aware of these findings. I marked one aspect in bold as it specifically applies to Wyatt.
For the specific research literature, please refer to the CCHS Network Website here http://www.cchsnetwork.org/literature

Dr. Ron Harper, PhD., UCLA, Los Angeles.

"There certainly are better terms I could use rather than [brain] "damage." However, there is no getting around the findings we have; the mammillary bodies lose more than half their volume in some subjects, and that certainly would include cell loss as well as supporting tissue. I showed slides indicating loss of fibers from various structures, including the fibers of the fornix from the hippocampus to the mammillary bodies, the corpus callosum, especially in the posterior corpus callosum, and fibers from the pons to the cerebellum. I also showed injury to the cerebellum, the insular and frontal cortex, and the cingulate cortex, with the injury indicated by both tissue loss and fluid exchange between cells, which is indicative of damage. The cerebral cortex also is thinner in several areas than controls. All of these findings are published in peer-reviewed manuscripts in very high quality journals. Some do not like the phrase "damage." However, it would be a huge mistake to close our eyes and pretend it does not exist; we have to stop it. I tried to focus the talk on the issue that, although we know the injury exists, much intact tissue remains, and we have to make use of that intact tissue, and retrain it to acquire/take over lost functions, and that we have to do everything we can to protect against further injury.
I noted at the conference that a number of the B vitamins, especially thiamine (B1) are flushed out by the profuse sweating and malabsorption in CCHS, as is magnesium (equally important), and loss of those nutrients would lead to further injury, even if ventilation is adequate, but especially if hypoxic episodes occur. It is certainly valuable to know if the CCHS kids are magnesium or thiamine deficient, and to take remedial intervention [i.e. taking vitamin supplements].
Meanwhile, the cause of the [phox 2b] mutation remains unclear."
(RH 7/11/14)

Making sense of things

After another typical evening of fighting with Wyatt to go to sleep, my husband asked if I saw the post on Facebook in the CCHS support group. Another child with CCHS has died. This time, it was a 9 month old girl who lived in Florida. Though I sometimes browse through the posts within the support group, I’m not nearly as involved as I used to be when Wyatt was younger. I clicked on the name to see a picture but I didn’t even recognize the family. I distinctly remember that age, the struggles we went through with Wyatt back then that make today’s struggles seem minimal, yet no less exhausting. This news came after a day of 15 breath holding episodes caused by a 3 year olds tantrum. 15 times yesterday I had to go into emergency mode to make sure he didn’t die. 15 times yesterday I had to use up all my mental energy to not give up on him when he refused to leave his life support on at a time when he needed it the most. 15 times yesterday I asked myself when this fight will end. And then I hear this kind of news. I couldn’t sleep all night. My mind kept circling around the thought of not being able to save him after one of his tantrums. How would it affect me? Would I feel guilty for not having done something right to bring him back around like all the thousands of times before within the last three years? How many times in the worst of days have I questioned whether it would be better just to let him go? Would I be silently blamed? How would the rest of the family cope, my husband, his brothers, and his grandparents? Would it be a shocking surprise or an expected outcome always lingering in the shadows? Either way, none of us will ever be the same people again we used to be three years ago before Wyatt was born. Our perspective on life has changed so much; there is no rewind button to the once idyllic world. This struggle has changed all of us forever already, I can’t even imagine what would happen if we lost the fight. Through the inevitable pain, the daily battles would disappear, the medical equipment would be returned and eventually we’d all move on in a less medically involved world. But would it really be any easier? Then my mind wondered off to the question of why it seems that so many children, and even adults, with CCHS have died in the past couple of years. Are these negative numbers really going up as I perceive it or have we simply gotten to hear about more people living with this condition so any loss seems more personal now? After all, adults and children of all ages and all health status die every day and we pay minimal attention to it – unless their deaths have some sort of a personal connection to us. The CCHS group has certainly grown in numbers despite the relative low number of know cases worldwide. Therefore, a death within this small community seems shocking and magnified in proportion. So I guess it’s the personal connection that hits home. A death of a child that young also reminds us that the odds are against us proportionally to the number of CCHS cases worldwide, and it is really a wonder we haven’t lost our own personal fight yet. Such news brings gratitude but also a reoccurring fear of the unknown number of days we have left. Personally, hearing such news makes me not only want to leave the support group to avoid further anxiety but also want to delete my Facebook account altogether and live real life instead of the virtual one we are all so attached to these days. For one, it makes me realize that I often know more about the lives of people I have never even met vs. my own family who generally speaking has never been very good at sharing or keeping in touch. Yet what I do know about all these virtual people is mostly insignificant. I often get the impression that most of us share things online to get an immediate response so we don’t feel so alone. We either blow off some steam, post our competing accomplishments or over share out of boredom. I think it’s sad that a Facebook message is often the first source of contact rather than picking up the phone or even sending an email. Maybe it’s the instant gratification we seek since most of us receive immediate alerts on our smart phones and therefore expect just as quick of an answer, a relief from our loneliness. Regardless, I feel shame for not actually knowing the family who lost their 9 month old daughter yesterday and who was in the same online support group as we are. I can’t even presume to understand what they must be going through right now. But what I can relate to are the struggles they went through since their daughter was born. Even though we all search for circumstances that are far worse than our own to make ourselves feel better, and therefore in comparison to other medical challenges most of the CCHS kids live a relatively normal life, the battles all CCHS families face are very similar and simply exhausting. Out of respect for the family who just suffered a loss, the question no one wants to ask now is “Why?” Why did this little girl die, or any of the other CCHS kids before her? Was it a spontaneous prolonged sinus pause which caused her heart to not automatically beat again – my worst fear and one of the major risk factors associated with CCHS? Were there other medical issues that her little body couldn’t cope with anymore? Or maybe it was life support equipment failure? In my mind, I need an explanation to make sense of it all. But I fear no amount of detailed explanation will ever put my mind to rest. I will forever wonder whether this daily fight is worth it in the first place. I will forever question the ethics of anyone living on life support. I will always fear that Wyatt one day will decide against this life and I wouldn’t even be able to argue with him. I will never get the reassurance that saving his life day after day, sometimes 15 times a day, will eventually bring some sort of a reward or reasoning. Therefore, I sometimes envy people who have faith that there is some sort of a big picture to live up to. I’m too factual and practical for that kind of thinking. And although faith and I do not agree, I often wonder if faith-based people have an easier time coping with life’s unanswered questions and challenges. Whatever the case may be, I hope this particular family can forgive me for not supporting them more in their all too familiar daily struggles, and that they can find strength in the memories they shared with their daughter.