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.