Wednesday, March 9, 2011

Trying to Figure Things Out

Cooper Knight also finished his fight with Mitochondrial Disease. Two children, one I know and one I followed online, died within a week of each other from a devastating disease. A disease that I know a lot about, but don't know enough about.

I am working on this blog as a way, mostly, for me to figure things out. I started the "Mito Mates" sidebar, and more and more those families are not only learning what it's like to deal with Mitochondrial Disease, but also the grief that comes when a child dies. I'm trying to decide if I should make two separate lists- one for those still fighting, and those who have finished that fight. But like mito, it seems my mind can't easily define one category or another. Some families who have a child who died, also have other family members who are still living who are affected. Which list would I put them in? I even wonder about listing some who are clinically diagnosed, but haven't been able to find a molecular diagnosis yet, but they do have enough tell-tale signs to be certain about a diagnosis that is so uncertain. Since the blog is mostly for me, I have them all in the same list. Though some have this circumstance and others that, they all share a devastating disease in common.

I'm really just rambling right now, but it's been a lot to think about when more little ones are dying or struggling. It makes me think a lot about Dominic and Bridget. Did we do enough to figure out why they weren't growing? Why they had other concerns that the doctors weren't too concerned about because they didn't seem life-threatening, and some of those concerns were easily "explained" by something that wouldn't have even brought mitochondrial disease to the table. I have two children who died, and we still have yet to have clear answers. Dominic died. What caused Dominic's death? We don't know. Bridget died. What caused Bridget's death? We don't know-- Suspected Mitochondrial disease.

Bridget's death certificate says "Hypotonia" is the cause of death. Dominic's death certificate says "Infant Botulism" is the cause of death. But you ask doctors and they say they died with those conditions, but they don't know what the underlying cause for those things were. Botulism could be explained by slow motility. Hypotnia, seizure-like activity (we never had an EEG), failure to thrive, weak cry, floppiness, reflux, difficulty feeding, slow developmental progress... all of the symptoms, doctors say, suggest mitochondrial disease. And having ruled out a lot of other things, they are still left with mito. But we don't have the molecular evidence. And we don't even have all the tell-tale signs. A muscle biopsy on Dominic was abnormal, but in a way that suggested Infant Botulism (which led to this being the cause of death), not mito. Bridget's was abnormal in appearance when viewed during removal, but under the microscope did not have any abnormal results. So even the "golden standard" to diagnose mitochondrial disease could not diagnose it as such.

And then it makes me wonder. Are we doing enough for our living children to figure out what is causing their concerns? Honestly, I am really quite angry with the medical community right now. I'm mad that they didn't seem interested enough in helping Dominic and Bridget before they had their crisis events. And I am very concerned that they aren't doing enough now to help the rest of us. We just get sent through the circle of specialists who find this quirk or that, but nothing of serious concern that has to be addressed (or can be addressed), or without a diagnosis we don't know if the risks of addressing things is too high compared to doing nothing. Everyone points us back to the geneticist who is waiting for the test from the lab he likes to be ready (even though there is a test by another lab already available) and hopes within a year we will have that done, and this will be the test to figure it out. In the meantime, we're just supposed to wait. Like we did with Dominic and Bridget. They send us their reports - Diagnosis: Possible Mitochondrial Disease. And they leave it at that.

So what would I want them to do differently? I don't know. Which is why I try not to be too angry. I do wonder if our youngest son needs some sort of assistance to get more nutrition. I don't like the g-tube idea, but we've done an NG tube with him before, and I wonder if we should do that again. That's really probably about all I can think of, so why am I so angry? So concerned? I would never wish my children to become as sick as so many of these kids who have a certain diagnosis, and yet it seems if we could have some clear markers, it would make it easier to know what to do (or not do). Would it help them to be on the mito cocktail our doctor keeps asking us about? Is a feeding tube a good idea? Do we try something to help with the vomiting, like having Zofran on hand? Waiting to see if our other kids have a crisis event like their siblings doesn't seem reasonable.

I'll point out that both our children who died didn't even live for half a year. That's supposed to make me feel better, because our youngest living child will be turning three this year. The idea is that if this is mito, that our living kids wouldn't have as severe a form as their siblings because they are still alive. If they had had whatever form of mito that the kids who died presumably have, they'd have died in infancy also. This is reassuring, but it also is confusing.

If the prediction is right, that this is an autosomal recessive mito disease and so the disease is then more severe and, if affected, the children will die within the first five years of life, is it still possible that it is mito at all? Wouldn't the other kids who have similar symptoms that their dead siblings have be progressing with "the disease" if it is mito of such inheritance? My limited understanding leaves me with the idea that the disease could be mtDNA inherited, so you have different threshold of mutant genes in each individual, causing the crisis events for our two children who died, but just life-altering and not life-threatening conditions with our living kids. It also would explain why I am progressively having more and more neuro-muscular symptoms (for which I am going through circles of specialists for, with the most recent referral to the neuro-geneticist). The mtDNA idea also can account for my siblings and the variety of similar concerns that are also symptoms of mito. But if it is mtDNA inherited, why didn't something show up on the mtDNA genome tests we did? And if it is, doesn't that mean that onset of the disease can happen at any time during your life, so you need to be aware to avoid triggers as much as possible? Could it be that Dominic and Bridget had triggers (which I suspect) which is why they didn't live longer, rather than that it was an autosomal recessive inheritance? And what if it isn't even mito at all?

It is frustrating being where we are. The "mito community" talks so much about how tight-knit they are. I think that's one remarkable thing about these families struggling with the same devastating disease! Having that kind of support is one of the only ways I think you could get through the unique struggles they face. And yet I feel so lost. I don't know which "list" we belong on. It seems that even though doctors are still focused on mitochondrial disease as the answer to our family's struggles, those who have their diagnosis don't believe it. Our kids don't seem as sick as their kids, and the kids who died didn't live as long as their kids did. So we don't fit. And in some ways, I like that we don't fit. Who wants to share in common a devastating disease? But then, the world of "nothing is wrong with your children" doesn't apply to us either. We know the reality of how quickly death can come and snatch your child. We know the reality of repeated hospitalizations. Of not growing. Of having days where your child, whose peers are all so active, lays on the couch. Of having days when your child just randomly throws-up. Or having months when it is too hot for your child to go outside for longer than 10 or 15 minutes before they succumb to the heat. Or having a list of prescriptions that you wonder if you should have because the doctors prescribed them but don't seem to be following-up on the reasons they prescribed them. Of struggling to even get enough calories in just to keep up, but seemingly not enough to really grow...

Why do I worry so much, though, when our kids "look" so normal. They are improving. Our youngest is no longer using oxygen at night. That's been a great victory to me. I sometimes think that maybe the doctors are right, that mitochondrial disease is the underlying cause of death for Bridget and Dominic, and even for the trouble that our other kids have had. But maybe we're like others who have had spontaneous improvement, essentially able to "outgrow" the disease if you are able to live through the first few years of life. But does that mean that if you have an energy crisis, that you will have a crisis event like Dominic and Bridget had even if you're not showing a lot of concerning symptoms? And as you grow, will you have more return of those symptoms (explaining my own progression of symptoms)? And that does make me wonder again, if we had done more for Dominic and Bridget, would we have been able to get them through until they could somehow overcome this (whatever this is) also?

I don't know why we don't have better answers. It seems like a waste of time to try to figure it out when all the smart doctors and all the tools they have can't give us answers, and yet for some reason I'm back on high-alert. It's the same sense of urgency to figure out what was "wrong" when I was taking Dominic to the doctor weekly, sometimes as many as three times a week (like I did the week he had his crisis event). Or when I was so concerned about why Bridget was having the same kind of lethargic episodes that Dominic had had, why she was struggling so much to eat, why she had such a big soft spot on the back of her head, why her jaw was falling back more and more as if she didn't have the strength to even hold her mouth in place, why she was twitching (even rhythmically at this point), why she breathed so shallow that it didn't even appear she was breathing at all.... all the things I pleaded with the doctor to see the night before her crisis event. Then realizing that a woman I serve on a committee with is the wife of one of the pediatricians who worked with Bridget, but was so focused on "protocol" and "policy" and "procedure" so that he didn't at all consider the idea that sometimes children don't fit into their neat categories, resulting in more complications for Bridget in the NICU... okay, so I did mention I'm very angry at the medical community. So this realization made all that frustration rush to the forefront again. Without answers to help put it all into perspective, it has been quite draining working to keep all these things in check.

I will continue to hope for answers, and do what I can to find them. One day, I hope to know and not just have to guess. I hope the price of knowing isn't another funeral. I hope we are able to figure things out to have the best care possible for whatever it is we're dealing with (or not dealing with). I will continue to work on raising awareness for Mitochondrial Disease. If we can improve testing and bring more prompt diagnosis to those affected, then they can have a more clear plan for care. If we can accelerate discovery from research to find effective treatments, we can improve the quality of life that someone affected has, and maybe even prolong their lives. If we can find effective treatments, we will be even closer to finding a way to stop the devastating effects of the disease, or what everyone hopes for - a cure. And in all of that, it seems it will result in answers for those of us still unsure. A way to more easily diagnose, but also to be able to rule out, mitochondrial disease.

Thursday, March 3, 2011

Soon to be official - Mitochondrial Disease Awareness Week in Utah!

Maggie Agnew passed away on Saturday night. The anniversary of when Samuel McCluskey passed away is coming up in a few weeks. So many children have passed away from Mitochondrial Disease-- like Samuel Knight, Gavin Owens, Piper Younglove, and Abby Halford.

Mitochondrial Disease is devastating. Hearing the news that another child has passed away is devastating. It all makes me feel so helpless.

Yesterday we got the reports from seeing the specialist a couple of weeks ago, and it still just says "Diagnosis: Possible Mitochondrial Disease." There is still no real answer as to why Dominic passed away, or why Bridget passed away. And no one knows really what to tell us about the rest of us. They keep doing this test or that test, and now they tell us just to wait for the next test to be out. I can't help but to be frustrated, and already having had to bury two children knowing that if it is mito, and we don't know, but it might be mito, I just want to do everything I can to make sure we do all we can to keep my from having to bury more. If it is not mito, I sure would like to figure out what we are dealing with to know if we're doing all we need to be.

So when I got home from the dentist this morning, after just picking up funeral programs, I was feeling so discouraged. Then I saw the update about the Resolution we submitted to the Utah Legislature for consideration during this session: HJR35 has PASSED! Now it goes on to the Governor!

To all those who have contacted legislators, forwarded this request to friends, etc - THANK YOU for all of your efforts to help with HJR35: Utah Mitochondrial Disease Awareness Week Joint Resolution.

HJR35 has passed both the House and the Senate, signed by the President in the Senate and the House Speaker and is now on to the Governor! This means Utah will have an official Mitochondrial Disease Awareness Week in September, unless Gov. Herbert vetoes it. The Governor has said he is hoping to avoid any vetoes, if possible, and I am told by those working at the legislature that it is very likely he will sign this! So if you want to make a quick call up to the Governor's office to kindly ask him to sign this bill ASAP, he can feel more comfortable that we're behind him when he signs this and makes it official.


You can send a message online from his website, if you'd prefer.

Here's the list of passed bills. Once the Governor signs it, there will be a date listed for that.

I know that having Sean and Michelle Agnew bring Maggie to the legislature made a real difference, and made an impression on the legislators about how devastating this disease is. Many have told me how much an impression Maggie made on them. Knowing HJR35 results in an official Mito Awareness Week seems to make Maggie's efforts in her last days of life that much more amazing. She is a real hero who made a difference in so many ways during her short life.

For Maggie Agnew, Samuel McCluskey, and so many others who have already fought their fight, I will keep doing what I can to help in the fight against Mitochondrial Disease. I invite all those in Utah, and anyone reading, to participate in the upcoming Energy for Life walk, and with other activities to commemorate the Awareness week, Sept 5-11, 2011.