Tuesday, July 12, 2011

We Can't Go Back - Let's Go 4ward!

About this time last year, I committed to co-chair Utah's first Energy for Life walk. I was inspired mainly by seeing that North Carolina was doing a walk, and as I watched updates about Team Saving Savannah on one of our mito mates' blog, I wanted to do something here to make a difference. I focused first on having our state legislature pass an official resolution designating the first full week of September as Mitochondrial Disease Awareness week. Then we got started on the crowing event of that week.

Last week we had our kick-off party. Our state did not even have a UMDF group last year, so it was hard to know what to expect. But it was amazing as families from our community came together, all affected by mitochondrial disease. Some of us have buried children from this disease. Some of us are caring for children, or are affected ourselves. It was just a touching experience to meet people we had never seen before but felt so much like we already knew each other. I was sad knowing that the reason some weren't there was because their child was in the hospital again.

The blog that inspired me to get started with all this in our state just recently posted about Savannah's upcoming 3rd birthday. She included many pictures of people affected by mito, including Dominic and Bridget and two of our other kids. We are all working to raise more funding for UMDF. Will you consider making a donation?

Our family started a team, and I will say it was an emotional thing for me finding a suitable team name. We have two children who died. And others of us are being evaluated for possible mito. If you've read much of my blog, you'll know we still aren't sure exactly if we have mito in our family. But that is the biggest thing that keeps coming back as we rule other things out, and tests point in that direction. So I needed a team name that could help to remember Dominic and Bridget, and also include all of us. Our name isn't as cute and concise, but we ended up with 4 Dominic, 4 Bridget, 4 Us, 4EVER.

Dominic is our 4th child. Bridget is our 4th daughter. On Monday, it will be 4 years since Bridget's birth. I know I don't have a lot of blog readers, but I'm hoping to have at least 4 of you go to our team and donate $4. It's 4 those who have already succumbed to mito, and 4 those who are now coping with this disease in their lives. It's 4 the future so that we have better testing, better treatments, and eventually 4 the cure.

Friday, July 8, 2011

Birthday Wishes

I hesitate to post, because this information is not on the blog yet, but Eithene celebrated her fifth birthday early because mitochondrial disease was progressing so quickly. Today she took her last breath. My heart aches for her family. Even in faith, it is difficult to send your little one off into the eternities while we are held back in mortality. I do not understand these things at all. I do not understand why children suffer or die. Prayers go out to her family.

Nearly four years ago, we welcomed our 7th child into our home. Bridget was born a little early, and spent 10 days in the NICU before we brought her home. She continued to have difficulties at home, but we weren't sure if that was normal due to her prematurity. We were very worried about her, and especially because the difficulties she had resembled what we had seen with Dominic. And then she had the same crisis event, and died just like Dominic. On July 18th, Bridget would be turning four.

We never have had a birthday party for her, although we'd already been planning her first birthday. I was trying to take a picture every day to create a slideshow for her big bash to show all who came to celebrate how quickly she grew and changed. I am so grateful for my diligence in taking pictures, although I did miss a couple of days, and we didn't get to use them for the reason I'd taken them.

So Bridget's birthday is soon! She'd be turning 4. I want to have a celebration of sorts for her life. A way to honor that her life, though brief, had a purpose and that she continues to have an influence here, she is still very much loved, and she lives (though we are separated by time).

We believe Bridget died from mitochondrial disease, but must wait for improved testing for a genetic cause of death. Would you donate $4 for her 4th bday to help our 4 Dominic, 4 Bridget, 4 Us, 4EVER Energy for Life Utah team raise funds for research to give us more understanding? If you'd like to donate just click a team member's name on the site, then click the "Donate" button on the right hand side of that page.

All of the money donated goes to the United Mitochondrial Disease Foundation. This organization has funded more mito research than any other organization outside of the government. They are a non-profit 501(c)(3).

We have had a whole lot of appointments with specialists lately. There is a whole lot more coming. And I am not ready to update on all of it. More and more, though, it seems important that we have better testing, effective treatments, and more understanding about mitochondrial disease. I hope that if you are able to help us in this way that you will be part of Bridget's birthday
celebration this year.


Monday, June 13, 2011

How Many Roads

The blood gas that we did was absolutely normal. I love that the doctor calls directly. It's nice there are still doctors, a specialist even, who takes time to talk to the family directly, and not only when it's bad news. An absolutely normal test result, and she took the time to call to let us know! She hasn't gotten the holter monitor results (we were too late on Saturday getting to UPS, so it just got shipped back this morning), and she'll keep watching for that and let us know.

I am actually happy this time for a normal result. I think sometimes I wish for abnormal results because it will help us better know what the problem is. But this test wouldn't really tell us what was causing a problem, just that there was a problem. So it's good that we don't have this as a problem.

I read the news about Edison Pharmaceuticals EPI-743 getting Orphan Drug Designation, which expands access to this medication which has shown promising results to kids with Leigh's disease. Leigh's or Leigh-like disease is what Bridget's autopsy shows as a diagnosis. We have not done enough genetic testing to know if the known disease causing genes are in our family. But this study has me wondering if we should do more genetic testing.

Dominic and Bridget had sudden crisis events after weeks of seemingly mild symptoms. Apparently, this is not an uncommon presentation for Leigh's. The other kids we're most worried about have very similar symptoms to what Bridget and Dominic had. I mostly find reassurance when we look at other blogs about kids with mitochondrial disease because our kids aren't that sick. But as soon as I think about how not that sick Dominic and Bridget were, I don't feel so reassured. I try to reassure myself because Dominic and Bridget were infants when they died, and our youngest is now 3 years old.

I can't say how many roads I've been down trying to find the answers for our family. It's been about a decade now without really any progress. I read things like this then go searching through the gene testing we have done to see if I can understand it and if it relates at all to our family's results. I don't even know what fulminant means, and I will probably go look it up to find out, but may not remember next week when I read another study with the word. I used to be able to keep all the medical terminology in my mind and recall it, but with so many years and so much reading it all just blurs together now.

I am going to try to learn more about Leigh's disease. I am told perhaps even my older children are susceptible to a sudden event like Dominic and Bridget had, even though their symptoms are not as severe as kids with mito on so many of the blogs I read, and even though my kids are getting older now. I just want to see if there's enough going on to really look at the genes that the EPI-743 study recognizes as causing Leigh's so that if those genes are in my family, we can have the best chance at keeping everyone as healthy as possible.

But really, normal results just are the best kind. I will be very grateful if we can get to the end of all the questions and end up with an answer that explains Dominic and Bridget's deaths while removing concern that we're more susceptible because of genetics. I don't want to lose any more children, or maybe grandchildren. It's very painful to bury children. I am still struggling very much with this heartbreak. Tonight, I am grateful for normal.

Friday, June 10, 2011

A Few Things

Yesterday we went to neurology with the two youngest living kids. Generally, their appointments were normal neurological exams. There was some weakness noted and some question about seizure activity. So we're going to do an EEG on our youngest, and an EMG on our youngest son. We'll also take our youngest son to a special care developmental pediatrician. It is to look at the autistic qualities he displays, but also to look at the feeding issues, lower energy, gross motor skills, etc.

I did ask if we're dealing with a mental illness (one of the findings from the mtDNA test we had noted that it could be related to mental illness) because some of the things we're seeing with our kids really worries us. We were told that some kids with mito do some really strange things, and they didn't feel we needed to be thinking there's a mental illness. It's confusing to me hearing answers like that, because I am not sure if they are saying they believe our kids have mito or if they are saying that if it is mito that the strange behaviors/episodes are connected to that (but then what is going on if it is not mito). Mitochondrial myopathy just kept getting tossed around, though. I think it's just that there isn't anything else really sticking out, and it is something that is a legitimate possibility.

We went to the lab to do the blood draw the pulmonologist wanted. Neurology had no other labs to add. It was just a capillary blood gas, so I thought that was better than going to a vein. But it really upset our little one more, because they have to push and push and push. She cried a lot, and the really sad kind of cry like why am I letting them do this. She had to leave her bandaid on, and wouldn't let us even touch her hand all day.

Next, we stopped in at cardiology. They had the holter monitor ready, and got it put on. She's wearing it now, and we will keep it on until tomorrow to return it. There has been some different discussions about dysautonomia, so hopefully this can tell us if that's a problem. Neurology told us that Vanderbilt is doing a lot of research studies in that area. They told us that if the holter monitor showed dysautonomia, we might consider going somewhere like that where they are able to do the really specific testing. But if the holter monitor is normal it doesn't really give us any more information. So am I supposed to want a normal or abnormal result?

It was interesting at the appointment. I think doctors try, but it's just frustrating not having anything to really pin down and see what is going on. They didn't have an answer for the way our youngest's head is growing. They asked if our genetics doc had any suggestions. That is how it goes. Neurology told us that our biggest concerns about our youngest son need the GI (yeah, doing that) and when we were at GI, he made it seem it was a neurological thing (like autism or sensory) or a behavioral thing. They all just ask what the other docs think, as if it's not their job to think about it.

The whole genetics discussion was interesting, too. Of course, the same thing was said about how the testing is going to be coming out soon, but not really fully available yet. They pointed out how the features of these two are so similar - and there are a lot of similarities (but some distinct differences I think perhaps were overlooked). I asked a little about what it means about the similarities, and the idea is just that they both seem to have the same underlying component from the genetic aspect. If my memory is right, the way we look can be a phenotype, but so far there is no genetic condition that these features have brought to mind yet. A far-stretch that was mentioned was Russell Silver syndrome, but no one really thinks that is what it is.

Well, anyway, I hadn't gotten my hopes up too much. They did explain that though some of the tests from a couple of years ago like the MRI and MRs and EEG had things that were "interesting findings" that in an overall view they were "normal." So the confusion we have with some docs saying they're normal while others say abnormal all have to do with how fussy the doc is about the results, I guess. I don't know how to interpret things myself, so I am just trying to assume no one is overlooking things by not being fussy enough.

Today, we tried to just take things easy. Yesterday was exhausting in so many ways. Going to the hospital where our children died, seeing the docs that were part of the care of those children during the crisis...

Okay, well the happy thing is that we are celebrating a birthday! Today we just tried to enjoy that though we were very uncertain if we'd have the chance to even celebrate one birthday with her, she is still here to celebrate! Honestly, it's not something we take for granted. I am just very grateful, and if I was the one who got to pick her birthday wish today, it would be that she would have decades more full of birthday celebrations.

There is another little girl I wish I could give those decades to as well. But her parents are going to be celebrating her 5th birthday early, because she likely isn't going to live long enough to be here with her family on that special day. You can send a card to her and her family:

Cards and flowers can be sent to:
Eithene Hilliard
Children's Hospital Boston
300 Longwood Ave
Boston, MA 02115

Sunday, May 29, 2011

Just Me

I had two people message me about my last post. It wasn't meant to be directed at anyone. It wasn't meant to confuse. I really feel bad if it caused any concern.

It is all just me. Just trying to figure things out. That's why I started the blog, because we don't have a definite diagnosis to explain why two of my children have died, or whether or not that has anything to do with the variety of quirks the rest of us deal with. Mitochondrial Disease keeps being what is given as a good possibility. Lots of other things have been ruled out. But we still don't know.

A couple of weeks ago, I was able to meet with Chuck Mohan of UMDF. I introduced myself as someone who is still unsure whether mito has affected our family. I explained a little background, and expressed interest in wanting more research for the selfish reason of having a way to better be able to either definitively confirm, or absolutely rule out, mitochondrial disease in our family. He addressed the introduction, and noted how so few families with a clinical diagnosis will have the molecular/genetic key. He was quick to point out that his experience personally, and with UMDF, was that those who have that are the minority.

Part of me accepts that mito is a really likely diagnosis for our family. But I also think that the symptoms I have myself, and even that the kids have, are far too mild to really be mito. In discussions we've had hypothesizing about inheritance for our family, it is suggested it would be autosomal recessive. This would explain why Dominic and Bridget were so young when they died, and why the onset was sudden. But even when I read of other kids with this inheritance who also died as infants, it seems they were so sick that they were hospitalized or at least having a variety of testing to help figure things out before they died. Both Dominic and Bridget had more of the mild problems we are seeing in our family right now. Nothing that really got a whole lot of flags raised. And even after their deaths - and extensive testing and autopsies - there still is no clear constellation for what happened.

For others who have a more clear idea, even without the genetic evidence, there is certainly going to be a more clear answer to whether or not medical interventions are necessary. For my family, we are really gambling. If we assume there is an underlying potentially life-threatening condition, and we choose to aggressively react to things, we have the risk of getting tangled in medical interventions that even if we had a sure diagnosis may be too imposing. And with or without a diagnosis, there seems to be prudence in looking at each individual circumstance and making a decision on what is going on now - not what we think is going to happen later.

My husband and I disagree a lot. When it was strongly recommended that our youngest have a G-tube placed, I didn't like the idea but also felt it could be helpful. My husband was 100% (really 150%) opposed! He didn't think she needed it at all and that it was just insane that it was being suggested. Of course, since I had some reluctance and he was completely unwilling to consider it, we didn't place the G-tube. And now about a year later, hindsight is that he was probably right. She didn't really need it. She has gained about eight pounds this year. She's also grown a few inches.

So it is hard for me to stay in the present, when the past teaches us both that we were not aggressive enough and maybe too aggressive, at least potentially, also - and there is the future of consequences to think about. If we choose poorly, our children will suffer. And we have the responsibility to do the best for our children.

Grief makes you second guess so much, because you wanted to do the best for your children all along. So why did my son die? And then why, WHY would my little girl die six years later? I have vivid memories that haunt me, fighting in a care meeting about Bridget's hospitalization and whether it was appropriate for her to go home or not. We had already gotten discharge papers from the doctor, but the nurses would not sign off on them from the hospital side. I was livid. I was sick of that place, and felt like she should be home with me. The natural side of me felt the hospital environment was just making her worse and at home she would have a more peaceful environment to help nurture her growth and development. I distinctly, clearly remember my tearful declaration: "I've already buried one child! I'm NOT going to let Bridget die!" Somehow, I was convinced that because I had been through it with Dominic, that I would know what to do and when to do it if Bridget needed anything. So why did I miss it (whatever it is)? Why didn't I get her the help she needed before she went into that crisis event that led to her death?

The reality is, I didn't know and I don't know the best way to make sure that we are doing what we need to in order to help our kids be the most healthy. I don't know if the decisions we made then added to whatever it is that took our kids' lives. If we had done things differently, would they have still died? Would they have died sooner or later? Would they be healthy, or have suffered from whatever it is that took them? I am unsure if what the kids who are still living are experiencing have any consequence to their long-term health, or if it's just a temporary difficulty that we can address and then get on with a more healthy future. I don't know if my symptoms are stress-induced or from a true underlying physiological condition. I really don't know.

What I do know is that it isn't good to have some of what is going on happening. Whether or not it is from a bigger condition or it is just its own little isolated problem, it needs to be addressed. And I know I'm really trying my best to look at all sorts of possibilities for the best way to respond. I have an internal struggle between feeling like I'm rushing to the doctor for every little sniffle, or over-reacting because of my fears - and on the other hand, feeling like I'm avoiding it and distancing myself into denial so that I don't have to face any likelihood of another scary answer being given. I vacillate through cycles of wanting to do every test and try every treatment even if we don't have a diagnosis and wanting to have absolutely nothing at all to do with doctors and the medical community ever again.

So my posts are just my way of working through all these feelings along with the current place we are with things. It isn't meant to be a judgment about how others address their situations, or don't or didn't. I don't have bad feelings toward anyone who has given me advice one way or another - and actually, I very much appreciate others being willing to give me suggestions, insights, and advice. So I just wanted to clarify because I don't want others to misunderstand. It is difficult for anyone, whether diagnosed with mito or not, to know - absolutely know - what to do. And so I hope that others understand a little better where I'm coming from.

Friday, May 27, 2011

This, That and Whatever It Is

As far as doctor visits go, pulmonology was a great visit. We discontinued the oxygen compressor at night, so I've called to have them come and pick that up. I was surprised when my husband asked what we would do if we needed it again. He was always critical of having it in the first place, and even questioned a few times if we even needed it, so I was surprised by the question, but the doc just said she could order it and have it sent out immediately if it came to that point again. So I am very excited to not need to worry about this. Honestly, I haven't been worried about it for a few months, anyway. But I was worried that the doctor would disapprove. I don't know why that concerned me, but it did, so it was a relief to feel like my feelings were consistent with the doctor's.

I just have to say this doctor is the doctor that gives me hope at all in the medical community. Completely opposite of how I felt leaving the last appointment with GI, I felt like this doctor not only took the time to listen to my concerns and thoughts, but also had taken time to review records, and made observations of her own. It was nice to feel like there really is a doctor who cares, even though she also tells us that there isn't anything to clearly tell us what is going on.

Even though we didn't feel we needed the oxygen anymore, we have been very concerned about shallow breathing episodes. Both Dominic and Bridget would breathe weird like this. And it has really freaked me out, to be honest. But we never had the pulse oximeter with Dominic or Bridget. We have with our youngest, so we were able to see that even if she was breathing very shallow, she would keep her sats up. They would drop from her normal, but only a couple of percentage and still typically in the 90s. So though it freaks me out, I was okay to wait to talk with the pulmonologist about this.

Another thing that is new is since the end of February, she has just had a constant cough. It mostly gets worse at night. It was really bad for about a month and half, but the last month and half it is improved. But still there every day, and still will wake her some at night. It is a raspy kind of cough. She hasn't been ill. But she has had more audible reflux, and I believe that is what has caused the cough. We have an older child who had this same cycle start (although she was a little younger when it started). We didn't know what was going on, and it took about a year and half to finally figure out it was reactive airway disease - by this point quite progressed. So I was worried about what to do to make sure it doesn't get that bad with our youngest.

We talked a lot about many other concerns, not directly related to the respiratory questions. We looked back at some previous testing. Then we got a plan. The doc increased her dose of prevacid, and we'll see if that will help improve the cough problem. The shallow breathing was a concern. She said typically it is something she'll see if someone has lung disease, and we are not concerned that we're dealing with lung disease. Even if we were, the shallow breathing is intermittent, unpredictable as to when it will occur (lung disease would mean it would be constant). The doc said that she does see the funky breathing stuff with Leigh's encephalopathy.

Now, it surprised me to hear her say that. We still do not know if mito is part of our family picture, but Bridget's autopsy lists a diagnosis of Leigh's or Leigh-like syndrome, based on brain pathology. I don't understand if our youngest could have the same thing or not, because she is doing pretty good overall - but has these quirks.

But we have an appointment with neurology next month. So the pulmonologist feels he will likely want to do a repeat EEG. And if so, he may also combine it with a sleep study. The pulm wants to do a blood gas to see if the shallow breathing is resulting in CO2 problems (I don't really understand this, just trying to remember what the doc said). So if neurology wants to do labs, we can do it with those labs. Otherwise, she gave us the order to have that run.

She also wondered about Dysautonomia. When we were there, she asked us if we had noticed what she was observing with her pupils not dilating. Actually, we have and it is even more pronounced in her brother we are worried about. We thought it was weird, but the kids don't seem to be bothered by it. Anyway, I think that is when she also talked about Dysautonomia. Well, I had listened to a lecture by Dr. Boles about this topic and how it relates to mito. And after listening, I felt it was amazing how it seemed to hit on a lot of the struggles our family has. Well, she feels it would be a good idea to do a holter monitor for 48hours. She thinks that perhaps the shallow breathing or some of the other things could be explained by that test, so we're going to do that. She'll have to order it, but we just do it at home and send it back.

I just really do like this doctor. I like that she's cautious, and tries to avoid tests if they are unnecessary. I like her insights about how some tests aren't even as helpful because just the testing itself is a physiological stress, so it makes the results unreliable sometimes. I like that she is okay with my reluctance to be too invasive. But she also really took the time to look at the whole picture - not just the respiratory issues - and observe, and look through records, and help on the individual level instead of being prepared with a pre-printed planned protocol. She seems to be thorough enough that even with my reluctance to do too much, that we aren't really overlooking important things, either.

So pulmonology was a good one.

A follow-up on GI:
We did do the whole flush out. Things went through, so I guess it was successful in that way. But we have had a few vomiting episodes since, poor appetite is still the same, and we are still needing to use the miralax. We increased to a whole capful instead of 1/2, and that seems to be working better. I don't see any improvement, and I am no less concerned about my son now than I was before going to GI. We will be going back in about five weeks, and I hope this time there will be less frustration and more insight on how to help.

Now some introspection:
I have had some real moments of clarity lately about how much I wish I didn't have kids who had struggles, and so sometimes I just go on with life as if nothing is wrong. But there are things that are presenting that just make it clear that whether I like it or not, there is something different about my kids. I hope nothing life-threatening. But we still don't know what is underlying. And that part scares me too much.

I think my biggest struggle right now is trying to determine how much or how little to do for my kids medically. I don't want to overlook things and push them to do more than they should do, and have it impact their health negatively. But I also don't want to assume they have a condition that we would find out later they do not, and therefore hinder their progress with restrictions that were unnecessary.

I fear most the regret of not doing enough, and having them die. I have buried two children! I can't express the heartache of this! But I keep telling myself that there is also a terrible regret in not letting them live! So what do I do?

When I got a call today from the metabolic clinic, I was surprised. It was to ask if our information could be shared with another family in the area who wanted to do a fundraiser for mitochondrial disease. Well, it made me wonder. This clinic has not given us a definite diagnosis of mito, but it keeps coming back to that as the explanation for our kids' deaths and even as the underlying reason for the current health struggles in our family. In a way, having them call me to ask this made me feel like they had put us in the "mito community." It felt like I was given permission to accept this as the diagnosis. And yet, in the "mito community" I feel like people think we are imposing - that we don't know what it's really like to have a kid with mito, and we don't really have a diagnosis, and we somehow just want to intrude on their territory for whatever sick reason someone would actually want to be in that community.

I also feel that way generally, with the medical community. They don't know what it is for sure, and our kids who died were infants while the rest of us are older, and none of us have seemingly urgent medical concerns. So as I've noted before, it might be mito, but it might be nothing. Nothing of serious consequence, that is, because there is something. And maybe it is mito for the kids who died, but an unfortunate mix of all sorts of other health issues for the rest of us.

There are other moms who have kids with a confirmed diagnosis, and they tell me to just accept that Dominic and Bridget died from Leigh's and have everyone involved in the care of our family plan our medical care based on the diagnosis of mito. But I have a problem doing that because you can't just give yourself a diagnosis. That's why the doctors go to medical school so that they get the final say. And you can believe what is wrong is this, but find out later it was that - and that treatment would be very much different than this. I am just cautious.

I am also one who has been very invested in natural. This sounds weird. I really appreciate modern medicine, and I am not wholistic exactly. I just am not sure I like the idea of rushing into medical "interventions." It seems to me, one "intervention" leads to another and leads to another.... until you have handed over your health to reliance on medical interventions.

I hear about some kids whose health is very similar to what mine was as a child, and the recommendations doctors are giving now in response to the situation. I wonder how I would feel if my mother had taken advice like that and put me through some of what parents are doing for their child because they are also scared like I am. Somehow, without all the medical technologies, I grew up despite having whatever it is that caused all that and is progressively causing much more. I can't say if my life would be improved or worse if my mom had had access to the kind of options we have access to now. I just feel more reluctant to run to the medical answers - or cynically, the protocol - when I have more trust in my own body to adapt or adjust somehow, than I have trust in people who simply are there because they went to medical school. It seems odd to me that strangers, people who see you for an hour at a time, here and there, but not constantly - that these strangers are trusted more than we trust our own selves.

Trust is hard for me. Because I tried trusting myself, and had two kids die. I tried trusting doctors and had two kids die. I also have six living kids, and I'm still alive. And somehow I really deep down believe that we are all just human. Death is natural. Not necessarily, in my very unhumble opinion, death of children, but truly it is just a reality that as miraculous as life is, it is also finite. As much as I wish I could have answers, I am not getting them. And as much as I want to trust myself or doctors, we have all failed. So the best I can do is just work from where we are.

Hopefully, I can find a place where I feel there is support through this struggle. Whatever the diagnosis or medical plan, whatever the ultimate outcome. I just hope to find a place where I am not marginalized for trying to do the best I know how for our kids, work through as I still grieve for the deaths of my children, and find a way to focus with all that my own mind and body are struggling with also.

And now I'll end my typical long ramble.

Wednesday, May 11, 2011

Lengthy, But Interesting

I didn't have the attention span to read the entire thing yet, but from the parts I did read I thought it was a good article. I will finish it, probably later tonight. In the meantime, thought I'd post it here to help me remember and to let others know it's out there if you're looking for a good read.

Power Failure: Does mitochondrial dysfunction lie at the heart of common, complex diseases like cancer and autism?

Brief quote from the article -
"Medicine fails to solve many of today’s common, complex diseases, Wallace asserts, because the fundamental paradigm is wrong: the medical establishment has spent far too long focusing on anatomy and ignoring energy—specifically, mitochondria."

Really Pointless

The appointment was really frustratingly frustrating. I'd use other F words, but... I don't swear. ;) Um. Yeah.

So we basically were treated like bad parents who don't have good eating habits. We've been through the feeding clinic before, and had food therapy, and we have already implemented the "plan" that was presented to us - minus the "flush out" we are going to do. Yes, apparently the scan does show some not good blockage, and so we'll do the flush out. But everything seemed to go in one ear and out the other with the doc. He gave us a pre-printed plan (the protocol - one-size-fits-all model) and every time I tell him we already have gone through this, he interrupts and tells me this is the plan.

Then after all this is laid out, he then says, "because of the metabolic or mitochondrial background, I'd feel more comfortable doing this one step at a time instead of all at once, as is typically done." So not only are we going to go through the same circles we've gone in before, we're going to go through it more slowly? I'm not sure what to think.

My husband pointed out just after we left that there was no mention of the white stools. So we called the nurse, and she is checking with him to make sure we should just keep doing the same plan that every patient goes through. Considering he had not had more white stools for over two weeks now, I assume all is okay in that category - especially since his coloring is still his typical pale/mottled and not yellow (I keep watching the whites of his eyes, and he seems fine).

His growth is the same as the last time we checked (about a month ago) - 41" and 37lbs. His head is 1/2 cm bigger - so his head circumference is 54.5cm! That is bigger than my head! The doc talked about how this is something you might see in autism, but they don't know why. I'm already familiar with that -Head Size, Autism and (?) Savant Syndrome (and, by the way, also how autism is being tied more and more to mitochondrial diseases -- see this and this, for example). He does have many autistic characteristics, but would be "atypical" if we did have him diagnosed (which we are not pursuing any testing currently). But nothing was mentioned about how this could be a factor in his current struggles.

They don't bother with head size after age 3 to determine if growth is sufficient, and since his height and weight both fit exactly on the average for a 4.5yr old, he is considered a "healthy" weight. He is going to be six next week. He wears 3T pants (that are still loose around his waist though almost getting short at the ankle). We buy 4T shirts, sometimes 5T to get around his big head, but they hang on him in a way that would be cool if we're going for the rapper look. Kids at school are teasing him about being a 3 or 4 year old. How much of his weight is from his head!? And how much would he weigh if he was eating appropriate amounts and not throwing up!? I'm just supposed to accept that he's "just small" when, though our other kids haven't ever been big, they haven't been this small? And using my height and my husband's height to suggest maybe he'll fall in-between based on the current growth curve (while mumbling something about he'll have a catch-up phase later?)-- well why not compare his weight to our weights? It isn't adding up.

Honestly, I feel like back in the NICU with Bridget, just after birth and she's struggling with her sats and breathing. They immediately turn to "protocol" - the "one-size-fits-all" based on gestational age model, and put her on CPAP. Completely ignoring that the amnio done just hours before clearly showed lung maturity. When she starts getting worse and they finally get around to doing an Xray, they see the cause of her trouble is not caused from prematurity, as presumed in their protocol, but because of a pnemothorax (plus a broken collarbone on the same side - likely as a result of trauma coming through the birth canal). CPAP was putting air into her chest cavity, making things worse because of the pressure on her heart.

Protocol has a way of pissing me off, because they assume that everyone fits into a little flow-sheet of "if this, then that" and forget that every person is different. Especially in a family that has had enough medical history that there is a legitimate question of an underlying genetic concern. Choosing protocol may actually put us on a negative path, rather than the anticipated positive, especially when you're in my family. (And we've had enough experience to have gone down too many negative paths already, thank you very much.)

I am not at all glad we went to this visit. I don't feel we gained anything. I feel we have absolutely no real support from the medical community. Our kids, whatever their genetic ups or downs are, will just have to suffer whatever comes their way. This is the kind of appointment that makes me just want to stop doing any more in a medical sense to try to help our kids. Because our kids don't have clear alarms going off for the doctors, they stack our kids into the "one size fits all" category. I don't know why they don't just redbox medical care... Yes, I'm feeling quite cynical.

Look. Our kids aren't just an average Joe. When there is a small risk of something, it tends to be my kids who are the ones who make up the small percent (note: infant botulism, post-tonsil-ectomy bleeds, infant mortality, c.diff, etc.) I don't look at it as 1 or 2 or 5 % anymore, but as either it will happen or it won't - 50/50. We have all sorts of quirks that result in us hearing a lot of "that's rare" or "I haven't seen this before" from doctors. But they can't put the pieces together, so they just overlook it instead!? Since they don't have any better ideas, just go with the pre-printed plan and hope for the best...

My gut (punny, eh!) has been on high-alert recently about this son, in particular. I don't know why. I haven't gone to medical school. I haven't had a great revelation telling me what to watch for or why I need to be more concerned. But I am. And it bothers me. It's not an anxiety feeling. It's not a paranoid feeling. It's just a mama-bear kind of sense that something isn't right. But I have no way of figuring it out. God isn't sending answers. Doctors aren't giving answers. And then our son really is okay in many ways, and I wonder why this instinct is troubling me so much.

Well, I lost that round. I'm not sure if there's any fight left in me. We'll do the flush out, and carry on with our scheduled/routine meals (this kid is basically autistic, and routine is already part of the schedule with him). We'll have to eliminate the times he does get out some gold fish or other snack cracker outside of the routine, and the milk or V8Fusion he's gotten between the scheduled eating. But otherwise, this "new" plan is already in place. I just hesitate with modifying things as they are-- like increasing miralax that pulls water from your system, and reducing the liquids he's drinking when he has demonstrated a tendency to dehydrate rapidly and much faster than a typical child does makes me wonder if this doctor is really paying attention...

So wrapping up. On a frustratingly frustrated note today. Grrr.

Tuesday, May 10, 2011

Going for Another Round

Well, tomorrow is the day the new GI clinic was able to get our son in. I hope this isn't another frustrating visit. After my last couple of lengthy posts which I mostly list out all the reasons I regretted not doing more medically, these appointments are sometimes why I regret that we don't do less. Often, we go in and then leave not having any more clarity about our situation, having spent time and money for the "opportunity."

The cliche of "rather be safe then sorry" is quite generalized, because sometimes even if you do all you can you are still far from safe, and still quite sorry. Sometimes in trying to be safe, you cause more harm. It isn't always clear if doing more is really better, or doing less is really worse.

So we are crossing our fingers. We are changing GI doctors and hoping that a "new set of eyes" will make the change worth it. We've thought our GI to be helpful. He's been pretty conservative about not doing too many tests, and still doing some when he felt appropriate. I liked that approach, except that when the problems just keep progressing into bigger problems, and we just keep doing the same things, it seems a little frustrating. So we'll see. This new GI comes highly recommended from other families who have mito kids, and even some who just have GI issues. Our pediatrician really likes him, too, as does our care manager (who is assigned the kids who have the most complicated cases).

There is one thing I'm a little nervous about. It's kind of a long story, which is sort of recapped here (or skip to the shot version* if you want):
When our youngest was in-patient, in a very frustrating and stressful hospitalization where we felt she was being kept there without medical need, but then we were being told if we took her home that it would be against medical advice -- and all sorts of threats were made in relation to that (let's just say things were tense between us and the hospital and medical providers there), one of the tests they felt needed to be done was a pH probe. This is a test we were familiar with because our older child had it done, and it did show a severe case of GERD. The only thing that data helped us with is that if we decided to do a surgery (nissen) that was then recommended, the test results supported the surgery. We decided NOT to do the surgery (and almost five years later do NOT regret that decision, though we were told by one doctor that it was medical neglect for us not to have the surgery done). Other treatment really stayed the same - prevacid for the acid, nebulizer with pulmicort for the resulting reactive airway disease, an oral steroid to reduce inflammation... nothing really changed. It was a 23hr long test and we just wanted to take our child home. When the GI doctor came in, we pleaded our case about why we felt that this test was NOT medically necessary, and why we did NOT need to stay in the hospital one more day just for this data when we were already treating her with prevacid. He conceded that we would not change the dosing of the medicine even if the results were like our older child, so he gave in to our requests to avoid the test. We were, well, pretty grumpy with him. He said something like, "Why are you being so belligerent!?" May not have been his exact words, but he was not understanding why we didn't want to do this test that "the team" felt would be a helpful test.

*Short Story: We pretty much had it out with a GI doc while our youngest was in-patient. We weren't as polite as we probably should have been when we met him, and our meeting was brief enough not to explain the background as to why we were worn-thin. I'm pretty sure that this GI doc is the same one we are going to see tomorrow. So I'm nervous about that unfortunate "first impression," making feel quite embarrassed, and hoping this doesn't taint whatever care our son is in need of.

Fingers crossed, right!?

Monday, May 9, 2011

Hindsight - Vision Still Blurred

When Dominic died, the only thing they could definitively find was Infant Botulism. He had all the symptoms, and it made it seem we'd put the pieces of the puzzle together correctly. Our pediatrician, though, took my husband and me aside. He told us he didn't think Dominic died from Infant Botulism. He felt there was something underlying, something genetic, but not something he was concerned about with our other kids.

I didn't understand what he meant. So we went back to the pediatric neuro-geneticist who had done the muscle biopsy and really was the lead in investigating everything. She said they had done all sorts of tests and the autopsy, and that she was 99.9% certain Dominic died from Infant Botulism. She said she couldn't say 100% because she'd been wrong before, then told us of another family who had a child die who they said wasn't from a genetic condition, but it ended up that a subsequent child became ill and they did find that both siblings did have a genetic condition. But she felt confident that without any other real results other than the botulism, we need not worry about our other children. She felt our pediatrician just had too big of an ego to admit that all those times we took Dominic to him, that he failed to recognize all the symptoms as Infant Botulism.

Well, today, I saw this story: Hampton mother endures infant botulism scare. I guess it just really hit my heart. The mother worried about her daughter, took her to the ER. The ER tells her the baby is okay, and to take her home. But the mother trusted her instincts. She drove nearly an hour to another ER at a children's hospital. And they were able to see there that truly there was a problem with the little girl. She was able to get help, and is now recovering from what would have otherwise been a fatal condition.

When Bridget was flown to the same hospital, the same pediatric neuro-geneticist told us that Dominic did die with Infant Botulism, but not from it. Whatever had caused their crisis events was from an underlying genetic condition, likely a mitochondrial disease.

It just makes me sick, though. Did Dominic die because I didn't keep going from one doctor to another until I found one who would really see how sick he was? Did Bridget die because I didn't do that for her, either?

I think I've been too concerned about what everyone else thinks . They don't see things as concerning as I do, and so I feel embarrassed that I've over-reacted and then question myself when I feel concerned again.

This is particularly true in regards to what my husband thinks about things. He would tell me over and over that he didn't think anything was wrong with Dominic. He was just small. Some babies are small. And he also tried to reassure me many, many times when I would tell him how worried I was about Bridget.

I have been looking at the chat records from when I'd talk with him and tell him I was very concerned about Bridget, how lethargic she was being just like Dominic had been... I've been looking at those conversations. I want to know if I tried hard enough. I want to know if I was just over-reacting about some things.

This is one of those conversations, which was our back and forth for an hour:
ME: of course i don't have the car so i can't really take her in, but bridget is not really eating today :(
HIM: ack, sorry. :(
ME: I keep trying to wake her up and she's just not really doing it. she's not exactly lethargic, cuz she spent like an hour being alert and awake, but she's just not sucking... i'll try a bottle again, though
i'm really discouraged :(
HIM: sorry. don't give up, she'll perk up.
ME: but if she stops nursing, i'll lose my milk even if she does perk up, so i won't be able to nurse anymore
HIM: it's only been a few hours, you're not going to lose your milk.
ME: and she's not even really taking the bottle either
she'll get started on either, but then just give up within the first minute
HIM: weird. is she acting ok otherwise?
ME: she doesn't seem to have a fever or anything
i'm not sure what suddenly changed, because yesterday I was feeling confident enough to stop writing all the nursing stuff down
HIM: maybe she's just extra tired this morning
has she been pooping? maybe she's backed up and not feeling hungry.
ME: but she was wide awake for probably her longest span
she's been pooping, yeah
wet diapers too
ME: well, i did get her to latch on and stay on, but she is definitely not so vigorous
i'll still offer another bottle afterward. don' tknow what more i can do
still won't take the bottle

This one was over a two hour span:

ME: i'm wondering if i ought to find out about domperidone
HIM: me too. what is it?
ME: it's the medication that isn't meant for milk production, but that is used to increase milk supply "off label"
HIM: what other side effects, though?
ME: supposedly not much, unlike the reglan
although it is also a gastrointestinal kind of medicineME: bridget had the orange stuff in her diaper again
so i was looking up about that and came across this article:
considering she's had less poopy diapers too (still having them, just not as many/as much amount)
and her soft spot seemed a little "sunken" last night, I'm worried she's not getting enough
the article is reassuring in one way because it sounds like my problem is simply not enough stimulation/removal
so I need to be pumping more. I'm guessing she's not removing enough because she's sleepy when she eats. not always vigorous, seems more like "comfort nursing"
so I'll just have to keep supplementing more. i've been cutting back on the bottle amount, so likely she needed that and that's why she's going down in poop output and had the orange in her diaper this a.m.
it does make me wonder if dominic didn't actually die from malnourishment from not being able to suck enough from the botulism, rather than the actual botulism. like maybe he passed out from not having enough milk rather than actually being paralyzed
I did give bridget another bottle, and she finished it all. but then did hte huge throw up thing (not just little spit up)
so I'm just not exactly sure how to do this. i don't imagine the dr. would do anything more except maybe examine her and either confirm that she maybe getting too little and so a little dehydrated, and maybe check her blood levels for glucose, sodium, electrolytes or whatever
and I was talking to bridget, and I don't think she was in her trance state. and she smiled at me twice
HIM: should we get a more accurate scale so we can at least weigh her? I really think you're doing everything you can.
ME: That's another reason I think she's not getting enough
i have weighed her on our scale, and it isn't exact. but it just seems to be staying the same
whereas when we were finally getting weight gain on the dr. scale, she was going up from just under 5lb mark on our scale to around 5.5lb on our scale
and now she just seems to stay at the 5.5lb mark
i'd think after a week it should be closer to the 5.75 or 6, even if it isn't exact
HIM: I don't know. could she handle a few more bottles?
ME: I'll keep offering them
maybe just do the smaller amounts like I've been doing the past few days
she seems to tolerate that pretty well. i kind of panicked and gave her the full 50ml bottle after nursing her on both sides, so that probably was too much at once
so i'll just nurse her and offer her the 25ml bottles more often. when she was gaining 1oz a day, she was nursing and getting about 100ml/day from the bottle
90-100, i guess
i've just been doing 25-50 ml in a bottle the past couple of days because I thought she was nursing better and my milk seemed a little more abundant than it had been. but maybe i'm wrong
I also thought if she had less in a bottle she would nurse more/better, and make up for it, but maybe she's not strong enough yet
i also wonder if she's not as effective at nursing because of her overbite?
HIM: could be, I really don't know
sounds like a good plan though
ME: i figure the doc was comfortable w/ waiting a month w/o seeing her unless I thought we needed to take her in. 9 days ago she was still gaining at about 1 oz./day
I don't think she's been losing, hasn't acted lethargic (actually more active) or fussy
and she's still eating/peeing/pooping
so I figure we're good to just tweak things for a bit
the nurse will be out next week to weigh her, so I just want to wait until then. I'm afraid if I take her in and there's any fuss about her weight (but still only results in, okay go home and see if she does better and bring her back in) I'll get discouraged again (and panic that it's another Dominic situation)
so I'd rather just be slightly ignorant, but still cautious, and see if she keeps growing w/o frequent weigh ins
HIM: I think giving her more bottles for now sounds like a good plan.
ME: yeah, i really don't think i'm going to let her starve, even if I am not a NICU nurse ;)
I'm really trying to pay attention to even any slight indication things aren't going as well
even if they are, and I'm being overly cautious, I don't think I'm porking her up too fast, so a few extra bottles shouldn't hurt too much
the most damage it could do, though, is make her less interested in nursing because a)she's more full and b) bottles are easier
and that could impact my milk supply and I could end up not being able to nurse anymore
but that's worst case, so I'm still trying to pump more to help keep that from happening (which again, makes her less interested in eating because there's not as much milk there when she goes to nurse..

and if I pump, I'll replenish more so it won't seem so empty to her or something

The next day, this was our conversation:

ME: well, dr. lawrence ordered a can of A&W rootebeer everyday
supposed to help your milk supply
HIM: lucky you. ;)
I'm pretty sure they sell it by the case at costco
ME: also, to do the more milk or mother's milk teach
they're going to do some research about the domperidone, but have never prescribed it before
HIM: so another trip to good earth?
ME: were willing to prescribe the reglan, but i mentioned my hesitancy w/ depression history
i'll check to see if gnc or other health store near here has it, because i think they list good earth due to the location near their clinic
but i'm sure it's not the only place you can get it
but bridget is again not nursing so well
so i'm just getting nervous, but trying not to ... what a fun cycle
I did get her awake to latch on and nurse, just she dozes off and isn't so vigorous
maybe i'm just more nervous because of the time of year. and that dominic's whole dr. visit drama started off when I called about the orange in his diaper (which they at first said was normal when i called to ask about it). i finally took him in a couple days later because he just didn't look right/act right to me, and that's when they saw that at about this same age he was only slightly above birthweight
and now bridget is the same age, and seems only slightly above birthweight, and had the orange in her diaper, and is much more sleepy (like dominic was -- remember the day we moved and i thought it was such a blessing that he slept so much so i could help with the move)
of course, bridget's been sleepy all along, but still is not making me feel much better. :(
HIM: sorry, I'm sure it brings up a lot of stuff. but you're doing everything you can and it'll be ok.
ME: yeah, it will be fun to bless her and have a 6yo Dominic running around, too
should make for a fun beginning to September
at least she's still pooping. dominic wasn't having poops

This was about five days later:
ME: bridgets making me nervous
HIM: why?
ME: hasn't pooped since yesterday. shes making those weird noises
very sleepy
she was wide awake when the nurse was here
went to *'s school and ran into april, and we were in the parking lot talking for probably about an hour
i think it was too hot for bridget, so now Im' worried i fried her brain or something :(
she's nursing, kind of, but weakly
HIM: if you were just outside and not in the car or anything I'm sure she didn't overheat.
she's probably just tired, maybe getting a little sick from what the other kids had
ME: but toward the end I did get the kids in the car. had both sides of the doors open
but not sure, maybe 10 minutes in there? It was pretty warm when I got in, even w/ those doors open. i turned on the air conditioner full blast, but maybe something's wrong already
doesn't help i'm in hyper paranoid state this time of yera anyway
HIM: no, it wouldn't have made a difference especially with the doors open. she didn't overheat
ME: and nursing a floppy baby is just kind of freaking me out alitle
HIM: I'm sure it is. just keep an eye on things, but she's ok.
ME: the nurse did say that she'd never felt a soft spot on the back of a baby's head like bridget has
said to definitely meniton it to the dr
but said her soft spots were not sunken or raised, so that was good
she said there's a soft spot usualy on the lower back of the head, but closes up pretty quickly after they're born, so it was really unusual to her that bridget had that extra soft spot area
also said the lower jaw may be making it harder for her to eat so to bring that up w/ the dr
and to ask about the RSV shot, but she's not sure if she'll have that covered or not

I look through these conversations, and many others. I look at notes I'd written down, journal entries. It is obvious I was concerned. And there are even times it seems I'd respond to that concern in a way more heightened than perhaps it should have been. And yet, ultimately, my response was not enough. I discounted all those things because I wanted to be "level-headed" about it and not get "carried away" in fear.

And here I am. Still trying to figure out if the concern I'm feeling now is legitimate or inflated. I still wish we could figure out if Dominic really just died from botulism, but then if so, what did Bridget really die from? And if they both died from the same thing, then what is that "thing?" You'd think after this long, we'd have a clear answer. So knowing that even good, smart doctors can't help us always, that mixes in with feeling embarrassed about "getting too worked up about 'nothing'" and the fact that really, my kids are overall doing okay, then make myself feel justified for not trying harder to find what is going on.

Then I read stories like the one above. And I hear people talk about how their child lived because they were the advocate that their child needed. I feel bad. I feel like I failed my two kids who died. I feel like I'm failing the ones who are having these things that sometimes seem inconsequential, and other times seem to be a symptom of something bigger. I feel like I need to gain confidence to be more bold and "fight" for my kids, and I feel like I need to settle down and be more calm so my kids don't have to be in the middle of a fight for no reason.

This blog is titled "It Might Be Mito." But it could have easily been titled "It Might Be Nothing." So I struggle.... unsure. Even with hindsight.

Sunday, May 8, 2011

Not Knowing

I started off motherhood with the attitude that I would NOT be one of those moms that takes her child in for every little sniffle. But then, I quickly learned it isn't so easy to know when to take your child in or not.

When my first was 2wks old, and I took her for her first well-child visit, the pediatrician got a very concerned look on his face and said, "she's very yellow!" I looked at him approvingly, proud that she'd inherited her father's Italian olive-colored skin. I think he could tell I wasn't understanding. He told me, "This means she is very jaundiced!" I'd heard the term before and then realized what a mistake I'd made. I hadn't even been worried about the yellow-coloring!

I think this is where I really started to begin to question myself as to when to take my kids in to the doctor or just carry on with life. When she was a little over a year, she got a cold. Just a "little sniffle." I didn't bother too much about it, other than to keep the kleenex handy and keep her nose as clean as possible. A few weeks went by. I was still wiping her nose. The first little while was mostly clear, and I even wondered if it was just allergies. Another thing she likely inherited from her dad. So I kept wiping her nose. After a while, it got a little more yellow, then green. Finally I decided to take her in.

The doctor did the typical check-up, then began to take some of the mucous from her nose. He was a little surprised. He got what looked like a pair of long tweezers. He grabbed the end of the mucous dripping from her nose, quite thick by this time. He pulled. And kept pulling. He was just absolutely stunned to silence, it seemed. When he finally said something, he said he had never seen anything like this! He then asked, "Have we talked about Cystic Fibrosis before?" That was the first time I had every heard about that.

He told me he was going to send us for some tests, including a sweat chloride test. And we were to see the ENT, making sure the specialist knew he had been pulling "thick - viscous - pencil-length, rope-like discharge" from her nose, rope, after rope, after rope. I had never heard the word "viscous" before either.

She didn't have cystic fibrosis, and after an adenoid-ectomy things seemed back to normal. Shortly after the surgery, she was sitting on a folding chair, playing the piano, and lost her balance. She fell, just that short distance to the floor. She cried, but then was okay. Except she wasn't using her arm and she'd cry when I'd put her coat on (she was usually very even tempered and really didn't get worked up about much, especially putting a coat on). I noticed her wrist and arm seemed a little more swollen than the other. So I called the doctor's office. I explained what happened. Based on her age, they told me it was probably a little sprain. I asked if I should bring her in for xrays to make sure, but was told she was too young to break her arm, and especially from such a low height, it was just sprained. So I waited a few days, still feeling something was wrong but not wanting to take her in "for a little sprain." But I finally just felt I needed to. They did the xray, mainly to give me reassurance. Then they saw that both of the bones in her arm were actually broken (they told me the scientific names of the bones, but I honestly don't remember now.) I started crying. The doctor reassured me that it was okay, but I felt horrible I had waited so long to take her in. He explained they would have had to wait the few days anyway for swelling to go down before they casted it, so I didn't do anything wrong to wait to bring her in, but I felt awful anyway. Supposedly, having been diligent about giving her fluoride from six weeks of age, her bones were more brittle and that is why even though she was so young and fell from such a low height, this could happen.

So much for being sure about when to take your child in!

I could go on and on. Our 2nd child, our first son, was quite ill and went through a lot. I read back on some of my journals when I was quite concerned I would lose him, even though there wasn't anything critical going on. Our 3rd child was born premature, emergency c-section and had to be resuscitated at birth due to prolapsed cord - no trace on the monitor and no pulse in the cord for minutes before birth. She didn't grow well, and there were just a lot of concerns with her as well. I felt lucky because we had our miracle to have her here.

Dominic's life was short. And I spent most of his life in and out of the doctor's office, doing all I could to help him grow and develop more appropriately. Though he was struggling, his crisis event was still such a shock! The doctor's office had even sent me home with a little paper with an "A+" on it just a few weeks before that, and he'd been seen in office on Sunday, Monday, and Thursday before his ALTE on Saturday.

Bridget's life was even shorter. I didn't spend as much time in the doctor's office, but she started off with 10 days in the NICU. And we had a few visits to the clinic before her crisis event. One of those visits was after a week from the previous one, and she had gained no weight. The entire week she hadn't gained anything, but hadn't lost either. The doctor was concerned. He thought it would be okay to wait a few days and try adding more formula to my expressed milk, then go back in. So three days later, we checked and her weight gain was ample. So he felt we could give it a month before going back in. I made the appointment - Friday, September 7th, 2007. But on Aug. 15th I was so worried about her, and wondered if her weight gain was sufficient. I called and they told me I could just do a weight check for reassurance. She weighed-in, and they felt it was a slow gain, but still sufficient, so just keep the appointment in September. We had a home health nurse coming out through a program for preemies, and she'd come out for weight checks once a week. I thought I was just getting nervous because of what we'd been through with Dominic. At that appointment, though, things had really started to add up to a pile of anxiety and concern. I had a list of things and went over it all, and after about an hour with the doctor, left feeling like I was just being a paranoid mom with heightened concern due to the anniversary of my son's crisis event and death coming up.

I didn't want to be the mom who took my kids in for every sniffle.

I have, more and more, began to second-guess myself. It's weird, because since those concerns I had with Bridget should not have been discounted, I still worry that I'm making too much out of things that aren't really a problem. I've been trying to seek reassurance that my other kids are okay because I don't want to lose any more, but I also worry that I'm in a sort of denial that my kids may really need some help. I felt that way on Sat. Sept. 8th 2007. Bridget HAD to be fine, and I was just imagining it was happening again. But I also KNEW and could even SEE something was terribly terribly wrong.

Death of one child (and in our case two) just makes it hard to separate out the grief and fear from what is real, especially if cause of death is thought to be genetic.

How do you know if your other children are really affected by something concerning, or if it's just your head and heart being confused by how hurt it is and from how afraid it is of having it happen again?

Not even 9 months after Bridget died, our youngest was born and she was 7 wks early. I went into the hospital a week before with a placental abruption, so I had spent the week in the hospital getting ready for an early arrival. It was good that she did as well as she did after birth, having gotten two doses of shots to mature her lungs.

The NICU sent out a newsletter for a while after she was born. In one of the issues, it talked about Vulnerable Child Syndrome. It's where we have gone through something traumatic, like almost losing the child or previous losses, or both, and so we are hyper-reactive to things going wrong with that child (who survived) or to subsequent or other living kids. I read that and started to wonder about our youngest, who was in and out of the hospital at that point, suspected to have the same condition that Dominic and Bridget died from, but they couldn't find an answer for sure. We have had so many losses - 3 miscarriages and the death of two children. We had the close call with our 3rd. We had three NICU experiences. So we have the history where this could really shape how we view things. And I don't want my kids to be subjected to unnecessary medical tests/procedures/visits just because of that.

It sits in the back of my mind, like maybe I'm doing TOO much medically with our kids now because their siblings died, but maybe there really isn't a similar issue with them that I need to worry about. Then on the flip side, I was TOTALLY convinced BEFORE Dominic and Bridget had their crisis event that something was happening with them that was more urgent than what the doctors were seeing. I literally begged and pleaded with the doctor to see what was happening with Bridget and not just discount me as being paranoid because of the things that happened with Dominic and his anniversary coming up. So, I am not sure why I am so absolutely lacking confidence in knowing what to do, how much or how little, medically for other kids.

I don't know that anyone could read these long posts. I mostly write it out to help me remember what I'm thinking about with this journey to find answers. But I do hope if anyone has taken the time to read, they could offer insights. I am just wanting someone else to take my feet and plant them firmly in reality. How concerned should I be about my kids who are struggling? How much should I do to try to figure it out? How far do we go to find specialists who are more educated and experienced with the world of undiagnosed/rare and what they think is either mitochondrial or metabolic, but almost definitely genetic?

I have had increasing concern about our youngest son. And after having a few months of not being as high-alert with our youngest, I'm having more and more concerns - some things that are just changing with her and somethings that are the same but seeming to get worse. And yet, I read about so many kids who are sick. Really REALLY sick. I don't want my kids to be one of those kids. And I don't want my kids to be sick with whatever it is that took Dominic and Bridget. I don't want that to take anymore of my kids. But if there is something going on that we should address, it doesn't help them to ignore what is there. I just also don't want to imagine something is there when it is not.

It's been a struggle for me. I hope to find clear direction with all this. We have a lot of appointments coming up through the next couple of months, so maybe that will help. But somehow, I also have to find a way to know when to make appointments, or not. When to keep looking for answers, or to stop...

Tuesday, May 3, 2011

Please Join Our Efforts!

Utah's first Energy for Life Walk will be Saturday, September 10, 2011
Ready to join us!?
Our site is up, and ready for you to join a team, or start your own! We aren't listed on the main page for Nationwide walks, but that is only because the fall walks haven't been added yet. Anyone who wants to start their own team in memory or in support of any individual/family affected by mito, or just because you want to - go to www.energyforlifewalk.org/utah. If you'd rather join an existing team, you can do that, too!

This is our family's team -

Our team name comes from the reaction of hearing a medical condition not many people have heard about. Then having gone to so many different doctors in all sorts of specialties, it is quite difficult to remember who you are seeing. Not to mention that we're fans of the BBC Doctor Who series, discovery, & learning about mitochondrial disease - so Mito What? Doctor Who? it is!

Please join us & support us as we work to increase awareness for mito, and help raise funds to improve testing and treatments. We'll likely add teams - one for Dominic and one for Bridget, as a reminder of why it's so important to focus on how this disease takes the lives of too many children.

"In childhood, mitochondrial disease is more common than muscular dystrophy or cancer." http://www.medomics.com/Mitodx

" The mortality rate among children with mitochondrial disease varies from 10 to 50 percent per year. Most children do not survive beyond their teen years."

How many individuals are affected?
Every 30 minutes, a child is born who will develop a mitochondrial disease by age 10. Each year, 1000 to 4000 children in the United states are born with a mitochondrial disease. While exact numbers of children and adults suffering from mitochondrial disease are hard to determine because so many people who suffer from mitochondrial disease are frequently misdiagnosed, we now know the disease is approaching the frequency of childhood cancers. Many are misdiagnosed with atypical cerebral palsy, various seizure disorders, childhood diseases and diseases of aging. Still others aren't diagnosed until after death

Saturday, April 16, 2011

Rethinking things

So our youngest son's latest trick is developing white stools. But then they went to light pasty yellow and then to light brown. But because he doesn't have a lot of bowel movements, the first white stool we noticed, I decided to check in with the doctor. I wondered if it had to do with going up on the Miralax added tot he fiber, if maybe it made the change in his stool.

The nurse actually told me they don't like white stool and told me they send children to the ER for this because it could mean a problem with the liver. I told her he didn't look yellow at all. She told me that was good, but it was still what they recommend with white stools. I then also told her that he was not complaining of any pain, and was his normal (low energy) self. Her reply was that if I wanted the doctor to tell me the advice, that was fine, and he would be calling me later. I realized that she was more aware than I was. I didn't want to hear ER and so I was just making sure to justify why that was over-reacting. To which she persisted, but knew that it wasn't going to help me hear what she was saying, and figured it was a task for the doctor to take up.

So I just went about my day, watching toilets. I had already arranged a girl's night out with a friend new to grief, and I really felt I could use that time out with her. My son who died would be ten today, so I was thinking a lot about him. I was thinking a lot about how after so many years, it's still unclear why he died.

While I was out, my husband took everyone else for a fun trip to eat out. And that's when the doctor called. He left a message, saying exactly what the nurse said - that if we saw white stool - like sheet white (and I would say it looked like white chalk - definitely white and my husband saw it, too) to take him to the ER. Well, when we finally got the message, it had been nearly twenty four hours since he had that white stool. I had him sit on the toilet for me and do his best to get something out, which he got about what you'd think of when you squeeze your toothpaste onto your toothbrush out. And it was a very pale yellow. But it was not white. Then we had him go again, and this time he was able to get out a little more, and it was light brown. SO we justified that because he wasn't having them now, it is okay to just watch him.

Then I stayed up much of the night wondering if we did the wrong thing. Maybe I should have taken him to the ER? Well, today is my son's birthday - the son who died. So it puts a lot into your mind. We thought he died from infant botulism. Then I was just going through my mind about things, and maybe he really did just die from botulism and we're trying too hard to make it mitochondrial disease because we can't explain everything else with our kids. And then there's the reality that we have also had another child die, and she did not have botulism but had episodes just like her brother had.


Well, going out with Michelle also put a lot of things in my mind to think about. I really still am so sad. Today it is seven weeks since her little Maggie died. She is taking her son out to Atlanta for testing because they are watching symptoms he has and thinking he also may have mitochondrial disease. Maggie struggled for about two years before her trip to Atlanta finally revealed that the cause of her struggles was from mito. It was good to talk with Michelle about her insights and experiences with the same doctors we've been going to. I couldn't help but to begin wondering if I'm doing the same thing I did on that phone call and just refusing to hear (without really consciously doing it) what I'm being told because it sounds too scary. Should I be trying harder to find a diagnosis?

But then I feel like we've tried. We've tried really hard. For the six days Dominic was in the PICU, they did all sorts of tests, including extensive genetic work-ups. Both Dominic and Bridget had muscle biopsies and skin biopsies. The whole week Bridget was in the PICU, very very extensive testing was done. And they both had autopsies.

Which again, makes me so confused. Because Bridget's autopsy lists the diagnosis with some medical terms then says "suggestive of a Leigh-like syndrome. Metabloic gliosis"

It then goes on to explain under "Discussion" how Leigh or Leigh-like syndrome affects someone, and how her history is all consistent and the autopsy findings are consistent. But. It also points out that there are things that make "the exact nature of the underlying defect... difficult to elucidate" and so "a precise diagnosis can not be made with certainty" Then it goes on to point out that "there are several abnormal findings consistent with an underlying metabolic encephalopathy. Specifically, many of the findings seen in this case are suggestive of Leigh disease (subacute periventricular necrotizing encephalopathy) or a similar syndrome."

Dominic's autopsy revealed nothing. But there was not an extensive autopsy done, as it was done at the Medical Examiner's office. And honestly, no doctor has ever sat down with us to go over the autopsies for either of my kids.

And we have done lots of testing for the rest of us. One thing that you usually see with mitochondrial disease is elevated lactic acid. Well, that is one thing that is always normal (with the exception of the two who had their crisis events - their lactic acid was high, but who knows if it was part of the cause of their events, or a result of their events). Almost all the other test for "makers" for mito also seem pretty normal. There are some slight things here or there that aren't really right, but overall things are okay. Even with Dominic and Bridget who did have some basic labs done before their crisis events happened, there wasn't anything alarming in the test results.

So I go in circles. We're over-reacting, thinking there is some underlying medical problem with our kids because their siblings died. Then realizing, "wait, their siblings died!" And then obviously, something was wrong with them (even though no one thought anything that wrong was up with how "well" they were doing at medical check-ups). And these kids are doing some of the same things their siblings did. And maybe if I don't figure this out fast enough, they are going to die, too!

Here's the thing. If your child is not really sick, they have so many patients that they need to focus on the really sick kids. And when they've done all the testing they can think of and don't come up with anything, they don't feel inclined to spend more time when they have really sick kids to take care of. But on the other side, because we've had really sick kids, who suddenly became really sick when it wasn't expected, the pediatricians and general practice doctors are too nervous to take care of your not really sick kids.

So you end up falling in the cracks of medical care. Too complicated for the general practice, not complex enough for the specialties. And though we have visits with them all, we go in circles. We get no where. And even if I really wanted to be aggressive in finding a diagnosis, unless you have the medical community helping you, you just can't do anything more. It is what happened to Dominic and Bridget in a way. They fell through the cracks. They weren't sick enough for anyone to think something serious was happening. So when I begged and pleaded for the doctors to see what I was worried about, they just didn't see it as anything more than a paranoid mom... Circles...

I am going to keep rambling. Somehow, I just need to do this because it's hard to have a son who'd be ten years old, who died at five months and we still are unclear about why. And his sister died over three years ago, and we still don't know why. And their siblings are doing things that concern us.

When Michelle was here, she was showing me some photos of Maggie. Well, I don't have permission to post any, and I won't. But I will post a photo I found today while going through some of my son, Dominic, who would be ten. And a couple of my youngest. And one of Bridget.I know you aren't supposed to compare. But I saw a picture of Maggie and it reminded me of how my kids have the deviated eyes in their episodes, and I hadn't even remembered that about Dominic, but then I was the photo. I didn't take a lot of photos with him because we still had a film camera. I don't have any video of him. But I have video of Bridget, and I have video of my youngest having the exact same episodes, and the neurologists saw them and think they're abnormal. But again, those tests. The EEG really didn't show seizure activity on my youngest. It showed rare peaks and some slowing, but nothing else. The neurologist told me that it was either frontal lobe seizures or deep in the brain seizures or encephalopathy. But... let's not go in circles.

I'm sure if anyone has read all the way through this they feel a little dizzy. But that is how I feel all the time. Because it's only a brief glimpse into how I think and think, and rethink everything. Wondering how much we should be doing, how much we shouldn't be doing.

I admit, it terrifies me to read news like this. Because the medical world has made all sorts of advancements, parents are now liable for failing to utilize all the medical technologies available? I honestly read that case and feel I can understand how a loving mother could have kept potentially (and probable) life-saving medicine to her child. I don't know that I would do the same thing, but I can't say I wouldn't have.

I feel cheated, because really I was raised in this society that does have all these medical advancements. If I hadn't been through all we have, I would probably have been on that jury and thought it unconscionable to have withheld the almighty treatment that certainly would have saved this child's life! How could a mother do such a thing! But then, my trust in that same all-saving medical community died with my children. What I used to believe, that doctors have the answers and that when things go wrong, although they don't have all the cures, they can at least tell you what to expect before you have to face it. I used to think that the ones who died were the ones who didn't get in fast enough, waited too long... But it isn't true.

Doctors are people, too. And we still have a lot further to go to really know what we right now only think we know. And then there will still be new discoveries to be made, and we'll look back and realize we didn't really do as well as we thought we did.

And that's why I'm rethinking it all. I don't know if I really did as well as I thought I did. And I hope I do enough now.