Monday, April 26, 2010

Not Sure What to Make of It

We got a copy of the report on the genetics testing. It uses so many terms I am unfamiliar with. It lists some things that are associated with that certain whatever it is, but then I am not sure if it is suggesting those are risks for her or if they are just merely interesting things being noted. For the cost of these tests, you'd think they would at least translate it to more common speak for us.

Now my imagination is left to try to guess what we are dealing with. I have two children who are so underweight that the print out from the doctor's office plotting growth on the chart lists them in the ZERO percentile-- not even close to being on the chart. But the doctor does point out that their height is also on the same non-curve. Both of their heads are quite large in comparison, one in the range of the seventieth percentile, and the other in the ninetieth percentile. They also both have micrognathia, medical speak for small and recessed jaw.

You might think, so what? Failure to thrive. It's not that big of a deal. As long as they're still growing (and they are), what will it hurt them? I try to think that they don't look like those pictures you see of children starving in places like Ethiopia or concentration camps. Then you start thinking about other things. Why the low carnitine? Blame that one on not eating well enough, right? Okay, maybe. And easy enough we just give the carnitine supplement everyday.
But why the high CSF protein? Why the low CSF glucose, but the blood glucose taken at the same time is normal? Why the higher than normal iron, with a low ferritin (that's the way to see how well your body stores iron) . I've asked two specialists and our pediatrician, and none of them can explain it. But the low ferratin could explain the repetitive twitching during sleep
that the sleep study documented. The same sleep study that documented de-sating and apnea. But not CNS apnea.

So we are taking our youngest to have surgery tomorrow at the hospital where our two kids died. And that last word of that last sentence is why all the little things that don't seem highly concerning begin to concern me more. Both of our kids that died had failure to thrive. The few blood tests they had before their crisis events were relatively normal. There was nothing there that raised real concern with the doctors. But something was wrong enough that they stopped breathing and their hearts stopped without any warning it was coming. So why can't the doctors explain why? How is it that we can have so many tests and know so much but not be able to figure out how children can "look fine" but not be fine?

Well, all of it just leaves me quite unsettled. I go back and forth wondering if it is even necessary to go in for the surgery. What if there is something underlying-- a very real likelihood, which is why we keep trying these expensive tests to figure it out-- and since we don't know what it is, somehow the anesthesia or other medications don't work the way they think they are supposed to work? What if her body can't tolerate the stress of even a common, routine surgery? Why
should we put her, and selfishly-- me, through the stress of the hospital? A mom even without all the experiences we've had would naturally be worried. But I am just very much wanting to avoid this.

In subtle and not subtle ways I see reasons to be concerned. Tests come back that get the doctors both relieved and, if not concerned, at the very least curious. They tell us it is like taking several
different boxes full of puzzle pieces and Mixing all the pieces together, scattering some of the pieces around making them difficult to even find and having no idea what the picture each puzzle is supposed to make even looks like. But there is no current crisis, and then everyone wonders how much effort should we put into a puzzle that may not even be anything of significance in the end. I know they're doing their best, but I just start to think maybe they aren't. Maybe because there are so many kids who they are caring for who go to them
with their puzzle pieces all nicely inside the box with a clear image fixed on top that these doctors have their time and focus where their skills can be better utilized. The pictures on those boxes are clearly alarming. And then what if the next crisis comes because everyone gave up trying to figure out what the underlying problem is?

But again, my kids "look fine." (as long as they aren't mottled because they are out when the temperature dips into the low sixties or climbs into the mid seventies. Oh, and with the "heat" they become so weak and lethargic and suddenly not feeling well until you get them back into the air conditioned-climate-controlled-house. This is just one exception to how my normal-looking kids don't have normal lives). But that doesn't comfort a mom who had two other kids who"looked fine" and then suddenly didn't look okay anymore. My kids mostly act fine, even though the pH probe shows continuous and constant refluxing into the high part of the throat. Swallow studies show penetration with every swallow, but at least there is no aspiration. They mostly act fine (if fine is not running around and keeping up with other kids their age because they are too weak, tired, or exhausted and over-heat so easily, again just one of may examples of how my noraml-acting kids don't really act normal), so why should we worry?

I don't know what to make of it all. Am I crazy and just exaggerating every little thing that really is just normal with other kids? If I didn't have to live with the reality, knowing that when I tried to convince myself with my kids who died that I was just being paranoid about all their little "quirks" and " episodes" they would have, that I was really just being blind - I could probably more easily comfort myself with that.

So I go in circles. Not sure what to make of it. It's a challenge I see when I read of other families who are trying to put their pieces together. The box doesn't tell us if it's mito or something else. We just have to pick up the pieces every day, and keep hoping at some point it will make sense.

Thursday, April 15, 2010


Normal. That's all I know for now, and they'll send more in the mail. I don't know what else they'll mail to me if the result is "normal." I'm irritated, but grateful not to be waiting to know that they know that they don't know. I had told myself not to get my hopes up, but at the same time I'm thinking, "Now what?"

Did Dominic and Bridget really die from the same genetic condition, as the doctors have suggested? If so, what is that genetic condition? We have done thorough genetic testing now. Both the whole genome microarray analysis, and now the whole mtDNA-genome sequence analysis. So if there was really a genetic problem, wouldn't we see something on these tests? Also, they have run other testing for specific genetic conditions. Why do you need to do all these individual tests if the whole genome tests can tell you where to start?

Part of the problem I am having is trying to learn all the complex details of genetics without ever going to medical school, let alone having any clinical experience with it all. But I do have some very real life experiences that make this such an important thing for me to understand. My kids have died, and I have more kids who have medical concerns. Why? What now?

Well, we have surgery in a week and a half. It's just a same day tonsil/adenoid-ectomy, but with the history and size and age, we'll stay overnight for observation. Maybe that will be enough and all these other odd quirks will go away. FTT will resolve...

It's just what it was before. Only now we can cross another test off the list, and expect another bill. For those of you considering testing, I don't know that this is meant to be advice. Just be aware that you can put a lot of hope and money into promises that aren't sure.

Wednesday, April 14, 2010

Painfully Practicing Patience

The test was completed, but hasn't yet been faxed. It will likely be faxed within hours to the specialist. It is very hard to think that the results are there, but I can't know what they are. Some stranger has the results in their hands. The consequences don't matter to them, and I have to wait. It's just hard, even though I've already tried to convince myself that the test isn't likely going to show us something. How likely was it to have both of our kids have their crisis events the same day, exactly, six days apart? The same way? So you can't really convince yourself when you're thinking likelihoods and been through what we have. If there is a chance, I have to consider it seriously. And this is one chance I am hoping really happens. To have an answer for our family. Even just a subtle hint at an answer! So I'm waiting. Trying very hard to be patient, and not being very successful.

Dominic's birthday is only two days away. Will some of the mystery to his life's story be revealed? I am very tense with anticipation, and cautiously hoping against hope. I miss my son, and his birthday approaching just intensifies the missing. It intensifies the not knowing, too.

Tuesday, April 13, 2010

Doctors and Testing and Shots, oh, my!

We drive about 45 minutes to visit with our pediatrician. There are many pediatricians closer to home, even one clinic just about one minute away. But we make the drive. Today was one of the days we made that drive.

Our youngest is in her second year of getting synagis shots. I took her in today for her last shot of the season. I had a list of questions to ask the pediatrician about, but we didn't have an actual appointment (the nurse gives the shot) and the doctor was running behind. He called us later, but I wasn't home and my list of questions didn't get answered.

It is the eve of when the testing company told me our test was scheduled to be completed. The results will likely be faxed tomorrow to the specialist. I don't know if it will be faxed to the pediatrician or not.

I've been reading a lot about the test. I had been pretty hopeful when it was suggested that we have the test done. It sounded like this was the test that would finally give us some kind of answer. Maybe not a complete answer, but an answer. But the more reading I do, the more I realize that maybe we'll get nothing (except the really big bill). I just read on this blog about a family who had genetics testing that didn't really define things for them. And I have looking through "Ask the MitoDoc" on and reading things like,

the amount of mutant mitochondrial DNA is not always the same in every part of our body. So finding 0% mutant mitochondrial DNA in blood doesn't always mean that there is 0% present in muscle, brain, etc. That is one explanation for why some moms don't have the mutation, at least in blood. However, it is also possible that they not have it elsewhere in their body.
I also read something about the test we are having done really only having a 10% chance of showing mito disease.

The pediatrician just seems to be avoiding answering anything until we have a diagnosis. We're not sure if we're to go to the endocrinologist or the GI doctor to address the failure to thrive (FTT) in two of our children. We're not sure what all the variety of inconsistencies in tests really mean. We're not sure.... just the uncertainties again, and I'd better not work myself up too much listing it all out again.

But I am getting more unsure about our pediatrician. Is it really worth the drive? And what could I really expect from any doctor when there is the kind of history we have?

I just hope we can hear the results tomorrow. Even if it is nothing at all. I feel we've done all the testing from A through X. There would still be Y and Z to consider. Y is another muscle biopsy. If we've done everything from A through X, then why not just do Y and Z?

Both of our kids who died had muscle biopsies and skin biopsies. Our son's did show a certain characteristic of infant botulism, which is why that route was explored (and confirmed), but did not show anything else. There was no result found for our daughter (although the surgeon did tell us he thought the muscle looked a certain way to have justified the biopsy - still can't think of the term he used). So we have decided if something was definitely fatal for them, and we didn't get results, we wouldn't want to put other children through the test. But in all this reading, I'm learning that there are different ways to do a muscle biopsy. So if we don't get anything from the genetics test, I'll have to start wondering about the muscle biopsy again. We'd probably still hold off unless there were more extreme medical complications, but I don't know. Our kids who died didn't seem to be in extreme danger, but they were. So it's all that uncertainty again.

Wednesday, April 7, 2010

Still Waiting

I have been watching our online access for test results to see if the test we are waiting for is complete. There is a code that says "Call for Results" that has been posted for a few days. I've called the clinic, but they are only there one time a week. And if the doctor has conferences or other interfering commitments, they do not hold clinic that week. So I have been leaving messages, and just very much hoping for a reply.

I decided to look up the lab where the test is being performed to see if they could give us the results. They can not give results, but they could tell me if the test was completed. I guess it is good I called, so I don't keep calling to leave messages at the clinic. The test is not completed yet, and has a scheduled completion date of April 14th. That is only one more week! But it is still a whole one more week!

Really, I am trying not to get my hopes up that this test will have answers. It should give us answers if there is a mito disease caused by maternal inheritance. But because of the big range of inheritance factors, and the possibility that all the problems we are seeing are not actually mito disease, there is a real chance that this is not the test that is going to give us the diagnosis. And even if the test shows a result, it may not actually give us a diagnosis. It would give us more certainty that there is a mito disease, but we would not know exactly what that means other than there was a variation found that is indicative of mito disease.

So hoping for certainty in a world where uncertainty is the more common result would be foolish. Call me a fool for hoping, but I do understand the limitations.

In the meantime, I've really found it helpful to look over the material provided by organizations like those I've linked on my side-bar. Whether or not we ever have a diagnosis of mito disease, I have learned just how far-reaching the spectrum of diseases really is and how many people and families are affected. I am meeting other families who have questions and sometimes even answers, who are facing life with medical complexities and handling it all so admirably. My mind is intrigued by the advances we've made in medicine, and in understanding how much more areas we have not even come close to yet.

So we wait.

Saturday, April 3, 2010

Contemplating Maternal Inheritance

My own birth and beginning in life was complicated. I was hospitalized and there was great concern about my well-being. Obviously, I recovered and am still here today, and I was too unaware of the situation at the time to really understand what happened in any sort of detail. Fortunately, my mom kept a medical journal for me. I wish I had started this tradition when my own children were born so that I would have a more detailed account of the history that we have had with each of them.

I remember when I was very young being at a specialist's office with my sister. I don't remember much about the experience, except that the doctors were checking her throat and the bandages that were there. She is only about 19 months older than I am, and was born with over 90% of her body being covered in port wine stain birthmarks. Doctors were so concerned that they gave my mother very little hope that she would live past the age of two. And remarkably, this sister is also still alive today more than three decades later. Through adolescence, her body began to grow asymmetrically. She is constantly dealing with hemanginomas. She has had a variety of her own medical events over the years. Recently, she began to lose her hearing, found to be sensorineural hearing loss, and had other symptoms to raise concern about possible MS. An MRI did show some demyelination, but she has not had further testing for MS markers.

Waiting for the results of the whole mtDNA genome analysis on my youngest child has me thinking back over the extensive medical history of my own, my sisters, and my mother. Mitochondrial DNA is inherited only from the mother. There are a variety of patterns of inheritance for mitochondrial disease, but if the disease is caused by "mutant loads" of mtDNA, this would be maternal inheritance.

I know so little about such a complex topic. I am trying to understand more as we wait for these results. If the testing does not give us any answers, I won't know how to explain the medical history in my family. It is unsettling, and I am glad that awareness for the "orphan diseases" is increasing. Perhaps if we do not find answers now, technologies will improve enough in my life time to offer definitive results.

Friday, April 2, 2010


Because there are so many unexplained medical complexities in my family, including the deaths of two of our children, we are hoping to find a diagnosis to better help us understand the best treatment plan to pursue.

In 2001, when our son, Dominic, had a sudden cardiac-pulmonary arrest, he was resuscitated and flown to the Children's hospital. It was considered then that his crisis event was caused by an underlying mitochondrial disease. Barth Syndrome was a primary thought, and extensive testing was done while also investigating other possibilities. Before Dominic died, infant botulism was detected in his stools and blood samples also showed botulism. Because all the other testing was inconclusive or not revealing of any other cause, including the investigation for Barth Syndrome, we were told Dominic's event was caused by Infant Botulism.

Prior to 2001, we had a variety of medical concerns with other children. In childhood, both my husband and I had some interesting medical conditions. Nothing seemingly of fatal consequence, or even severe, but certainly enough to make you curious about whether or not these were random things or if there was an underlying thread. Discussions with the geneticist reassured us that there was no reason to think any other children would be susceptible to such a fatal event.

After Dominic died, we had more children with the idea that there was no genetic reason for the very rare infant botulism. Then, six years later, our daughter, Bridget, also had the same crisis event, was flown to the Children's hospital and then died. It was then decided that our son had actually died with botulism, and not from botulism, and that Dominic and Bridget shared an underlying thread, yet to be diagnosed. A complete autopsy, including brain pathology was inconclusive, although the suggestion of Leigh's Syndrome was made. Specialists argue whether this was an appropriate suggestion, and we are still left without a diagnosis.

More than two years later, we are seeing more and more concerns with our living children that make the doctors suspect mitochondrial disease. Abbreviated Mito, more and more families are learning that the variety of medical complexities a member or members of their family face are actually attributed to an underlying mitochondrial disease.

It is a very frustrating place to be to not have a diagnosis, and we are currently waiting on testing, hoping this test will really give us a diagnosis. With a diagnosis, we hope for direction.

To any other families who either are wondering, or who have doctors suggesting, that "it might be mito," I hope this can be a place to explore the variety of questions that go through your mind and have resources to help answer some of the questions.