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