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.

Tuesday, April 12, 2011

The Family Doctor

One of the most common answers I get to questions I ask our pediatrician is, "What does *the specialist think about it?"
*insert the relative specialist,though it's usually the geneticist/metabolic doc he refers to

It gets frustrating, and it makes it hard to know whether to go to the pediatrician when a new (or resurfacing) concern comes up, or if you're just supposed to consider the pediatrician an old friend who you knew in the "good old days" but aren't going to cross paths with again.

I've been working on organizing the Energy for Life walk, and thinking about some events we can do leading up to it that would help the community understand the importance of the walk.
I've contacted the largest network of medical facilities/professionals in our state, and hope they'll host a Grand Rounds session as part of Utah's Mitochondrial Disease Awareness Week in September.

Today, I saw an online article, written by a family physician who encourages others in the practice to learn more about mitochondrial disease. These insights from a General Practice doc are spot on.
He outlines the importance of education for a disease that is connected to so many other health concerns-- not to mention that it seems to me that mito is really the emerging health issue-- and I think he sums up nicely why a Grand Rounds would be a great thing for the medical community, and the community in general.

Here's some of what I read:
"...medicine requires us to learn constantly if we are not to become fossils ourselves, and many of us can benefit from learning more about mitochondrial disease.

"...the incidence of primary mitochondrial disease is relatively common, affecting up to 1 in 5000 people. Mitochondrial dysfunction secondary to other disease and as a side effect of drugs is even more common, and plays a role in Alz­heim­er disease and Parkinson disease, as well as the toxicity of some HIV anti­viral medications and even the ototoxicity effects of aminoglycosides.

"It is possible, indeed probable, that you have or will have a patient with a mitochondrial disease in your practice. As well as remembering that presentations of mitochondrial disease are myriad and involve multiple organ systems and modes of inheritance, family physicians must remember that individuals within the same family can manifest mitochondrial disease quite differently. The presenting signs may include diabetes, hearing loss, dementia, and arrhythmia—medical concerns in a family history that would inspire few to think immediately about the possibility of mitochondrial disease.

"As our recognition and knowledge of mitochondrial disease increase, we can provide better care to our patients. We can also expect new approaches to diagnosis and management to be built upon the knowledge base considered in this issue."

—Gordon B. Hutchinson, MD, CM, PhD, CCFP(EM)
Clinical Assistant Professor, Department of Family Medicine, University of British Columbia
BC Medical Journal- Issue: BCMJ, Vol. 53, No. 4, May 2011, page(s) Editorials

Monday, April 11, 2011

Out of Control

I was surprised that the clinic actually called us back on Friday. They were concerned with the radiology readings of the belly scan, and concerned it wouldn't be until the end of June to get our son seen with the new GI doctor. Because they aren't the primary care doctor, they aren't able to call for us, but they suggested strongly that we ask our pediatrician to work to get him in sooner. We have increased miralax, been giving fiber gummies (found at Costco for anyone wondering) and hopefully we'll keep the vomiting episodes down with that combination. If not, we can try a prescription of Zofran to see if that helps. It isn't perfect, but we're starting to have a little improvement.

I'll message our doctor and see what he wants to do, or can do. The doctor we are trying to see is only in clinic on Wednesday afternoons. So not only once a week, but only for half a day once a week. Our care manager was pleased to hear we had an appointment with this particular doc, and he comes highly recommended by other parents and our pediatrician. We've been seeing a GI doc, but it just feels like we go in circles there. I like him, but I just am not feeling like it's the right place for us to be with things escalating like this.

A hard thing to do is juggle the needs of your child, but I'm finding it more of a struggle because there is more than one child having trouble. My youngest had double ear infections and was very lethargic with that illness, and was not doing well until about the 4th day on antibiotics. Her heart rate was twice as fast as normal during that time (160-200 while sleeping). Her heart rate is still about 30bpm faster than before, and she's having a lot of trouble at night with constant reflux, and resulting breathing stuff (since we've had similar things with an older child, I assume this is all just reactive airway).

I have another child who I've been concerned about with some behaviors that we can't seem to manage well, and her posture is getting more and more into an "S" shape, along with increasing tiredness. She's the one that has periodic swelling around her eyes where we have to give her Benadryl. She is also quite thin, and has had lots of "quirks" in life. We seriously considered doing a Nissen on her, because her pH probe results were so severe. We consulted a few doctors, all encouraging us to do it (we were told it would be neglectful not to), but one doc said he felt since she wasn't aspirating, it wouldn't be wrong for us to not do it. We decided to take the devil we know with terrible reflux over the devil we don't. The surgery wouldn't have reduced her amounts of medication, and without aspirating, it seemed better not to go through with surgery. Sometimes I wonder if we made the right decision, but almost five years later, she still isn't getting pneumonias, though her reflux isn't really improved either.

I sometimes think it would have been better to have lived a hundred years ago. There weren't as many medical options to have to decide whether or not to use. It makes me sad to think that Dominic and Bridget may have died simply because I wasn't aggressive enough with medical treatments. Now, I know that I was doing all that would have been reasonably expected (even more, actually). I was very diligent about taking them to the pediatrician repeatedly, and doing everything that I was instructed to do. But sometimes I hear other parents talk about their children getting through medical difficulties without succumbing because they followed their instinct and wouldn't relent until doctors took them seriously enough. It just makes me nervous that I didn't do enough for them, so now, am I doing enough for these other kids?

And when there is more than one child who is struggling, where is the priority? Do you live your entire life living in medical facilities, trying to find the doctor who is going to tell you what you want to hear (but maybe you don't want to hear), but in the end not even being able to change the reality of the medical situation? Or if you do live your life going through every medical avenue possible, maybe you will change things and get more time in life - but is that the way to live your life, no matter how short or long it is?

Not having a clear diagnosis for what is underlying in my family does make me 2nd guess a whole lot more. I wish I could know if all the different things each child is dealing with is connected to the same underlying cause, or if they are all different. How aggressively do we get with trying to find answers, treatments, and relief? How much money do we spend, or time? Will all that investment result in anything improving?

I have my own set of difficulties. Things are so complex, and even the specialists aren't sure what to say about it. The insurance we're on doesn't have a neuro-geneticist who works with adults, but that is supposedly the specialist for me to see. They're working on getting a special exception. In the meantime, I was told to gather records, and it's been a lot of things brought back up. The autopsies of both the kids, the multiple visits to so many clinics and doctors and hospitals, with so many tests and procedures. I wonder if it's possible for them to take time and comb through it all to even get a clear answer. And then I wonder if it isn't all just a red-herring, to think that somehow it's all connected, but maybe it's not?

I read a blog of a mother who has lost a child. She is pregnant with another child, and it was discovered there are some concerns with the baby's heart. I read her post and admired her peace with it, and her resolve and insight. She wrote, "I will be okay. I will not sit up in the wee hours of the morning. Google search after Google search. Getting educated. Trying to gain some control. When I have none." It made me reflect on the long nights I've spent typing in symptoms, hoping to find a common thread to lead me to some suggestion of a diagnosis. I thought of all the medical papers I've read, some just abstracts because I did't have access to the full site, and how I didn't even know what so many of the words really meant, but I thought for sure that something in that paper would give me answers if I just knew how to interpret it. How many times I've read and re-read the doctors notes and lab and test results, looking for something that would clearly identify what it is that claimed two of my children, and may be the root of so many other struggles for the rest of us. But her words felt like a gentle rebuke for all the effort I have made, in vain. "Trying to gain some control. When I have none."

Truly. I have none. No matter how hard I've tried to help our kids, or myself, I was powerless to save Dominic and Bridget. I can't say it is because of all the various medical this or that we have done that has kept my other kids alive. I don't know that my own health is improved any from all the testing and procedures and medications that have come my way. I have no control. That is what is emphasized in uncertainty, that makes me yearn for the certainty - as if having a diagnosis would give me control.

I don't want to make it seem I am so ignorant and naive to believe I'd gain control, fully, with a diagnosis. I do think, though, there is power in knowing what you are facing. And by naming, we have power. You can make more clear decisions about how much intervention is too much. If it's better to just live life free of the medicines and tests and visits to this or that medical facility, and fill your life with the things you enjoy (because truly, who really likes being at doctor appointments, hospitals, clinics, labs, etc.).

But ultimately, I have no control.

So I'll try to navigate through the best I know how. Feeling inadequate. Second-guessing. And absolutely hoping, that the One who is in control will be gentle with us.

Friday, April 8, 2011

A Long Road

Last night we took our youngest son in to the late night kid's clinic. We'd been messaging back and forth with the pediatrician about how his vomiting episodes were increasing, along with still just not being able to help him with regularity in the bathroom even with the miralax dose recommended by the specialist. We'd felt frustrated that the GI doctor never seemed to have anything new to offer. And though he wasn't getting dehydrated, or seeming to be in pain or otherwise sick, these problems just were getting to worry us more. We agreed to have a new GI doctor involved to get a fresh look, but he is booked until the end of June. So I wondered what to do in the meantime. The pediatrician just though it a good idea to have him seen to make sure we weren't missing something that could be addressed now.

So we went to the clinic. The first thing the doctor said was, "I had a chance to look at [his] chart." We talked about the increased vomiting episodes, and how we've been dealing with these his whole life, but that suddenly he's been having them with much more frequency. He also is having more difficulty in the bathroom. Tried to sum up the GI road that we've been on with him since he was a newborn in the NICU on TPN. And I thought I did a good job of not going into too much detail and staying focused on the current concerns. But then the doctor asked what we thought he was going to be able to do. That he wasn't going to be able to find an answer for us. I was surprised. I didn't even think at all that we were going to get THE answer in this quick visit to the clinic.

After the belly scan that used the same word as the one he had when he was hospitalized a few years ago - ileus - he said we were doing what he thought needed to be done, and continue down the road to the GI doctor we're scheduled to see in June.

It made me think about how long we've been on this journey of trying to figure things out. My oldest was a year old, with a "cold" that never would go away. We were in the pediatrician's office while he pulled viscous ropes of mucus from her nose, the length and diameter of a pencil. I remember the panic in his voice as he said, "have we talked about cystic fibrosis before?" It was the first time I'd heard the term. She was not really small, on the charts at about 25th-percentile. But this unusual discharge I guess had him worried. We did the sweat-chloride test, with the resulting negative. She had her adenoids out, and then things were fine. Other than some sensory concerns, and diminished social interactions with other peers her age, we didn't really have any worries about her health.

Our second child, though, was constantly ill. He struggled with reflux, sensory issues, feeding issues, recurring illnesses, failure to thrive, speech delay, coordination problems... We were always trying to figure things out with him. Eventually we found this or that to explain that or this... but there was never a clear picture. We just figured it was his set of quirks to deal with in life. I still remember when I'd take him in for his same-day surgeries, looking around seeing kids who were obviously so much more sick than he was, thinking how grateful I was that his "quirks" weren't life-threatening.

Our third child had to be resuscitated after being born via emergency c-sec. Proplapsed cord, with no trace on the monitor, no pulse in the cord. Five weeks early, she only had to be under the oxygen hood for about half an hour, and she seemed fine. She nursed well. Her sugars were a little off, and she had a little trouble keeping her temperature, but that was all just her prematurity. The bilirubin issue she had we had with the other two, and was also expected with prematurity. But then she struggled to grow, had recurring infections, reached milestones late, had lethargy.... a couple of times the doctor was wondering if some of what we described wasn't seizures. The EKG did suggest some concerns, but then said overall was a normal result. But again, it was a lot of "quirks" and we could be greatful it wasn't anything severe.

Then our fourth child was born. Dominic was only three weeks early. He needed to be suctioned after he was born, but then he seemed okay. He did well with nursing, but would tire easily. He was a very good baby. He also had the bilirubin issue, with the ensuing light therapy. We were concerned when he wasn't growing well, and he also was very tired. Newborns sleep a lot, though. When he started having orange spots in his diaper, I became more concerned. He would go six days without pooping, although he was breastfed. He wasn't growing. We wondered if he just wasn't getting enough milk, but when we gave him prune juice, he exploded, literally covered from head to toe and everything around him covered. It was all in there just backing up. But the doctor was happy he was making progress, even though slow. He was not reaching milestones on time, but still "within the range of normal, just on the slower end of normal." He wasn't holding his head up, couldn't roll over, was sleepy, lethargic, floppy. He hardly cried. He was a pretty happy baby, though. Then he started breathing in a way that worried me. It just didn't seem right. A nurse with the early intervention program came out to work with him, and she agreed it looked different, but thought it might just be his anatomy. She gave me a fancy medical term for it and told me to ask the doctor about it when I saw them next. I took him in when he was throwing up. It didn't just seem like typical reflux. I pointed out the breathing issue, and was told it wasn't what the nurse said it was, but it was probably just because he had a virus, and we should give him tylenol and he'd be fine. It was a Sunday, so it was the on-call doctor, and he instructed us to follow-up with our pediatrician the following-day (Monday)- and I did. Dominic was doing a lot better that day. I took him back on Thursday for a weight-check and they thought he was doing great. That afternoon, I remember thinking he'd stopped breathing. Then I convinced myself I was imagining it because when I kept checking, I finally saw him take a breath. On Saturday morning, he had his crisis event, and died 6 days later.

Why did he die? I was first introduced to Mitochondrial Disease when Dominic was flown to the PICU. They thought because his 3-methylglutaconic acid level was so elevated, that his history prior was consistent, and another few things that it all added up to Barth's Syndrome. Since our oldest boy was also hypotonic and suffered from so many interesting but not fully explained medical things, there was even question if he could be sick. We tested his 3-methylglutaconic acid levels, with the resulting normal levels. And during the muscle biopsy on Dominic, the abnormal appearance reminded the neurologist of only one other time she'd seen muscle that looked like that -in a case of infant botulism. Suddenly, the answer wasn't a mitochondrial disease, but botulism. So that is what is written on his death certificate.

We traveled the road with another child who struggled to grow, severe reflux, breathing issues, hypotonia.... Then our youngest son, who was in the NICU having all sorts of difficulties, and even when we brought him home, never really fully kept up and threw all sorts of curve balls... the same son we just took in again last night for the recurring vomiting. Then Bridget was born, five weeks early. Same failure to thrive, but she had the most difficulty with feeding of all of our kids. She was fine and had a great suck for the first four days, but crashed after intensive light therapy for jaundice - for over 24hrs without an IV and only getting the milk a mother produces at 3-4 days postpartem. So she got dehydrated, and crashed, and from that point on she never was strong enough to really nurse well, or even fully take a bottle. We struggled with that until she also had the same crisis event Dominic had, she was flown to the PICU, and died.

They decided then that Dominic had died from an underlying genetic disorder, likely a metabolic or mitochondrial disease. He had died with botulism, but not from it. And Bridget had died from the same underlying condition. But did any of our other kids have the same underlying condition? When Bridget's autopsy suggested Leigh Syndrome or Leigh-like syndrome, I started to learn more about mitochondrial disease. Our youngest son had an MRI and MRS to rule out Leigh Syndrome (normal results, with no lactate). And we had one more child, who has had so many difficulties in her life, also. But there is still no answers to give a clear explanation for everything.

I don't know why the doctor noting that he wasn't going to be able to give us an answer to what was causing our son's vomiting episodes bothered me. I was surprised he thought we might actually expect that from him. But I also think it was just finally having anyone from the medical community put it bluntly - I am not going to be able to give you answers.

It has been just over nine and a half years since we were in the PICU with Dominic, contemplating for the first time that our family might be affected with Mitochondrial Disease. I sometimes get very angry about the 9/11 attacks that grounded the fed ex planes with all of my family's samples that were being sent to be studied. Because I wonder if maybe something would have been identified. I still remember how my sister's birthmark, a port-wine stain over 95% or her body, made the neurologist think of another family who had an individual with the same condition, and that family had been diagnosed with Barth's Syndrome. Though it wouldn't explain Bridget's death, so I don't think Barth's Syndrome is the correct diagnosis, it does make me wonder if there is a connection.

We're still on this road. I'm running out of gas, though. In some ways, I feel like I did in the hospital when my son would have his same-day surgeries - looking around seeing kids who were obviously so much more sick than my kids are, thinking how grateful I am that the "quirks" aren't life-threatening... but Dominic and Bridget died, even though they never seemed "that sick." So I can't trust it is just a lot of "quirks." And though I wouldn't want my kids to be more sick, it's frustrating knowing that the doctors don't think it's too important to rush to find an answer because they have other kids to help who are much more sick. It makes me wonder, if in nine and a half years trying to figure it out, and two dead children, and multiple hospitalizations, testing, illnesses.... will we ever get to the end of this road? I hope there are no more surprises in the journey. That I can be grateful, that though I grieve for my two little ones, that the other six are still here and they aren't dealing with life-threatening illnesses and just have some quirks. But there is something with my kids, that though they are not that sick, they aren't that well, either. It makes me nervous. It makes me angry, because like the doctor said last night - I can't give you an answer.