Wednesday, November 10, 2010

Nuclear DNA Testing

Today we received a kit for sending in a sample to be used for a Nuclear DNA test that specifically is looking for gene defects that would result in mitochondrial disease. I've been in contact with our insurance, the geneticist/metabolic specialist that is following our family, and a rep for the company that does the test.

Outside of the cost, I'm contemplating many things about the testing. Is this going to set me up for more disappointment that we still are no closer to knowing what caused two of my children to die, and other children to have concerning symptoms? Will there be consequences for future health coverage if the test does have findings that identify specific gene defects? If we do get answers, is the condition treatable or curable? If we don't get answers, is it because we're asking the wrong questions? And if so, what questions are we supposed to ask?

My youngest has been doing remarkably well lately. But there are some things still persisting that worry me, and some new things, too. And our youngest son also has some things that still really make me hope to find an answer soon. There are other things going on with the kids that I wish I could know if they were related to some underlying thing, or just stand-alone problems. My own health seems to be declining (although I still consider myself in good health, with no major systems having too much trouble).

I go through lists of things to try and determine which direction to go: 1) There is something severe enough in our family to have caused two children to die, 2) there are a myriad of symptoms in the family that are consistent with mitochondrial disease, 3) testing we have done so far is inconclusive and does not give a clear diagnosis of mitochondrial disease, but at the same time does not rule it out, 4) and testing has not shed any light as to another direction for a diagnosis outside of mitochondrial disease, other than those things that have already been tested for and ruled out (cystic fibrosis, as one example.)

But I am reluctant. Why? I think cost is a big issue. I know that we are trying to work it out for insurance to cover most of the costs, and the company that created the test will work to absorb whatever remains. But we have been told that before but then been left with the hassle of bills we weren't expecting. Yet, I think about how when Dominic and Bridget were in the PICU and how I would start to worry about cost, and then I would think how I would pay anything to keep them alive. How much is it worth to know - even to have the chance to know?

I think my biggest reluctance is that I've hoped so many times for an answer. I think part of me is afraid of knowing that there is a problem. I would be facing a reality of something with a name. But, really, I think I'm more afraid of finding that of all the known answers there could be, none of them are our answer. It means I would still be facing the reality of whatever the problem is that took the lives of two of my children, and affects our other children in the variety of ways. But. We would still not have a name. And we would have exhausted all the ways we have to find a name. And that to me would feel like I've lost hope. I've felt it when I held the results of the last test result in my hands, looking over it again and again hoping somehow I could read something from it that would be the one thing they hadn't noticed that would reveal the answer to us.

So I have a kit here ready for us to use to send a sample in. And I'll wait to see what more comes from our discussions with the insurance, the specialists, and the rep from the company who does the test. And I'll hope. But I'll hope I don't hope too much.

Tuesday, September 28, 2010

New Development in Testing for Mitochondrial Disease

A new test which may be more accurate and sensitive for diagnosing (or perhaps ruling out?) mitochondrial disease was announced. This new development in testing comes from MEDomics. As a family who has gone through so many tests and procedures hoping to find answers, I am hopeful but apprehensive. What is the cost of the test? The availability? Can it definitively diagnose or in the absence of diagnosis, definitively rule out mitochondrial disease? But I have to ask so many questions because for our family there still are not answers. And so I am quite interested in learning more about developments like this to help us finally have those answers.

Here is a copy of the press release:

PRLog (Press Release)Sep 28, 2010 – Los Angeles, CA – Mitochondrial diseases - little-known and often misdiagnosed affect millions of people, especially children with devastating consequences. But a new and more sensitive test can provide earlier, more accurate diagnosis and allow potentially life- saving treatment to begin sooner.

MEDomics, LLC, has completed its second set of novel MitoDx™ personalized medicine tests for the diagnosis of mitochondrial diseases.

“The first MitoDx test was performed on a young girl (referred to as Ann) with mitochondrial disease and hypoglycemia”, says Steve Sommer, MD, PhD, Founder and Medical Director of MEDomics. Ann had episodic vomiting that lasted hours or even days. She often had periods of lethargy and fatigue. Ann was sensitive to both heat and cold, and had poor muscle tone and poor coordination. She has had multiple hospitalizations and almost died. After inconclusive testing and several misdiagnoses, Ann was ultimately referred to Richard Boles, MD, a specialist in pediatric mitochondrial disease at Children's Hospital Los Angeles where she was diagnosed clinically with probable mitochondrial disease.

Ann’s entire mitochondrial genome was sequenced, not once or twice, but thousands of times. The revolutionary SOLiD NextGen sequencing platform developed by Life Technologies was used for testing because of its low error rate and high throughput. This rigorous sequencing of mitochondrial DNA by MitoDx can detect mixtures (heteroplasmy) of normal and mutant DNA even when the mutant or normal form is present at very low levels. This allows mitochondrial disease to be evaluated much more sensitively in an accessible tissue like blood or saliva.

The MEDomics team of experts, provides interpretation of the functional significance of detected mutations. This comprehensive test offers exceptionally high diagnostic utility for suspected mitochondrial disease, enabling potentially lifesaving therapy and accurate risk counseling.

Richard Boles, MD, the Director of the Mitochondrial and Metabolic Disorders Clinic at Childrens Hospital Los Angeles says, “MitoDx has confirmed the patient’s clinical diagnosis of probable mitochondrial disease. The MitoDx diagnosis of mitochondrial disease has helped Ann and her family in the following ways:

* the family now has a diagnosis synergistically supported by clinical and laboratory evidence
* the location of the putative mutation suggests that Ann’s life-threatening hypoglycemia will improve as she gets older
* Ann’s clinical management will be modified
* Ann’s asymptomatic sister can be tested to assess the likelihood that she will have symptomatic mitochondrial disease in the future
* other family members, including Ann’s aunt, can be tested to determine their risk of having a child with mitochondrial disease. “

Mitochondrial diseases can be difficult to diagnose. Organs generally have different levels of the mutation, so the symptoms are extremely diverse and depend on which tissues happen to be the most energy compromised in a given family member. The most commonly affected organs are brain, muscle, eye, gastrointestinal tract, and heart. If a given mutation is at high frequency in the brain and intestine, neurological and gastrointestinal symptoms may predominate; if the mutation is at high frequency in the muscle and intestine in a sibling, neuromuscular and gastrointestinal symptoms may predominate.

Dr. Sommer says, “While there is no cure as yet, the diagnosis of mitochondrial disease can save lives by enabling effective treatment. Current treatment involves increasing available energy, decreasing energy stressors, and tissue-specific treatments.”

For more information on MitoDx and diagnosis of mitochondrial disease, visit http://www.medomics.com

About MEDomics:
MEDomics is a molecular diagnostic laboratory founded in 2008 by Steve S. Sommer, MD, PhD, with the mission of providing Mutation Expert-based Diagnosis (“MED”) to support the physician in delivering personalized medicine based on genomic analyses of the patient’s DNA (“omics”). The mutation experts at MEDomics provide unparalleled quality interpretation to aid the practicing physician.

Dr. Sommer, Founder, President, and Medical Director of MEDomics, is a Founding Fellow of the American College of Medical Genetics with 25 years experience in Clinical Molecular Diagnosis and over 300 scientific publications and patents. Carolyn Buzin, PhD, is a MEDomics Senior Scientist, a California licensed Clinical Genetics Molecular Biologist Scientist, and a mutation expert in mitochondrial disease. Richard Boles, MD, Director of the Mitochondrial and Metabolic Disorders Clinic at Childrens Hospital Los Angeles, is a distinguished clinical consultant for MEDomics on mitochondrial diseases.

Sunday, September 19, 2010

Know About MITO


Mitochondrial Disease Awareness Week (Sept 19 - 25)

What do you know about mito? Mitochondrial Disease? Mitochondrial disease is a chronic, genetic* disorder. that occurs when the mitochondria of the cell fails to produce enough energy for cell or organ function.

Did you know...
  • The disease is approaching the frequency of childhood cancers.
  • There is no reliable and consistent means of diagnosis.
  • Mitochondrial disease presents very differently from individual to individual.
  • There is no reliable and consistent means of diagnosis for mitochondrial disease.
  • Diagnosis can be made by one of the few physicians that specializes in mitochondrial disease.
  • Though blood DNA testing and/or muscle biopsy can be used to diagnose mitochondrial disease, neither of these tests are completely reliable and are also costly.
  • The incidence is about 1:3000-4000 individuals in the US. This is similar to the incidence of cystic fibrosis of caucasian births in the U.S.
  • There are many forms of mitochondrial disease
  • Mitochondria exist in nearly every cell of the human body, producing 90 percent of the energy the body needs to function.
  • Mitochondrial disease is inherited in a number of different ways
  • There may be one individual in a family or many individuals affected over a number of generations.
  • About one in 4,000 children in the United States will develop mitochondrial disease by the age of 10 years.
  • In adults, many diseases of aging have been found to have defects of mitochondrial function, including (but not limited t0) type 2 diabetes, Parkinson's disease, atherosclerotic heart disease, stroke, Alzheimer's disease, and cancer. In addition, many medicines can injure the mitochondria.
  • Even a simple flu or cold virus can have devastating effects on the patient with mitochondrial disease, even death.
  • Every 30 minutes, a child is born who will develop a mitochondrial disease by age 10
Learn more at UMDF and MitoAction! Then spread the word. Know about Mito!

*An uncertain percentage of patients acquire symptoms due to other factors, including mitochondrial toxins.

Tuesday, July 6, 2010

Energy for Life Walk


I recently joined UMDF, and have been receiving newsletter updates. One of the latest announced an upcoming event in Chicago - a 5K walk called Energy for Life Walkathon. Since my family lives in Utah, we are much too far away from Chicago to participate, but I wanted to know more. I went to the website and saw that other areas had their own Energy for Life Walkathon, but I could not find one for our area.

I couldn't find a way to stop thinking about the event, either. I decided to begin organizing one in our area. I don't have time to have it this fall like the other walks that are planned, but figured I could get going now for next year. When I looked at the calendar to decide which day would be best, I felt that Saturday, September 10, 2011 would work best. Why?

UMDF is focusing on September to have states across this country set aside a week for awareness of Mitochondrial disorder. Most of the other walks organized are being held in September primarily for this reason. Dominic and Bridget both died in September. Both had their crisis events in September. They both had their events on the 2nd Saturday in September (9-8-01 and 9-8-07), and the 10th will be the 2nd Saturday in September next year. Both of them were in the PICU on September 10th, the anniversary of my Grandma's death, who died on September 10th the year I was born (I was just days old when she died). And all these reasons plus the sheer coolness of the date 9-10-11 make it the most logical day to have this event.

We still don't know if Dominic and Bridget died from a Mitochondrial disorder/disease. We don't know if others in our family (and even I am starting to have some worrisome symptoms) are affected by mito disease. But until there is more research done, diagnosing or ruling out the diagnosis will make families like mine continue to merely hope for an answer, while those with a diagnosis are left waiting for a cure and even FDA approved treatments. There are many good reasons to bring awareness to UMDF and Mitochondrial disorders, so even if someday we learn that our family was not actually impacted with a mito condition, it is still a worthwhile endeavor.

If anyone reading this is interested in joining our committee to organize an Energy for Life Walkathon here in Utah, please join us on Facebook.

Sunday, May 16, 2010

Just Another Day

It's about 70 degrees outside right now, and our youngest son is obviously impacted with heat intolerance. I wonder if a StaCool vest, or other type of cooling jacket/vest would help him. We went for a walk last week when the temperature was in the sixties, and he still was overheating. He doesn't actually walk with us. He still rides in the stroller. He has short stature, so his legs are small and he just tires easily. I still wonder if he is being affected by a mito issue, or if that doesn't play into this at all

Our youngest also is affected by the heat, but not as quickly as her brother. She seems to have more energy, but is not growing well either. She is nearly two years old (in just a few weeks) and has still not at twenty pounds. She did just have surgery two and half weeks ago which made her less willing to eat, but overall she has struggled to grow. We are considering a G-tube placement for a few months to give her a chance to get calories without having to work so hard for it. We aren't sure if we will go ahead with the idea, but are at least considering it.

We met with an endocrinologist who ordered labs and x-ray studies for these two. The x-ray studies don't show any significant delay in bone growth. We are still waiting to hear on the labs, but they have been done before and were on the lower end of normal last time. They are for insulin-like growth factor (something like that). The doctor says they will really just have them on their radar but will be conservative about any interventions. So other than the G-tube discussion, probably won't recommend anything else at this point. He says perhaps their smallness is a consequence of just the overall genetic make-up they inherited related to size, not some kind of indication there's a problem. I don't know, but these two seem excessively small to me. Not to mention our son who has food aversions and really doesn't eat much at all. I was surprised that the G-tube wasn't recommended for him, but the doctor says his height/weight proportion is actually about right. He didn't note his extremely large head circumference with this, which makes me wonder if the rest of him is supposed to be in ratio to his head, but his lack of eating well is keeping him from growing. I just worry.

In only five days, our youngest son will be 5 years old. He is still wearing size 2T pants. He weighs about 33lbs, and is about 38" tall. Our youngest will be two in a few weeks and is about 19.8lbs, and about 31" tall. She wears size 6-12mth clothes, although they are starting too look to short for her - but the larger clothes are too loose for her because she is too thin.

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

Results?

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 UMDF.org 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

Questions

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.