The Search for Certainty (or, why we’re going to the dentist at 3.15pm)
October 28, 2008 by Kristina Chew, PhD
Filed under Health
For the past two weeks something’s been up with Charlie’s teeth, or so we think. He’s been chewing the string on his sweatshirt and his shirt and poking a finger into his mouth (on the upper right side, I think) and just dabbing at some parts of his teeth with his toothbrush (still brushing the fronts). This has certainly been the Year of Losing Teeth; there’ve been more than a few times when, after a fretful, unsettled day, Charlie has been found with a bloody tooth in his fingers. After a check-up in August, Charlie’s dentist noted that he was right on schedule to be losing so many teeth. This latest instance of possible-pain-in-the-mouth has been going on for awhile so Monday afternoon I found myself calling the dentist’s office and felt most fortunate when the office found him a 3.15pm appointment.
It would be nice to know that there’s a simple, straightforward, medical explanation for those sudden bouts of yowling. We’ve also been wondering about the general angst of adolescence which has at least (so far, for Charlie) proved to be a very tiring experience in which one day he wakes up and not a single pair of pants fits. But if I know that it is something specific—-even (alas) a potential cavity, or a sore in the mouth, or who knows what—this can be kind of reassuring. These sorts of problems can be solved. They have a name, they can be pointed to, and sometimes there’s even a specific thing that can be applied to “make it right.”
Pediatrician Kathy Rivers found out that her youngest child, John (born in 1999), has a mitochondrial disease in July 2005. As noted in yesterday’s Connecticut Post via the Washington Post), John had been diagnosed with autism after his second birthday; he had “severe digestive problems, epilepsy and poor muscle tone and was so irritable that he screamed for hours.” Rivers sought testing after “a doctor treating one of [her] children suggested that the underlying cause of their illnesses might be genetic, possibly an inborn error of metabolism, of which there are hundreds” in 2003. Her oldest daughter had “migraines, extreme hyperactivity and strange vomiting episodes that left her disoriented” as a young child but was “developmentally advanced”; her second daughter, Emily, was born with “hydrops fetalis, which involves a buildup of fluid around vital organs including the heart” and diagnosed with “severe cerebral palsy.” She cannot speak or sit up and requires round-the-clock care.
Rivers, her oldest daughter, and her son have all been “found to have abnormally low levels of carnitine and other suggestive indicators” and now take a “mito cocktail that Rivers said has significantly reduced their symptoms.” John is no longer considered to be autistic. While it’s not for certain, it seems that two of Rivers’ children inherited a mitochondrial disorder from her; it’s also suggested that Rivers’ second daughter’s condition “may actually be the result of severe mitochondrial disease.”
It was back in March that a connection between autism and mitochondrial diseases when the case of Hannah Poling was made public. It was conceded in the US Court of Federal Claims that Hannah’s “‘pre-existing mitochondrial disorder…. was ‘aggravated’ by her shots.’” Ever since, questions have been raised about how common mitochondrial diseases or dysfunction are in children with an autism diagnosis. Experts on mitochondrial disorders have been called to meet and there’s been some reported findings on a genetic link, and some concerns raised about one particular study about mitochondrial diseases and autism.
Unlike in Hannah Poling’s case, Kathy Rivers in the Connecticut Post article says that her son, who has been found to have a mitochondrial disease, is said to be no longer autistic, and to have benefited from a “mito cocktail.” And it sounds like the search for a correct diagnosis has indeed led to the right kind of treatment for Rivers’ children, and perhaps it’s this kind of impetus—this desire for certainty about what a child “has” and therefore about what can do about it—that fuels the drive to redefine autism as (as noted by a commenter yesterday) a “metabolic disorder,” as a medical and biological disorder and even a disease. Understand autism this way, and it makes it possible to conceive of particular remedies, whether or not these exist.
I’m hopeful about this afternoon’s dentist visit for Charlie, but I also get the feeling that we might find out something inconclusive, or something that we kind of suspected (”he’s got a molar coming in”). Am just going to have to keep making educated guesses and being ready to improvise when the time calls for it.
Matty and the dentist are not friends. I hate going unless absolutely necessary (like your situation). Matty has also been losing an insane amount of teeth. The last two days he has ran a slight fever with no other symptoms so I think he is getting one of those teeth back in. But he won’t open his mouth wide enough for us to look. So like you we keep guessing and hoping for a great big yawn!
Good luck with the dentist! It’s one of those visits that I am not particularly fond of taking Meghan to, although fortunately as she’s gotten older and more accustomed to it, the experience has become less traumatic, both for her and me.
She started going at 3 and has unfortunately inherited my family’s propensity towards bad teeth, so she gets cavities very easily. She’s had about 5 fillings in the past 2 years, mostly due to the fact that it used to take crowbar to even get a brush within five feet of her mouth. Now she happily lets her Diego toothbrush “eat those sugar bugs”. After all, cartoon characters need sustenance too. I can even get her to floss on occasion. I like five. It’s a good age.
Your comments about Charlie and adolescence are really interesting. Four was a rough year for us with Meghan – a lot of inflexibility, meltdowns, anxiety, fear, etc. Then suddenly this summer it was like someone flipped a switch and she suddenly had this ‘maturity’, this ability to take things more in stride. She was up for a re-eval with the ASD clinic at Kaiser and as we were discussing her developmental history, I had a light bulb moment. Ever since she was a baby, Meghan was always really fussy and disagreeable right before she hit a developmental milestone. It was actually kind of comforting for me as a parent because it was so predictable. Suddenly, all the issues we’d been having in her fourth year made a lot more sense when put in that perspective.
It was a good reminder for me that my kids are kids – they go through all the rigors of development like every other kid, albeit they have to process it through the autism filter. It funny how easy it can be to lose sight of the obvious sometimes as you go about living life.
My autistic son and the dentist are not friends either. I cringe when it’s time for my son’s annual check up. My son Brendan tries to brush his teeth but it’s not something he really likes to do. Big time sensory issues. We usually have to admit him to the local Children’s Hospital and they put him under general anesthesia to get everything accomplished. $10,000 dollars later. Thanks Christine for your wonderful posts.
Good luck with the dentist. I hate taking my kids to the dentist. My first was terrified of tooth brushes.
I guess we’re in the minority in that we like our dentist. Patrick had several ‘visits’ as a very young child where no dental work took place and over time he just got comfortable there.
Toothbrushing is a different story, but hey, I’ll take what I can get.
I’m in a bit of denial about adolescence even though it’s still quite a few years away.
C, our 12 year old son, seems to be doing okay with adolescence (keep the fingers crossed). The biggest issues we face are his changing body (not something he is at ALL comfortable with) and sexual attraction. Middle school’s the time the boyfriend/girlfriend thing really starts to happen, it seems, and being a pretty bright kid he’s aware of it but it makes him so uncomfortable he won’t even talk about it.
He told me that he’ll adopt a kid cause he doesn’t mind the idea of being a dad and that way he’d carry on the family name and make us grandparents. We talked a little bit about marriage being for more than just having kids and he finally conceded that maybe possibly in the way way future he MIGHT let himself be open to the possibility of meeting a girl someday and settling down.
I was okay with brushing my teeth, except that mostly I would just have the toothbrush hang in my mouth, and my parents had to pretend like it was a race so that I would actually brush. Even now, it takes me awhile to brush.
So, inquiring minds want to know–
How’d Charlie’s checkup go?
Kristina,
Yes, very good analogy and reference to Dr. Kathy Rivers story. The mitochondrial story is important for the reason that we are all searching for biological explanations for a multitude of symptoms manifest with ASDs. Perhaps this path with lead to promising new treatments and answers to help our children — table the vaccine-autism epidemiology and follow the science.
A friend pointed out this 2006 article on mito criteria to help guide who should have a muscle biopsy. I found it interesting that my child would have been considered in the ‘definite mitochondrial disorder’ category even without biopsy. I wonder how many others would as well, especially in the regressive category?
http://www.neurology.org/cgi/content/full/67/10/1823/T122
Other Autism docs like Dr. I Rapin have felt that no specific neuro-metabolic work-up is even indicated in Autism. That’s just it, there is no one answer to Autism and it will be a matter of teasing out the various subtypes based on biology.
Good luck at the dentist, hopefully there is fixable issue rather than– “it’s just the Autism.”
Jon Poling
Thanks for the link Dr. Poling. Unfortunately it just goes to a payment page without the title–
Would I be correct that this is the article?
Morava, E., van den Henvel, L., Hol, F., de Vries, M.C., Hogeveen, M., Rodenburg, R.J., Smeitink, J.A.M (2006). Mitochondrial disease criteria: Diagnostic applications in children. Neurology, 67, 1823-1826.
ABSTRACT
and,
Data Supplement to the article.
@jon poling,
thanks for sharing your thoughts and knowledge—-it was a good dentist visit, no cavities or anything and Charlie was mostly anxious because he wanted to get the dentist to make the chair go up…….
Kristina,
Very good with the dentist. Yes, my daughter had to go to the hospital yesterday for blood sample to monitor medication toxicity. She didn’t mind the needle because my colleagues at the hospital always “make me (Hannah) feel better” she says.
A mother the other day pointed out another positive benefit of the forward progress with mitochondrial issues in Autism. She lived in Canada and informed me that officials were threatening child abuse charges against her for blood draws and invasive tests to biomedically work-up Autism. Now with this new information (not really new– Dr. Coleman at Georgetown reported lactic acidosis in a subset of Autism in 1985); she can have her child evaluated appropriately.
Regan,
Yes you are correct with the reference. There is a very good table in the article. Unfortunately I cannot reproduce it to the web, as it’s copyrighted.
Jon Poling