Category Archives: Health

Fork Theory

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This is copied nearly verbatim from my Tumblr, from whence it managed to become Facebook viral.

Have I told y’all about my husband’s Fork Theory?

So the Spoon Theory is a fundamental metaphor used often in the chronic pain/chronic illness communities to explain to non-spoonies why life is harder for them. It’s super useful and we use that all the time.

But it has a corollary.

You know the phrase, “Stick a fork in me, I’m done,” right?

Well, Fork Theory is that one has a Fork Limit, that is, you can probably cope okay with one fork stuck in you, maybe two or three, but at some point you will lose your shit if one more fork happens.

A fork could range from being hungry or having to pee to getting a new bill or a new diagnosis of illness. There are lots of different sizes of forks, and volume vs. quantity means that the fork limit is not absolute. I might be able to deal with 20 tiny little escargot fork annoyances, such as a hangnail or slightly suboptimal pants, but not even one “you poked my trigger on purpose because you think it’s fun to see me melt down” pitchfork.

This is super relevant for neurodivergent folk. Like, you might be able to deal with your feet being cold or a tag, but not both. Hubby describes the situation as “It may seem weird that I just get up and leave the conversation to go to the bathroom, but you just dumped a new financial burden on me and I already had to pee, and going to the bathroom is the fork I can get rid of the fastest.”

From Tumblr reactions to this, we got a few new words and phrases, the best of which is probably “Forkupine”. The grand unification is “Spork theory”.
One person came up with a corollary of the corollary, a “dish” theory, about the idea of “load bearing supports”, i.e. things that help in case of lack of spoons, or things that protect you from being stuck by a fork.
Having words for a thing often makes it easier to cope.
This is not unlike the idea of the straw that broke the camel’s back, but I find it a more functional and hopeful metaphor, because it tells us that when the forks are removed, in whatever order, we can cope better. A broken back is a broken back, and implies helplessness.
At this posting, I know of approximately 28,000 Tumblr notes and almost 9000 Facebook shares.
ETA:
A couple people have asked if they can use the Fork Theory if they’re not (fill in whatever, I don’t care.)

The short answer is, “Of course.”

I’d like to just say that gatekeeping takes up too much energy, uses too many spoons and sticks forks in people.

Both hubby and I deal with chronic mental and physical health issues. Mine are more obvious–severe rheumatoid arthritis on top of a stack of other issues will do that to you. But “running out of spoons” happens even to people who do have the physical ability to exercise, for example. Just because someone starts out their day with more spoons, or bigger spoons, doesn’t mean they can’t run out. And EVERYONE has a fork limit.

This was designed to be a corollary, not a substitute, and I would not for a second limit who could use this idea. Everyone, disabled or not, has limits to what they can take.

In fact, the difference, in many cases, between an able-bodied person and a disabled person, between a person without mental health diagnoses and someone with mental health diagnoses is very small, and can be encompassed by one word.

The word?

YET.

You live long enough, life is going to throw trauma your way. You live long enough, you will experience disability.

And if you don’t, well, apparently you are terminally unlucky.

Seriously, gatekeeping this particular thing is a zero sum game and I really wish people wouldn’t. We need the curb cutter effect of able-bodied people understanding our metaphors. Of being able to shorthand something and have someone else go, “Ah, I understand.”

It’s tempting for me, with how disabled I am, how much more disabled I’ve been at times, to think, “Oh, no one could really understand how bad this is” with the undercurrent of (I assume I’m handling this badly compared to everyone else, but if I’m the only one feeling this way, and others don’t understand, then it’s not my fault.)

The fact of the matter is that disability is hard, and isolating and literally anyone who went through what I have gone through would have a hard time with it. I don’t have to feel guilty about not dealing very well with it.

My sister said to me once, and it stuck with me forever, “This shit is objectively hard.”

And yeah, RA is. Lupus is. Thyroiditis and Ehlers Danlos and allergies and asthma and sleep apnea and depression and isolation and dealing with the current political situation and worrying about money and stressing about jobs and kids and and and and… this stuff is hard. Lots of people can deal okay with a couple of issues, some people deal gracefully with some huge issues and most of us? Just muddle along doing our best and it would behoove us to assume that others are also trying.

We discover in our online communities commonality of experience, that we are not alone in our not-dealing-very-well, that when some people are dealing better it may be because they have more resources or know information that they can share with others.

If we forget that the reason we come together is for understanding, and start to shut people out… we’re just part of someone else’s bad day. And I’d rather not.

(Oh, and as for the knife theory, it’s pretty damn simple… in this context, knives are the things you bleed from when you pull them out, the things that make triggers, the lasting traumas, the actual aggression. They’re the things you may need medical or mental health attention to heal from.)

Just to be clear

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My gender is not open for debate, negotiation, discussion or outside opinions. If you do not live in this skin, you don’t get to have a say in my gender identity, period, and the ONLY thing your negative opinion can do is alienate me.
 
If I share with you the name I am considering changing my name to, feel honored that I trusted you with it, and don’t tell me what you think of it, I don’t care if you don’t like it, but if you say something negative I’ll think less of you for it.
 
My pronouns are they/them. I will start correcting people on this if they don’t correct themselves.
 
My sister calls me sibling. My kids still call me Mom. I refer to myself as my husband’s spouse. I’m still my niece’s aunt. I do not use woman, girl, she, her, wife or sister much anymore.
 
I DO understand that it takes time to adapt to change and that no one will be 100% on this stuff immediately, and if you slip I’m not going to be mad, but if you don’t even try, I probably won’t trust you very much.
 
This is not new. I’ve been struggling with the gender binary since childhood, I simply didn’t have the language to describe myself and my experience until the past few years. I came out as nonbinary about 3 years ago, give or take.
 
I’m not asking for your opinion. I’m asking for your support. You don’t have to understand in order to treat me with respect.

Sexual Harassment: Now You See It. Why didn’t you before?

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A black and white image of empty theater seats, curving at an angle away from the viewer

sexual harassment accusations are emptying a lot of seats

Red Flags and Shock Fatigue

Sexual harassment is bringing down a lot of people’s heroes. Not so many of mine.

The only Woody Allen movie I’ve ever managed to sit all the way through was Antz.

I feel about him the way I do about tempeh. Other people have ordered tempeh and told me, “Oh, this is the best tempeh I’ve ever had!” and I’ve tried a bite, and honestly? Tempeh tastes like rot to me, and not in a good way.

I tried to watch Annie Hall, and not very far in, something in my stomach churned, and I turned it off and watched something else. I don’t even remember at what point that happened in the movie, or what triggered it.

Sometimes very good storytellers have a skewed view of the world, and those of us who see the skew recoil from the stories. Not every well-told story is good. When the allegations against him came out, something in me breathed a sigh—not of relief, just a momentary, “Of course”— as I finally got an explanation for an instinctive recoil.

We’ve known about him for years. He keeps making movies. I keep not watching them. Will the known abusers now face consequences?

Continue reading→

Drinking Games as Coping Measures

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So, drinking games are a super bad idea in reality, if done with alcohol, and probably literally no one should ever actually do that, because it can be actually dangerous.

THAT SAID… the concept of sussing out the tropes in advance and mentally taking a swig whenever a doozy comes up?

Is incredibly useful as a mental health technique, especially around issues of trauma and health, such as after a miscarriage, after a diagnosis, divorce, etc.

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no more shots

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On to a new oral drug. lefluf something, IDK, i’m not allergic to it and it’s making me a little tired but not poisoned. And many more steroids.

I’m not going on LJ anymore. Everything’s on Dreamwidth (jenrose) and here, and I’m on Tumblr.

 

Just a little poison

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Sometimes it’s really hard to write about other people’s happy times when it reminds me of when I was strong and thought I could do almost anything.

Sometimes it’s an escape, but sometimes it’s just a really rough reminder of how hard I’m struggling right now.

The true answer to “How are you” behind the cut. It ain’t pretty.

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What helped with my depression?

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CW: frank discussion of depression, with mentions of body dysphoria, mostly upbeat.

I was answering this question in a private message, and decided to flesh it out here in case it helps someone.

What helped with my depression, behind the cut.

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Understanding Gender: A Guide for Kids

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When a baby is born, the first thing everyone wants to know is, “Is it a boy or a girl?” Even during pregnancy, parents often have an ultrasound scan, to look at a baby’s body and find out whether their baby has “boy parts” or “girl parts” before the child is born.

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Bullying prevention

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Schools are responsible for setting the tone of the school and keeping kids safe at school, but in order to do so they often require a sea change in how they handle reports of mistreatment, as well as how they train the kids.

  • We need to train kids through programs like peer mediation, which teaches kids how to handle problems in fair ways through talking.
  • We need schoolwide, consistent programs like “The Three Bees” (Be safe, be responsible, be respectful).
  • We need to actively ask kids to be heroes, rather than villains. In larger schools this might mean setting up buddy programs where kids who are afraid can ask for help and get several older kids who volunteer to walk with them in “high risk” settings (between classes, after school).
  • Adults need to adopt a “believe the victim” mentality. This doesn’t mean coming down like a hammer on every accused, this means LISTENING to every child. Even the bullies. Because in many cases, bullies ARE victims, struggling for control anywhere they can find it.
  • Toxic school cultures like “Don’t be a tattle tale” and “Boys will be boys” need to stop. Kids need to be actively trained to treat people well. I don’t care how “innocent” children are, toddlers and preschoolers can be mercenary little bastards and while some are tenderhearted and empathetic from the get go, a lot of them really need to be actively trained not to hurt people to get what they want.
  • Consent culture MUST be taught.
  • Bodily autonomy MUST be taught.
  • A child who bullies needs to be trained, not suspended. They need to be isolated from the child who is bullied.
  • Children need to be taught to understand boundaries and be allowed to set boundaries and have their boundaries respected. This starts with things like saying “stop tickling me” and having the tickling stop. And maybe the idea that tickling without asking isn’t funny.
  • We need to communicate everywhere that “We don’t treat people like that. We don’t allow people to be treated like that. We don’t let our friends treat people like that.”
  • We need to teach adults to listen, to mediate, to problem solve, to look for underlying issues rather than just bad behavior.
  • We need to stop punishing victims for coming forward.

The difference between life and death, between learning and depression, between functioning and suicidal ideation is not who people are, it’s how they are treated. That means that the people around them can be heroes, or they can be villains. There are no innocent bystanders.

This is true whether we are talking about trans people, LGBTQA people, disabled people, or just kids who ‘read’ to others as being different for whatever reason.Even when bullying doesn’t involve fists, it can kill. It can make people feel trapped in their situation. And the opposite of bullying is not “stricter discipline” but “more connection.”

Teach kids to be heroes.

Rule Number One

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We need to talk. I know we’ve probably not met and we’ve never said word one to each other online because I filter the hell out of my Facebook and you probably don’t go to Tumblr because it’s incomprehensible and I usually don’t get into it on those comment threads. But you need to hear this.

So, I adore your kids, okay? They’re amazing. They are bright sparks in a hard world. They’re looking around at a society that is far stranger than the one I grew up in, and let me tell you, Oregon in the 80’s and 90’s was pretty dang strange. And they’re trying to figure out who they are and where they fit.

These are kids who have loving hearts, who genuinely want to make the world a better place, and find their place in it. They want to make things better for poor people and children, and they want to help keep people safe and they genuinely want to do the right thing just as soon as they can figure out exactly what that is.

I need you to stop breaking them.

In my world, rule number one is “Mama loves you.” Not, “Mama loves you if you go to college and marry a nice person of the opposite sex and dress like people expect you to and get a job that is socially approved with sufficient status.”  Not, “Mama loves you if you go to the right church and wait until marriage to have sex.”

Just, “Mama loves you.”

Here are things that don’t matter when it comes to rule number one:

  • The clothes someone wears
  • Who they love
  • What pronouns they use
  • What sex acts they do, and with who
  • What church they go to or don’t
  • Whether or not they are gainfully employed
  • Whether or not they go to college at all or finish in four years
  • Whether they identify as the gender they were assigned at birth due to inny or outy bits
  • Tattoos
  • Piercings
  • Hair color
  • Who their friends are
  • Who they vote for
  • Mistakes they make and trouble they get into

Now, I get having hopes and dreams for your child. I’ve got three children and I’ve poured my life into them for 23 years. I get having expectations and wanting to provide them with a solid start in this difficult world. But there’s a right way to do that and a wrong way. It’s one thing to help your kids understand your values. But if the value at the top of the list isn’t “Mama loves you” (or parental/quasiparental tag of choice), I’m sorry, the moment your child realizes that they can’t meet your ideal for them, there’s an awfully good chance they’re either going to break, or you’re going to lose them, or both.

You need to understand that you cannot stop a child from being gay, or trans, or bi, or nonbinary. It’s not about “how you raised them”, it just is. And the more you make them feel “wrong”, the less they’re going to care about doing right. The less you love them, the less they will feel lovable, and the more likely they’re going to go looking for that love in harmful places. You can’t make them gay, but you can make them broken.

I am losing count of the number of teenagers I have had in my house or in my inbox or chat talking about how they can’t tell their parents who they are because they are afraid. Kids who did tell you who they are, and you kicked them out, because “not under your roof.” Kids who struggle for years to get back to a healthy place where they place enough value on their own bodies and souls that they don’t go out doing the exact risky and scary stuff you’re afraid of because it doesn’t matter, they aren’t worth it, you told them so.

I spend a lot of time telling them how worth it they are. And they are. These are beautiful souls who, given a chance, will pour their whole selves into helping someone, into making a difference. They have so much to offer, but you make it all harder by teaching them that they don’t.

I love your kids, but it hurts me when they hurt, and I need you to stop breaking them. Stop worrying so much about their immortal souls and worry a lot more about their hearts. Stop worrying about what the neighbors will think, and start worrying about whether your child will survive.

So… stop asking your kids when they’re going to give you grandchildren. Maybe they will, maybe they won’t. Stop asking them when they’re going to get married, because the last thing you want for them is for them to end up with a bad marriage for the sake of being married. Stop judging the work they’re doing, and the friends they have.

You can tell them it’s okay to stand up for themselves. And accept it if they stand up to you. Listen. Don’t get defensive.

You can tell them it’s okay for them to expect people to treat them well. And then you better treat them well.

You can tell them it’s important to try hard and do their best. But don’t tell them they have to be the best. Don’t make your love contingent on victory conditions. Some of the best people in this world never won anything.

You can say that you worry about risky behavior because you love them and you want them safe, but don’t you dare kick them out and make them even more unsafe.

Teach them that you value them, not that they are worthless.

You can even teach them about your religious beliefs, but don’t you dare put them in hell on earth just because someone told you they might go to hell someday. I’m fairly certain if Jesus exists, he judges people more harshly for cruelty to their children than he does for who they sleep with or whether they have tattoos, that was pretty clear in the bible I read. Jesus was all about embracing people society couldn’t stand. Try being more like that.

I love your kids. They’ve slept on my couch and they’ve lived in my house and they are always welcome here. But it would be a better world if they didn’t end up broken to begin with.

Rule number one. Please. I’m begging you. Make sure they know it. Tell them it doesn’t matter. Tell them you want to understand but you don’t need to understand in order to keep loving them. Tell them they deserve love, and happiness, and joy and all good things, and that you know that their path in life may not look like your path but you want to be a safe space for them to come home to. That you don’t have to agree about politics or religion or social issues or any of those things, that they’re still worthy of all that life can give them.

And if that little person you thought was a boy comes to you and says that she’s a girl, your response there is a life-and-death issue. Their future happiness and ability to survive adulthood depends on what you say to them. And if it’s anything other than, “I love you, let’s figure this out and find out what you need to make you happy,” you’re playing with fire, because the biggest difference in whether or not a trans kid survives (yes literally survives) their teen years and young adulthood is whether they get support and acceptance or not. Your attitude can literally kill them.

Rule number one.  Mama loves you.

Because while I will always keep my home open for them, I’d rather they not need me. I’d rather not have to build them back up and explain to them how you forgot the important thing.

Rule number one.

Shiny’s current meds, logic, and dosing

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Because this comes up all the time.

CoQ10:

91yOlO9D66L._SY679_   vitaline coq10 bottles and wafers

 

 

So both of these brands use Vitaline CoQ10, which works VERY well. The claim is that this form crosses the blood-brain barrier better, and I’d have to say that the results are definitely more noticeable than TruNature, which we used before (and did have good effects and raised her blood levels very high, but which did not have as profound an effect on Shiny’s language.)

Natrol was terrible, and I think their supplier was fraudulent. Be careful. Other people have used Qunol to good effect, but Shiny can’t tolerate the citric acid.  I found the best price normally at Vitacost for the SmartQ10, but Naturedoc has by FAR the best price on Vitaline 400 mg (by $57 per bottle!). The difference between Vitacost and Amazon on SmartQ10 is very small, so get that one where it is convenient.

Shiny’s CoQ10 dosing is approximately half her weight in pounds, with a zero tacked on, in milligrams. Rounded up always. She’s currently 70 pounds, give or take, and taking 400 mg because it is easier to give her 400 mg in one tablet than 3 1/2 giant chewables. We see no ill effects from a slightly higher dose, but we notice very quickly if her dose is too low.

Kids with 4q deletions are often missing one of two genes which help the body make its own CoQ10. This may or may not cause a frank deficiency in the blood, but it seems to impact muscles, nerves and brain tissue disproportionately. This directly helps correct any deficiency, and increases the amount available as an antioxidant, which can be beneficial even for kids who are not missing one of the genes.

R-lipoic Acid

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So, many people have heard of Alpha Lipoic acid, which is a racemic compound of both the S and R isomers of lipoic acid. The R one is the one the body uses. The S one is at best useless and at worse actually gets in the way of the body using R-lipoic acid. A typical dose of ALA might be 600-1200 mg.

For kids with CoQ10 issues, R-lipoic acid helps the body use CoQ10 more efficiently to make energy, which is EXACTLY what Shiny needed. It also protects cells from damage and helps the body recycle antioxidants. Win win win win.

But straight up R-lipoic acid is VERY eager to bond with other molecules. And it is a narcissist. It LOVES itself. In liquids, R-lipoic acid may readily gloop onto itself into long polymer strands, which the body can’t use very well.  So we got some results giving Shiny 300 mg ground up in milk, but they took a couple days to see.

R-lipoic acid can be stabilized with a salt that makes it more water soluble and less likely to “gloop”. K-rala  stands for potassium (K)-R-alpha lipoic acid. The first brand we bought worked pretty well at doses of 100 mg, but we started increasing those doses and the company was bought out by Vitacost, and the quality went downhill… probably due to a fraudulent supplier, but the stuff stopped doing ANYTHING. I did some reading and decided to try the Geronova brand shown above. We gave Shiny 6 drops (20 drops is 100 mg, so this was less than 40 mg, after she’d been on 300) because the company said it was often much more effective at much lower doses due to the ready bioavailability.

They were not kidding. 5 minutes later, she started chattering. It wasn’t super coherent, but she was MAKING NOISE ON PURPOSE and it had been a long, quiet summer, punctuated mostly by her tears of frustration. And she was CHATTERING. Talking constantly. For an hour. Like every word she’d tried to say burbled up at once.

She’s now taking 12 drops per day, at about 70 pounds, and we’ve gone from talking about getting her to cooperate with sitting in a chair at school to talking about them teaching her actual subjects. (She’s in a life skills classroom, but is incredibly interested in science and the natural world.) Use this brand. Don’t bother with anything else ever. Not ALA, not RLA, use the Geronova K-rala if you need anything having to do with Alpha Lipoic Acid.

Everything else she takes is at dinnertime. GIVE THIS IN THE MORNING. Trust me.

 

Melatonin

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So this we buy at Trader Joe’s because it’s $3.99 per bottle there, but even at twice the price it’s a good deal. Most people who need melatonin can get by with 1/2 tablet, which means 200 doses. That’s 6 months for $4, even at twice that it’s a bargain. 1/4 tablet is enough to make me tired. Shiny takes a full tablet.

More is not better for melatonin. This stuff works, and works well, at some of the lowest doses available on the market. It’s chewable, and citrate free. I don’t advocate melatonin for most typically developing kids, but throw in a chromosome disorder, metabolic disorder, autism, what have you, and the stuff is a godsend.

Give only at night, within half an hour of bedtime.

Fish oil
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Shiny takes one of these every night. It really seems to help with behavior and frustration levels. The dose is not high, but the price is, but this works and she tolerates it, and that’s enough for me. It tastes terrible. We bribe with chocolate.

Methyl Folate, B-12 and B6, and biotin

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Methylated B-vitamins may be absorbed more readily, and we want things to be as absorbable as possible. This is a tiny lactose tablet that dissolves fast under the tongue. She tolerates it very well. B-vitamins can help the R-lipoic acid and CoQ10 work better.  When we added this and other B-vitamins, Shiny’s energy levels picked up even more than with the other supplements. We’re currently giving Methyl B-12, Methylfolate, P-5-P (B6 in a more absorbable form) and Biotin (separate tablet). The doses are probably higher than she needs, but I don’t worry too much about it as she can pee the rest out.  We special order the combo from our local health food store, it’s hard to find online but worth it (cheaper than giving them separately, and less trouble.) The biotin can be had on amazon.

This is another B-vitamin we give. She tolerates it well. If we were more organized we’d probably give the b-vitamins in the morning.

ADDENDUM 6/22/17
We have dropped all the B-vitamins above in favor of mixing half of a B-right capsule with the other powders with a little food. This is cheaper, and gives a broader variety of B-vitamins, and they’re an ideal form.

B-right b-supplement

Vitamin D, because Oregon

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This has zero taste and she tolerates a drop on food. The drops come out slow but zero taste and tolerates well makes me not care. One bottle is a year’s supply for one kid. Everyone in Oregon gets D deficient if they don’t supplement, so this would be on the list even if she didn’t have a deletion.

 

Sunflower lecithin

So this is a good source of choline, which is helpful neurologically. I take it myself, she has a liquid form, not a capsule. It helps a LOT with her mood. Super low risk. This is better than soy lecithin which can be irritating for some.

Magnesium works with the other vitamins and supplements to help the cells work better. We avoid citric acid, so this powder format has been handy. This lasts a very long time, we use a tiny ‘stevia scoop’ for it.  Pretty much magnesium is magnesium. Find a form your kid can tolerate. It’s rarely fraudulent (because it’s cheap and what companies use to cut other meds with, lol!) Bedtime is best for magnesium. Mag can help with asthma and lung reactivity.

Vitamin C:
Pure ascorbic acid does not contain citric acid and seems to be well-tolerated. Buy the smallest jar you can, it only takes a tiny pinch added to foods to boost C-intake dramatically. Can cause diarrhea if you give too much. We bought a large jar and Miles got into it and mixed it with ketchup and most of it was lost and it still took us months to get through the rest. I’m serious that a little goes a long way. 4 ounces is probably a year or two’s worth, watch the fresh date.

Parents as researchers

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In response to this article because I get Shiny’s story out when I can in hopes that it will give other parents the oomph to look past what they’re told:  https://www.propublica.org/article/muscular-dystrophy-patient-olympic-medalist-same-genetic-mutation

I am the mother of a child with a rare chromosome deletion. Watching her as a baby, I would see her energy run out like a dying flashlight battery, watch her “turn off” and stop playing, watch her go quiet and silent as she waited for her energy to pick back up enough to play again. Then she would, like a flashlight turned off and on again, have another burst of energy, play for 20 minutes, then stop.

I said, “Something is up with this child’s mitochondria.”

She had, at that point, demonstrated a consistent reaction to too much citrate or citric acid in her diet, or when I was breastfeeding, mine. I took to googling now and then phrases connected to her condition. Citric acid. 4q21. That led me to learning about the Kreb cycle (also called the citric acid cycle), which helps the mitochondria do what they do to help the body produce energy from the raw materials it takes in.

This lead me to a seemingly random article on Coenzyme Q10 deficiency. Reading the symptoms, all more severe than those of my tiny daughter, I started to get goosebumps. At that point I think I knew two or three other families whose children were affected by the same mutation in the same area, and I knew their children’s symptoms. Every symptom showed up in some degree in our girls. Where full CoQ10 deficiency would give full on seizures, our little girls might have absence spells where they weren’t quite fully seized but weren’t fully functional either. (We now call them brown-outs.)   Language issues were rife (one of the dominant features of 4q21 deletions at that time was a near universal lack of expressive language). Kidney issues showed up in some of our girls, not as severe as the article described. The lack of energy was pronounced. When I got to the part about the genetics, I said, “I know where that gene is…” and sure enough, it was at 4q21. A recessive mutation would produce a marked deficiency of CoQ10 because a precursor would not be made. Our girls’ symptoms seemed remarkably consistent with a “half strength” issue… our kids had one working gene, which seemed like it should be enough if the disorder was truly recessive, but clearly it was not, and clearly something was missing.

It was when I got to the section marked “Treatment” (there was a section on treatment!) I started shaking and had to wake my husband to tell him to stop me from robbing a health food store. Over the counter CoQ10 resulted in a near complete reversal of symptoms, within a month. I immediately sent a message to the researchers listed in the paper, and had an answer back by morning. “Little to no risk in trying CoQ10,” they said. “Here’s the dosage we use for people with two copies of the mutation.”

“Maybe she only needs half the dose?” I wrote back, “Given that she probably has one healthy gene?”

I received the electronic equivalent of a shrug back, and put her on the full dose that day while arranging for some testing. She was almost two. I knew that kids who didn’t get solid language skills before two often never did, and I felt an urgency because of that.

Three days later, she picked up a new word, for the first time in a year, she didn’t lose an existing word at the same time. (This, a child who had said “Mama” at 5 months old, consistently, for months, one of the only sounds she made, but who had lost that word for months when another word took its place.) New words followed in a tumble. Her articulation was terrible but clearly her brain was finally managing to produce language in a way it had not been.

She’s now on several supplements, all aimed at helping her body use CoQ10 better. Each addition of the right stuff improves an area that has languished. Some things don’t help, we don’t keep those. The true test is that sometimes we discontinue something, and if skills go with it, we know we’re on to something important.

When she grows, we have to increase the dose or her symptoms start creeping back. The dose that makes her symptoms disappear is almost exactly half the dose she would require if she had two mutated genes rather than one functional gene. Our best guess is that there are other genes in the area that work in concert, and that a simple mutation of one gene does not produce the disastrous effects that missing the whole segment does.

More importantly, other children with similar deletions have tried similar treatments and seen similar improvements. We’ll never have a large enough sample size for a gold standard study, but the risks are low for the supplements we use, and the rewards, thus far, for many families, have been life changing.

We have had many doctors pooh pooh the idea, including one who said, “Mitochondrial ailments are very rare. It would be extremely unlikely for her to have two extraordinarily rare conditions. Missing one gene rarely produces effects with things like this.”

I had to laugh. When a family has already been struck by lightening, telling them they’re not likely to be struck again, despite having found a tall metal object in the middle of the living area, isn’t very useful, especially when the burn marks all look exactly the same.

Interestingly, while my husband and I do not share my daughter’s deletion, his mother was diagnosed with Lewy Body Dementia. Which may have a gene at 4q21. I have no idea what that means for my husband, if anything, or why our family would be struck by such apparently different lightening in such an identical position.

I’m 43 years old and may well be going back to school soon in order to learn molecular genetics, because there is so much I need to learn to even read the papers that might answer my questions. To gain access to testing equipment I can’t persuade a doctor to use to satisfy curiosity. To contact experts who might take a student seriously when they brush off a parent.

In the mean time my child is now almost 11, and despite the fact we were told she would likely never have more than a few words… she has more than 1000 spoken and signed words that she can use, can read (taught herself to read silently, we discovered it by accident). She sings. She makes puns. She has a robust and precocious sense of sarcasm.  She is not “healed”. She is not “cured”. She is who she is, but with every supplement that we find that works, things get a little easier for her, a little less frustrating. We were told that 70% of children died before age 2 with her condition. Then they said 20% by age 5. That there might be a high risk of death before 20. Now? No one is making predictions anymore. We’re in uncharted territory.

The single best resource we’ve had? Each other. Other parents with children with similar deletions. Even some parents who also have deletions in similar areas. We share information. We talk about what works. We talk about who to talk to. We keep each other going when doctors dismiss us or simply don’t even bother to try to understand.