Shiny’s current meds, logic, and dosing

Posted on February 18, 2016June 22, 2017

Because this comes up all the time.

CoQ10:

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

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

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

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

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

Posted on January 18, 2016January 18, 2016

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.

Just one drop: Breastmilk for healing

Posted on June 4, 2015June 4, 2015

So it’s one thing to hear breastfeeding moms crow about how well breastmilk worked to clear up a baby’s red eye, but another to experience squirting oneself in the eye with fresh breastmilk.

First of all, it is painless. Soothing, even, if the eye is already irritated (and if it’s not, why bother?). Breastmilk is the exact balance an eye wants, and doesn’t create any sort of “foreign body” reaction. Mechanically, it washes the eye. But it also, fresh, contains leukocytes which directly fight infection. It contains sugars and nutrients which inflamed cells can use to help repair and function instantly. And it contains stem cells, which helps it repair damage directly. It blurs the vision for a few minutes, because it is not transparent, but it clears quickly, the inflammation settles down, and the pain goes.

But that’s just the beginning. When I burned my arm badly, I annointed the burn with breastmilk. The pain fled. Healing was rapid. Scarring minimal. I love hydrocolloids for burns but I’d rather apply breastmilk. My housemate gasped when a bad, fresh grease burn vanished in minutes with a few drops of milk on it. To the point where a year or two later, when a couple injuries happened at once, plus an old skin inflammation that had been failing to heal for months… I offered to find someone to donate a small amount of fresh milk, and the offer was accepted, strange as it sounded.

But it didn’t sound strange to my community of moms… my request was answered by five volunteers within half an hour. A few hours later we had a small jar of milk fresh in hand, and shortly after that healing had already begun, wounds that had been frustratingly difficult to heal for months had started to close. “More please?” was the request the next day. And another mom offered another half ounce. Not enough to deprive a baby, but such a tiny amount of precious liquid to heal a long hurt.

A couple years ago, I foolishly tried to clean an immersion blender and nearly chopped the tip of my finger off. It was cut to the bone, white, gaping. Direct pressure and breastmilk started helping quickly. By the time the EMTs arrived, it was holding together enough that I didn’t have to go in, by their judgement. The tip of my finger was dead white, and I annointed my finger with milk along the wound, visualized blood and lymph and nerves flowing, healing, functioning. I watched the tip of my finger pink up. They say that people with fibro have more nerve connections than they should, with more connections specifically to blood vessels and that the nerves do more than they’re supposed to. In any event, if I have poor blood flow in my skin, and someone points it out (a white splotch despite massage, for example), the moment they point it out it will pink up. It causes pain, it causes fibro, it causes reynauds… but it also might just have saved my fingertip. I kept applying milk. I kept visualizing. It kept pinking up whenever I thought about it. I thought about my finger for months (couldn’t help it, the nerves felt buzzy everywhere downstream from where they’d been cut.)

Two years later, and I’m still a little buzzy but blood flow and function are perfect. Barely a scar is visible. I wonder if it is because the wound was bathed in stem cells every time I thought to put a drop on it. There was a V-shaped flap. Even that healed. There was no infection.

On my birthday in 2014, I turned 42 and my son fell against a crate and split his lip. It was bad. And bleeding. And I nursed him immediately, and by the time he stopped, the bleeding had stopped, and the wound looked ten times better than when we’d started. He has a scar there, a small one, but milk and nursing saved him a trip to Urgent Care, and healed him fast.

My mother skeptically agreed to try it with one infection, and came asking for it the next time one struck.

The magic of breastmilk is transitory. Even refrigeration can inhibit the best parts of it.

But I think about how a drop of fresh milk could make a new burn vanish (milk was applied within minutes of the grease landing on the arm), and I think about how many gallons of fresh breastmilk a breastfed baby will consume… And yeah, I’m pretty sure formula will never do that.

People ask me why I don’t call formula a second choice, but a fourth choice. And it really comes down to the fact that fresh breast milk is a magic thing. And if it’s not possible, frozen or fridged from the baby’s mama is very good. If that can’t be had, donor milk is very beneficial and has helped many, many babies. (In my community, there are babies who have only ever had breastmilk despite their mothers having had mastectomies or severe blood loss that inhibited milk production). And if those things don’t work for a family, it’s a very good thing that formula is widely available, but it’s still the fourth choice. This is NOT a slam on formula feeding. This is not a criticism of people who can’t breastfeed or don’t feel comfortable taking donor milk. It’s a reality check. The “ideal” is not always possible in parenting, but we really ought to have a realistic knowledge of what the options are before we determine what the best fit is. It would be ideal for me to take my gregarious kid to social gatherings every day. With my chronic pain and fatigue issues, that’s not happening right now. But I’m not going to pretend that our routine is my “first choice”. My first preference would be to get up cheerfully in the morning, get Shiny off to school, go do something fun and educational with Miles with other children, come home, fix a nutritious lunch, do something productive and creative, and then make a fantastic dinner. But I haven’t gotten Shiny to the bus in four months because of an injury. Other people do it. Thank god they’re there to pick up the slack.

I don’t have milk anymore. When I had the embolism last year, I went on coumadin, and my levels jumped up and down on a daily basis because my special snowflake metabolism wouldn’t know consistent liver function from a sparkly unicorn. After shooting from 1.3 to 3.6 and ending up in the ER pissing blood for no good reason whatsoever, I asked to go on Xarelto… and put Miles on short shifts at the boob because the medicine does appear get into the milk, and being orally absorbed, may cause anticoagulation in a child. Not ideal in an active toddler. I dried up quickly. He still nurses now and then, despite saying he was done every day for six days, on the seventh, he lost his shit and begged for boob and I shrugged and let him nurse for 2 minutes and he was fine. Like magic. Even without milk.

So if I was being granular about it, I’d rank my own “preference/ideal” scale for infant feeding (<6 months) thusly:
Fresh mama’s milk at the breast
Fresh mama’s milk in a bottle or SNS (note that logistically this can be the single most draining approach to new baby parenting.)
Fridged mama’s milk
Frozen mama’s milk
Fresh donor milk (assuming a safe donor, which is an assumption that should not be made casually)
Fridged donor milk
Frozen donor milk
Pasteurized donor milk (personally, I react badly to cooked milk from cows. I can drink fresh raw milk or fridged raw milk or cooked-then-cultured milk without issues. It’s an enzyme thing. So feeding babies exclusively pasteurized milk, even human milk, isn’t high on my personal list of preferences, though it may have less risk of infection, it also does much less than fresh milk to help prevent infection and illness. But compared to formula, still gold.)
Cow-milk based formula (and here I’d rather have organic)
Cow-milk based whey hydrolysate formula (i.e. Good Start)
Cow-milk based full hydrolysate hypoallergenic formula (i.e. alimentum etc.)
Soy formula
Homemade formula
Goat milk
Cow milk

When people say, “every drop is precious”… yes. Even if a mom only produces an ounce a day for her baby to drink, and the rest comes from something else, think about the magic that even that ounce can do. One drop to heal a small burn. 1/2 ounce to heal a couple of injuries and start healing on several more.

There’s a reason why it was worth it to me, when Shiny was still new, to weigh her, nurse her, weigh her, pump until I got to our “goal” and then feed that pumped milk immediately by bottle. The more of my relative-to-her normal stem cells that colonized in her gut, the better off she would be. I wish I’d bathed her in breastmilk, head to toe, though certainly I leaked enough in the early days that essentially, I did.

Entertainingly, scientists managed to create a rat forelimb using a collagen scaffold and seeded cells recently. It is remotely possible that one day we will have disembodied mammary glands that produce a reasonable facsimile of some of the biodynamic parts of breastmilk for feeding babies who can’t nurse. Add formula to the thing, have it convert that into something more alive.
And it will probably still be a distant second, third, or fourth to a mother’s own milk, to fresh milk from a donor. Because we still don’t fully understand the complexity that is human breastmilk. It’s possible we never quite will. Sometimes it seems that the more we learn, the more we learn that there is still to learn. What we know now is just one drop in the bucket.

R-lipoic acid–FTW

Posted on March 21, 2014March 21, 2014

Oh my god. I may be saying that for a while.

So those who’ve been following our journey since Shiny was one know how significantly she has been impacted by supplements. And how badly she can be affected when a brand isn’t up to par.

Our R-lipoic acid must have changed suppliers at some point. I switched her from 300 mg of Vitacost’s brand to Geronova’s liquid K-rala… and she had about 5 drops, or 50 mg, in water, and a bit more in her milk. I was going for 100 mg because the liquid stuff tends to be super bioavailable (and expensive!)

And spent the morning…. chattering. And at dinner attempted and succeeded at a new word/phrase.

I’ve dropped EVERY vitacost “house brand” vitamin we have. Every single one, for every family member. Could be why I’ve been getting sicker? Eff you, Vitacost.

The difference was clear in hours. Hours. HOURS.

Jesus.