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.

On finding out the gender

Posted on January 22, 2015January 17, 2018

Snipped from a conversation about finding out the gender in utero.

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Today, my 3 year old son insisted on wearing a skirt all day. Amusingly, his black, heavy shoes are handmedowns from his 9 year old sister, who needed them for orthotic reasons (they were her shoes when she was 7 or 8. He’s 3.) The skirt he picked out at Costco for himself. The fish shirt is his FAVORITE. The jacket is supposedly “girls” from the tags.

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My 21 year old is now using they/them pronouns, has hair almost as short as my son’s (was shorter), and rarely wears anything remotely feminine. I’m over the whole gender binary thing. When people say boy and girl, these words, they do not mean what people think they mean.

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I guess my point is that one might find out in utero what sort of bits and bobs a kid has, but it will give absolutely not one iota of information about the person they will become. Not a thing. Our abstract gender notions are so far off from the reality of who kids are, that it’s pretty meaningless, even if they are cisgendered in the long run, what it means to be “boy” and what it means to be “girl” are so wide and overlapping that I just don’t see the point. It’s like our abstract notions of what it means to be one race or another. The variations within any one race are greater than the differences between races, in almost every marker. The only things an ultrasound can really say (and even then it’s not infallible) is whether a child has a penis or a vagina. Heck, with transgender men giving birth, and transgender women banking sperm to use later, and lots of people not actually having kids at all, it doesn’t even tell you if they’ll someday be a mother or a father.

I understand having expectations change. I had that in spades when my middle was diagnosed with a chromosome difference that completely blew out of the water all my expectations about parenting, pretty much from the moment she was born and every moment after. I’m not saying it’s wrong to be sad or glad or whatever. Feelings are feelings. They’re not wrong or right. If you’re sad, you’re sad. If you’re delighted, you’re delighted.

But realistically, even if you know, and you “get what you want”… you don’t know, and won’t know and maybe even can’t know. I have a friend who transitioned at 46 years old. And know kids who are transitioning as young as five years old. All that little hamburger or hotdog on the ultrasound will tell someone is whether their kid has an innie or an outie, for the moment. It says nothing about what they will like, what they’ll want to play with, who they will be, who they will love, or how they’ll want to dress. It doesn’t tell you whether they’ll be energetic or quiet or bookish or athletic or good at math or amazing with colors or struggle endlessly or float through effortlessly or whether they’ll look good in pink or whether they’ll be delighted at spinning in a twirly skirt until they tumble to the ground.

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I’ve been thinking a lot about gender, about neurodiversity, about social expectations of children and cultural notions of what it means to be male, to be female. I’ve never felt like there was anything inherently wrong with having female bits (although I was thrilled to no longer have a uterus once I was done using it for babies), but I’ve never in my life been much good at “being a girly girl” as our society seems to define it. And as I see a lot of young people struggling with notions of gender, my feeling that the whole binary thing is just so much horse pocky gets stronger and stronger. There’s nothing wrong with my gender. There’s nothing wrong with my skirt-loving son or my short haired daughters. Society, on the other hand, is really fucked up.

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I put Shiny in pink sometimes, and she wears dresses sometimes, because they’re colorful, she looks good in pink, and the clothes are cute. Miles gets more pants and shirts… but often throws a skirt on top if he has his druthers. Handmedowns provide him with an endless supply of pink jammies and twirly skirts and dresses. He honestly dresses almost exactly the same as K did, 18 years ago, with almost an identical frequency of skirts, or pants, or sometimes both. Which just goes to show you exactly how much influence a twirly 3 year old’s penchant for circle skirts and tulle has on their identity as an adult. We just don’t know, and it just doesn’t matter all that much. Like I’m going to love them one iota less?

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My main struggles are editorial and habitual… I was raised a fairly strict grammarian, and singular they in reference to a known person just makes me twitchy. Not morally, not intellectually… grammatically. And I spent 21 years thinking of K as “she”, and it’s a brain plasticity failure that I haven’t made the leap easily.

But that’s my problem, not my kid’s. I may stumble over pronouns, but I stumble not at all on loving them with my whole heart.

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ETA: It’s been three years since I wrote this. I now identify as nonbinary myself, and am very comfortable using they/them.

I can’t believe we’re getting on the roller coaster again

Posted on April 9, 2014April 9, 2014

So it’s been a while since we did a round of testing with Shiny. And the school is pushing for it, because they think she has vision and hearing deficits (duh) and want to qualify her for services on that basis. So I agreed to an audiology exam…. which was pretty useless, so they set us up for another one, which was marginally less useless, and now the audiologist is pushing hard to put Shiny under to do a sedated ABR to get better data.

I said no. What I really should have said is, “Over my dead body will you put this child under general just so you can get a slightly more accurate sense of how mild her hearing loss really is because you aren’t creative enough to get results with her awake. Fuck no, do not ask me again.”

And we went to the eye doctor and the sign language specialist wants Shiny seen at the Casey Eye Institute… which I agreed to right up until I learned it was part of OHSU. The staff was nice and pleasant and listened to me while I sobbed on the phone when they called (even seeing the caller ID was triggering) and talked about what they’d do in order to make it better… and then blithely mentioned the visit would last three hours. THREE HOURS. Three hours. Like they’re going to get anything at all useful after the first 20 minutes.

And it’s OHSU. They made noises about how they were separate from Doernbecher’s children’s hospital, which is where the worst stuff happened, but they are still solidly OHSU. I just don’t think I can. Like, I do not think I can physically make myself get into a car and go up there and walk in the building that I think shares a wall with the children’s hospital and not be losing my shit everywhere all the time. How can this possibly end well, no matter how good they are? And no one has told me how they could possibly improve things over what we’ve already done? Are they magically going to make her keep her glasses on? Wave a magic wand and give her better than 20/200 vision?

She is severely farsighted with astigmatism and she has had strabismus in the past but her eyes don’t seem to wander now. Honestly I think the right answer would be laser surgery but they won’t do it because of her age. And I think they’re wrong. I think if we wait until her vision is “stable” her brain will never adjust and a huge learning window will be lost.

If she’d wear glasses, it would be one thing, but the doc refuses to prescribe glasses that fully correct her vision, because of the distortion level, and I think that absent full correction she’s never going to want to bother.

Websites say, “Do whatever it takes to keep the glasses on”. We tried. It failed. Seriously we could put her in a straitjacket and she would just bang her head on the table until the glasses broke, she hates wearing them that much. I want to grab the doctors by the ear and drag them home and say, “You make it happen. I can’t.”

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.

Ridesource

Posted on January 13, 2014January 13, 2014

So we’ve been using Ridesource (special needs public transport) since December. While it does save me driving, it has been a MASSIVE hassle. Top on the list is child safety seats. Technically Shiny is allowed to ride with just a belt. In practice, the belts are too big. A low back booster makes it fit, but is not ideal because you’re not supposed to use a low-back booster with a lap belt. Her carseat weighs 20 pounds and is not a great fit on the bus because the seats are too small and it has too much movement with a lap-only belt and there’s no actual tether point for the top tether.

So today Shiny gets off the bus and the driver says, “By the way, the lap only belts don’t fit her well enough to keep her from moving around” (she’s made 3 trips this way and they’re only just now telling me this?) but I just put her in the kid seat in the back, and it fit perfectly and she stayed put.

WHAT KID SEAT IN THE BACK?

The one that one of the back seats breaks down into, that’s what. Which apparently NO ONE but THIS driver knew.

So YAY, they have a built-in kid seat on the bus that works perfectly for her!

And GOOD LORD WHY DID THEY NOT USE THIS A MONTH AGO?

And I quote, “Every one of the buses has one.”

Obligatory End of Year Post

Posted on December 31, 2013December 31, 2013

I’m finishing the year must as I started it at the moment—nursing Miles and spending time with family.

2013 was a huge, huge year. It started with surgical recovery and the addition of a family member, in the middle it was hard and everything was in transition constantly, and in the end, we had to fix our house a lot and struggled to get to a new normal which is not yet settled.

Forevermore, I will associate the new year with my son. He turns two on Thursday, which is crazytalk, but tomorrow we will fill our living room with two year olds (four of them should do the trick) and they will eat cupcakes and it will be low key and fine.

I’ve been struggling with depression. The battle to get respite and to get health care coverage has been demoralizing at best. One of my coping mechanisms, which only parents of violent children will understand, is to know that I have a choice, that if it gets too bad she can live somewhere else. I could think about that choice because foster care through DDS is a very different creature from foster care through CPS, the training is different, it is voluntary, etc. etc. But the same issue that prevents us from getting respite paid for also prevents her from entering that system, so really the ONLY option that would get her out of the house if she really injures someone is basically calling CPS, and that’s not an option for a kid like Shiny. Putting her in therapeutic foster care is one thing, but tossing a medically complex kiddo into “the system” is not happening on my watch.

Feeling trapped is one of my worst, worst triggers for depression. “Acute situational depression” is still situational and acute even when the situation is chronic. The cure is to fix the situation, I just feel like we’ve been slogging against it for so long.

My parents are paying for a couple days of respite this week, one day next week. We’ll get through it. When I can’t use my usual coping methods, we default to “things change, it will be different later.”

That and video games. I treated myself to the second chapter of Starcraft, which actually passes the bechdel test, but has kind of an annoying “heroine”. The game play is fun though, even if the story is (by necessity of the game design) aggravating. When you design a game where you have three factions and you play all three factions, kind of everyone has to suck at some level, and you have to sort of hate everyone. So I am playing the zerg mother and bash smash swarm it’s a decent outlet.

I don’t do new years resolutions. Coincidentally I will be starting my elimination process next week whereby I figure out which foods I tolerate and which I don’t. It is not a “diet” per se for weight loss, but an attempt to figure out if I can feel better by changing my diet. We shall see.

Objectively hard

Posted on September 7, 2013September 7, 2013

My sister used those words to describe Shiny the other day. “She is objectively, genuinely hard, for anyone.”

Today the kids had respite together at The Arc. I was told years ago that “ARC” stands for Association of Retarded Citizens. Now they’re just The Arc. First Saturday of the month, they offer respite. 6 hours for $10 for the first child, $5 for siblings. We just learned about this a few weeks ago.

We showed up, spent half an hour filling out forms (which the caregivers did not read) and the kids ran gleefully into the play room. Well, first Shiny disappeared completely off both our radars (I thought he had her, he assumed that since I had my head down filling out forms and sent Miles his way that I had her.) So there was that panic, she turned out to be in a side room, and all was well. The kids were delighted to be there and to have the run of a huge space.

We left them there and came home and I did some dishes without anyone shitting on the floor and ate some food without sharing it with anyone and I took a nap.

Went school shopping (which makes me furious… free and appropriate public education means a list of $40-50 worth of stuff PLUS a request for $25 cash for supplies. I’m going to gently suggest to her teacher that next summer she should give me a list for the whole classroom, I will find the best possible price on the stuff and we’ll get it wholesale and divide the cost among parents. Because buying two reams of copy paper is just stupid.

Got back to pick up the kids… Miles came wandering up, checked me out and then wandered right back off again. The first words out of the caregiver’s mouth were “Does she have Pica? She ate crayons.”

“I put it on the paperwork,” I said.

“I didn’t look at that,” she admitted.

Sigh.

I find Shiny. She has a scrape on her face. “She threw herself on the ground,” the person watching her said. “Does she have pica? She ate crayons. We’re going to need to have 1:1 staffing with her next time.”

I have no doubt Shiny threw herself on the ground. And at this point, I don’t let her have more than one crayon at a time and we stop if she starts to break or eat them. As far as paper goes, I don’t really care if she eats it–as long as she’s not eating lightbulbs and pottery fragments we’re okay. (She’s done both.)

She is genuinely hard. I just hope this doesn’t mean they have to bill us at the higher rate for after school care, because while we can do the whole month at $9 per hour every day after school… not so much at $18 per hour.

But I don’t feel like quite such a jerk for having such a hard time this summer.

One. More. Day. Monday is no school, Tuesday they start.

Trudge trudge trudge

Posted on September 5, 2013September 5, 2013

In the morning I go to drop both kids off with a woman far more competent than I at this whole parenting nonsense–she handles Miles and Shiny and her four and five year old and sometimes a couple neighbor kids and she’s SIX MONTHS PREGNANT. At six months pregnant I was lucky if I could get up and down the stairs.

Then physical therapy. Then back to get the kids and back home to talk to the DDS worker. I vacillate between wanting the house to be cleaner and wondering if I shouldn’t have had the person who cleans for me in on Monday, so he could see the full force of what it gets like.

I inhaled a tiny bit of sausage tonight. It is irritating and annoying but not blocking my oxygen, so hopefully it will not kill me before tomorrow afternoon. I have too much shit to do.

The two most likely suspects for taking Shiny after school are full… and her school program goes from 7:30 am to 2:20 in the afternoon. That’s door to door. It is the shortest school day she has had during the regular year since kindergarten, and I’m going to have to fight them to get her a little earlier so she can have breakfast at school. So after school care is important. The city is the cheap option. Then there’s the daycare down the street, run by one of our co-op members, not terribly more expensive per month, but the co-op mama is gluten free and aware and holds babies and doesn’t hold slavishly to schedules for their own sake and would probably be a better fit, not that it matters, she’s full. Shiny is first on her wait list and 7th on the wait list for the city.

If respite comes through, there’s other options, but I am not holding my breath. I feel like a schmuck for wanting her out of the house from 7:30 am to 5:30 pm, but that extra 3 hours in the afternoon (4 on Wednesdays) feels like the difference between surviving and maybe, possibly starting to get my health back. When it’s just me and Miles, we range through the house, go places in the car, do things, take naps, get shit done. When it’s me and Shiny and Miles it is hard to get out of my chair, I can’t leave them alone together for long and I *certainly* can’t take them with me. I can’ t just be upstairs napping with Miles while Shiny is downstairs, she’ll push a table over to the entertainment center, climb up and dismantle my network (which is currently located about 7 feet off the ground). I can’t tell you how many routers I’ve already gone through. It is crazy. If she were a typical 8 year old, she would actually be a force for order rather than chaos, she’d be able to make her own lunch, she wouldn’t be smearing shit on the walls, she’d be helping with her baby brother rather than clobbering him. I don’t often think about that, but today I must because today I need to make the case for services based on her disability, and that means pointing out EVERYTHING that is different because of her disability.

Horrible head space, but it’s for a good cause.

This sausage is annoying the crap out of me–I’m not thrilled that my next step is to go upstairs and lie down and put a c-pap on, I think it will just drive it farther down.

In the desert

Posted on August 31, 2013August 31, 2013

So when Shiny was born, we did not go to Holland, but instead were dropped in the desert. We eventually found a well, and managed to put together a dusty little life with just enough water to get by most of the time. There were drier times, and the occasional deluge, and for a little while, we had steady, frequent rain and things started to bloom.

Then, abruptly, there was a sandstorm. I woke up one morning to find that my well was gone, the garden covered with sand, my shelter blown away and the sun beating down. There were some jars of stored water, but not enough. And some of the jars I thought I’d set aside had cracks in the bottom, when I moved a jar i found the one behind it dry as a bone. I’d known there would be dry times, but I wasn’t prepared for how thoroughly the water had disappeared, how quickly.

I knew there was water across the valley, if I could just get there I’d be allowed to stay for a while, and we would be okay. But I had to get there. Across parched earth, with a few jars to sustain me. And so I set out. “One foot in front of the other,” I thought. “I just have to keep moving, eventually I’ll get to the other side. Then I looked at a map, and realized it was farther than I thought to the other side of the valley. There was supposed to be an oasis on the way, but when I got there, most of the water was gone, I ended up thirstier digging for the water than I’d been just walking across the desert.

Weeks passed. Occasionally I came across a water seller, and paid for a cup here, a sip there. Just enough to not die. I asked someone for help, and she said, “Oh, hey, just over that little dune there, there’s this oasis! You can stay there for a couple of weeks, it’s wonderful, they have a pond and a cabana boy. You’ll have to go a little bit out of your way, but it will be fine. I took the map she offered me and was about to step that way when someone else said, “No, there’s another oasis even closer, and you won’t have to go so far out of your way!”

Grateful, delighted, and looking forward to a good long drink and a nap in the shade of a palm tree, I stepped over the hill, and saw a palm tree and what looked like a deep well…. I pulled up a bucket and began to drink. At first the water was clear and cold and refreshing. Then without warning my mouth was full of sand, and I looked up and saw the palm tree was made of plastic and the green oasis I was promised was just more sand. Someone leaning against the palm tree said, “Oh, just scoop some of the sand out, there will be more water… I did, there was enough for a few more swallows, even enough to put a little bit of water in a jar, but those swallows were bitter and sandy and I cried… no two week oasis, just another water stop, and the edge of the valley looked farther than ever.

I called out for help, and a woman came rushing forward, put her arm around me and said, “Over that hill, we have more water. And you can stay, and we will make sure you have water for as long as you need it.”

“I can’t walk much father,” I said. “I need water now if I’m going to stay in this desert. I’ve been thinking about leaving. I don’t want to, but I might have to.”

“Just over the hill,” she said. “Right there.” She pointed, and I could see the shimmer of water and tall trees.

“Okay,” I said, and kept walking. I could still see the water, the trees, but they didn’t seem to get closer. My arms felt like lead, my throat parched. I called out to find out if the water was there, and a man answered, “Oh, it’s two hills over, but they may not have enough for you. We might have to send you to another hill, and then it’s only if the people there say you can go.”

At this point I was almost to the edge of the valley… but the community which had been if not green, at least capable of sustaining us through the winter, had a sign up, saying, “Water shortage.” I asked the man, “But isn’t there something you can do?”

“There’s a guy over the next hill,” he said. “He might be able to help you.”

I trudge onward. Friends stop by and offer me a drink, just enough to keep me alive. The guy over the next hill is almost to the hill after that. There was a sign stuck to a cactus about how over the mountains there is a rainforest, how if you say the right words and talk to the right people and then wait for a while, they might build a pipeline and irrigate my home for good.

And if I’d known about those things before the drought, I’d never have had to march across the desert.

I will believe in the water when I see it, not before.

If one more person offers me a “water” bucket full of sand, I’m moving to a rainforest. Someone else can tend my cactus.

Posted on August 31, 2013August 31, 2013

This was sent to me by the people who sent Shiny home from camp last week.

This is the inside.

Remember these are the people not trained to wipe butts. Nor, apparently, to have any tact whatsoever.

I’m feeling very worn right now. This is not the kindly note they think they intended. It is salt in the wound.

DDS approved us this week…but can’t get a worker out here until 4 days before school starts, and he thinks I won’t get assistance very promptly. “We may not have any unallocated funds,” he said. “It has to go to the committee. You need a service plan. We might have to take from short term funding, we only got half the money we normally get. You might go on a waiting list.”

I feel like I’m watching Lucy hold a football. That help would be about 50-70 hours of respite per month (not $1000 worth that they told me earlier.)

My advocacy worker says there’s another program. It has a waiting list of up to two years to even get an interview. Only 3% of disabled kids get on it. That one can provide up to $34,000 per year of respite and home adaptive improvements.

A parent who has been through the process asks who my worker is. I tell her the two names I’ve been given. “They both suck,” she says. I tell her the one I’m most likely to see first. “He’ll try to make it sound like you’re doing okay,” she said. “Just watch.”

I told her what was happening with us right now. She said, “Tell him. Most people try to make it out that it is not so bad.”

I tell her about the way I keep Shiny in her room. “DDS will tell you it’s illegal,” she said.

Honestly, if it’s illegal, fine. If I don’t lock her in her bedroom at night, she will create a danger to herself and others, and I will wreck my car with exhaustion. Parenting a child like Shiny you don’t get to take the high road, you just get to try to find the repellent parenting methods that cause the least harm for the most people in the long run. Someone else thinks it’s not good enough for Shiny, they can take her and try to do better. Because this is what I have and this is what I can do and that means she spends 90% of each day locked in one room or another. One of the rooms is her bedroom, which she loves. The other is my living room, which is huge and open and gorgeous and this is what I can give her, these two rooms. If I give her the run of the house, she climbs on me and then throws her head back into my face. Or slaps me. Or throws everything from the counter onto the floor into her brother’s reach.

I ask her if I should try to make Shiny wear clothes when he comes. “Let her do her thing,” she advises. “Don’t try to clean your house up too much either.”

As if.

So, maybe someday we will get resources, if state funding doesn’t dry up. If someone believes we’re that bad off. In the meantime I cobble together breaks here and there, sneaking them in, rationing them.

If we’d been told about these resources much earlier, we’d already have them.

But now I wait, like Charlie Brown, not really believing Lucy will keep the ball in place, but not being able to give up hope completely that this time things might get a little better.

Shiny’s main teacher may not be allowed to teach at the beginning of the school year because of a snafu with her license renewal. Which means she will start a new school with a sub. This fills me with no confidence whatsoever. God help me if I have to pull her out.

Until DDS approves, the most likely resource for Shiny to have after school care…. is from the same people who sent that note. Color me not impressed.

Riding the respite roller coaster

Posted on August 23, 2013August 23, 2013

So I’ve been drowning a lot. And a local disability advocacy worker threw me a lifeline by suggesting Shiny be enrolled in a camp that does inclusion for special needs kids. I looked into it, they offered to do a scholarship for the first week, it looked like such a good idea that I paid out of pocket for a second week.

Shiny was excited. Great. It involved swimming and dancing and a lot of free play.

First day was fine, exhausting for me because I ended up doing a meat sort, but that was okay, I had 10 days of respite lined up, 9 hours a day.

The second day was wonderful up to a point… I ended up taking a long nap with Miles, getting things done. Hubby came home to a happy wife and a cooked meal and Shiny was tired but that’s okay. The point at which it wasn’t wonderful was when her second week of camp (different camp) called and said Shiny would not be able to go because the camp was wide open and outdoors and there would be no way of keeping her safe in that environment. I was sad but wanted to enjoy the rest of the week.

Third day, I had an appointment in the morning that fractured our nap, the appointment was a dud anyway as we were going to have a plug installed near our fireplace and they couldn’t do it for under $800… But I was going to have a nap in the afternoon with Miles anyway and make a nice dinner… and then Camp called.

Shiny was refusing to wipe her own butt, and “their staff isn’t trained for that”. She was acting tired and didn’t want to participate, so I needed to come get her, she wouldn’t be allowed back.

That 10 days of respite.. had turned into 2 1/2. And was done. Over.

I flipped my shit when I got off the phone. My mother went and got Shiny, and advocated for Shiny to return the next day for a shorter period of time. I called crisis services for the local county office of developmental disability services (DDS). There were a lot of phone calls and a lot of messages and I cried a lot.

Then I got a magical call back from the regional crisis intervention coordinator.

Shiny will qualify, possibly as soon as next week, for $1000 per month in respite funds.

In 3-6 months, because Shiny is currently “at risk” for losing her placement (i.e. if we can’t figure out lasting solutions that make it possible for us to care for her in the home without her damaging us, we will have to look at therapeutic foster care, I am THAT done), a new state program called the “K-plan” will kick in, and Shiny can be considered a family of one for purposes of applying for aid, such as SSI and Medicaid. Remember, we currently pay 1500 per month for insurance, which will drop almost by half January 1, but we have NEVER been able to have dental and vision coverage for Shiny, which has meant many thousands out of pocket. We may also be able to get housekeeping help for the “extra” burdens that Shiny’s conditions create on the level of mess here. (Me taking time when I’m not keeping an eye on the living room often results in Shiny creating a poop disaster. Then I spend an hour or two cleaning up a poop disaster. So her effect on the house is twofold–without a break from her, nothing gets clean, ever, unless I do it after bed, and I don’t often have the energy to do it then because I’ve been dealing with her all day).

I got plenty of sleep and a break from Shiny over the weekend, two days in a row. By the end of the weekend, my co-host for the co-op saw me and was blown away by how much better I looked than the last 20 times she’d seen me. By Tuesday I looked in the mirror and said, “Oh, there you are!” to a person I hadn’t seen in years. I was starting to feel human. The level of devastation at having my two weeks turned into two days? I don’t have enough words to describe it.

But… with $1000 per month, Shiny can go to after-school care every day… at the special needs center where they presumably know how to wipe butts. No-school days will be covered. And there will be enough left over to allow some respite time on weekends as well, so hubby and I can actually spend some time together.

I am enraged at the shitty implementation of “inclusion” at the city program. But it got things going and helped grease the gears at DDS… normally there is a 3 month wait list, but they are expediting us. I could just about hear steam come out of the coordinator’s ears when I said that no one had referred us there, and I had learned of them by chance just this spring.

How very different her toddler years might have been.

Having just Miles around is a dream. He is so *easy*, and we get into a rhythm so nicely with each other. I was so looking forward to having that… And we will, it will just be a few weeks.

It’s like there’s still a rhinoceros sitting on my chest, but at least I know it will be leaving soon. And without us having to put Shiny into foster care.

It was something I hated contemplating, but I just didn’t know what else to do. She is abusive and violent and she will likely always be abusive and violent and my responsibility, and I don’t want my son to grow up bullied, and the fact that when she comes near I cringe and say “don’t hit me” is just sad. If she’s out of the house from the time she wakes up until dinnertime, we only have to deal with 2-3 hours per day and that I can do. I can be the parent I want to be for her, if I”m not having to defend myself from her all the time. If I’m not pouring everything into just trying to minimize the amount of destruction she wreaks.

The morning of the day they sent her home, as I was getting her ready to go, she said, “Camping time. Oh boy. Can’t wait.”

I am still so angry with them.

Shiny Vs. The iPad Cases

Posted on November 9, 2012November 9, 2012

When we got Shiny the iPad2, we knew she needed a drop-proof case. The apple store had GumDrop cases, we got one, it was fine at first, but we quickly ran into problems because while it was very good at protecting vs. drops, it was utter crap vs. Shiny drool and messy fingers.

I got fed up and ordered a Griffin Survivor. Not an improvement, she ripped a flap off within 24 hours.

Sent that back and got an Otterbox. The silicone had tears within a day and a half.

Back to the GumDrop. I finally stripped off all the half-peeling doublestick tape holding the protector to the frame, applied Sugru in a fine bead to the edge of the protector frame, stuck it to the case frame, let it cure a bit, then used more sugru to stick the screen protector back on. Then I let that cure for a few hours, then put it on the iPad and basically sealed the screen protector with a fine line of sugru, sealed everything I could.

So far so good.

We’re not in Holland, Toto.

Posted on September 29, 2012September 29, 2012

Someone shared “That Holland piece” with my husband. http://www.our-kids.org/Archives/Holland.html on the extremely slim chance you haven’t seen it already.

It’s a button for me. Almost every parent I know who has a special needs child has had the piece shared with them at one point or another by some well-meaning person hoping to make them feel better and have a better attitude about some devastating diagnosis.

That piece drives me up a fucking wall. Shiny isn’t Holland. Shiny is more like Australia, where they have amazing vistas and tons of poisonous things that will try to kill you if they can. That piece was written about a child with Down Syndrome. If Shiny had Down Syndrome, life would have been a hell of a lot simpler these past few years.

I love her dearly, I do. I fight for her all the time. I find amazing joy in the simplest things with her. But she’s not Holland. And it’s not that simple.

That piece really minimizes what it is really like raising a child with a disability. It’s not just a slower pace with different scenery. It’s not just a changed expectation, and slowing down to smell the flowers won’t heal the soul-deep scars that her first years have left.

Every time I start to relax with Shiny in the moment, I end up getting hurt. Every time I start to relax in general, another child with her deletion dies or has a serious illness. It’s more like trying to avoid getting mugged in Tijuana than it is wandering the tulip fields in Holland.

With Down Syndrome, there are guidebooks. Maps. Support groups. Research. It’s a known quantity. With Shiny, we thought we were flying to Europe and were thrown out of the plane without a parachute to land on an unknown continent in a place where we didn’t speak the language, and we’ve been rubbing two sticks together to make fire ever since. We’re resourceful people, which means I’ve been working on writing the travel guide for the past 7 years, we’ve made friends with the locals, as it were, and through sheer stubbornness have managed to go from stone age to bronze age, as it were, in spite of, not because of the people who were supposed to guide us through, her doctors. But we didn’t get here by relaxing and enjoying it… if I’d just gone with the flow and “accepted” our lot, she’d still be crawling, if that, and she’d not be reading, certainly, and she might well have been a whole lot more medically complicated.

Maybe, now, we’ve gone native enough that we can take more joy in the day-to-day. I never needed Italy… but it would have been nice to have some decent hotels and a good restaurant or two and a whole lot less physical pain. And I’m not going to apologize for the very real grief that comes when you spend your child’s first two years not knowing if they’ll survive, and their first five years wondering if they’ll ever learn to walk.

Now that she’s walking and communicating, it’s a whole different country again… and if it had been Down Syndrome, we would have been here years ago.

Some parents take comfort from the piece. And that’s fine. If any special needs parent finds ANYTHING that helps them deal, I’m all for it. But it is one thing for it to be shown as a description of how it is for one parent dealing with their child’s Down Syndrome, and another thing when it is given as advice. As advice, it is more “assvice” than anything. “Buck up! It’s not so bad! What, do you hate tulips or something?”

During the hard times, getting something like that for the first time I’m more likely to growl, “Don’t fucking talk to me about Holland.” And during the easy times, I just don’t need it.

Pregnancy certainly is like a journey. And I’ll talk about that in another post. But this? This ain’t Holland.

Babbling in babies (or not)

Posted on September 27, 2012September 27, 2012

A member of my due date club has a little girl who is 9 months old and not babbling. Knowing a bit of my history with Shiny and Shiny’s language issues, she asked what I would do about it.

What I did and what I recommend doing are two different things. I was so overwhelmed with Shiny that a lot of things slipped by the wayside and were done later than I would consider ideal. What I recommend doing is getting her in for a hearing screen, insisting that they screen in whatever way they need to (they CAN screen with clogged ears, a bone conduction test will tell if the brain is hearing, and you can get an idea of how much hearing loss she has, if any, with the glue ear) and asking for intervention to be done sooner than later if she has demonstrable hearing loss.

Intervention #1 is to attempt to clear the ears. I would give this up to six weeks max, using antibiotics or whatever you need to do before shifting to something more invasive, like tubes. That may be all the intervention necessary if the only problem is glue ear.

Intervention #2 is to start using sign language with her RIGHT NOW. Get the Signing Time DVDs, your library may have them, or you can download them I think, also. Don’t worry if she doesn’t pay attention to them, YOU use them to learn sign vocabulary. Reinforce the major words you say to her with signs. Mama, Daddy, Eat, Milk, Sleep… etc. That gives her language reinforcement NOW, and makes sure that her language is developing by any means. Signing time makes sign language very sticky in your head.

Intervention #3, which I would consider if she gets to about 11-12 months without babbling, is to visit a speech/language pathologist. If they don’t have them for kids under a certain age, occupational therapy should be considered if it looks like she has motor planning issues for language.

We got Shiny talking with bananas, in part. We’d say, “Banana! MMMMM!” and she started going “MMM!” to get a bite.

You want to make her world rich with language. Talk to her a lot. Say things normally, repeat yourself simplifying, emphasize with sign…. Use songs, finger plays, food, whatever, to reinforce everything.

And don’t panic. There are kids who don’t say a word until age 2 or 3 and then don’t shut up, but it is very worthwhile to make sure that all systems are go before you decide she’s just not ready to bother yet.

What would YOU do or advise? Answer at the blog (jenrose.com) please!

Mitochondrial disease made the news…

Posted on September 21, 2012September 21, 2012

One of the things about Shiny’s deletion is that it acts like a mitochondrial problem. The problem is not in the DNA of her mitochondria, but in the “supply chains” that feed the mitochondrial processes. Here’s her story in a nutshell, in response to this article:

http://www.cnn.com/2012/09/21/health/mitochondrial-disease-martin-family/index.html?hpt=hp_c1

My daughter has a rare chromosome deletion (4q21.1-21.3). Early in her life she seemed a baby in slow motion, every stage lasted longer, everything was quieter, all her systems were affected. I would watch her play, and it looked like her batteries were running down, she’d just STOP every so often, stare off into space, and pat the floor. A minute would pass, and then she’d rouse and go on playing as if nothing had happened. Her muscle tone was low, she had trouble learning new words, and if she learned a new word, she’d forget an old one. She lost “mom” for 5 months. I kept saying, “Mitochondria”…

Other symptoms included: lack of hunger, lack of satiation (she’d never ask to eat, but would eat until she couldn’t physically cram more in once food was in front of her), lack of a ‘wake up’ cue and the ability to stay awake for unnerving lengths of time. She grew slowly and inconsistently, had swallowing and coordination issues, and at 23 months was still mostly scooting on her belly, not crawling up on hands and needs for more than a step.

One night, researching, I found information on a mutation in one of the genes in the area she was missing, which suggested that part of what she was missing was responsible for encoding some of the precursors for CoQ10. Her symptoms were a less dramatic version of the symptoms listed. When I got to the section on treatment, I started shaking. I woke my husband up. The treatment? CoQ10.

I sent emails off to the researchers who said essentially that there was no harm in trying CoQ10. So the next day I went to the store and picked up a bottle. I chewed a capsule myself to see if it was tolerable–it was, so I let my 23 month old chew a capsule at the dosage the doctors suggested. She did. I didn’t expect immediate results, I thought it might be a month or so.

3 days later she started picking up new words… without losing the old ones. She started crawling everywhere on hands and knees. She started asking to eat, and stopping when she was full. She had more energy during the day. The transformation was amazing.

We changed brands at one point, and she started losing ground again. Some brands of CoQ10 do not have good quality control. We switched back, and she started making progress again. That confirmed it for us. We added R-lipoic acid, to help her body use the CoQ10 better. Three days later she started stringing words together, and getting our attention before signing at us. We added a multivitamin, and DHA. We changed versions again of the major supplements to even better absorbed versions… and one day I realized that she was singing a Beatles song.

Today, my little girl who was not supposed to develop language… is reading. And learning to write. She counts, and is learning to subtract. We have confirmation now that other children with her syndrome do in fact have mitochondrial dysfunction, as I believed. She gets sick, her immune system isn’t perfect, but she gets better. And I have no idea how long she’ll live, or how far she’ll go. I have less of an idea now than I did when she was tiny (and then, I was wrong). But you know what? None of us know how long any of our children will live. None. We don’t know how much progress they will make, and I have had friends who were told as children they would not live long who are now in the their thirties or forties.

Mito cocktails are not “cures”… but as treatments go, they’re pretty dang miraculous in my book. My little girl can read. And she can laugh, and she can play, and she loves us, and we love her, and really, everything we get past that point is just gravy.

There is so much progress being made, so quickly… don’t count that baby boy out. Don’t take “no” for an answer, and don’t believe the doctors know as much as they imply. With rare syndromes, it’s all guesswork, because the sample sizes are and always will be too small for the controlled studies.

Since I put Shiny on CoQ10, many other kids have gone on similar supplements. It doesn’t work for all of the kids with her syndrome, but where it does work, the results are amazing. We have little kids who were not expected to live past age 2 or to develop language who are walking, talking, running, reading, writing, and new to us this month… dancing.