Almost Like We Flipped A Switch

It started maybe close to two weeks ago and seems to have reached a crescendo today.  I don’t know what triggered it- we had slacked off a bit on his dose of the mitochondrial cocktail while we were away, and just went back up to the recommended amount.  He has had major sleep disturbances this week after we did that.  He has also been on Aricept for exactly 3 months.  I am talking about Nate, it’s almost like someone turned on a light, all right, maybe with a bit of a dimmer switch, but a light nonetheless.  It’s his speech, and it’s freaking amazing to see.

Here are the words we have heard in the past few weeks (if I can remember them all)

Bye bye, Carla, go, up, open, bath, chicken, fry, corn, juice, chip, no (well duh), JACK, night night (for which he says da-da, but he does it consistently), he said no no Jack when Jack was shoving his lollipop in his face after OT tonight.  And he has said things, like, “go bye bye” or “Carla, bye bye”.  He waves bye bye, he claps his hands, he stomps his feet, and best of all, he gives kisses.

This has ALL developed in the last month.  After two years of basically more and cup. (and a few words gained and lost in the mix) The key in all of this is one that will have every autism mama shaking her fist with joy when she reads this.  He is REPEATING sounds and words when we ask him to.  He has figured out what that means, and figured out that he can do it.  And he is doing it; he is really really doing it.  I’m not even that afraid to say it because it’s such a dramatic improvement that even if he regresses again I truly don’t believe he can go back to where he was.  Once a fundamental concept like repetition is grasped, it’s much harder to lose than one random word here or there.  So repeating is a step in this journey- he doesn’t necessarily know the reason he is saying all of these things (although I think he knows for many of them) and he requires prompting.  As his speech pathologist Carla was telling me, we need to use these “action words” with him consistently now, so every single time we get to a door, I need to kneel down, make sure we establish eye contact, and say “open” until he says it too.  Same at the car door, and then “up” before he gets in his chair.

We have been saying the words like this, but now that we can truly get his attention, it takes some more, well worth it, work.  To make sure the joint attention is there. 

Right now, it feels like I have won the lottery each and every time he says a word.  All parents are thrilled to hear a new word from their child right?  Imagine waiting 4 years to hear bye bye? Or up?  An average person on the street would think I am nuts the way I jump up and down, hug Nate, and nearly cry each time he verbalizes something.  Not nuts, just very very grateful. 

So to every mom and dad of a “neurotypical” little one, and to my beautiful little sister who is soon going to witness these events with her own son, I say this.  Do this for me- just humor me.  When you hear a first word, or a new word, or see your child point, after you celebrate, which you should, repeat what I am saying now (to yourself, please not out loud- you might get a few looks lol).  This is a MIRACLE.  This is MAGIC.  And no matter how difficult it is sometimes, (and speaking as the mom of another child who never ever STOPS talking I know just how difficult it can be) don’t let yourself take it for granted. 

That’s one issue I don’t have with Nate.  I take none of it for granted.  I am an emotional wreck tonight after all of the things I have heard him say today.  I want to go shake him awake and make him talk.  I want to pinch him, wake him up and make sure he will still repeat “up”.  I want to line up all of his snacks and repeat over and over again what each one is, just to see if he will say it.  I want Jack to annoy the crap out of him just to hear him say no. 

Instead, I will just say this little prayer tonight:

First, thank you God.  This is amazing and I am in awe of what my little boy can do.  But, please God, please let this be it!!!  Please don’t take this away from him- again.  His mama couldn't handle it. 

See this face???  That little look?  Little stinker's been holding out on us!  The jig is up buddy!

Two Steps Forward, Twelve Steps Back

None of us ever wants to find out that something is actually working because we have to stop it.  Unfortunately, that is what has happened in our house these past few weeks.  Nathan’s mitochondrial cocktail was getting stickier and clumpier by the day.  I spoke with the pharmacist at the compounding center and he told me to take it out of the fridge.  I did so.  It got much much worse.  It was basically damp, smelled rank, and there was no way it was dissolving in any liquid because frankly it seemed saturated with liquid as it was.  I emailed my contact again, expecting to get another “tip”, but he responded, saying that he had just opened the new batch that he had made to ship to us and found the same issue.  He looked up each of the components in the cocktail and found that it was the L carnitine that was causing an issue- it tends to cling to moisture.  There were two options- take it out of the compound and give it separately (we already have it at home, as that is the one part of the cocktail he was already on) or attempt a liquid.  The liquid would need to be shipped every other week, making the copay double, and shipped on dry ice which is a $27 charge each go round.  Thus, we are trying the new powder.

The good/bad news is that we have noticed a significant difference in Nathan in the time he has been off of the compound.  His stimming is literally through the roof, and as a result we are getting fewer words as well.  He is pulling the hair off the dog, just to watch it float to the ground, and his fingers are constantly in front of his face for further stimulation.  He is ripping paper like a little fiend, and dangling the chain he creates in front of his face.  It’s hard to watch to be honest.  My other concern is that we finished the 3 courses of fluconazole to treat his yeast recently- so if the yeast is returning, that could cause the increase in these behaviors as well.  I picked him up from Cisco the other day and one of the employees commented on how “giggly” he was.  I had to rain on the person’s parade and let them know that when he is sitting by himself laughing uncontrollably, it’s usually a bad sign- could be yeast again.  So I am watching that closely as well.  Right now the priority is the cocktail, and if we don’t see improvement with that, I will call the developmental pediatrician about the fluconazole issue.

 

Another biggie- tomorrow is Nate’s D day.  He will be starting Aricept.  NIH has continued to be fabulous to work with, they overnighted the drug and we got it on Tuesday.  I am anxious to get going and nervous at the same time.  I can’t take another disappointment right now to be frank.  Watching Nate backslide these past few weeks has been hard enough.  Jack has been having a whole other set of issues, which I will address in a future post- preview- he doesn’t want to do his work, oh and he is pushing a girl.  A lot.   Should I be viewing this as social progress??? Mommy needs a sensory deprivation tank!

Nate's stimmy fingers yesterday....

Driving Without a License

OK, I can’t hold it in any longer.  Nate is doing really well the past week or two.  Not too many “new” words, but the ones he uses, he is definitely using much more consistently.  We are much more easily able to discern what he wants, although it’s still a challenge at times.

Here is the funniest and most significant thing that has changed.  Nate has been pulling us out of our chairs to get his cup or food for quite a while.  This weekend has been somewhat challenging for him on multiple fronts.  First of all, we have been on the go quite a bit, which is always unsettling to him.  But more importantly, the places we have gone and the people we have seen are familiar to him because they are the places where I take him and people he sees when I leave.  Friday night we went to Cisco Center for a little get together.  Saturday we went to my parents, where I left him for a sleep over last month, and then we headed to a birthday party which the Director (whoot) of Cisco Center was also attending.  He was not taking any chances- kid was glued to my side at each place.  It was really cute and endearing after the crying jags that occurred when we arrived at each place.  When we were at Cisco Center he was chasing me everywhere.  But yesterday he took a different, really awesome approach. 

He drove me.

Not a joke, it’s like I was his boat and my arm was his rudder.  Especially at my parent’s house.  If I wasn’t where he wanted me to be, he grabbed my hand and steered me in that direction.  He pulled me to the garage stairs and then stood behind me and pushed my legs until I walked up them.  He pulled me to the family room, in front of the couch, and then pushed my knees until I sat down.  At lunch he kept grabbing my hand and putting it on the dish that contained the food that he wanted.  He acted similarly at the party as well.  This is the first time he has done this.  He was making the effort to communicate with me, and for the most part it was not food based (which is always his greatest motivator).  He was letting me know where he wanted me to be, and more importantly he was expressing his needs.  I wasn’t wondering if he was truly content with what we were doing, he was letting me know- very decisively. 

It has even continued some at home today, although of course this is a much more comfortable setting for him.  He and I were eating lunch and John walked into the room.  All I had given Nate was a “crummy sandwich” and he was clearly not pleased about this.  But he was strapped into his booster and unable to lead anyone to what he wanted.  So instead, he started pushing John away from him and saying “go”.  Then, “I want chips, go”.  He told John to go get him chips.

We are seeing progress.  Actual, tangible progress.

Nate- New Interventions, Side Effects, and Hope

Just wanted to give you all a quick update on Nate.  He has been on his fluconazole and flagyl for approximately 10 days now, and the mitochondrial cocktail for 5 days.  He is taking all of these like a champ.  We have gotten very lucky in that regard as he has accepted them all in his juice.

Side effects, let’s see.  Sorry squeamish readers, but he is having REALLY stinky grainy loose stool.  This is a sign that the fluconazole may be working.  He also has been extremely stimmy, which is another sign of what is called “die-off”, basically a worsening of those symptoms because of the by-products of the yeast dying.  So it’s a negative thing that hopefully will lead to improvement in the long run.

As an added bonus, Nathan has not slept through the night since, umm, last Tuesday night I think?  He is my sleeper, so this really stinks.  This could be one of two things- more die-off symptoms, or something in the mitochondrial cocktail is having some effect.  Only time will tell if that is a positive or negative effect.  It could be “awakening” of some neural connections, or it could be that one of the supplements in the cocktail is very activating to him and cause some hyper stimulation.  We need to wait it out for now, as no matter what is going on, this side effect could be a transient one.  Or, if there are a lot of other more positive effects, this side effect could be helped with melatonin and may be worth dealing with.  Either way, when he is awake at night all he wants on earth is to be “squeezed”.  Arms, legs, feet, you name it, he wants deep pressure.  He has also been more fussy- possibly lack of sleep, but he also seems to be over-stimulated more easily.  He had a rough time at his grand mom’s house yesterday- lots of crying, didn’t eat a thing, grabbed my hand and led me to the front door (time to leave mom), etc. 

Have we seen anything really good?  John and I are saying this- Nathan is having a “good week”.  His speech, not necessarily increased, but definitely more consistent.  His little attitude is alive and well.  My dear John, devoted daddy that he is, continues to try for “night night” from Nate each night.  Tonight, he was leaning over Nate while he did this, giving him some deep pressure, and Nate pushed his leg onto John’s arm, smiled behind his thumb, and instead of night night, said “kick”.  Little stinkerJ.  Also, the other day, I handed him his juice and he just very casually said “thank you”.  These are definitely positive things.  And that is as far as I am willing to think right now.

I went through another phone interview with NIH today.  It made me cry, what else is new.  They were asking developmental questions for a good 30 minutes.  How often does he nod his head yes- never, how often does he wave- never, does he use at least 5 words a day- sometimes, how often does he respond to his name- sometimes, how often does he engage in imaginary play- never.  OK, so I have to admit that the interviewer made me laugh twice.  She would ask all of these serious questions to which she received pretty depressing answers, and then would wrap up the line of questioning (and in her defense she was clearly reading from a script) with something like “do you feel that Nathan uses the typical amount of language for a child his age?”  Or the kicker “have you ever had developmental concerns about Nathan?”  Seriously?  Nah- he's just introverted?!? 

So that’s where we are for now.  Mommy is finally getting a bit of relief from a migraine that was closing in on 6 days.  Which has been happening about 3 times a month the past few months.  I got a new migraine script today from my PCP and a referral to a neurologist.  In addition, after listening to all that has been going on she insisted on writing me a prescription for Xanax (HA).  She was like “and why do you not have this?  Like every day?”  That part was a bit of a joke, but she’s right, there are times when it’s just necessary and contrary to what I would like to believe, I am not wonder woman.  Just feel a bit sorry for the kids, because this mama is so drug naïve that if I take it at bedtime, it’s going to take a lot of noise to wake me up!  Anyway, hopefully this will help.

Struggling and Losing Hope

I really am struggling.  I feel kind of bad, because I have recently become aware that there are quite a few local “autism moms” who read my blog and find it inspirational.  I don’t feel like an inspiration right now, I feel useless.  I feel like I’m doing it all wrong.  I feel discouraged.  I feel exhausted. 

This is all about my fear for Nathan.  My limitations when it comes to helping him.  It’s about the fact that at age 3 and a half he is entering his third year of formal schooling.  It’s the memory of that first teacher telling me that I wouldn’t recognize Nathan in 6 months, that his progress would astound me.  Here I sit.  Still waiting.  I sat down and really read his IEP update from the extended school year last night.  He is meeting only one of 6 goals- receptive language, per the speech pathologist (who ironically is the daughter in law of Jack’s kindergarten teacher- the teacher emailed me to tell me how cute her DIL thought Natey was).  The biggest issue is consistency.  Even if he does something fabulous, getting him to repeat it is impossible. I know this.  There are days that the words just flow, and then nothing, sometimes for weeks.  I know what it is.  It’s the “noise” as I call it.  He can’t focus; the need for stimulation is so intense, especially tactile and visual.  He constantly wants us to squeeze him- his arms his legs- he will take your hand and place it there.  If you do it “wrong” he moves your hand back, as in, try again buster.  He waves things in front of his face at every opportunity.  He figured out that our mail is kept on a washstand by the front entrance of the house and has taken to shredding it so that he can dangle the paper in front of his face.  He has a “Woody” doll that has been getting a lot of attention- it’s because its arms and legs sway when he puts it in front of his face.  He goes after toilet paper, paper towels, napkins, leaves, grass, anything that he can dangle in front of his face.  If none of this is available (and God knows I try to keep it away from him) he now uses his fingers.  Several people have said “oh look he learned to wave”.  I want to smack them and say, “No moron, it’s stimming”.  Once again- grace.  I smile and nod.  If that’s what they need to believe then so be it- I don’t have that luxury.

If we could calm the stimming he could make progress I just know it.  That’s why I have tried the diets, the supplements.  Why I haven’t given up, why I keep adding them.  For the past two years.  To be honest, today I feel like giving up.  I gave him nothing this morning for the first time in years, and I know it won’t matter.  We STILL don’t have the mitochondrial cocktail, as Nate’s doctor needs to call it in to the new compounding pharmacy and hasn’t yet done so.  I spent 20 minutes on the phone with him again this morning- what was I doing?  Reading him what is in the cocktail he wants Nate to have.  Because he didn’t know/remember.  I’m ready to throw my hands up and say never mind; ready to give in. 

But something made me make the call to his doctor anyway.  In the midst of all of the frustration and hopelessness, I found the motivation to call him again, and give him the list yet again.  And I will give the supplements to Nate tonight; he missed one dose, big deal.  I will keep on going.  Even though I am ready to quit and spending more time watching Nate with sadness, feeling more grief, than ever before.  My actions are another reminder to me of the strength of a mother’s love for her child- all of this work is just an expression of that love- and confirmation that love is indeed a verb. 

Mommy and Natey Time

OK, the first part of this will be whining, but I'll get it over with as quickly as possible ok?  Earlier this summer I had scheduled myself to be off of work all week in case the funding for Cisco Center didn't come through.  Then it did, hip hip hooray!  So in a shocking and selfish move, I kept two days all for me- planned to work this mon, tues, wed, and then take off the rest of the week to get organized for the school year, buy school supplies and consign stuff that doesn't fit anyone anymore. 

Well first, I had to schedule a study appointment for Jack- there goes Friday morning, so John and I just decided to get the boys early from Cisco and take them to see Planes in the afternoon ( I am Soooooo excited).  Then last night I hear hacking from Nathan's room; then sneezing, then coughing.  He ended up sleeping with us last night and there was no way I was going to expose a room full of special needs kids to an illness- talk about a death wish, lol, so I kept him home.  There goes Thursday.  I won't deny that no matter how much I love the kids, I was really looking forward to this time.  Like REALLY.  So I was pretty bummed. 

But then Nate and I snuggled in my bed until almost 9, and had a leisurely breakfast, then we played for awhile.  He seemed ok, so we went ahead to the consignment shop and dropped off a bunch of clothing.  And he still seemed fine, so we went to Marshall's, where we spent time just looking at toys and books for him.  He was beside himself with happiness, either over our one on one time or the toys, couldn't quite tell.  When we were done, I plopped him in his seat, walked around, got into mine and turned around to this....

It appears it was the mommy time that he was happy about.  I am sure he was thrilled to be the one and only for a day- this happens so rarely.  This smile completely turned my day around (although honestly, I was already happy).  We went home and ate lunch, and then we both took a nice long nap- he's still sleeping.

 

In a stunning climax, I checked my messages and got the BEST EMAIL EVER from the compounding pharmacy.  They ran Nate's mitochondrial cocktail through our insurance (finally) and guess what???? IT'S COVERED!!!!!!  With a $35 copay.  I. am. ecstatic!!!!!!  So we should be getting a 5 day supply by Monday- the flavor will be chocolate cherry.  If he will take that, then they will send his full prescription.  If not, we'll try another flavor.  Victory is sweet!!! And apparently so are mitochondrial cocktails!

My Confounding Compounding Issues....

It’s been about 3 weeks now since our last visit to the developmental pediatrician.  I was given many “assignments” for both boys, as always.  After about 15 phone calls and just as many emails, I think that I have found someone who can compound the ridiculous number of supplements that the doctor wants Nathan to take- without sending us into bankruptcy.  To refresh your memory, or in case you missed that post- it was approximately 11 pills, 2 powders and 9 teaspoons of liquid.  Nate is 3 and doesn’t take pills.  I have continued giving him “some” of the supplements, the ones I have deemed to be the most important, by hiding them in his food and drink, just until we come up with a more permanent solution.  He has been a pretty good sport about it and by now I can gauge how many things I can add to his beloved cup before he rejects it.

It was way more complicated to solve this issue than I had originally imagined.  Our regular compounding pharmacy was pretty slow to respond and their “cocktail” was a pretty standard formulation which they did not seem very willing to alter.  I found another compounding pharmacy that was eager as could be to assist me.  This sadly should have warned me of what I was in for.  I gave them all of the supplements and doses and after several days they called me to let me know that they had come up with a liquid formulation that would be twice a day.  Awesome!  Ha, not so much.  A one month supply of the compound was….wait for it….$250!!!  And they do not take insurance.  This would be in addition to the other supplements both boys are already on.  And if it proved to be helpful for Nate we certainly would want Jack to try it too- there was just no way. 

Back to the drawing board.  I located another compounding pharmacy who wanted to speak directly with the doctor- after many, many attempts we finally made this happen.  I called to check in with them yesterday and they said they need a little more time, but it looks doable, and they estimated the cost to be about $60.  This sounds a bit more reasonable to me, and they suggested I speak with our insurance company to see if compounded vitamins are covered, as they will provide me with the appropriate paperwork for reimbursement if that's a possibility.  I am not holding out much hope, but even if they don’t cover it, we can handle this, especially if it works!  They are also able to provide a flavor that will be palatable, and keep it gluten and dairy free.  Ironically, they are 5 miles from our house- who knew?

Anyway, keep your fingers crossed that we have really finally solved this issue- oh and also that it helps!  After all of this….well I am just praying.

Uncle!!!!!

I am crying uncle.....

OK, first of all, I want to let you know that I recognize and appreciate that my child is not suffering from a life-threatening illness.  I am so grateful that the supplements we are instructed to give him are to improve his life, not save it.  However, the picture above is of all of the supplements Nate needs to be taking right now, at least orally.  The shots and creams are not included.  The omega bottle is 2 tbsp a day, the red bottle, 9 tsp a day, and then the three powders, and 10 pills.  Nate of course cannot swallow pills so all capsules have to be opened up and hidden in drink/food.  Almost all of the pills are parts of the "mitochondrial cocktail" he was prescribed by the developmental pediatrician last week. 

Here is a bit more information on this:

http://www.autismfile.com/science-research/has-your-child-with-autistic-symptoms-been-properly-screened-for-a-subset-of-mitochondrial-disease-known-as-oxphos

This is all well and good.  I am enthusiastic about trying this with Nathan, and possibly Jack in the future.  Both of them had lab values that indicated this could be helpful for them.  But I have come to the conclusion that with the current supplements we have, getting all of this into Nathan is just not possible.  I have hidden things in his drinks (which I have been doing for years), I have tried mixing them with spoonfuls of maple syrup, almond butter, jam, and chocolate syrup. I have tried tucking the powder inside a fish stick, inside a chicken nugget.  I even tried in his fish oil (it's mango flavored).  Not gonna happen.  Now- in the past, (soon after diagnosis) he didn't notice or care about the odd tastes or gritty textures of the supplements.  I would bake calcium, vitamin c, and a multivitamin into his almond bread and he would gobble it right up.  So, his increased awareness is obviously a good thing, however, in terms of giving him supplements, I am screwed. 

I started doing some research on Saturday night because I figured there are lots of people confronted with this issue. 

I found this:

http://www.mitoaction.org/blog/qa-compounding-pharmacists

A compounding pharmacy assists mitochondrial disease patients by providing vitamins and supplements in a compounded capsule or liquid form depending on the needs of the adult or child patient.  There are many benefits to working with a compounding pharmacist.  Primarily, a compounding pharmacy can combine the vitamins/supplements in order to minimize the number of vitamins and supplements required, as well as to make the medication more patient more palatable in liquid or capsule form. They work closely with the patient's physician and take into consideration the patient's diet and diet restrictions as well as the overall medication plan.  A compounded medication is then developed which is unique for each patient and his/her specific treatment plan or prescription . The formulas are based on multiple variables, including the prescription, the patient's symptoms, the patient's diagnosis, weight, allergies, physician recommendations, etc. The goal is to work with the physician, patient and pharmacy in order to develop an ideal mix  (or "compound") of these vitamins and supplements that offers the patient the most ease and the least side effects.

We have been working with a compounding pharmacy for about two years now (www.leesilsby.com), they provide the boy's methylcobalamin shots, and we order most of our supplements from their sister company (www.ourkidsasd.com).  To give you an idea of how useful compounding pharmacies can be- they ensure medications are gluten and casein free, they use very "pure" formulations, and they individualize medications as needed.  For instance, when we all had influenza A last winter, tamiflu in liquid form was out of stock everywhere.  We have a local compounding pharmacy, right below our pediatrician's office, and when I took the script there after trying all of the traditional pharmacies who couldn't help me, they said, yeah we're out of the liquid.  That's why we are opening the capsules up, re suspending them, and adding flavor.  I mean really- this is not that difficult.  How many kids could have benefited from this last winter if only they had known this was available? 

So I went to the Lee Silsby website and typed in mitochondrial.  Under the list of "medications we carry", lo and behold was-

Mitochondrial Formula Suspension

I emailed them immediately and heard back from them this morning.  They are going to consult with our pediatrician and work on a suspension that will be much easier for us to give to Nathan.  Thank goodness for this, keep your fingers crossed that it works out!