Finding Strength

In a few weeks our family is set to head to the NIH for their undiagnosed diseases program. We are hoping they can shed some light on what exactly is causing Mason's syndrome biologically, why it presents so differently in the 3 of us (me, Micah, Mason), whether the deletion is actually the main problem in Mason or if he has another condition that is known but just hasn't been tested for, if there are any treatments that may benefit him, and how likely this scenario is to happen again.

What's ironic in all of this is while Mason is doing much better (seeming stronger, eating more by mouth, seizure free since June), his big brother is beginning to concern us more.

Having fun at "the big gym" (PT/OT)

Micah's PT re evaluated him and said he is actually quite a bit lower on his gross motor skills score this year than last year. He stands up with "Gower's Sign" from lying down (this is an unusual way of getting up that kids w/ muscular dystrophy and other muscle diseases use, who have "proximal weakness" of the hips, trunk, etc) He cant sit up for more than 45 seconds without leaning over to hold himself up, or lying down. His sensory issues and hyperactivity have really escalated this year. It's hard to lift his arms very high, or to climb stairs without running (the PT said she thinks his hyperactivity is actually due to him having such a hard time physically sitting or standing still, due to weakness of his trunk). He also has kind of a sway in his back now. He's on cold #4 since school started mid August (this one he kindly shared with all of us to enjoy lol).

So clearly we do have some questions about all this. Why does Micah have these muscle issues? We know he shares the deletion w/ Mason and I. But we have been told Mason's muscle problems are due to his brain malformation. Does Micah have the same problem but milder? Or does he have another cause for it? (IE, is it related to his frequent infections? Does he have an autoimmune condition?  A nerve problem (he goes numb a lot, shaking his hands when they are "tired")? Does he have a myopathy or some other explanation for his weakness and tone? Is it due to his thyroid problem? (We know that can cause muscle disease if not well controlled, but it's rare in kids, and usually affects just the limbs not the trunk so much, and Micah's thyroid levels have supposedly normalized now). Is it treatable and will it get better, stay the same or get worse? How does it relate to Mason? Does Mason have another issue with his muscles besides his brain malformation? God knows. I don't know if NIH will or not but we're thankful for the open door to find out what they are able to tell us. Pray we'll have strength do endure that week of testing (they warn us it will be exhausting and difficult) and whatever new information we obtain from the trip.

"...'my power is made perfect in weakness.' Therefore I will boast all the more gladly about my weaknesses, so that Christ's power may rest on me." 2 Cor. 12:9

"Strength for today, and bright hope for tomorrow...blessings all mine, and ten thousand beside..."

Bite by bite....!!

Last week, after getting permission from his GI dr, we decided to let Mason try eating again. We had taken a total break since about February since every time he ate by mouth he not only gagged, retched and hated every minute of it, he also got really sick (congested, wheezy, snotty) within 24 hours which lasted 2 weeks and no sleep for us during that time (not that we get any anyway lol). We had pretty much resigned ourselves to let it go, because it wasn't worth the misery he endured to try to eat by mouth.

BUT ...due to the need to try to bulk up his ... um, dirty diapers (Miralax causes some big blowouts and he needs to be on it to stay "moving,"...) and rather than put him on yet another supplement (fiber) we decided to see if he could get any fiber by mouth.. so.we tried oatmeal and pears. I use a spinning power toothbrush for kids to feed him, but cover up the end with a rubber finger baby toothbrush to make it as close as I can get it to a zvibe (a vibrating therapy spoon, which we'll get him soon)....

Well, suffice it to say, SOMEBODY showed up to EAT! ...Just look at him go! :D
 

Hmm..what is that...smells good! (WHAT?! He's always turned his head and growled when he's seen food coming!!)

Hm...let me TASTE it! (He's NEVER used his tongue to sample stuff by licking it like this!!)

Yumm, I think I'll have another lick!!

OPENS HIS MOUTH for a bite!! And swallows! Again and again!!

 

The boy ate the WHOLE tablespoon of food we offered!

Blurry because he's CLAPPING FOR MORE!?!! :D

No retching, no gagging, no crying...JUST SMILES and

 claps

 and

 happy tears from Mommy!

Now if we can just beat this UTI and URI so we can get back at it...we might just find ourselves with an eater on our hands!! :D ... That is our prayer...

"...Without him, who can eat or find enjoyment?" Ecc. 2:25

Summer Summary ;)

I've been avoiding the blog lately, can you tell? There's just so much, I'm not sure where to start. And I keep trying to block out the first two weeks of June - that was a miserable time with seizures whenever Bear closed his eyes to sleep and pitiful crying non-stop for days. We ended up in the hospital, once by ambulance to ER, the other for treatment of status epilepticus which we wondered if he'd ever be himself again after...HOWEVER God is good and by His grace Mason's as sweet and smart as ever ;D And this summer there were lots of very special occasions and happy times too and I never want to forget those!! So here goes (yep, it's a long one!)

June--
We got out of the hospital in time to have a "Secret Agent Party" at BounceU for Biscuit who turned 5 (yes, FIVE!) ...

• Biscuit got a new puppy from mom and dad for his special day (the first "real" pet in our family besides fish and hermit crabs)...She's a cockapoo, and he named her Morgan Jolly (yes, we need a little "Jolly" around here!) She is quite a smarty -- she's learned to sit, stay, lay down, roll over and is potty trained by her bell which she rings to go out. Now...if anyone has suggestions to how to teach her how to contain herself when a stranger pets her or comes in, and not piddle on the floor, that would be great! :)

• 

We also went to KC where his grandparents hosted a fun Angry Birds party. :D
  
July -

• A great visit from blog buddy Sam and fam! (Thanks again for stopping by!!) :D

 

• Downtime between therapy and other daily adventures (they both love Roku, and each other)!

•  plenty of Pump It Up, water play and Little Gym for Micah...

• Mason's ear tubes take two, and GI scope (showed bleeding and gastritis but no explanation)

 August -

• Mason was seen by a new orthopedic dr. We found out some sad news from the x-rays - that he has developmental hip dysplasia :( Pray that it doesn't get worse. The dr expects him to need major surgery within a couple years because it has gone from normal to almost critical in only a year's time. The surgery involves recovering for months in a full body (chest to toes) spica cast so please pray he can somehow avoid this. :( He was also casted for AFOs to help give him leg/ankle support, which we are still waiting to pick up. 

• Equipment demos ...(trying out some pediatric wheelchairs like the KidKart...

 and Kimba Spring with Squiggles Seat (this is our fave now) ,

 and the KidWalk (for gait training/mobility...) . He can't really "walk" in it yet..but he is tolerating it well and starting to learn how to move it backwards or forwards and claps when he is able to do it!

We also got him a Special Tomato floor sitter with a gift from our church. (Thank you!! It keeps him from sliding down - he has a problem with arching/squirming down in the sitting position and this has a pelvic abductor to help him stay up! Yay!!) And we were able to borrow a stander w/ a tray to help him bear weight while he plays...

• Biscuit's first day of Kindergarten (I'll spare you the picture of his hugely swollen arm after his shots, poor guy!). He is LOVING his school and friends and classes and doing great!!...can't believe he's so big!! :)

• Awesome visits with family and trips to fun spots like city museum and the museum of transportation...

• Mason's Second Birthday!

 We had an "Anchors Aweigh!" sailboat theme because he loves playing in the water and hearing dolphins "chatter" and boats "toot"! He has a sound activated crab he loves too. We also hoped the theme will be symbolic of all the things "holding him back" that he is able to break free of this year! :)

 He got a new hammock swing (his baby swing is way outgrown), a singing/dancing toy puppy, tooting tug boat, tummy time pillow, Little Einsteins piano and helicopter, a lightbox and water beads, wiggly giggler, ocean wave drum, and a very realistic cow noisemaker along w/ clothes and lots of other fun sensory goodies!

 On the horizon...
The National Institutes of Health trip has been set for fall...still waiting for more details but both boys have been asked to come and take part in the testing.

In the meantime, Mason has battled tummy and sinus issues all summer (and therefore sleep is not easy to come by). That is a big prayer request right now...that we will figure out how to best keep him comfortable and free of infections without having to constantly keep him on Biaxin and that we can get some much needed sleep for a good long stretch! :)

More lessons in trust

It's been a crazy few weeks around here...kinda one thing then the next but I'm gonna post a "happy pic" or two of Mason enjoying a warm day by the pool!

The short story is first Mason got pneumonia, presumably from a virus since Micah also had croup. We managed to get through that by God's grace at home and even avoided steroids (which we try hard to do now that we know how those meds affect his glaucoma--not to mention wiping out the benefit of his IgG infusions). Instead we used NAC (N acetyl cysteine) starting 2 days after the diagnosis - it's an antioxidant that's supposed to help in some cases of viral pneumonia and wheezing. It worked well and he was doing MUCH better by Sunday.

Crisis averted but then Monday he started getting fussy again and by Tuesday he was a screaming disaster :( It didn't have to do with his breathing though - now it was related to feedings, at least at first; eventually it got to the point where he was inconsolable off and on all through the day with "stress rash" as bad as after a surgery. We took him to the dr and he wanted him admitted for some tests or at least a break from feeds for IV fluids, etc. He thought since Mason was drawing up his legs and very tender in abdominal area that he needed to rule out things like stones (gallbladder/kidney), pancreatitis, etc. He already had his appendix out so that we weren't worried about. But he'd had 3 seizures that week too, and stopped an antibiotic so there was the possibility of infection as well.  The docs were able to draw some labs but couldn't get an IV going even under ultrasound guidance so they tried slow drips for feeds (just as miserable) and took an xray, ultrasound and got neuro consult in case all the GI stuff was seizure related (that can happen).

Blood work they proclaimed "normal" (but in reality it showed elevated sed rate, a marker for inflammation--we hope this was just from the previous pneumonia, and elevated AST/SGOT liver enzymes (which can be elevated from gallbladder disease, liver disease, heart damage, other muscle damage, infectious abscesses, etc.-we hope this was just due to seizures earlier in the week which can affect his muscles). No one could deny he appeared to be in awful misery and pain but everyone was at a loss as to how to help. He had another seizure Thursday morning. The imaging was so obscured by gas/stool that they could not see the other organs well enough for ruling out the issues they were concerned about. Basically all they could tell us was to give him a laxative and increase gas meds and other "comfort measures" because the amount of gas he has is "impressive" and must be excruciatingly painful (he cannot burp due to his fundo, and fights us when we try to vent his tummy. If he is producing gas that's trapped in the intestines it doesn't really do much good to open his tube. We also were told to increase his Keppra for the seizures (which we are doing veerrry slow as opposed to the all in one day increase they had us do last time which resulted in new and worse seizures). If he still doesn't get better they offered a gallbladder med to keep bile out of his GI tract in case he has bile reflux. Once he gets his seizures under control they might want to do a scope test to rule out ulcers, etc. But if gas is the main problem we are not eager to pump him full of more gas to sedate him :(

We came home Friday night and worked our way up to full feeds again which is where we are now. He is tolerating them somewhat better but now is back to where we were before the pneumonia....green slime coming out of his eyes, a cough and more junky throat - we are guessing another sinus infection which seem to hit with the Keppra increases :( The immunologist is increasing dose of IgG but is baffled (as are we) how he keeps getting all these infections despite having a much higher level of IgG in his system (before infusions, he was 150 or less - now he is over 1000 and still sick one after another). Something may be wrong not just with the number of antibodies (which tag germs for destruction) but actually mobilizing his T cells to kill the germs.

So...we are worn out but trying to lean hard on Him to carry us through and give us wisdom/direction/guidance to keep our guy feeling good and making progress.

In other news, his genetics team sent  his medical file today to the NIH's "Undiagnosed Diseases Program" in Bethesda, MD so please pray that God's will would be done in whether or not he is selected to participate, whether they can find some answers on what is going on and that can be acted on for treatment, etc.

The title of this post was regarding a great challenge Sunday by our pastor in his sermon after a hard week ... he wanted to know how many of us who say we trust God can actually be trusted with His name - in other words if I claim to be His and that I'm trusting in Him, do I also live in a way that brings Him glory or am I an embarrassment to Him when I fail to really act on the trust I say I have in Him, or when I live in a way that dishonors Him (believe me this happens a lot when I let myself get too down or frustrated/exhausted). As Pastor Steve said, the problem with the church is not it's Head...so please pray for me in particular that I would by His strength be able to live out this verse:

"...that you may live a life worthy of the Lord and may please him in every way: bearing fruit in every good work, growing in the knowledge of God..." Col. 1:10

Sedated eye exam today

Mason is a happy boy to be home, even if it's infusion night!

Today we went to Children's Hospital (first time there for a sedation) to have his EUA (exam under anesthesia). He was also getting some labs drawn while he was out.

The reason for the exam was that at his regular eye checkup a couple weeks ago, his intra-ocular pressures were very high (30+) which is very rare for him, even with his history of glaucoma (usually they're in the high teens. low 20s). He wasn't upset at all for the non sedated test so this was a very surprising finding--usually he's screaming his head off and they're still not too high so that he was calm and still high that was odd. He doesn't use drops though so we had to rule out a pressure problem by doing it again sedated.

I was praying that the reason for the elevation was not a deterioration in the glaucoma situation per se, but rather a temporary effect of his ear drops (ciprodex, an antibiotic/steroid combo) that he has been off a few weeks now. (Last year when I was on a similar steroid ear drop I had an eye exam and MY pressures were high, which they've never been before! And steroids are known to be able to increase eye pressure-but docs don't usually remember to say anything about it.)

Anyway, overall today went very smoothly.

First answer to prayer - the pressures were great in both eyes!! Although we had to sign a waver saying he could get a laser treatment to relieve pressure if needed, he doesn't even need to go on drops! Yay! :D Maybe it really was just the steroid ear drops! Here are a few other praise reports...

- No need for intubation! (they just used gas)
- They found a vein for IV backup after he was sedated (took a few tries but thankful they got one)
- They were able to draw the labs (one was drawn incorrectly but at least they got the others and saved him some awake stress).
-Some unexpected good news: his lens is no longer adhered to his cornea as it was in the past in his left eye! Now it is just a cataract, which could be fixed with a lens implant, depending on how well his optic nerve in that eye can see even with a new lens (the visual evoked potential testing, like an EEG of his eyes, will be in mid April and will guide us further on the potential for repairing his cataract).
-He did okay in recovery (not happy but not big distress either - and he was 100% himself the minute he hit the stroller and knew he was headed home!)

So thanks for your prayers, we are happy it all went so well and maybe some potential for vision improvement to pray for direction on in coming weeks!

You can continue to pray for him as he has some unresolved GI distress issues for about a month now (an upper GI xrays series yesterday didn't give any clues). We are going to be asking about something called "bile reflux" because of how we have seen neon green on his feeding tube gauze in the past couple weeks and bile shouldn't be sitting in his stomach. If that's the issue maybe they can give him something to help move out the bile. Just not sure how they can "know" without another test sedated which we are not eager to do anytime soon.