News (Good or not? God knows.)

Mason had his CT scan yesterday morning to determine if he has craniosynostosis (early fusion of his sutures in his skull)...

GOOD NEWS...

The CT itself went great (Mason LOVED the laser light show during it!) and the results show that, to the neurosurgeon's surprise, he does NOT have craniosynostosis!! All of his sutures are still open :)

The "good" part of this news is that he is spared the brain surgery and does not have any evidence of elevated intracranial pressure, which we are VERY relieved to hear (he's had 8 seizures in the last 30 days or so, which is the first time in over 5 months he's gotten them so we were able to rule out high pressure being the problem - most likely it is a change in meds (going from generic Keppra to name brand and back since the end of Dec - in theory this shouldn't cause problems but in actuality and according to new studies just out last year, it does make a big difference - even generic to generic) so we are just going to stay the course and try not to change much on him in the future; it may also have a sinus infection component but we're treating that w/ Biaxin just in case); given his immune dysfunction and how easily he gets infections, the idea of cutting open his skull and putting his entire nervous system in jeopardy, not to mention subjecting him to more fentanyl/pain meds....made us wince to think about, so we are THRILLED he gets to avoid this surgery because of all the risk it carried.

NOT SO GOOD?
The other side of the coin in the situation is that, if he'd "only" had craniosynostosis, that was repairable and his head could continue to grow normally after the surgery to release the fused suture (his head circumference is so tiny as to not even be on the growth charts). Instead, he has a new diagnosis that is generally untreatable: microcephaly. We aren't sure if we'd rather have brain surgery or microcephaly based on what we have read. At Wikipedia the description says:

"Microcephaly is a neurodevelopmental disorder in which the circumference of the head is more than two standard deviations smaller than average for the person's age and sex. Microcephaly may be congenital or it may develop in the first few years of life. The disorder may stem from a wide variety of conditions that cause abnormal growth of the brain, or from syndromes associated with chromosomal abnormalities (Mason has a chromosomal deletion). Two copies of a loss-of-function mutation in one of the microcephalin genes causes primary microcephaly.


"In general, life expectancy for individuals with microcephaly is reduced and the prognosis for normal brain function is poor. The prognosis varies depending on the presence of associated abnormalities."


Mason has many "associated anomalies" but none of Mason's other "issues" appear to be life-threatening other than his low immune system which is being treated as aggressively as possible with antibody infusions weekly.  So ... we are going to hope and pray that he is one of the ones who is minimally affected ...

According to MedicineNet, "Depending on the severity of the accompanying syndrome, children with microcephaly may have:

• mental retardation,
• delayed motor functions and speech,
• facial distortions
• dwarfism or short stature,
• hyperactivity,
• seizures,
• difficulties with coordination and balance, and
• other brain or neurological abnormalities. 

BUT!!!...


Some children with microcephaly will have normal intelligence and a head that will grow bigger, but they will track below the normal growth curves for head circumference."

We'll be praying that even if he has a little head that he continues to grow and develop. No "diagnosis" can limit the power of God :D So far Mason has shown us that not only does he rarely ever conform to doctors' expectations, he is also a very happy, very smart little guy who knows how to problem solve very well and his congitive function continues to improve despite the small size of his head. We are going to see a craniofacial specialist next month to see if he may benefit still from a helmet for his positional plagiocephaly he got in the NICU from sleeping on his sides and back all the time.

"...the whole body, supported and held together by its ligaments and sinews, grows as God causes it to grow." Col. 2:19b

I stand amazed... :)

Head, shoulders, knees and toes...

Well, after a day of appointments there are some highs and lows. Mostly highs...

*orthopedic says he has no concerns about Mason's leg length discrepancy (very minor)

*ENT cleaned out his ears and says no infection (which is great because Mason has had a hard time sleeping/laying down without waking up screaming frequently so because the tube was blocked we wanted to make sure it wasn't an ear infection)

*ENT also did a scope test and learned that his nasal passages are well open (earlier there was concern that one side may be narrowed) and that his vocal cords function beautifully :) Best of all he said there was no sign of velopharyngeal insufficiency (where the flap that closes off his nose is weak, allowing food into his nose when eating) - he had some nasal reflux during his swallow study and gets congested after eating so we had taken a break from oral trials for a while.

*A urine amino acid test showed nothing that would suggest trouble breaking down protein. We were also waiting on these results before more oral trials since thickening his feeds caused him more pain/retching/feeding intolerance. The test was abnormal in that several of his amino acids were too low or absent, but no one seems to know what that might indicate :/ We will discuss this with his GI dr. and dietician. As long as he does not continue getting congested following oral trials we can probably resume them.

The tough news was in neurosurgery. And it might not turn out to be tough news...just the possibility of it. They are concerned that Mason's head is misshapen from a condition called craniosynostosis, specifically scaphocephaly, I think (and/or possibly trigoncephaly?). He will get a CT of his skull on Feb 13 to see if any of the sutures in his skull have fused/hardened too early which could prevent his brain from growing, cause increased intracranial pressure, headaches, head banging, further developmental delay. We are praying this is not the case as this is no easy treatment (brain surgery...you will have to google all that as I don't have the heart to write about it).

Makes me sick to consider, especially wondering about the pressure problem (Mason often rubs his head when upset but we always thought it meant he was sleepy. Sigh. And as we mentioned earlier, he cries worst in the middle of the night after laying down several hours (when pressure problems are the worst). We are hoping this is teething instead (the crying at night that has gone on several months now, and when we increase his feeds - when he is growing, if his head can't grow but his body is, that could be the source of his pain). Please pray that it will not hurt anything to wait several more weeks on this scan and that we would have clear direction on whether to try to make it for sooner.

Micah actually had a ridge in the middle of his forehead as a toddler which we discussed with his pediatrician but were just told it was "genetic" and he'd grow into his head (looks okay now, we think?) We knew Mason's head was flat in spots from being flat on his back or sides so much in NICU and sleeping, but that doesn't require treatment beyond frequent positioning changes (they think he's too big for a helmet for that). His plagiocephaly may also be part of his torticollis...(he has episodes of wanting to only look to the left). Until this week I did not know that could be a cause.

Here are some pics of why the dr thinks he may have this problem...

Here is a pic of craniosynostosis (sagittal synostosis--where the head becomes very narrow due to early fusion of the sagittal suture of the skull).

Here is what Mason's head looks like from the top - hard to see from all the hair, but it's pretty narrow instead of round... :(

 Here is a pic of metopic synostosis (trigoncephaly)

" Infant with metopic synostosis as seen from above. Note that the forehead has a keel shape. Courtesy S. Schneider, MD" Source: http://www.yoursurgery.com/ProcedureDetails.cfm?BR=4&Proc=79

Here are some pics of Mason's forehead...

Needless to say, please pray!! (By the way, as to the title of this post...Mason has been playing that game with us and when we ask him to show us his toes and knees, he lifts them up! When we ask for him to show us his mouth, he makes noise with it! Too cute!)

But you, LORD, are a shield around me, my glory, the One who lifts my head high.
Psalm 3:2-4

Getting his groove back :)

Whew, it's been a hard go the last few weeks with Mason going through upper respiratory and urinary infections ... 3 seizures, and some temporary setbacks especially in the "using his voice" department, but at least right now he seems to be on the other side (here's hoping!!)

The last two days he has better tolerated near-full-strength feeds (yay!!) and has wanted to sit and play longer. His nerves are still on edge from the seizure activity as he keeps going into yawning fits and getting his blotchy rash when he is stressed or exercising (trying to sit, doing therapy, etc). But, at least he is back to trying! :D

I will try anything if Snoopy will sing and flap his ears at me!

I'm mostly back to my silly self!

But all this sitting is stressing me out, Mom!

 So, overall things are looking up! His breathing is tremendously improved (we tried NAC when he had junky chest/wheezing and we haven't needed the steroids! Thank You God!) We will be getting some amino acid testing done in the near future to make sure his body is handling protein okay (in the past he has spaced out/gotten very weak when eating solids, and seems to do worse seizure wise and congestion wise on whole-protein formula and retches more when we try to concentrate it.) We are optimistic this isn't the problem for him since they checked some of it on his newborn metabolic panel, but because that missed his thyroid condition, we are not going to assume anything.

In other news, Mason got his hearing aid loaners today! It is already quite obvious the difference in his hearing - the poor guy jumps a mile just when I make a kiss sound (one of his favorite sounds in the past), or say, "yay Mason!" the way I usually do or just little odd noises he would totally disregard in the past (movement of chairs, Micah playing with toys, etc). It is so encouraging though because just in the few hours he had them on today at audiology and here at home, he has been a chatterbox, experimenting with his voice and seeing what happens when he tries different sounds! We are praying this makes a huge difference in his babbling (or lack thereof) and eventually give him what he needs to be able to talk!! :D

Do you like my new hearing aids? I got blue for my first pair!

Did that sound come outta ME? Let me try that again....

Wow! This is cool!

HOORAY for hearing! :) Thank You God for ears, and for allowing them some help to work better!

Happy ending to 2011, tough start to 2012

I know I'm way behind so I'll try to give you the reader's digest of the last several weeks. Overall it has been very exciting until this week...

Starting mid-November Mason had 6-7 weeks FREE of apparent sickness (no congestion at all!!) after starting his home infusions of antibody IgG for his immune system! This was a HUGE blessing, and he made some awesome cognitive strides during this time including...

*starting to use his hands on his own! (before this time he would not voluntarily touch anything besides his Mickey Mouse lovey). He'd started exploring and touching and hitting things just for fun, to play! It was great!! Here he is playing with his musical garden...

*Finding his voice!! Up til this point he hadn't "babbled" only grunted, cried, "roared", etc. One day we were trying to teach him to do the sign "more" during vision therapy and not only did he do his own version of the sign, he also started making a loud squeal that he used consistently to mean "more"! Here he does "Gingerbread Man" game with Grammy where he really took off doing "more" and then playing with his new sound activated "Jumpy Crab."
 
 

*We got a Kindle Fire for Christmas to help me have an electronic record of his health for the doctors, and for mason in physical therapy and vision therapy and overall speech (much cheaper than an iPad but just as effective for him!!) We show him cause/effect apps like "Peekaboo Barn," "Gravity Storm" (lots of lights for him to track/touch), and "Kid Paint" -

Here is his first piece of art from it (yes, a budding Picasso - he did all that totally by himself, no one directed his hands at all, by wiping his own fingers, hands, elbows or head across the screen! Every mark represents a unique movement across the screen.) He also learned how to get toy coins into a piggy bank with his head too, in a very controlled way :) Here he is watching his personalized youtube app on the kindle fire - a string of baby babbling videos...as you can see it's very motivating for tummy time--look at him lift that head high to see those talking babies!!

 -

*He played ball with us! If we sat him in his big bumbo chair and we said "kick kick kick" he would haul back both feet and kick it to us!! He would squeal in glee over this game ... later, as I was helping him open a new talking soccer ball he got for Christmas I told him it was a ball to kick, and he started vigorously doing the "more" sign, squealing for more and kicking his feet - before it was even out of the box! He just knew that's what was coming! He also squeals for "more" if we stop doing something he's enjoying - singing a song, playing a game with him or sharing a fun toy :) Christmas itself was a huge blessing to have my mom, dad and sister in town and to have Mason and Micah healthy for that entire visit!! :D He wasn't happy at all about his gifts either ... ;)

We had a great trip to see family in KC too and we were all spoiled all over again there!

 But as we got ready for our trip to KC, Mason started to get a bit under the weather. His wet diapers started smelling strong and he was getting congested like he was getting sick with a cold. His feedings were getting worse (not that he was tolerating them well even when he was "well"). Not to mention all the "glitches" with his food (the GI nurse called in the wrong formula without DHA) and neuro called in a refill of his seizure meds but accidentally put him back on the name brand Keppra vs generic...and yes, there are differences in preservatives, etc. The slightest change in things seem to throw him for a loop...so this was a huge change for one week - double infection (UTI/URI), new formula, new meds, etc. By New Year's Day Micah got sick with a 103 fever and virus that seemed to come and go pretty quick for him although he has lingering sinus issues. But Mason went way downhill over the next week.

Yesterday he had a seizure (the first since August) and has been diagnosed w/ e. coli UTI :( The first antibiotic (Septra) didn't help and he got worse (blood in his drool/runny nose plus very weak); after the culture came back last night they realized it was a resistant strain so now he is on nitroforantoin ....  but he had another big seizure after his 4th dose of that. So something is not agreeing...either the infection isn't getting better, he's having a problem with antibiotics, his weight has dropped so much that his body is perceiving that his Keppra has increased, or he is not dealing with the change to the name brand Keppra or non DHA formula. So many factors...or all of the above. Pray we can get into a good groove because after his first seizure it took him several hours to re-find his voice. He got it back but it took awhile. Today his seizure was worse and he actually had shaking with it (usually he just gets stiff, tonic type). And he has not been himself since 4 pm. Please pray with us that the new medicine really starts helping soon and doesn't cause further harm so we can avoid the hospital (debating whether to go tonight as he is in bad shape but fearful that it could be more harmful as he is so affected by stress which is guaranteed there) and that we can get his formula and feeds back on track so he can get back to all his exciting progress ...

"Why are you so downcast, oh my soul? Why so disturbed within me? 

Put your hope in God, for I will yet praise Him, my Savior and my God." Ps. 42:11