Neuro & Immunology Update

It's been since June 2012 since Mason has had any seizures (at least that we've known about). Almost 2 years seizure free is something we can only fall on our knees and thank God for. It has been so wonderful to have this reprieve!! Friday was a follow-up EEG for his neurologist. If it comes back normal we are to start weaning his seizure med, Trileptal, beginning in June (it's a very slow process).

They told us to expect results around Wednesday of this week. We ask for prayers for 1) a normal EEG and 2) guidance on whether or not to go off the Trileptal.

With his previous seizure med, it was a no-brainer to wean (he was on Keppra and had worse seizures every time they would bump it up so we couldn't wait to be done with it). But as he's been seizure free on Trileptal with no obvious side effects, we aren't sure if it's the med itself preventing the seizures or the simple lack of Keppra and other inciting factors like UTIs, etc.

We definitely would love to be done with seizure meds (it, along with his Prilosec/reflux meds) are causing osteopenia (low bone density) yet we would happily keep it up if that's what is preventing the seizures. It's very hard to know which way to go...so thank you for praying that the answer would be obvious for us and that he would have no ill effects if we end up weaning.

We also request prayer for both the boys' immune systems as their labs this time around show worse levels for IGG/IGM and strep antibody than in the past (which were already abnormally low). We had hoped nearing summertime they would be improving but that is not the case. Micah has had to increase his daily antibiotic and Mason may have to bump up to two infusion sites (he usually gets one in the leg for an hour each week but the doctor says soon he'll need to go to one in the leg and one in the stomach). We don't look forward to this either. Also pray that Micah can stay healthy enough so as not to require infusions himself.

For this God is our God for ever and ever; he will be our guide even to the end. Ps. 48:14

S Is for Spring...and SMILES :)

Google Syndrome

The day Mason was born, our first google search was “CHARGE Syndrome”. And so it began...the long pursuit of finding out more about Mason, with the goal of finding ways to help him however we could. Search query after search query, we press on. If we should ever reach the end of the internet, we’ll begin again. What are we doing, exactly? You know, the usual: * Poring over MRI images of people’s brains and comparing them to Mason’s MRIs. * Reading medical abstracts and looking up terms that we didn’t know existed. * Learning about syndrome after syndrome, trying to find ways that kids with medical conditions similar to Mason have been helped. * Looking up genes, by name, and finding out what they do, what other genes they interact with, and how they are inherited. A child without a diagnosis is enough to turn this computer guy and his writer wife into full scale medical researchers. If we were examined by doctors they would note some "dysmorphology" in us -- the droopy, bloods-shot eyes with dark circles underneath, the numb fingers from typing well into the night, the sore heads from beating them against the wall: yep, that's right; Google syndrome.

We love our undiagnosed little man. If we never have a diagnosis for Mason, nothing changes. We love our son and he is a blessing to our lives. We want to be a blessing to him too - by praying for him, caring for him, interacting with him, advocating for him, helping him progress, and doing what we can to find ideas to bring him better health and comfort. We don't feel that God determined Mason's birth to be in the information age for no reason; He knew it would be brought to bear /used for benefit in his life. If God chooses and eventually we end up with a diagnosis, our prayer is that whatever the diagnosis is, we’ll be able to find ways to help him live a healthier and happier life to bring glory to His Creator even in greater ways than he already does. And if we never know, our prayer is the same.  

--Mason's Dad

MASON HOLDS (AND PLAYS WITH) A TOY!!

Oh my word, I can hardly believe I am writing this blog!! It is a day we have waited for and wondered if it would ever even occur!! It was one of the best "happy tears" days we've ever had at our house!! As you know, Mason has never been able to hold anything purposefully - he always almost instantly drops his toys that we try to get him to hold onto. So he's never had much of a functional grasp and therefore hasn't played with toys other than switch type where he can use a closed fist or even his elbow. He also hasn't explored much of anything. Not wanting to touch or hold things makes having combined vision and hearing losses even more complicated. But, once again, God has poured out more grace and blessings in response to countless prayers, --- and

TODAY HE DID IT!! 

 

TODAY as I was playing a game with Mason where I sing a song and passively move his hands with a toy in it Mason started to PARTICIPATE in the game voluntarily!! I held both hands to get him started and then I let go of the "toy" hand and he kept actively holding on by himself -- and not just holding it, but clapping/shaking the rattle (courtesy of Aunt Christy!!) along with the game on cue!! I let him continue holding my other hand so he wasn't squeezing his own empty hand on that side  (see my last post about how we just realized that Mason has bimanual synkinesis (congenital mirror movements, which causes his hands to only act in unison (whatever he does with one hand, the other one does too).

This is such a HUGE breakthrough for Mason - he has NEVER been able to hold anything intentionally long enough to play with a toy, much less to laugh and smile the whole time too! So many of you have been praying for EXACTLY this milestone and I cannot thank you enough for those prayers! God is so good to allow us to see this happen...we are so eager to see what it leads to next! Just this week he has "discovered" his ears and hair and it's so exciting to see him "checking out" his own head with his hands!!

For I am the Lord your God who takes hold of your right hand and says to you, Do not fear; I will help you. Isa. 41:13

Congenital Mirror Movements: More Genetic Clues & Questions

For a long time, Mason has been really impressing his therapists with his hand movements. He signs "more" like a champ, claps his hands very well and often on command, and is an expert at "bringing hands to midline" (which is an important developmental step).

At the same time, we have been stumped by his inability to actually use his hands for more functional purposes like grasping and holding toys. His hands almost seem to get in the way - he always wants them near him; they are always up by his face, and his shoulders are always held close to his body (which gets in the way of eating, tummy time, games or pretty much any activity that involves using his hands). It also causes him to hunch his shoulders, which is not good for his back or lungs.

We have always just figured the constant, repetitive bringing together of his hands was his way of "babbling" (we were told babies with low vision often "babble" with their hands by using gestures that may not be understandable before they vocalize). Or that because he is so defensive of his hands, that he liked them near him--that the security of them near him is comforting. And that may be, in part, the case.

Today we realized there is a new dimension to his hand movements. He seems physically unable to move them except in unison! In other words, when one hand moves a certain way, so does the other. We've noticed he tends to always reach with both hands, and when one fist grips our finger, the other goes through the same gripping motion even though it has nothing to hold on the other side. But it is not just gripping...today we took photos of his "gestures" and every movement is symmetrical...

Anytime he makes a purposeful movement with one hand, the other hand copies it.

His feet do it too! If we touch one foot and it flexes a certain way in response, so does the other one!

In an attempt to find the medical term for this behavior, google and pubmed were helpful and so was youtube...it's called "Congenital Mirror Movements" aka bimanual synkinesis. We have found out some of the implications (writing, typing, climbing ropes, piano--um, difficult to say the least, even if he was otherwise completely healthy), and some of the underlying causes (disorders of the corpus collosum, disorders of the pituitary, disorders of the cervical spine, random syndromes - all of which could apply to Mason). He may even have a more generalized synkinesis (in his face, a smile can evoke squinting of both eyes...which is intractably adorable!)

Of course we will share this new discovery with his genetics team for what it's worth but likely is just secondary to his brain/neck malformations. What we are MORE interested in...is there a way to treat it? We haven't seen anything beyond some vague references to biofeedback and PT but if anyone has any specific protocols or ideas, we are open :)

'In him we live and move and have our being.’ Acts 17:28