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

NIH update: Whole Exome Sequencing

We found out that all the preliminary testing planned by the NIH for Mason's part in the Undiagnosed Diseases Program has been completed and nothing was found in either the CHARGE or Rubenstein-Taybi syndrome genes. That means they found no mutations, duplications or copy number variants so those conditions are ruled out (unless he has a  mutation on another gene found to cause cause variations of one of these syndromes).

They have now started the process of whole exome sequencing. This test could take months and only 25% of tests in those with suspected genetic conditions lead to a definitive diagnosis...but, it is the next step. This test is not as thorough as whole genome sequencing (which sequences every gene in the body) but it is the next best thing--it looks at all the "protein-coding" genes which are suspected to be the major ones involved in human disease processes. Yet the exome represents only 1% of the genome! So you can see there are limitations. It was explained to me as kind of "skimming" or "scanning" the genome for typos as opposed to reading the entire book in depth.

So, we will wait and see what happens. We are hoping for one of two outcomes - that they find a mutation in a "known" disease-causing gene so that we have more info about what to expect and perhaps how to treat it, or if they find a mutation that's never been associated with a disease but discover now that it is, that it also helps others with the same condition and either way that it is an "actionable" gene - that it is something we can try to address by treating him on the molecular level. But, if they find nothing, we will trust that God still knows every detail of Mason and we'll continue to rely on Him as the ultimate source of direction!

Baby Steps in the Kidwalk

I don't know about you, but I love SO many things about this video. The top 3 are:

1.  Mason is TOLERATING his Kidwalk! This week he has shown extreme interest in being upright and has tolerated it far longer than he ever has (normally his max is 5-10 minutes). This week he is pushing an hour! He wasn't even complaining when it was time to get out - I only had to remove him because it was time for a feed. This is definitely a first for him :) Up to this point his main activity in the Kidwalk has been hanging droopily in it and crying. And in the past, if he has ever moved it, it's because he was screaming and kicking so hard it accidentally moves back. So, that he is happy in it is HUGE!! :D

2. Mason is taking INTENTIONAL steps in his Kidwalk! Yes it's backwards but you have to start somewhere. I think he does actually want to go forward because he wants to see his favorite videos on TV. But at least he understands that his legs are what he has to use to make it go. He has never made that connection and acted on it before!!

3. Mason is moving IN RESPONSE to me saying, "GO!" This means, he understands what "go" means, and even though he's had a nasty draining ear/sinus infection, he can hear me saying it without his hearing aids in! :D

We are so happy that he is making progress in this area, even when he doesn't feel well. We are even more excited to see how he feels about it when his ears are better :)

Morgan isn't as excited as me ;)

Dad's Perspective: A Heart to Heart with the Doctor

When the neonatologist tells you to sit down, you may want to listen.  Such was the case the day after Mason was born.  

The day before had been a whirlwind... watching a transport team load up Mason for his trip to the Level IV NICU 40 minutes away, saying goodbye to my wife recovering from her c-section at a different hospital, hastily packing for an unexpected overnight stay, and kissing my oldest goodnight as he’d spend the next few days under the watchful care of his grandparents.

I don’t remember how far after midnight it was that night that the neonatologist and I had our little discussion; time was a little bit blurry. But in the previous twelve hours, Mason had been through more x-rays, tests and doctor examinations than most go through in years. Finally, there were some results to share.

I’ll never forget sitting there listening to her speak. Looking back, I remember this as the “This is what we know” speech from the doctor. She started with his brain and worked her way all the way down his little body...his ears, nose, mouth, heart, stomach, and more stopping at each one to tell me what wasn’t right. It was a long list that seemed to never end.  I know that as she was speaking to me, she was definitely witnessing a deer caught in the headlights. I wasn’t ready to hear what I heard, and in that moment the day that had seemed so surreal to that point became our new reality.

As one who likes to feel like they have control, the news of my son’s urgent medical needs was overwhelming.  I sat there alone.. realizing that there was nothing I could do to make Mason better. I cried out to God for my beautiful baby boy.  I turned to Him for comfort, and He responded. Truths of Scripture from God’s Word came to me in that moment. I opened my laptop and began to write. I’ve come to think of this list as the “This is what we know” speech from the Doctor of doctors.

The words were simple.. yet rich in Truth drawn straight from His Word:

• God loves Mason 
• God created Mason just the way he wants him
• Mason is a blessing from God
• God has orchestrated the time and place for Mason to be born 
• God has entrusted the care of this precious little boy to us! 
• We can't handle it on our own but He is our helper
• God is Jehovah Jireh, the God who Provides 
• God is Jehovah Rapha, the God who Heals

  

Mason will be three and a half in February. These truths are timeless to my heart and we will continue to rest in the words of the greatest Doctor. No matter what our situation, I am grateful that He is always available for us to sit down and listen. And He always has Truth to share.

Our Checklist for a (Semi) Wheelchair-Accessible Home

The time comes at different points for different families - the time when a move is required to deal with accessibility issues. For us it came a few months ago when Mason broke 30 pounds. We needed a wheelchair in the house to get him around, and we needed a way to get the wheelchair around the house too.

Not having a budget or time to build a house that is totally accessible for a wheelchair (we had 30 days from the time our old house sold to close on another one), or to buy a house already built to all the ADA specs, but nevertheless needing something more workable for our specific situation, we went on the hunt for a house that we called, for lack of a better word, "adaptable" or "semi-accessible."

So what were we looking for? What were our priorities? First, we made a list of what we DIDN'T need. We crossed off our list several items most people assume are necessities for accessible homes but aren't to us right now.  Things like accessible showers, handicapped ramps, stair lifts, track systems, accessible sinks/countertops -- while they may be needed eventually, these are not required for us yet. Instead, we needed a home structured in such a way that it would be easy to add these things as needed later without a lot of demolition and rebuilding. For now, we wanted something very "Mason-friendly" and flexible for the future. It couldn't be overall much bigger than our previous house as far as finished space due to budget, just a better use of space. Here's what our "dream house" looked like us (we moved in October 8):

1. RANCH/ONE STORY
Our goal was to have everything on the same floor so that stairs aren't even an issue. We do have a basement for storage and storms. But there's no reason for Mason to need to go downstairs much. One of my favorite parts of the new house is having the laundry room on the main level! This will be great for all of us as we get old :) At our old house, we didn't like having to send big brother downstairs to the playroom. This time we looked for bigger main level bedroom for him that would allow us to keep his playroom and most of his toys in his room.

2. WIDE HALLS / DOORWAYS
The most important item on our search was for a hallway that would accommodate a wheelchair. Most of the existing homes in our budget where we lived were older and had very narrow halls (including the house we already had). To find the wider halls we had to move further out of town but we felt it was important enough to our well being that it was worth a further drive. We doubted we could find doorways that would accommodate a wheelchair even in a house with wide halls, but what a blessing to find that his wheelchair fits easily through the master bedroom door (where he sleeps) and through the master bath door (where he bathes). Mason will be able to get "curbside" service for a long time and our backs are very grateful!

3. OPEN FLOOR PLAN
Mason's main mode of mobility right now is rolling. Because of his sensory defensiveness, he also prefers carpet to hard flooring. So we needed someplace with lots of open carpeting for him to explore safely. If it turns out he moves on to walking or even ends up getting around by wheelchair or gait trainer instead of rolling, this setup will be easy to switch out to laminate or hardwood. This house not only has exactly the kind of layout we needed for that, but the whole living room also can be viewed from a distance so I can keep an eye on him even from the kitchen. The kitchen is a great place for using his gait trainer too because of its open hardwood design.

 

4. EASY-TO-LOAD BATHTUB
Mason loves the water and he's still a tub guy. For practical bathing we aren't much into the special needs "bath chairs" yet, mostly for reasons of storage and the fact that it's really hard to get the back of him clean if he's sitting in a chair. So we wanted a tub that is big enough for a grown-up to fit comfortably, and a tub not blocked by a toilet like our old tub was, or by the faucets, which would prevent caregivers from lifting him in easily. Right now we use a neck ring and earplugs system so he can float and play and we can get him clean on all sides. This house also has a shower stall and space so if we have a change of heart we can switch the shower out to the roll-in variety later down the road.

6. STORAGE
 We are especially thankful for a bigger closet in our room to allow us space not only for clothes, but for lots of Mason's medical supplies. His infusion and feeding equipment all have a nice "home" now instead of taking over our bedroom :) The living room coat closet stores lots of his therapy gear and there is a perfect "nook" at the back of the living room, out of his "roll" zone for keeping his stander and wheelchair when not in use.

So, those are the highlights. We love the neighborhood too and that we can use the subdivision pool for aquatherapy in the warmer evenings of summer. We feel very blessed to have found so much of what we were looking for in such a short time. We'll still need to make some changes to make it work financially so pray for us as we seek to figure out all those details. In the meantime we've enjoyed a very snowy winter settling in!

Can't wait for warmer weather to spend more time at the wheelchair-accessible park 5 minutes away!! :D