A sensory pod from an improvised black-out tent

Ever since we went to Myseum,  I've wanted to make a sensory space like theirs, featuring glowing lights in a dark area for Mason. He really enjoyed that exhibit, since he has light perception, and thought it was very cool...

They have blacklight-reactive letters and shapes on a carpeted wall, which we may eventually try to do.  But in the meantime, I was thrilled to find a way to give him a blackout sensory space that's more affordable. I was actually looking for a way to mimic the feeling of being in one of those small inflatable kids ball pits because Mason used to love his Mickey Mouse Clubhouse ball pit.  But it popped very  fast so we needed to think of an alternative.

One solution is using a black pop-up portable pod like this one one from Amazon. Blackout tents marketed for people with special needs cost hundreds of dollars, but this one is marketed as a dressing room and cost me $39.99. (It needs a wall nearby for stability, since it's made for staking into the ground...wouldn't work for horseplay inside.) With pillows around the sides, a long cushion from an outdoor lounge chair to sit/lean on, and a body pillow across the doorway, the feeling is very similar to the inflatable ball pits. Soft is important so Mason feels safe. I think he approves :)

And the black walls make for an extra layer of fun with toys that light up!

We're excited to find more ways to play with light in his own sensory pod  :)

Communication Update...My First AAC w/ Tactile Keyguard

Mason recently received a grant from Ellie's Project for an iPad Air to help him communicate! It has been amazing for him! We are using an app called MyFirstAAC. Because he can't see well to find the buttons for words, we made a homemade "keyguard" (soft grid around buttons made of the fuzzy side of Velcro). This new setup allows Mason to show us what he is capable of in hopes that he may eventually be able to get a device with bigger screen like Tobii T15 (possibly with eye gaze system) or similar through insurance. He has to be able to prove he can use AAC to get it covered, as the Tobiis are uber expensive. Although these videos may seem to show very simple accomplishments (touching a button to say a word or phrase), they show he has the desire and intent to communicate, the motor ability to do so, the cognitive ability to accurately know what to say, good enough hearing ability to understand what the button says when he presses it, and the tactile discrimination/memory to locate a specific button mostly by touch. We are beyond thrilled with this progress and wanted you to see what he is learning too! :)

In this video, Mason and I have been playing with a ball on his tray. The ball fell to the floor, and he asks for it back! :)

In this video, Mason's favorite cartoon is ending and he wants me to restart it. Watch as he thinks about what to say, and then presses, "Come here please!" very deliberately :)

People were overwhelmed with amazement. “He has done everything well,” they said. “He even makes the deaf hear and the mute speak.” Mark 7:37

Closer to answers?

It's been a long time since our family visited NIH for the Undiagnosed Disease Program (2012) - 4 years! We recently received results both from the NIH and from a re-testing done by our home genetics drs (this clinical whole exome test wasn't available at the time we signed up for NIH).

I will warn you the results of this testing were hard to swallow because I am a carrier of some very bad things. But apparently everyone carries at least 7 or 8 diseases, some deadly...you would just never know which ones unless you had such extensive whole exome testing or had an obvious family history (I come up negative for every disease mutation tested on extensive PANORAMA preconception genetic panels, FYI, so there's no way I could have known any of it existed in advance).

MASON

• STRA6. Mutations in this gene are known to cause a severe syndrome involving anopthalmia (meaning affected babies do not develop eyes). Because it is a recessive disease and Mason only has one mutated STRA6, not two, they aren't sure how much it's affecting him. Because he has such severe eye defects, plus many other mutations in concerning genes (see below), plus the deletion we already knew about, these other changes may be making STRA6 affect him more severely than it would affect other carriers...aka, me :/ Mason inherited this mutation from me, on chromosome 15.
• GLE1. Mutations in this gene are known to cause a severe disease in babies called Lethal Congenital Contracture Syndrome. But since it is a recessive disease and Mason only has one mutated GLE1, not two, they aren't sure how much it's affecting him. Mason didn't inherit the GLE1 mutation; it was de novo (a new mutation not affecting anyone else in the family).
• MON2. No one knows anything about this gene, but Mason has two mutated copies of MON2 (one from me, one from Brian). It has never been associated with human disease and there's not much mice research to go on, so they aren't sure what effect it's having on Mason, if any. The fact that he has 2 mutated copies makes it something to consider. (Micah inherited neither of these mutations).
• COL4A6. Mutations on this gene are known to cause familial deafness. They said it may play a role in Mason's hearing impairment. It is X-linked, inherited from me (sigh). Micah didn't get this mutation, just Mason. In X-linked conditions, males are affected more severely than females (because girls have 2 X chromsomes, the healthy X can sometimes compensate for any mutations on the other one; guys only have 1 X and 1 Y so cannot compensate as easily).
• WDR37. This mutation is the one everyone is focusing the most attention on right now. Mason only has one WDR37 mutation, not two, but in mice, mutations in this gene have caused problems similar to Mason's. Not only that, but since the NIH results were reported, the clinical lab reports two other children have been located with single mutations on one copy of this gene and they have similar categories of features. Our doctors are in process of contacting them; if they can confirm the kids are very much alike, it is possible Mason is one of three with a new syndrome. If they aren't as alike as they sound in the report, it's more likely that "Mason syndrome" is simply due to a totally unique combination of all these mutations plus the deletion. No one else in the family is affected by this mutation. It is de novo (new/not inherited).

MICAH

As if it wasn't crazy enough that Mason has all these "never before seen" mutations and the three of us share a "never before seen" deletion, it gets crazier.

Micah also has his own "never before seen," probably disease-causing, mutation, which Mason doesn't have.  We hope to be able to share more info on this mutation soon.

 All this to say... more waiting but we may be closer than ever before to knowing whatever is knowable from a genetics standpoint, and maybe once we know more details, there eventually may be ways to help alleviate some of their symptoms. Overall, it confirms what we already knew...life is good and God is great and our futures are in His hands no matter what the results say :)

Mason's ramp by Gramps :)

This past week we were incredibly blessed by both sets of Mason's grandparents! "Papa" (Brian's dad) met Brian with his car full of his tools and big saws to be used on a very special project. Then Mason's "Gramps" (my dad) used Papa's tools to build a very snazzy wheelchair accessible ramp in our garage, complete with a spring-hinge gate and step for the rest of us:)

It turned out great and has already been used several times - we love that Mason can be loaded into the van so easily without exposing him to weather and with much less heavy lifting required!! I can also take Mason out for a walk easy as that, anytime (if the weather will just warm up soon!!) He will LOVE that (and so will I)!!

We are so grateful to God for such awesome grandpas :)
Our hearts thank you so much, and so do our backs!!! :D

"Every good and perfect gift is from above." 

James 1:17

Hip surgery decision update

Many of you have been praying with us about Mason's hips and what to do about the surgery decision. Thank you for those prayers, and please keep them coming :) Here is an update about what is going on so far.

We actually had hip surgery scheduled for late February with a dr who said he does the surgery without using the full spica cast (just immobilizers instead).

However, in January, when Mason had his 4th set of ear tubes placed, and a dental cleaning under sedation, he had a major reaction to the intubation which caused him to have difficulty breathing (post-ventilation stridor - edema/inflammation/swelling of his airway) for 2-3 days afterward. This was very scary and because his eyelids were also swollen and he had skin blotches we don't know if it was an allergic reaction or mechanical reaction to the vent alone; it happened despite all kinds of preventive measures (steroids, anti-inflammatories, etc). And that surgery was about as minor as it gets...less than an hour under sedation w/ very minimal pain. The proposed hip surgery was going to take many hours, and the post op pain predicted to be off the charts even with strong meds (the dr would be sawing both legs in two and nailing them back together in many places).

Then, the day we were originally supposed to meet with surgeon for the pre-op hip consult, Mason was having his first day of recovery from one of the worst stomach bugs he's ever had. He was so sick from a Monday to Sunday that we literally feared for his life on several occasions - due to difficulty keeping him hydrated (and IVs when he is dehydrated are so impossible and stressful that we feared in his extremely weak state he would have a bad outcome from the trauma). God's grace in every way brought him through this!! We have lost a few years of our lives (like the machine that sucks it away in Princess Bride lol!) but although he lost a few pounds he's back up so well now that we actually were told by the dietician to back off 50 mls of his formula (even though he's already calorie restricted!?). Still, we could not in good conscience allow him to go through such a huge surgery especially after all he'd already been through in Jan. and Feb. The benefits to risks just do not seem worth it.

Besides all that, we found out that only about 50% of those w/ neurological conditions and hip displacement have pain from it (the other half don't have any pain from it). And we found out that the younger the child is when he is operated on, IF he also cannot walk, the higher the chance he'll need the surgery again: "Those with the greatest burden of disease require earlier surgery and suffer from the higher revision rates (need for repeat surgery)."   Besides that, it wasn't really going to help him in any functional way, as surgery in kids who can't walk has been shown "unlikely to maintain or restore mobility. Furthermore, it carries a significant risk (63.6%) of complications." 

Several moms of kids who did this surgery said their child was not in pain before the surgery but was afterward, and they regretted it,  or some skipped it without regret. Mason's rehab dr, after discussing this with her, said that if he is not in pain now, we can watch and wait; surgeries after hips dislocate have a low chance of success but there are new management strategies on the horizon to help with pain if hip surgery is never an option for him (ie, Botox, nerve blocks, etc).

So, we are going to wait and pray. Pray that Mason's hip socket continues to develop and that he does not ever need the surgery due to pain or full dislocation. We are incorporating everything we know how to do to slow the dislocation process down. For example:

1. 24/7 POSTURAL CARE!! Nobody has ever told us that sleep position can cause hips to dislocate faster (along with other horrible effects like constipation, scoliosis, body asymmetry, digestion issues and more) but we have been researching like mad and discovered ways to help stop and prevent further issues through positioning. Mason has been a side sleeper since birth, and simply supporting him at night with pillows in proper alignment can supposedly help arrest hip dislocation. So, we have been using a knee pillow and having him hug a cylindrical toy until we are able to transition him to sleeping on his back with supported hips (the preferred position, but we don't know if he can breathe well enough with reflux issues in this position). During the day, proper support in his wheelchair or other seating systems will help protect his body shape. The need for postural care especially at night is only recently being warned about in USA but it is well documented in Europe.

2. Standing as long as tolerated each day in a stander (For Mason that's 30 min to an hr - usually about 45 min). He has new DAFOs (hinged kind) that have a special joint with a style made just for him that the orthotics lab has never made before, bends at the ankle and has plantar stop to help his tone in his feet (he tends to point toes like a ballerina). He feels very strong in these, is hyperextending knees less and is standing with less support! The more he will stand, the better his hips have a chance to continue to develop good sockets.

3. Using an ergonomic backpack (A Tula toddler carrier) to help his legs stay in good "frog" position to form sockets); we also carry him in this position when not in the backpack for transitions room to room if not in his wheelchair.

4. Firefly Upsee. We were given one of these incredible systems through a grant, and after reading this miraculous hip story about Daniel we are determined to use it as often as possible (even though it dislocates MY hips to use it with him lol--he is a heavy guy!) When he outgrows this we are very interested in a new product (not yet available in USA) called InnoWalk (like a stander mixed with an elliptical trainer) that would allow Mason to "walk" supported (and continue to develop hip sockets) even if he cannot ever walk on his own.

5. KidWalk gait trainer. Mason has been using this a couple years now and just recently learned how to make it go forward as well as backwards :)

Who knows if any of this will make a difference or if he will end up getting surgery eventually? But we want to do everything we can to try to keep him comfortable, and pray that God will bless us again with His grace to keep Mason's hips painless and developing well. We feel that God made it clear that at least for now this is not the time to proceed with surgery.