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.

Exploring AAC

 

 Last year Mason had an evaluation with an AAC team (Augmentative and Alternative Communication) at our local children's hospital. They recommended we try auditory scanning with Mason, since we have always felt that he seems to hear better than he sees.

Auditory scanning involves listening to choices on an AAC device (iPad, in Mason's case) and waiting until the preferred choice is spoken aloud to hit a switch and choose that item. We've been working with the speech therapist provided by our local school district to try out some of this equipment with him (borrowing equipment from the state assistive tech library).

Before we tried scanning we wanted to be sure Mason understands cause and effect - that he knows hitting a switch helps him control a choice or action. We know he does because he uses his switch to activate a series of rewarding video clips in a simple, free app called "Sensory Room."

He also shows us while watching TV that he knows when to activate the switch (notice how, in the clip below, he is watching his favorite YouTube playlist on TV; when he knows a video is coming on he doesn't like (and he knows them by heart; he particularly doesn't like the song "Do You See an O" so in advance he usually fusses very aggressively to let me know he wants me to skip that one; but now that he has some AAC tools, he isn't fussing; he instead asks me very intentionally for help to skip it by clicking the head switch on his right :)

So, now that we know he understands use of the switch, one of the most basic apps we're using to teach auditory scanning is called Racing Cars  by InclusiveTLC. Mason loves it, and he understands that he needs to hit the switch to activate it; the next step is trickier as the voice will then say "nothing here" and keep saying "nothing here" until it gets to the box showing a car; then it says "a racing car;" Mason, upon hearing "a racing car" must hit his switch to choose it and make it race around the track.

The problem we are having is knowing whether Mason hears well enough to distinguish "nothing here" from "a racing car" when they are spoken in sequence. This is key for him to properly use the technology; we know he hears sound because he giggles but he giggles when either phrase is spoken. We are looking into the possibility that an FM system may help him hear more clearly to distinguish these phrases in a meaningful way. (Many people who do not hear well, even though sound may be amplified by hearing aids, explain that that hearing sound does not necessarily mean understanding the sound, especially on a TV, radio or other device). Mason knows he has to hit his switch again to make the car race, but he has trouble knowing when he should hit it this second time. Pray with us that audiology will be able to help us if know if distinguishing sound is an issue for him, and if so, some possible ways to overcome this.

For now, we are using the app GoTalkNow to make him some basic communication boards. But he'll need to show he can do auditory scanning before they are very functional for him. In the meantime, we're going to have him practice using screen mirroring on our TV (using a digital AV HDMI cord by Apple - where he can play his apps on the iPad but they display on the TV instead, and his switch still works with it). That way the display is much bigger so he can also hopefully see the images better. We are excited that so many options exist for helping kids with dual sensory losses make the most of their existing abilities to communicate with the world around them :) We'll update later with how it's going on the AAC front ...

Hip Dysplasia Second Opinion, and a Tough Decision

In August we found out that Mason's hips are partially dislocated and need a very big surgery called bilateral varus femoral osteotomy to fix them. Because there are so many factors to consider with Mason and surgery, we got a second opinion last week.

Here is a pic of NORMAL HIPS taken from the web (links to source)...

See how nicely those femoral heads (the round parts of the tops of the leg bones) go into the sockets on each side by the arrows? They are almost flush with the joint socket inside, and the heads are well-contained inside the hip joint ... no part of the femoral head is uncovered past the green line shown. And the angle is pretty sharp as the legs face into the hip joint (see M to E above).

So at the second opinion dr, he took xrays of Mason AND Micah (because Micah has trouble running and sometimes walks with a stiff leg on one side and we know he has EDS but he's never had any x-rays of anything leg-related until now).

Here is MICAH'S XRAY

The orthopedic surgeon said that Micah's hips are not in the sockets correctly either :/ In the pic you can see how on both sides the femoral heads protrude out of the socket by 25% or more. The heads also do not sit very flush against the inside of the sockets, and the angle at which his legs enter the hip is much straighter in his legs than what is normal. His femurs are also twisted a bit too much. He said because of underlying EDS (loose, stretchy ligaments), Micah's legs will more easily slide in and out of their hip joints and it may cause some issues in the future. This is something we will discuss more at his appointment with his EDS dr next month.

 Here is MASON'S XRAY:

Mason's hip on one side is over 50% displaced. The other he called 40%. His doctor said he has "hips at risk" (of total dislocation) and that the dislocation is "inevitable" and that if we wait until skeletal maturity to operate and they come closer to being out, it "will be a disaster." Both drs agreed he should get the repair before he is 5 for best possible outcome. The reason for Mason's problem being worse than Micah's is that Mason has neuromuscular disease on top of lax ligaments/EDS. Many children with cerebral palsy have hip displacement surgery; although Mason doesn't have CP, he has hypotonia, and the lack of walking and normal weight bearing has prevented his sockets from developing normally (totally different than "DDH," or developmental dysplasia of the hips, which can happen to otherwise healthy children from environmental effects). While Micah's hips may slip in and out, Mason's will slip out and never go back without much more complex surgical intervention.

I have tried to look at this problem from all angles and really, really want our policy to be "no surgery unless the recovery is super easy or unless it is a life-threatening problem." However I am not sure we can in this case. Hip dysplasia is not a life-threatening condition in and of itself; however it is apparently a very big QUALITY-of-life threatening issue. We do not want to skip surgery if it will lead to unmanageable pain and a worse surgery later that will be less likely to help relieve his pain. This article sums it up: "Early diagnosis of hip displacement is important because treatment is more successful when children are young. When hips become dislocated and painful, it is very difficult to treat and there are not many options for treatment.  If the hip dislocates, the problems that the children will have are terrible and the pain can be difficult to treat. We recognise that some parents don't want to consider surgery, especially if it's before their child is in pain. Many parents agree to surgery as a 'last resort', and many choose to try complementary and alternative medicine options first to see if they will help the hips. However, we found in this study that if children miss the opportunity to have the surgery, it resulted in far worse outcomes for the children and more pain long term."

I asked his NIH team their opinion (whether benefit outweighs risk) and the deciding factor for them was to find out if the dislocation is symmetric. Since it isn't, it becomes more pressing to fix it; otherwise he will develop severe pain at his spine where the bones rub in sitting off balance.

We will need to just be covered in prayer for this surgery if he absolutely needs to have it, which it sounds like everyone we have consulted is in agreement that he does... here are some of the specific requests we have:

1. Doctor/hospital selection. The first doctor we saw has more experience and overall great reputation but he is at a different hospital than we have ever used for surgery and therefore they don't "know" Mason as well. It would be harder to collaborate with his other doctors there.The first dr also proposes a slightly more involved surgery, with possible need for a spica cast for 3-6 weeks to months depending on recovery. A spica cast is really out of the question for Mason because of his blowout diapers happening almost daily (and a cast change under sedation is required whenever it is soiled); there is no way we could have a cast change every day or two for weeks or months).

2. Pain relief. Narcotics cause major problems for Mason (GI--slowed motility/constipation/worse reflux and neurological issues (withdrawal, seizures, urinary retention which can cause cardiac problems) so we want to limit them but yet make sure he has plenty of pain relief. The doctor mentioned the possibility of a caudal block but he wasn't sure Mason is a candidate with his other issues. We don't want him to be on a ventilator long at all as he produces so much mucous from it that he needs to be suctioned extremely often, which causes bleeding inside due to fragile mucosal tissue, which is frankly miserable.

3. Complication avoidance. Our biggest concerns are life-threatening complications arising from surgery for a non-life threatening condition. We are concerned about blood supply (Mason has "pathologically small veins" and a previous unrelated procedure failed due to lack of blood supply; because this surgery causes major blood loss and frequent need for transfusions, we are concerned about avascular necrosis, blood clots/stroke (his labs show that he tends toward issues with thick blood, and his blood clots during collection, etc,), anemia, etc. The immobility is not a good combo. He also has immune deficiency which makes bone or wound infection a very real possibility.

4. Sleep. Mason is a side sleeper but this surgery will require him to sleep on his back for at least 1 month. He can't sleep on either side due to the wounds on both legs. He needs good sleep to avoid seizures and right now won't lay on his back at all due to fear of medical procedures in that position, etc. Please pray he adjusts quickly and easily.

5. Rehab...It sounds like it could be 8-12 months after surgery for Mason to be just "back to baseline" and that's if everything goes very smoothly. Pray it doesn't take that long to get back to sitting, rolling and using stander/gait trainer comfortably, and that he can exceed that once the hips are in place. Pray especially that they will STAY fixed and never need another surgery (with EDS, muscle wasting from immobility can cause the joints to get even looser, which is another big reservation for us). We don't know if Mason will walk regardless of the surgery (it usually doesn't affect outcomes much with mobility, but is mostly a pain prevention surgery).

6. Stress. Just thinking about this ordeal makes me want some nitroglycerin handy. Please pray for all of us to lean hard on Jesus, to rest in His presence and strength, and trust Him to carry our burdens.

Great is our Lord, vast in power, with wisdom beyond measure.

Ps. 147:5