NIH News, Part 1

We are home!! Talk about a whirlwind...both literally and not so much... we are still "reeling" from all the new info we learned at NIH and how to best act on it...but I'll attempt to give a reader's digest version here ...


If you haven't been keeping up, we flew in to Bethesda MD on Sunday afternoon last week to take part in the National Institutes of Health's Undiagnosed Disease Program. We almost didn't get to fly out due to Hurricane Sandy but by God's grace the flight did not get canceled so we got into town just in time before the storm hit. Getting in was pretty intense (entering involves car searches and major security measures because we were visiting a government compound basically). After arriving, we found out the NIH had to close down for Monday and Tuesday due to the DC area's metro train system shutting down.

Arriving at The Children's Inn

A rainy 2 days (the view out our window of the Clinical Center)

So for two days (Monday and Tuesday) we hung out at The Children's Inn at NIH ...fyi, if you ever have to get stuck somewhere, this is the place to do it ;)  They had volunteers who cooked us dinner twice, a stocked pantry, kitchen, playroom, crafts room, game room, computer lab, library, google TV...there was plenty to do for Micah and thankfully, we never lost power!

Early Wednesday we were all admitted and that's when the real hurricane hit! We met Mason's team (the biggest blessing of the whole trip were the people on our team--they were the most kind-hearted, dedicated, interested, thorough medical pros we have ever had the pleasure to know!!...from sun-up to sundown, the boys were their "patients of the week" and we've never experienced anything like the sole focus we were given! We are used to seeing docs once a day on rounds. This team worked tirelessly ALL DAY with us, asking questions, seeking input, nonstop trying to get in histories, physicals, tests that were originally planned plus adding new ones on the spot as the need came up, with results to most immediately available (not the genetic stuff of course, but almost everything else...) -- basically getting everything done we could physically do in 3 days, with barely a moment to spare even to sit for a snack or drink ;) So...despite being exhausted and stressed to the max...it was an AMAZING week and unforgettable and even if we never learn another thing from the trip, we gained invaluable direction and insights that will help us for years to come. Here are some of the things we did...and what we learned...

MICAH

 

Treat in the mail every day!!

Clown nose from the mailbox!

Micah saw his own litany of doctors and specialists including neurology, physiatry (a rehab medical doctor), rheumatology, immunology, speech, PT, OT, genetics) to try to sort out the muscle issues that have been mentioned by his physical therapist. Micah's muscle weakness issues seem to happen with infections, possibly related to autoimmunity or his thyroid condition. We are not sure if our family's thyroid issues are autoimmune or not, since no one ever shows autoantibodies, just high TSH. We are to have him followed by a pediatric endocrinologist (he is tall and heavy for a 5 year old) to follow his growth and development, and to do labs (TSH, T4, antibody panel, sed red, complement CRP, cortisol) when he is actually sick. Since Micah didn't have an active infection at the time of the exams, his muscles were only mildly weaker than usual, in the hips. However he has "diffuse and significant hypermobility" all over his body (meaning a defect of his collagen or adhesion molecules...you've seen those laminin videos by Louie Giglio? Kinda like that. The glue that holds him together (the ligaments and soft tissues that keeps his bones and joints in place, is either defective or damaged.) Everyone was convinced he should join the circus :) So...his profound looseness has caused him to APPEAR to have hypotonia to his dr and therapists because his trunk and limbs aren't held up/supported properly. He actually has a joint laxity syndrome related perhaps to Ehlers Danlos syndrome, that makes it much harder to do the same things physically as other kids. Although he already wears orthotics, the neuro-rehab dr said his are not nearly supportive enough so we will be getting him some custom ones made. The reason for his sensory issues hasn't really been determined yet (he didn't have any imaging just bloodwork). He also needs to see a gastroenterologist for possibly undiagnosed GI issues (Hirshprung disease is what they want to rule out for him). They told me the same items that Micah needs to watch for/be treated for, so do I.

BOTTOM LINE: The concern level for progressive neuromuscular conditions is much lower for Micah! Micah's biggest issue is probably a connective tissue disorder - a hypermobility syndrome that does not appear to be a milder version of what Mason has, but rather a separate syndrome that is a more severe presentation of the loose joint condition I have. Since we dont know the source of the hypermobility yet (skin biopsies can help), we don't know if it will get worse or if it affects other organs besides ligaments/joints/soft tissue or not, but it's possible it could improve as he grows. He will need intense PT and probably OT all his childhood and probably longer to maintain muscle strength needed to compensate for the laxity so he can keep up with his peers better. It does not affect his intelligence one bit and he is a very smart little guy :) We'll keep an eye on his thyroid/autoimmune/muscle issues and see a GI dr. and physiatrist for better orthotics and management.

MASON

Yes, Mason also has the profound hypermobility issues that Micah has, plus a lot more...a difficult "double whammy" they said, but the general impression is that he doesn't have a "worse" presentation of the hypermobility, just that he has laxity of tissues in combination with some other worse genetic condition on top of it. The search is on for what has caused that "other" condition. They are hoping that condition was a random event (not inherited). Here is their testing approach for Mason:

1. Test for KNOWN single gene mutations that cause syndromes SIMILAR to what he has (he has features of these conditions but not "typical appearance or presentation"). These tests have already been sent out, awaiting results, and include mutations for CHARGE syndrome and Rubenstein-Taybi syndrome. Tests are also being sent for Congenital Disorders of Glycosylation (because the Dandy Walker malformation of his brain alone should not cause epilepsy or such profound muscle affects as Mason has). They haven't ruled out mitochondrial disease. They will also test my blood for "x-inactivation" issues (this one is too complicated to explain in the blog but you can google it if you have interest.)

2. If none of the known conditions pan out, research will begin to test for new conditions. We already know Mason is missing 14 genes on chromosome 17. But everyone has two copies of genes on the numbered (autosomal) chromosomes, one set from each of their parents. Usually, missing one set of genes just makes you a "carrier" for problems unless the condition is DOMINANT (you only need to have one missing or mutated causative gene to create the disease). It may be that the hypermobility issues are related to the deletion as a DOMINANT condition...but it's only when BOTH sets of genes are missing or mutated that you have big problems because then the body has nothing to compensate for those missing or damaged gene products. Because Micah and I carry the same deletion, it's unlikely the cause for his syndrome by itself. But if Brian has a mutation on one of those same 14 genes that Mason is already missing, and he gave him his mutated gene from the same area as the deletion I gave him, that would create a new autosomal recessive condition never before seen. We would then be going back to NIH for more research to characterize this new syndrome.

3. If there are no new conditions related to the deletion, testing will expand using a newer process called whole genome exome testing. In other words, every gene that produces proteins in the entire body will be systematically checked for mutations and compared to Micah's and mine to try to locate the cause of his syndrome. This is a a very expensive and inaccessible test to most people right now so to have this freely available if needed is an overwhelming blessing!

Besides the genetic testing in progress (which could take weeks to years to lead to any answer...but we will now be in the program as long as it exists and will be followed indefinitely in the event similar cases inform ours as the years go by)...an amazing collection of clinical data was collected this week. We know a TON of new things about Mason including:

• he has a cleft/bifid tongue and many other "midline defects" that will help them understand the biological cause of his syndrome
• he can't turn his eyes outward either way to look to the sides much ("Duane syndrome" of the eyes) which along with his limb defects helps them have clues as to what genes to look at first
• he has blocked tear ducts causing his constant eye discharge (earlier we were told the ducts weren't blocked) which can be treated but may need multiple probing attempts to clear
• he has an ectopic posterior pituitary gland (the back part of his pituitary gland is in the wrong place in his brain) and pending testing may show if any hormones are affected
• his brain is laying down white matter and insulating the nerves (aka things are getting better not worse, but just slowly!!!!)
• he doesn't really have any sinuses to speak of yet
• he has central and peripheral components to his hearing loss and needs a ct scan of his temporal bones in his ears to help with characterizing things better
• he may also have Hirshrung ultrashort segment disease of his GI system and needs further testing including colonoscopy (they really wanted us to stay at least another week to get all this done but logistically it wasn't practical right now for us to stay longer)...they also gave a wonderful new wound wash product and barrier cream for his gtube site/granulation tissue that is neither steroid nor burning like silver nitrate and works GREAT. They also gave better tips for venting...
• he has asymmetry of his chest and back and rotation of his ribs for further clues
• he has a small liver
• he needs further testing to find out the anatomical reason for his frequent UTIs and a plan for prevention (even boys w/o any functional immune systems dont get recurrent UTIs so there must be a bigger reason than immunity or dirty diapers)
• we need some new doctors including a complex care pediatrician to coordinate his testing and treatments, kidney doctor, physiatrist (a rehab medicine dr to coordinate and manage equipment and assistive tech needs), and maybe new neurologist
• he still swallows without aspirating and needs desperately speech therapy added to his regime
• we were given a new vibration toy for him to learn to hold things/desenstize some defensiveness
• He may not outgrow his immune deficiency but he is on a good treatment already for it (IgG infusions). They found out he makes plenty of B cells but they need to figure out why those B cells aren't producing antibodies IgG, A or M and what other components there are to his issues.

And that's not even everything..he also had an EEG, skeletal survey, skin biopsy and labs that were still pending which will tell us even more. What is the point of knowing all this for our family? Much of this new info gives us points for action--things that are treatable and give him a much better quality of life if fixed! Many syndromes are also associated with various health problems that, if you know about them, you can screen for and treat associated problems early enough to avoid drastic consequences (ie, specific types of cancer). But if you don't know what to screen for, you may find out too late to do anything about it. It may also help other babies born with similar problems to have a support, possible prognosis, etc. Most of all...we want others to know that even if we never find the answer this side of Heaven, we know the One who does and He's the one who's leading us down this path and opening these doors...so we are waiting to see what His plan reveals a day at a time. Thank you all for your continued prayers and support, it means the world to us, and we praise God for bringing this amazing team into our lives and offering us all the resources at their disposal to help our little guys get the best care, assistance and treatment to maximize their potential!

Finding Strength

In a few weeks our family is set to head to the NIH for their undiagnosed diseases program. We are hoping they can shed some light on what exactly is causing Mason's syndrome biologically, why it presents so differently in the 3 of us (me, Micah, Mason), whether the deletion is actually the main problem in Mason or if he has another condition that is known but just hasn't been tested for, if there are any treatments that may benefit him, and how likely this scenario is to happen again.

What's ironic in all of this is while Mason is doing much better (seeming stronger, eating more by mouth, seizure free since June), his big brother is beginning to concern us more.

Having fun at "the big gym" (PT/OT)

Micah's PT re evaluated him and said he is actually quite a bit lower on his gross motor skills score this year than last year. He stands up with "Gower's Sign" from lying down (this is an unusual way of getting up that kids w/ muscular dystrophy and other muscle diseases use, who have "proximal weakness" of the hips, trunk, etc) He cant sit up for more than 45 seconds without leaning over to hold himself up, or lying down. His sensory issues and hyperactivity have really escalated this year. It's hard to lift his arms very high, or to climb stairs without running (the PT said she thinks his hyperactivity is actually due to him having such a hard time physically sitting or standing still, due to weakness of his trunk). He also has kind of a sway in his back now. He's on cold #4 since school started mid August (this one he kindly shared with all of us to enjoy lol).

So clearly we do have some questions about all this. Why does Micah have these muscle issues? We know he shares the deletion w/ Mason and I. But we have been told Mason's muscle problems are due to his brain malformation. Does Micah have the same problem but milder? Or does he have another cause for it? (IE, is it related to his frequent infections? Does he have an autoimmune condition?  A nerve problem (he goes numb a lot, shaking his hands when they are "tired")? Does he have a myopathy or some other explanation for his weakness and tone? Is it due to his thyroid problem? (We know that can cause muscle disease if not well controlled, but it's rare in kids, and usually affects just the limbs not the trunk so much, and Micah's thyroid levels have supposedly normalized now). Is it treatable and will it get better, stay the same or get worse? How does it relate to Mason? Does Mason have another issue with his muscles besides his brain malformation? God knows. I don't know if NIH will or not but we're thankful for the open door to find out what they are able to tell us. Pray we'll have strength do endure that week of testing (they warn us it will be exhausting and difficult) and whatever new information we obtain from the trip.

"...'my power is made perfect in weakness.' Therefore I will boast all the more gladly about my weaknesses, so that Christ's power may rest on me." 2 Cor. 12:9

"Strength for today, and bright hope for tomorrow...blessings all mine, and ten thousand beside..."

Bite by bite....!!

Last week, after getting permission from his GI dr, we decided to let Mason try eating again. We had taken a total break since about February since every time he ate by mouth he not only gagged, retched and hated every minute of it, he also got really sick (congested, wheezy, snotty) within 24 hours which lasted 2 weeks and no sleep for us during that time (not that we get any anyway lol). We had pretty much resigned ourselves to let it go, because it wasn't worth the misery he endured to try to eat by mouth.

BUT ...due to the need to try to bulk up his ... um, dirty diapers (Miralax causes some big blowouts and he needs to be on it to stay "moving,"...) and rather than put him on yet another supplement (fiber) we decided to see if he could get any fiber by mouth.. so.we tried oatmeal and pears. I use a spinning power toothbrush for kids to feed him, but cover up the end with a rubber finger baby toothbrush to make it as close as I can get it to a zvibe (a vibrating therapy spoon, which we'll get him soon)....

Well, suffice it to say, SOMEBODY showed up to EAT! ...Just look at him go! :D
 

Hmm..what is that...smells good! (WHAT?! He's always turned his head and growled when he's seen food coming!!)

Hm...let me TASTE it! (He's NEVER used his tongue to sample stuff by licking it like this!!)

Yumm, I think I'll have another lick!!

OPENS HIS MOUTH for a bite!! And swallows! Again and again!!

 

The boy ate the WHOLE tablespoon of food we offered!

Blurry because he's CLAPPING FOR MORE!?!! :D

No retching, no gagging, no crying...JUST SMILES and

 claps

 and

 happy tears from Mommy!

Now if we can just beat this UTI and URI so we can get back at it...we might just find ourselves with an eater on our hands!! :D ... That is our prayer...

"...Without him, who can eat or find enjoyment?" Ecc. 2:25

Summer Summary ;)

I've been avoiding the blog lately, can you tell? There's just so much, I'm not sure where to start. And I keep trying to block out the first two weeks of June - that was a miserable time with seizures whenever Bear closed his eyes to sleep and pitiful crying non-stop for days. We ended up in the hospital, once by ambulance to ER, the other for treatment of status epilepticus which we wondered if he'd ever be himself again after...HOWEVER God is good and by His grace Mason's as sweet and smart as ever ;D And this summer there were lots of very special occasions and happy times too and I never want to forget those!! So here goes (yep, it's a long one!)

June--
We got out of the hospital in time to have a "Secret Agent Party" at BounceU for Biscuit who turned 5 (yes, FIVE!) ...

• Biscuit got a new puppy from mom and dad for his special day (the first "real" pet in our family besides fish and hermit crabs)...She's a cockapoo, and he named her Morgan Jolly (yes, we need a little "Jolly" around here!) She is quite a smarty -- she's learned to sit, stay, lay down, roll over and is potty trained by her bell which she rings to go out. Now...if anyone has suggestions to how to teach her how to contain herself when a stranger pets her or comes in, and not piddle on the floor, that would be great! :)

• 

We also went to KC where his grandparents hosted a fun Angry Birds party. :D
  
July -

• A great visit from blog buddy Sam and fam! (Thanks again for stopping by!!) :D

 

• Downtime between therapy and other daily adventures (they both love Roku, and each other)!

•  plenty of Pump It Up, water play and Little Gym for Micah...

• Mason's ear tubes take two, and GI scope (showed bleeding and gastritis but no explanation)

 August -

• Mason was seen by a new orthopedic dr. We found out some sad news from the x-rays - that he has developmental hip dysplasia :( Pray that it doesn't get worse. The dr expects him to need major surgery within a couple years because it has gone from normal to almost critical in only a year's time. The surgery involves recovering for months in a full body (chest to toes) spica cast so please pray he can somehow avoid this. :( He was also casted for AFOs to help give him leg/ankle support, which we are still waiting to pick up. 

• Equipment demos ...(trying out some pediatric wheelchairs like the KidKart...

 and Kimba Spring with Squiggles Seat (this is our fave now) ,

 and the KidWalk (for gait training/mobility...) . He can't really "walk" in it yet..but he is tolerating it well and starting to learn how to move it backwards or forwards and claps when he is able to do it!

We also got him a Special Tomato floor sitter with a gift from our church. (Thank you!! It keeps him from sliding down - he has a problem with arching/squirming down in the sitting position and this has a pelvic abductor to help him stay up! Yay!!) And we were able to borrow a stander w/ a tray to help him bear weight while he plays...

• Biscuit's first day of Kindergarten (I'll spare you the picture of his hugely swollen arm after his shots, poor guy!). He is LOVING his school and friends and classes and doing great!!...can't believe he's so big!! :)

• Awesome visits with family and trips to fun spots like city museum and the museum of transportation...

• Mason's Second Birthday!

 We had an "Anchors Aweigh!" sailboat theme because he loves playing in the water and hearing dolphins "chatter" and boats "toot"! He has a sound activated crab he loves too. We also hoped the theme will be symbolic of all the things "holding him back" that he is able to break free of this year! :)

 He got a new hammock swing (his baby swing is way outgrown), a singing/dancing toy puppy, tooting tug boat, tummy time pillow, Little Einsteins piano and helicopter, a lightbox and water beads, wiggly giggler, ocean wave drum, and a very realistic cow noisemaker along w/ clothes and lots of other fun sensory goodies!

 On the horizon...
The National Institutes of Health trip has been set for fall...still waiting for more details but both boys have been asked to come and take part in the testing.

In the meantime, Mason has battled tummy and sinus issues all summer (and therefore sleep is not easy to come by). That is a big prayer request right now...that we will figure out how to best keep him comfortable and free of infections without having to constantly keep him on Biaxin and that we can get some much needed sleep for a good long stretch! :)