Emotional Vomit of a Worried Mom

So since Noah and Nathan's appointment with the Genetics Doc (team) ...  my mind has been reeling a bit.  I got the letters in the mail today - from the appointment.  Ya know, the visit summery, the doctor's notes that he dictated.  So I am just reading through them....

Basically - the diagnosis we've been living under for the past 5 years is being taken away from Nathan.   That of Russell Silver Syndrome.

The biggest reason is - as Nathan is getting older, he is seeing less and less of the RSS features, and the brain malformations, the cleft palate - and maybe some other things, point in a different direction.
But he doesn't know what.

He mentions his "cerebellar vermis hypoplasia" which we know as Dandy Walker Malformation

the "bilateral frontal polymicrogyria" knew about that too

and "2 subcortical cysts" ....  knew about that....

Doc G. points out that he has a "marked 3 year delay" in growth.  He has proportionate small stature, thin musculature, and distinctive external features.  He has very mild clinodactyly, distinctive foot with presence of short second toe (shorter than both the big and middle toes) ...  he has distinctive craniofacies - which has a triangular aspect to it.  He has hypoplastic columella, cleft palate, cleft chin with prominence.

Not sure what  overhang columella is - looked it up and couldn't find any information about it really - just links to disorders ...  so I found out "columella" refers to the area between the nostrils ... and over hanging just means what it sounds like.

The picture below is NOT Nathan, it's an example of what is being talked about.....  

Then I saw stuff like....

"hypoplastic nares"

1. Hypoplasia is a congenital condition, while hyperplasia generally refers to excessive cell growth later in life. (Atrophy, the wasting away of already existing cells, is technically the direct opposite of both hyperplasia and hypertrophy.) Hypoplasia can be present in any tissue or organ.
2. The anterior nares are the external (or "proper") portion of the nostrils (nose). The anterior nares opens into the nasal cavity and allow the inhalation and exhalation of air.

 and "apparent telecanthus" ...

Telecanthus (from the Greek word "tele" (τῆλε) meaning far, and the Latin word canthus, meaning either corner of the eye, where the eyelids meet) refers to increased distance between the medial canthi of the eyes, while the inter-pupillary distance is normal. This is in contrast to hypertelorism, where the inter-pupillary distance is increased.

The distance between the inner corner of the left eye and the inner corner of the right eye, is called intercanthal distance. In most people, the intercanthal distance is equal to the distance between the inner corner and the outer corner of each eye, that is, the width of the eye. The average interpupillary distance is 60–62 millimeters (mm), which corresponds to an intercanthal distance of approximately 30–31 mm.^[1] The situation, where intercanthal distance is intensely bigger than the width of the eye, is called telecanthus (tele= Greek τηλε = far, and Greek ακανθα = thorn). This can be an ethnic index or an indication for hypertelorism or hypotelorism, if it is combined with abnormal relation to the interpupillary distance (A D STEAS).

Traumatic Telecanthus refers to telcanthus resulting from traumatic injury to the nasal-orbital-ethmoid (NOE) complex. The diagnosis of traumatic telecanthus requires a measurement in excess of those normative values. The pathology can be either unilateral or bilateral, with the former more difficult to measure

AND ....  "narrow palpable fissures in the horizontal plane"  I know fissures means cracks....

I'm not sure if that's in reference to his nose or what.....    I'm just.....  ::: sigh :::

And now, instead of RSS, it's "Undiagnosed genetic bio-medical diagnosis to account for Nathan's congenital anomalies and developmental delay." 

And then on the page below, the thing that jumped out at me was "for exclusion of a congenital disorder of glycosylation of both N and O subtypes"

And there was talk of UPD which is Uniparental Disomy - which means that instead of getting DNA info from both parents - for an arm or what not of a chromosome, or some part of the DNA, the information for both sides came from ONE parent.  So instead of getting info from Dad and Mom, it is Mom and Mom or Dad and Dad.

There is a whole list of UPD's  ...  one of which IS Russell Silver Syndrome.


Noah's appointment didn't go the same way.  At least his diagnosis is solid.

There were a couple of things though ....  

Noticed "Pectus Excavatum" and thought - well - what the heck is that?  Makes sense once I found out what it was... it means the chest is con-caved in a bit

This is how they fix it.....

Another thing I didn't know what it meant was the "pes planus" which just means flatfoot(ed) which that I knew.

And the "acanthosis nigricans" which we talked about at the appointment, it's the darkening of the skin around - like the neck area - and is often a sign of pre-diabetes.  I have tried to scrub this off his neck but it doesn't go away.  :/  Scary.

"At this time I think it is reasonable to continue to attribute most of the symptoms and signs to Noah's Mosaic Trisomy 16" ... including his muscle issues.  He has strength - but his muscles wear out and weaken up very easy.  We've been trying to figure out what all could cause these muscle issues - can't figure it out - and Dr. G said ... basically, when Noah was conceived, of course his cells didn't reproduce correctly, and that includes his brain.  So his brain is wired differently and he thinks Noah's brain and muscles can't communicate well - so it's a neurological thing.

He also basically said that Noah wouldn't ever be able to live by himself.  I'm not 100% sure I agree with that, but I do know it's a huge possibility and we (DB and I) have already talked to the older boys about needing to be there and take care of their brothers.  Kaedyn is a little young to have that conversation with.  But still - to actually hear it - out loud - it's like BAM.... punch to the gut.

It doesn't MATTER that I have this knowledge already in my brain, that I have said it myself - and discussed it as a family.  It's like the Autism diagnosis.  I had speculation that Noah was on the spectrum all his life but was so on the fence - I'd be sure one day, and sure he didn't the next - that I didn't pursue it until recently.  Nathan I always knew was on the spectrum from the time he was 18 months old.  But when you actually HEAR - "your child has autism" it's like a punch to the gut, and a kick to the head.   Because - weirdly enough - when it finally comes down to hearing - yes - yes it's true - you start to think how everything is different now.  When - really - nothing is different.  They are still my kids.  I still love every ounce of them and wouldn't change them for the world.  But I have to carry the knowledge that ...  Noah and Nathan may never find love, or have kids, be parents, they might never be able to live by themselves....  and that's NOT just because of the autism but their separate medical issues, together, as a whole.  You see people with autism lead very good successful lives.  I'm not blaming that on the autism.  But it does weigh in.  KWIM?

My kids are druggies .....  this is their basket of what they hit on an almost daily basis.

 The first pic is of the boys nightly meds.  Nathan's is in the pink one, Kaedyn is in the green one.  Nathan has more pills than Kaedyn.... I think ... let me think a second.  Okay - so he has 5 pills and 2 half pills, so that's 6 right?   Tech.  Kaedyn takes six.  Nathan's is still MORE .. bigger pills.  And I have to grind it all up .....   and you like my notes in the med basket, one is when his G-Tube was changed, one is the last time I opened a new extension ... and one is what liquid meds he gets.

Liquid meds and crushed pills - ready to go in the G-Tube.....

I wasn't going to ask but I would be awful grateful for any prayers, positive thoughts, whatever you believe in sent Nathan's way. He hasn't been feeling well all week... he's been in a lot of pain (teething, migraine, ear pain) .... he's been vomiting off and on for the past 48 hours. Tonight we noticed that his right scrotum/testicle is very red and swollen again. His actual testicle is very large which is not normal - it's never been swollen to the size it is right now This is what landed him in the hospital in May (however we believe the sepsis was actually caused by an antibiotic he was on - but that is just an educated guess at this point.) .... He is NOT running a fever right now - which is going to be the tipping point. We know that if we take him in, we'll be sent to Seattle for them to evaluate him, and last time the only thing that held them off from hospitalizing him last time was the fact he didn't have a fever. So we know that THAT is the tipping point. He says it's sore, and it hurts, and we're keeping a close eye on it and taking progression pictures that will only be shown to the doctors. I ask that this is just a set back, something he fights off himself. This is the same testicle that was caught up by his hip until about a year ago and we were told could become cancerous. Suddenly he has all these problems with it. Just hope this is becoming a new "normal" for him and nothing else. It's scary though.

His Epididymitis is back.  I can't show pictures ...  but he's really swollen.  REALLY swollen tonight.   

This is basically what is going on .... 

This is starting to become a chronic thing :(  

I'm getting crafty! And some updates!

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A couple days ago, Nathan was NOT feeling well.....  

We piled blankets and comforters and sleeping bags and everything we could find on the side of the bed and then put his little couch thing that turns into a bed on top of that (because that's what he always sleeps on) ...  and this way we can keep an eye on him.  He still has pain and obviously he still isn't feeling well off and on ...  

And seriously .... these two kill me.  They are SO CLOSE......  It kills me how cute they are and how they might not have been born together, but they are my twins...

 Today Nathan got fitted for his new Sure Steps!   Noah got his brace (AFO) adjusted to his new shoes too!

No more pink!  His favorite color went from pink, to blue, and now it's red....  and of course DINOSAURS is the only way to go...  

Then we had to head to Tacoma to Mary Bridge for our follow ups with Neurology and Endocrinology ...

His Neuro appointment went well.  Everything is going well with managing his migraines right now and he hasn't had any new seizure activity (and since he's been in our room the past bit this is good so we can keep an eye on that too) ...     Nathan was having fun making the wheel spin with his feet.

Dear Mary Bridge, When your book shelf is empty .... my child thinks he needs to be a book.....   plus, it's sad.  It's very sad.   Please fill it with some books.   Thank you.

His Endo appt went okay too.   Hasn't been on HGH for MONTHS now because of insurance switch and then pharmacy switch and then insurance not covering the meds he was on switch ...... any other kind of switch we'd like to put out there?   So we think it is all figured out and should FINALLY start up again ... soon....

 So I ordered pads, and they aren't going to get here for awhile.  BOO........  A friend of the family made some flannel pads...... They turned out AWESOME ........

But they don't absorb well.   :(   BOO!    So I had some old cloth diapers I used as burp rags with the kids.   So I cut some circles out of that.

First pad I made.  I hand sew - I don't have a sewing machine ... so ...   This was done quickly, not perfectly ....  I just wanted to see how one would do, absorb and all that....  

And I made a little "clothes line" for drying after I hand wash them!  Ha ...  

Quick Update

.Nathan's Surgery went well ...

First off ...... we didn't have to be to the hospital until noon .... we got here early ...  but ....  Nathan slept in the car.  Of course we got the "I'm HAWNGRY" ... lol...   It feels terrible telling a kid who has so much trouble gaining weight he can't eat... but he can't eat.... so he slept instead.....

Nathan didn't want his picture taken before surgery so Liam photobombed ....

So the surgeon came and talked to us and said that the surgery went well that the only issue was that his large intestines were swollen (and then he said "gassy") ... and he had to make an extra incision in order to move them so he could see...  but everything went well.  That he didn't want the tube used for 1 to 2 weeks...

They called me back into recovery because they just weren't sure what he was trying to say or if he was in pain or what....  

Anyway - I wanted to update that he's out of surgery and that he's okay.   I will update when I can but it maybe a few days to really get the good blogs up from his hospital stay and all that .... so bare with me.  I'm alone at the hospital with him.

Also, we have a fund raiser going for the boys - PLEASE check it out.  Please share it on ANY social media you have, even that simple act will help spread the word!!    http://www.gofundme.com/4t7h6c   <--- just copy and share that link!

Noah gets fitted for his leg braces ...

Noah is getting NIGHT BRACES for both feet to help stretch out his tendons ... he is STILL walking on his tip toes and his muscle issues in his legs are rotten.  He has been complaining more and more about the pain in his legs.  We think *some* of it is growing pains, but the rest .... his every day normal everyday pain.  He has such a hard time, it breaks my heart sometimes.  His right foot is worse than the left, I guess... so he's getting a brace for just his right foot.  He's getting a DAFO 2.   Unlike Nathan's Sure Steps, Noah's has a hinge on it.  He had to be casted for it ....  which - he thought was a pretty cool process.  

These are the various colors and patterns he picked for the various parts.  Blue velcro, flame design for the velcro, red padding, and skull design for the whole thing.

 After that was all done he got his night time braces for both feet.

After we went and ran some errands, and he actually let me do this to him.  Hee hee....

Pssssssssssssst ... does the sign make him the Energizer Bunny?

** UPDATE ** May, June & July

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Here is the long awaited update on the boys ..........

Calahan got his eyes checked out in May.  He needs reading glasses, but he has for years now.  He could go without them, it's a mild prescription.  Much like mine.

Calahan had his first date with his girlfriend :)   Even though they have been dating for about 2 1/2 years.

They went to see Fast 6 at the theater and then we went over to my mom's for a BBQ ...

He's growing up so fast, it's hard to believe in 6 months he'll be 18.   We'll be taking his Senior pictures soon!!

He's such a handsome guy :)

Nathan and Noah at the Ped's office - Noah is NOT happy ...  

Noah  is never happy going to the DR ...  but this day, he was exceptionally grouchy...  LOL.   Noah has a habit of not telling the whole *truth* when he's at the DR.   About what hurts or what's going on.  He'll say he's fine.  He hates the DRs and it causes him a ton of anxiety.

Noah at the doctors 

I had the shock of my life the day of their Ped Well Child....  Noah had gained weight, and height - which is a great thing!  Trust me I'm not complaining about that.   I have also, over the past few months, noticed stretch marks, and he's gotten a little mustache, and a tiny amount of under arm hair....   but when the DR pulled his pants down to check his boy parts, I was NOT expecting what I saw.  I was one of those cartoons with the mouth hanging open.  The other child (who won't be named, but he's older) ... itched and itched and itched, so we knew he was changing, but Noah's never complained.  It was bizarre.  I knew he had started puberty, thought it was too early but according to the experts blah blah blah .. its normal.   What the F*** do they know?  

Now normally I wouldn't talk about that stuff, but ...... I have one of those Mommy moments you want to rewind and take back.   Still reeling from shock, when we got home...  I marched Noah into the kitchen were Dennis was and proceeded to try to pull down Noah's pants to show Dennis do something really embarrassing, and Noah squealed with embarrassment and I snapped out of my shock.  It was a - WHAT THE HELL WERE YOU THINKING - moment.   I wasn't thinking, I was in shock.  My 1lb 12oz preemie has HAIR down THERE.  Rewind.  Walk in the door.  "Hey Honey, we're home ....... GUESS WHAT!!!   It's confirmed, Noah's started puberty."  Walks into bedroom.  Yep, that's how it should have went.  

Dumb Mom.......

So ... let's see, what was next.....

Beginning of June we went to Seattle for Noah's Nephrology appointment. If you don't know what Nephrology is... it's the kidney Dr.   So we had a check up with him and Noah's still pretty stable.  They did some blood work but it seems it turned out all good since I haven't heard anything otherwise.  We all went that day ......

After that appointment we went to what we thought was going to be an Orthodontist appointment, but all it was - was another pediatric dentist.  We already have one of those.  She told us the only way to get orthodontics covered by insurance was through Cranial Facial   ...  Now, Noah use to see Cranial Facial   in WI and I dropped the ball on that specialty when we moved here.  So we got a referral to the one that is at Seattle Children's (that Nathan sees) ...  so I'm hoping maybe there is a chance, but I doubt it.  I'm not holding out any hope on that so we're trying to raise money for it.

So ...  Noah's oral surgery was scheduled for the end of June and the dentist we saw above made me feel as if the only way to get Noah Orthodontics was if we went through them and saw the surgeon that she wanted to do the oral surgery, because she was the one who did the orthodontics through Cranial Facial  ... but our local Pediatric Dentist, whom we know and love - had already scheduled the surgery ...  so we decided to go ahead and do the surgery.  So in late June we went in... it was Nathan's last day of school.  I got Nate in the van and Dennis called my cell and asked if I left yet, cuz they called to see if we could come in early.  So Noah came out, we dropped Nathan off, and then I took Noah to the dentist.  She did the surgery right at her office.  So she came out and told me they pulled 17 baby teeth out of his mouth.  You have 20 baby teeth that you lose between (normally) 6 and 12.  He had lost only 3, and those were always a pain to get out, they were loose forever - not for lack of trying, they just didn't want to fall out.  Much like the rest of his baby teeth.  But all his adult teeth were coming in around or behind the baby teeth ...  Noah had three rows of teeth ...his baby teeth in front, the front two adult teeth behind those, and then the two teeth that are suppose to be beside the front to teeth behind the adult front teeth ... on both his upper and lower jaws.  He has an incredibly small jaw. She also fixed a couple cavities he had - no more No Cavities Club for him.

So yeah....   he came home with 17 teeth in a bag, and 12 teeth in his mouth ...

He is still struggling with eating stuff.  Most of his adult teeth are coming up all at once now that the baby teeth are out of the way.  

Also Noah saw Orthopedics about his legs.  Now, Orthopedics says it's not an Ortho issue, and sent us to a Rheumatoid Arthritis doctor.... we just saw him, and he says - that he doesn't *think* he has it.  Even if it makes sense with his symptoms he doesn't have the wear and tear that would come with having it all his life untreated.  He's not saying he absolutely doesn't - but he says because he came in symptom free, and from what he saw, he doesn't think he has JRA...   so we still don't know why Noah's legs are in pain all the time.

Nathan has officially graduated Kindergarten!

 He was so proud :)

So in May, Nathan had another appointment with Dr. G in Urology, Dr. B's colleague whom trained under him, and hes going to be the one handling Nathan's hypospadious/undecended testicle surgery.  We liked him enough, still like Dr. B better but he's not doing surgeries at the hospital anymore and since Nathan will be staying in the hospital, it has to be done at the hospital.  Dr. B promised we were in good hands though.  Dr. B did his last surgery (2nd one) and the first one was done in Wisconsin.  This will be his 3rd surgery, and even this may not be the last.   They are going to be taking some skin from inside his cheek to put around his urethra to try to bring it to the tip of his penis since it's still on the underside.

Nathan absolutely LOVES the dyson hand dryers..... he will keep using them over and over and over and over...  LOL....  and he laughs when he's doing it...  

Nathan's self portrait drawn on one of the dry erase boards at the DR.  He's a happy mutant cyclopes... but at least he's smiling! 

Then we saw Dr. P (ENT) and we talked about his surgery ... and he wanted to look at Nathan's ears.  He said ... his left ear is con-caved in right now with the tube out.  He talked about taking his tonsils and adenoids out...  and they were going to try to schedule both surgeries together.  But he forgot about the talking about taking the tonsils and adenoids out.  So we had to go back to see him to talk about that again.  @@  LOL...   it is what it is, right?   So got that all squared away, and he decided to NOT take out his adenoids.  So hes going to get tubes and then his tonsils and because of his fragility - he'll be staying over night for that too.  :/

Because, after waiting a month and a half, FINALLY got a call with a date and found out they couldn't schedule them together.  I know that Dr. P wanted it done ASAP because of the way its affecting him.   So I just had them schedule them separately....  his Urology one will be August 2nd (next week, er, a week from tomorrow) and the ENT one will be September 3rd.  

So in other news, one hot afternoon when moods were boiling, Nathan pissed off Kaedyn somehow (really, its not that hard) and Kaedyn picked up a full 2 liter bottle of soda (Mt. Dew to be specific) ... and THREW IT AT NATHAN hitting him in the head.  He came crying and screaming and blood GUSHING out of his nose ..  (I have pictures of the massacre but I won't share, cuz it looks like someone was murdered.)  Anyway - I knew he probably broke his nose, but it wasn't obvious like Noah's had been when he broke his in Aug. 2011.  So we took him to see the same DR.  Noah had seen when he broke his.  Anyway, it was a process.  We didn't take him in the night it happened because we took Noah to the ER with an OBVIOUS break, and they hemmed and hawed over if it was broken or not, they TOLD Dennis it wasn't but then send them home with paperwork that said it was!  Regardless, Noah saw the local ENT the following day and he said it was absolutely broken.  So - we felt it was pointless if they couldn't tell that Noah's broken nose was broken, Nathan's wasn't obvious - so they'd say it wasn't.  So the day after it happened, he woke up with brusing in the corner of his eyes by his nose, and across the bridge of his nose.   We took him into the Ped to get the referral to the ENT, and had to stop for x-rays in between.

The verdict.  Hair-line Fracture.  It would heal in 6 to 8 weeks.

Nathan has also been having a lot of asthmatic coughing spells so we've increased his nebby treatments.  He is really good now for them though, sits there like a champ!

This is Nate and Kaedyn playing one hot day under the A/C in the master bedroom ...  it's a one room A/C.  They kept themselves occupied with their Leap pads.  

Eating a snack after therapy one day.  Nathan still had therapy so ... Nathan was HAWNGRY so we got a snack.  Got Noah some too for after his therapy.

This was BRIBERY ..  I found this at Goodwill and it was only a couple dollars, Nathan LOVES Angry Birds.  So this was bribery to put on short sleeves because he just won't.   So - it obviously worked!  Once he's in them and he's not throwing a fit, he's okay.  It's putting it on and fit ensues....  

This is another day at Seattle Children's with the Dyson Hand Dryers ....  LOL

 They make him so happy!

Nathan got his Sure Steps that he was fitted for w/ the last update.  He actually enjoys wearing them.  They said socks on the inside, and always have shoes on, well, that's easy for them to say.  Nathan is mostly inside and he doesn't wear shoes inside, he barely wears socks....  so we put socks on the inside after Mommy got to see them on his (bare) feet and put slippers on, that works.... right?   We also figured we could just put socks on the outside too if he wanted that ...  that way, not so slippery ...   hospital socks!  Or socks with treads on the bottom....   note to self, steal many hospital socks while in the hospital ....  and get socks with threads....

 He did have some redness after wearing them for awhile....

Nothing makes me happier then those moments where Nathan is giving me those true smiles.  Like this.  Not the smiles to appease me ... the ones where I have to say "Look at Mom" a hundred times and "Smile" fifty.   No - this is a spontaneous smile...   this is the best smile EVER ...

He got to go bare back riding at our friend Lisa's one day recently ...   he didn't like bare back riding much...

But he had a BLAST leading De around.  And just look at that picture.  He is a 6 year old little boy who is the size of a two year old, leading a horse around.   WOW right?

We got Nathan's new ear pieces for his hearing aids today.  This is what he picked up....

Kaedyn got signed up for his THIRD year of Pre-school.   This bummed me out soooooo much.  Kaedyn is totally 100% ready for Kindergarten - first kid who is very clearly ready.  But he missed the cut off by EIGHT DAYS!!!!   Ugh....  the cut off is Sept. 1 and his b-day is Sept. 9.   Yep, 8 days....

Kaedyn went back to the eye doctor and got a new pair of glasses, a little weaker prescription ... he went with Daddy and picked out his own glasses and was much more open and not as shy during the whole process so it worked much better...  Here is my handsome guy with his new glasses.

At the end of school they sent home a whole bunch of artwork......

And here he is with this end of the year diploma

He also drew his first self portrait for me .......

I always knew he was a box head.  Wait........ since he's a mini-me, does that mean I'm a square head?

For a little treat, here is Nathan, Kaedyn and Mickey Mouse at Seattle Childrens ...

And one last thing, we have some new furries in our family right now.  Our Cat, Autumn, had kittens.  She had five - one had severe Spina Bifida ... she lasted over 24 hours, and then Cupid, was a white kitten with only an orange tail and an orange heart on the back of his head ...  he died of Kitten Vanishing Syndrome which is pretty much Failure to Thrive.  We tried to save him ...  it was really sad.

Marnie is our kitten herder ...  she literally runs around them keeping them on the bed... it's funny.   The kitten names,  Rex is the Orange one climbing on Marnie.  Abby is the one that she's "hugging" and Boo is the black and white Persian ...  we lubs them.   Originally we weren't going to keep any but we had to put our cat Mia to sleep.  So ...  yeah.  There went that theory.

And I think that's it for this update!!  Next will be some entries from the hospital for the first surgery, I'm sure....