Genetics Appt. No RSS & Diabetes?

Made it to the Genetic's appt.  We haven't seen them in 2 years.  Last time we saw them, they said 2 years unless something changed.  I made a 1 year appointment anyway - and ended up canceling it.  Then I made one earlier this year, and ended up missing it because someone was sick.  So I'm glad that we made it today.

Here is Nathan and Noah in the waiting room.

So the appointment went well - and wasn't EXACTLY what I had expected.

So Noah went first.  Dr. G was rather impressed with him and his progress.   He says that Noah's muscle issues are due to his MT16 because his brain wasn't formed right in utero - it formed different - and because of that his brain isn't communicating with his muscles correctly.  So this is something that he's going to have to deal with for the rest of his life.  He also said that Noah will have to be dependent on someone for the rest of his life - which I hope that isn't true, but it's something that we've been planning on anyway.  Noah is still small for his age.  He was 91 lbs and 59 inches.  Looking at the chart online - I think he's around 15% on the chart for his age for weight. And about 11% for height.

Using this Children's Growth Chart Percentiles Calculator - this is what it told me.

At 13 years and 5 months:

your child is 91 pounds, and that is
at the 20th percentile for weight.

your child is 59 inches, and that is
at the 11st percentile for height

Back to the muscle issue, he says he's doing really well with what he's got and was rather surprised with how much strength he can put out there.  He was impressed with the homeschooling and the progress he's made in the last couple years.  Even though he is still unbelievably behind, we are making progress.  Slow and Steady.

The other thing we had to discuss was Noah's "dirty neck syndrome"  ....  he has this perpetual dirty neck and no matter how much I scrub, I can't get it off - I keep nagging him about it.  Turns out it's a syndrome that can point to pre-diabetes.  It's common in obese kids (people) and those who are pre-diabetic or diabetic.  We checked Noah's sugar today and it was 163 - all he had to drink was one can of 7up and he had a tiny piece of cheese.  That was it.  He didn't really eat until after we got home.  So we're going to check it again in the morning and see what his fasting is.  (Edit: It was 88 for a fasting.  Which is great!!)

Nathan ........ oh Nathan.   So one of the first things he said was "I'm not sure about the Russell Silver Syndrome diagnosis."  ::: smacks my head :::  Really?  REALLY?   This again.  Nathan was diagnosed with RSS in April 2010, it was a clinical diagnosis which most RSS diagnoses are.  I think only about 10% (give or take) are actually genetically confirmed.  Basically - Nathan was diagnosed RSS because he fit the criteria.  But he's never been fully absolutely A-Typical RSS.  So a lot of doctors have made comments about how he doesn't have RSS and they are going to figure out the mystery of Nathan.  Which annoys the piss out of me.  But I guess when it's coming from the Genetic's Doc - who previously agreed with the RSS diagnosis - then I can't be mad.

He says he has some of the facial things, and other physical "symptoms" ... but he doesn't fit well in the RSS box.  That his brain issues are a major concern pointing away from RSS, and all of his speech issues.  So ...  he's thinking it's got to be something else.  It's definitely genetic, but he can't put his finger on anything in particular.    He's doing a carbohydrate deficient transferrin for congenital disorder of glycosylation.  He's also banking DNA and going for a pre-authorization for a Chromosome SNP array analysis.  Which is the newest and greatest in chromosome testing.  He kept calling the tests Nathan had in 2010 as "old fashioned" lol.  I'm like, geez, it wasn't that long ago.   But Dr. G seems pretty confident that it's not RSS now.  So I'm really confused.

Nathan was 42 lbs 44 inches.  He's not even on the charts for his age.  Roger and Dr. G were saying that he's about 50% tile for weight and height for a 5 1/2 year old.   Oye.

Using this Children's Growth Chart Percentiles Calculator - this is what it told me.

At 8 years and 3 months:

your child is 42 pounds, and that is
at less than the 3rd percentile for weight.

your child is 44 inches, and that is
at less than the 3rd percentile for height.

He kept calling me a great mother and that I was doing an amazing job with them.  Makes me feel good.

So here is Noah's Neck.

I guess it's called ACANTHOSIS NIGRICANS ....

I did a home PEE Dip on him tonight too.   He's spilling a TON of blood at the moment.  (He has kidney issues) ...   his Kidney Doc told me that it's not so much the blood - it's more the protein we have to keep an eye on.

His pH was off, Glucose and Ketones and White Blood cells (Leukocytes) were all good ...  Protein was Neg to Trace ...  and his blood in the urine was off the charts.  LOL.   I'm going to have him repeat it tomorrow too.  See how it is.

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 ...  

Update *Nathan*

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First I want to say that Nathan just turned FIVE!!!  I had a little walk down memory lane in my main blog, and had to post all about his birthday!!  So go check those out if you are interested :)

As for medical updates......  what kind of doctor HASN'T he been to lately .... oh I know one...  Gynecology! 

On that note - we'll start the updates.......

First he had a visit with his autism doctor - who sometimes - annoys me.  Because Nathan will play with toys and has an imagination - he thinks that he will eventually "grow out of" the PDD-NOS diagnosis.  Because he was playing with the big duplo type blocks and making the Mommy & Daddy go to Mars in the rocket ship he built.  How do I know this - yes and no questions.  He was having a good day when we were there.  He wasn't stuck in Angry Bird land, he was very interactive ...  it was a good day.  Because of that, it's in his Doc's head now that he may not *really* have autism, just autistic tendencies ...  he said he wants to push the speech therapy ...  which I think it pointless and just another thing to add to my already over-filled schedule.  When I get a chance to talk to his speech therapist at his preschool whom I really like and respect, and ask her about it - then I might consider it.  Nathan has more speech issues than just "autism" stuff.  I think Nathan is more in the Asperger spectrum than PDD-NOS - he is super smart and if he could talk, I think he would be having some very interesting conversations - however - his speech issues have more do with medical stuff ... which I'll get to later.  My mom went to this appointment - and she's gone to several appointments with me... and when Nathan gets into his moods ("autistic tendencies") which is a lot of the time.... most the time..... I say "and Dr. H says he may not have autism" and she laughs .  She thinks that he should just sit and actually observe him for more than 15 minutes with toys he hasn't played with before.

Beginning of April he meet with his Cleft Palate team ....  this consists of .... well a lot of people.

and Magenta ....... can't forget about Magenta ...

First we saw the Speech Lady - the same one we saw last time.  If you recall .... HERE .... I wasn't all that impressed with her.  Nathan wasn't cooperating with her - I had to do stuff to get him to say anything - and the words that he says that are really good "Momma" "Bubble" "Purple" are his most used words that he's been working on for years.  Momma is a given .... Bubble... he looooooooooves bubbles.... and purple is his favorite color (other than pink) ...   so because he could say BUBBLE and PURPLE she said that he wasn't losing air when he talked due to his cleft ... (Cuz his speech therapist at school called me up to address that specifically) ... this lady just wouldn't listen to me.  So this time.... I just had this..... attitude.  I figured she wasn't going to listen to me again - but this time.... was a little different.  I told her again .. "Listen, Nathan's Speech therapist at school says he's losing air when he talks." and she's all "well we addressed that last time and honestly I have found that speech therapists who work with kids in a school setting hear 'cleft palate' and just start saying that." ...   So I was like .... really??  REALLY???  She's just going to say that these people don't know what they are talking about???   That's just not cool.  So last time she said Nathan had Dyspraxia ... so .... she gets him to work with her this time.... and he says Bubble and Purple again and she says "because he can do the Bah and Pah sounds he can push that air or sound out of his mouth - he's not losing air."  She's working with him some more, he's repeating words ... blah blah blah .... then she pulls out this stethoscope looking thing with the tip of a booger squishier (nasal aspirator) on it.  So she puts the ends in his ears and she has my mom and me say words to show him it's okay and then does it to him.   He says the words and she sits back and says ....  "He's losing air through his nose" ......

SLAPS FOREHEAD ........

DUH!!!

She goes back and looks at her notes and goes "he definitely wasn't losing air last time" ... yes he was.  She A: didn't get close enough to hear and B: Didn't use that nose thingy and C: he wasn't cooperating with her.   YES HE WAS!

At least she admitted she made a mistake ... sorta.

So he has .... VeloPharyngeal Insufficiency - or VPI.  They gave me a paper on it ...  you can view it here.  That's the link the Seattle Children's thing on it - which is pretty much the paper they handed me.

So he definitely has that - as far as the dyspraxia - I don't know ....  in addition to the VPI they say his mouth is very uncoordinated ...  they want me to keep with the alternative communications appointment - and actually- his Speech Therapist and the OT (I think) said they wanted to go with to that appointment. There are a lot of different devices they can use for him.  He already has a communication book (linked his IEP blog when he recently got it) and some other things are in the like that I posted at the beginning of talking about the speech stuff (.... the I wasn't impressed with her....)  .... but what I am REALLY hoping for is an iPad with the ProLoQuo2Go app.  You can read more about that in THIS BLOG.

 So she wants him to work on sounds such as M, N, W, Y, L, R, H that he can work on.... and 2 syl words w/ same consonant.... 2 syllable words with different consonants...

Anyway .....  then we had a little bit of a lull....  so I kept commenting on Nathan's dimples and he was loooooooooooking for them.... 

 (Video of Nathan looking for his dimples)


The next appointment was Social Work.... she couldn't really help us out at all - we've got all the services we can - at the moment - so she can't really direct us to anything else.

Nathan just decided to start ignoring everyone at that point and play on his computer.

Nutrition came in next ..... I looooooooooooath nutritionists ....  MOST of them sit there and tell you everything that you've already been told or make you feel like you aren't feeding your child properly ...  we are doing everything we can, but you can't force a child to eat and you can't make them eat things that they just won't or makes them sick due to taste/texture ...

But this one was nice, and I like her - and I think we'll continue to see her.  And Dennis agreed!

So I outright told her ... this is what we're doing, this is what we've tried .. this is what he will eat, this is what he won't ... this is what we add to food he does to bump up calories ... this is how much Pediasure he drinks....  we offer him the same foods we do our other kids and his little brother is bigger than him and actually we're being told he needs a little baby diet by one pediatrician ...  etc and so on .... and she says "It sounds to me like you are very knowledgeable and doing everything you can to encourage him to eat."

She is going to help us get Pediasure through the insurance since WIC won't be picking it up anymore.  Once he's 5 - he gets kicked out of WIC ... and so we have to find another way to get it. 

By the time the main doctors came in ....  Nathan was D-O-N-E ...... and thankfully, neither of them made us wake him up.

Dr.P - the ENT - came in and talked to us.  He said there was no doubt he needed the surgery to correct his cleft palate (V.P.I) ... that his biggest concern moving forward would be Nathan regressing and not being able to get him to eat after the surgery.

Dr. C came in and was telling us about the surgery (he's the one who will actually do it) and how he's planning on first putting another pair of tubes in his ears ... and then he'll start to correct the cleft.  He's going to fold over something from one side to create resistance on one side, and pull down some muscle from his nose to create resistance from the other side. 

We were telling DR. P and DR. C how when Nathan eats pasta - he gets it up his nose.  Everything gets up his nose :/    So they were talking about how they may have to go in and put a bump in the back of his throat (to keep stuff out of his nose) ...  and how they hope he won't need it and this will solve it - so they aren't going to do that until they have to.

We talked about how that might be part of Nathan's problem eating things....  he has no resistance at the roof of his mouth and when stuff pushes against it - it's got to hurt :/  so those foods that hurt, he doesn't want to eat......

Oh, right ...  he said they were going to sew up his uvula also ...  so he won't have bifid uvula anymore. 

Funny thing - Dr. P was the one who wanted to solve the mystery of Nathan (not believing the RSS diagnosis) ...  and he took one look at him this time and agreed he has RSS ....  dur.....

Craniofacial clinic is always a long day - so we were happy to get on the road home!

After that he had Neurology appointment ... I mean a different day of course - not the same day ...  and that went well.  Mainly - he's happy that the migraine meds are working and didn't say to much else.  At least ...  not that I remember ....  if I remember - I might have to come back and add.  Cuz - I'm totally drawing a blank.

Ooooooh I remember .... I did ask him if his speech issues could have anything to do with his brain malformations .... (missing vermus & polymicrogyria) ...  and he said he thought it most likely had more to do with his Russell Silver Syndrome more than anything.  

Next appointment we went too (this week actually) ... was Endocrinology ... his growth doc!  He still isn't anywhere near being "on the charts" .... but he did grow - a little.  A couple months ago, after all this started happening with Dennis - he started having major anxiety issues with his shots.  So we stopped them.  Was it really worth all the calories he burned throwing this massive fit and having this horrible anxiety???  So I just wanted to stop until we could get in and talk to her.  And she helped.  Giving your child shots is hard :/  no parent wants to do it.....   but I am the one who fought for the HGH shots anyway :/   So .... I told her what was going on, why we stopped ... she said it was okay.  She explained to me that with Nathan's thyroid meds his thyroid is normal - YAY ....  but with his last labs (last fall) his growth hormone was .6something ... and normal.  But with this last lab he did - it was .3something and that was low.  So he definitely has a growth hormone deficiency  ... and he really does NEED the shots.   So she had a child life specialist come in and talk to us, try to give me some tips for him - for me - for the whole process ....  she gave him hospital kids for him, Kaedyn and Noah.... and so they all have dolls with gowns and have bags of bandaids, a "shot" ... and various other stuff....

He did grow, just not well.   And he seemed to have gained the weight he lost from being sick with the bad virus he had - back!  YAY!!  He finally got over the 25lb hurdle and was 26lbs ... and when he got sick, he went back down to 24 :(   So he was back up to 26!!  YAY!!! 

So when we got home we drew faces on the hospital babies....

 Noah and his (he wanted blue eyes)

 Nathan and his..... 

 Kaedyn and his .... at first he said "blue eyes" but then he changed it (after I already did one) and said "noooooooo GREEN EYES!!!" So they are blue-green eyes... lol.... 

 PAGING DR. NATHAN!!!!!

So that brings us to Wednesday ......  Nathan's last day of being FOUR YEARS OLD!!!  We were in Seattle for most the day for three appointments - two for Noah and one for Nathan........... lucky doctor of the day .... Urology!!

running off some energy between appointments ... Noah, Nathan & Kaedyn.... 

Dr. B ...  we really like Dr. B ...  he has a son, himself, how has medical issues....  so it's always nice to have a doctor who understands.  Anyway ...... so the first thing out of his mouth when he exams Nathan is .. what a fantastic looking penis Nathan has (no lie) ... ha ha ... and told me that even though he put the urinary tract opening on the top of Nate's penis, after the cath came out and such it retracted to the point that it's coming out under his penis just below the head. So he wants to let Nathan's penis mature another year - and then if he's not peeing straight or what not (doesn't fix itself), then they are going to go back in and finish the job - taking it to the tip - but this is going to involve taking some skin from someplace (I think he said the inside of Nathan's cheek) .... to finish it. ALSO .... his right testicle (after his hernia surgery at 6 months, we think) got stuck up in his belly and wouldn't come back down. They tried to move it down with his first hypospadious (penis urinary tract correction) surgery and it failed because it went back up. So it has shriveled up and died - and is stuck in his belly .... so it will have to - at some point - be removed. I remember last time we talked about this he had said that it was because the body will attack it - eventually - and there is a very good chance it could turn cancerous or something... so in a year we'll know more about that.

So ..... two surgeries in the future.  Cleft Palate in the end of May (totally terrified about this) and another surgery on his poor poor penis sometime next year :/   Nothing really pressing coming up now....  his very last WIC appointment...  well child visit with his Ped....  visit with the dentist ..... and then on the 22nd of May is his Alternative Communications appointment, that same day he will see anesthesiology in preparation for his surgery on the 25th.    I'm scared .... I know it needs to be done though.  It really does.... 

I think that's it.  I'm sure I forgot something......... but I'm tired.  Ha ha .... 

That's right, he was PROBED!!

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For his 24 Hour Video EEG, Nathan was that is.  We showed up with all our stuff and we were escorted to a room.  The Children's Hospital part of Mary Bridge is lock tight, let me tell you.  No one gets in or out without the nurses knowing.

At first he was okay with being there....

Kaedyn was great as long as he knew it wasn't for him!

However, when it came time to get the probes on .. or BUTTONS as we called them .... he tried to take a run for it.

The lady drew these smiley faces on his hands to help ease the process a little ... 

Eventually he just sorta relaxed and went with the process ....

Kaedyn had fun occupying himself ....

tried to get Nathan distracted by reading a dinosaur book but he just wanted to hold it instead...

She let him hold the oxygen tube which they were using to "dry" the glue to hold the probes ... 

Kaedyn was balancing the ball on the edge of the bed.

Covering his eyes for the ones close to his face

The relief he has in his eyes when everyone says ALL DONE!

Then she connected all the wires ...

He got this amazing mesh hat, it's going to be the next big thing in fashion, let me tell you!

He was sporting a wire & mesh ponytail!

Here he is eating dinner ........ gotta love kids who love their veggies!!  Mine do!

Sleeping like the sweet angel he is....

Video of him sleeping & snoring .. lol...

The following day ...  he slept just fine that night.  I didn't, but he did.  He chowed down on his breakfast .. .

 When it came to leave (around noon) we stopped to look at the fun stuff in the room outside the elevators.  There was an animated dinosaur ... and we all know how much Nathan LOVES dinosaurs!  Here Nathan and Noah are checking it out ...

 The huge aquarium ...

 Nathan watching the dino ...

 His hair was all kinds of greasy and gunky after they got the probes out ... it had to do with the stuff they used to get them off... took me a few days to get it all out of his hair...

Still don't know the results, won't until we see the Neurologist in November...