Tuesday, July 28, 2015

Don't Scare Me Like That

So prior to the actual day starting, Nathan did a fasting blood sugar of 151.  I called the DR to let them know what the fasting was.  Then I called Endocrinology just to let them know what was going on and to see if they had run an A1C during his last routine blood tests.  And they hadn't.....   now I'll start sharing FB Statuses from the day too....

FACEBOOK UPDATE: Now Nathan might have diabetes...Okay so his boy bits have been swollen again...Did a pee dip on him yesterday morning....Ketones were abnormal...So I did a non-fasting blood sugar on him....It was 252 yesterday...This morning's fasting bs was 151...Called his DR who he saw yesterday, he said just keep an eye on him, I called his endocrinologist to let them know what is going on...Endocrine called back, told them the story, they said they would call back, the doc called back (not the nurse) and she wants me to feed him something high in carbs and sugars and do his bs 1 hour after..If it's over 200 he might be admitted for a few days...Or we may just do a diabetes thing in the clinic on Thursday

FACEBOOK UPDATE: How much more can this kid take? I am really angry at the world right now, I may put a smile on my face and try to pretend I am calm but I am fuming inside. We are on our way to the ER in Tacoma right now (that is where his endocrinologist is) ... Nathan had some ketones yesterday that prompted my doing his blood sugar which was 252, his fasting was 151 this morning. Doc wanted us to give him a high carb, high sugar meal to see what his body did. His BS was 105 prior to the meal. Thought maybe it was a fluke. He ate 1/4 a sandwich with meat and cheese, had a few sips of Dr Pepper, and some apple. His blood sugar was 453. Yep. Hello admittance anyone? To top it all off, we have NO money until Friday. No way to eat. Oh well.

We did another pee strip on him before leaving, and it was pretty much normal.  Maybe some white blood cells spilling.  His Ketones might be a tiny amount elevated, it's not really the neg color and it's not really the +small color.
The Mountain was out today....  huge and glorious.

FACEBOOK UPDATE: We are at the ER now, been here about hour and a half or so ... Talked to the Nurse, talked to the DR, repeated the story 10 times or so for various people.... Nathan doesn't feel sick, so the thought of an IV sent him over the edge, and he had a major kicking and screaming melt down. He was yelling for DB to "put me down" and it killed me, broke my heart, I almost started crying. I am praying that our tests were all wrong and this isn't true, that this isn't a reality ... I want this NOT TO BE TRUE so bad.... so we finally got him to do his breathing for the IV, she got it placed, but it was a hard placement and she managed to get blood out of it before it blew up like a tiny little balloon. Right now he's escaping into the land of youtube on my phone. It's about all I can do for him right now to help him. DB and I are so very much on edge right now. We just want them to come in and say the jokes on us and we can go home.

We were put in this room, with the Octopus on the door.  He had an Octopus on his shirt too! LOL

FACEBOOK UPDATE: We are at the ER now, been here about hour and a half or so ... Talked to the Nurse, talked to the DR, repeated the story 10 times or so for various people.... Nathan doesn't feel sick, so the thought of an IV sent him over the edge, and he had a major kicking and screaming melt down. He was yelling for DB to "put me down" and it killed me, broke my heart, I almost started crying. I am praying that our tests were all wrong and this isn't true, that this isn't a reality ... I want this NOT TO BE TRUE so bad.... so we finally got him to do his breathing for the IV, she got it placed, but it was a hard placement and she managed to get blood out of it before it blew up like a tiny little balloon. Right now he's escaping into the land of youtube on my phone. It's about all I can do for him right now to help him. DB and I are so very much on edge right now. We just want them to come in and say the jokes on us and we can go home.


Child Life brought in an iPad for him to watch while they were trying to place the IV ...  then they let him watch it for a little bit....  and they took it away.  LOL.  So he ended up watching Youtube on my phone.


FACEBOOK UPDATE: Thank the STARS we're going home! Tests showed absolutely no signs of diabetes!!! Whew. This is definitely one thing we didn't want him to have. She said "maybe the meter was off?" Maybe - but Dennis took his blood sugar right after Nathan's and it was fine. But WHEW... WHEW... WHEW!

He was totally mesmerized by this bubble wall.  This is in the waiting room of the ER in Tacoma.  Could have watched that all night probably!  I did a video of it too.  That'll be up on our Youtube Channel soon.


Finally headed home.  Goodbye Tacoma...  hello Peninsula!

Got home, we had lasagna, and we all went to bed.  Oye.    Exhausted.

Saturday, July 25, 2015

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 :(  

Thursday, July 16, 2015

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.