December 2017 Update...

I know the blog is LONG overdue for a decent update.

This update will not be the full update that is needed though.  I haven't written up a GOOD update in almost two years now I think.

It's been a rough year.  Well, year and a half.   About 18 months ago we learned that our landlord at the house would not be renewing our lease.  She claimed that she needed the house to live in, but she rented it out again.  It was what it was though.

We couldn't find a place to take all 9 of us (at the time.)  We looked at several places we could have made work for all of us, but as soon as anyone found out how many of us there was, it was no...   We have been on a VA Housing list for awhile.  So we ended up moving from the house to camping out at  my Mom's.  Wasn't the best, but we made it work.

We came up on the housing list and managed to get a place, moved in on September 8th, the day before Bubba turned the big 9.  (He turned 9 on 9-9) ... LOL ...

I love this place.  LOVE IT.  It would be better if it had a bigger dining room and kitchen.  But I absolutely love it.  We all love it.  It's perfect for the six of us.

Cal is talking about moving out and moving in with his fiancee ...   she's back and forth here, which we don't mind.  Love seeing our granddaughters.  And our daughter in law.

Anyway .....

Mini Updates.. 

We'll start with Noah.

Noah is almost 16 years old.  I'm not sure what all I have mentioned lately.  He was diagnosed with Glaucoma now, and Aspergers, ADD & severe Anxiety ...  his kidneys are also getting worse.  I think they are relatively stable, but he's starting to spill more and more protein in his urine. He still spills a lot of blood when he is sick, too.  We keep a pretty good eye on it.

Also, he has pretty much stopped growing.  He's 5 foot even, and I'm happy he even hit that.   For a kid who wasn't supposed to live at ALL...

Big changes this year, he's been homeschooling for awhile ... like, since 4th grade, and he decided this year that he wanted to go the highschool and see what they had to offer.  So we did the next school day ...He's been attending since the day before Halloween and loving it. He's mostly in the Life Skills room when he is learning skills to be independent....

He went from being so tiny and not supposed to live to almost 16 years old!

Now a smallish update on Nathan. 

He is such a silly guy and soooooooooooo smart.  He might be non-verbal (or non-understandable 90% of the time) but he tries REALLY hard.  

He doesn't have any big new diagnoses but his hearing has gotten worse, he still refuses the hearing aids because they are "too loud" ...  he also went through the VPI clinic and his VPI isn't as bad as was thought, but it's definitely there.   He has to get another sleep study done and then we'll revisit if he should do surgery.  He also needs to get into a speech therapy consistently (He gets ST at school but the ST he was in outside of school was 6 weeks of therapy and then it was someone else's turn and you got put on the bottom of the waiting list again....)

Of course both he and Noah have significant muscle issues.  Neither of them can walk very long without getting really tired.  Noah will push through it, but Nathan gets so tired out so quickly it's hard.  And he still isn't really gaining weight... 

I am worried about him getting put on continuous feeds.  But if that's what's needed, that's what we'll do.  He is still just getting feeds in his g-tube at night.  

He also gets sick and loses weight quickly. He got taken off his HGH because they removed the diagnosis of Russell Silver Syndrome, they don't think he has that anymore.  They are absolutely certain that he has some sort of genetic issue, but they just haven't found it yet.  

He's doing really good in school .. this year is remarkably different and I think it's because his best friend Rylee is in his class helping him out again.  He adores her.  He's also on anxiety meds and he's not freaking out in the morning anymore, which is AMAZING. 

The most important thing is that he has been hospital stay free for TWO AND A HALF YEARS!!!  That's unheard of with him!  It's AMAZING!!!!!!! 

From 3lbs 4oz at birth to 10 and a half years old! 

That's about it for now until I can really sit down and write up the notes from their doctor appointments... 

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.

Facebook Signs ...

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I was talking to my girlfriend and telling her how I was annoyed with some people.  I would ask people who are my "friends" and "family" to go like our facebook page.  What is the big deal?  You go like a page, you get our various graphics we share on your page.  So much of it has to do with awareness for different things, or uplifting words - or news articles.  I share a lot of things from other pages, and then I save them and I post them in the albums on our facebook.  We have about 38 or so albums right now.  There are a bunch of different Autism albums, there is one for IEPs, Chromosome Abnormalities, Learning Disabilities, Inspirational Words, General "Special Needs," Bullying, Love Letters to Special Needs Parents, Premature Birth, Growth Issues, and a lot more things.  

So anyway - I share something - I ask for people to like the page....  hours later...  nothing.  Not even one like.  It's been like pulling teeth to get people to follow the page.  At first I just didn't care ...  but I really do want to help bring awareness to these medical issues.

So I ask people, and I message people on facebook ....  and still nothing.  But I see them share stuff of other peoples kids, that they don't even know personally, and I see them share crap like "Share this Llama for no reason" and it's just IRRITATING ....  it's like, fine ... I guess you don't support our kids.  Thanks.... no not really ....  just actually hurts a little.

So my girlfriend suggested that I do those pictures with the kids holding up the signs.  I'm like, okay ... that's a good idea.  So today I did some with the kids.  I'm gonna share one a day for the next few days and see how it goes.  But here are the pictures.

If you read this and you'd like to LIKE the page, we'd appreciate it.  Trust me, we'd really appreciate it.  Nathan "helps" me with the page and Noah asks how many people have liked it everyday.  It's not just my thing, it's theirs too.  It's the whole families.

 **Update**  We were at 63 likes prior to starting the pictures. We'd get one or two likes a week - if that - prior to that.   So now we're up to 88.   I know we won't get to 1,000 anytime soon.  I only put 1,000 on the cards so that we could use them for awhile.

Rare Disease Day 2013

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I know it's been awhile since I've updated - and I promise, I will do so soon....

However, today is Rare Disease Day ... and as a parent who is trying to bring awareness to rare disorders, especially those of my children ...  then I - of course - must post today!!

So .... here are the short stories of our Noah and Nathan...

Noah ...  after five years of secondary infertility, four more miscarriages (my oldest was a twin and I miscarried his twin, so it was five all together) ....  and at the breaking point of all lost hope on having another child, I found out I was pregnant at one of the worst times in my life.  I was fully of stress, worry and the unknown ...  but I grasped onto that baby like a lifeline.  We saw his heart beating and I just knew - knew - he would make it and I wouldn't loose him in miscarriage.  A few months went by and I had my 12 week ultrasound...  only, he was smaller than he should have been.  Further ultrasounds, still the same, too small.  Finally I agreed to an amnio and at 19 weeks I found out that we were having A BOY!!!  And that our lives would change forever.   We found out he has MOSAIC TRISOMY 16.  A very rare genetic disorder that very little is known about.  We were told he would die - period.  When I wouldn't accept that answer, we were told that if by some miracle he did come home, he would be so mentally and physically delayed "it wouldn't be worth it" ....  but I wasn't going to give up.  I kept saying, I'll take whatever time God grants me with him.  He was born at 33 weeks - 1lb 12oz and 13 3/4 inches....  and although we have had a lot of hurdles, and challenges ...  he is a very smart, compassionate, stubborn 11 year old now.  Because he is a miracle, and he is rare.

Nathan ....  was a surprise.  We weren't trying to get pregnant, and so when I found out .... I was in complete and utter shock ...  His pregnancy started to mirror Noah's with the growth issues.  I knew something was wrong but kept being told it was fine.  We found out at my 20 week ultrasound he had a "cyst" in his brain called a Dandy Walker Variant .... and although we later found out it's not a "cyst" but an absence of what's suppose to be there.... it's still considered a DWV.   He was born about a month early .... 3lbs 4oz and 15 3/4 inches.  Through the years - it seems like the diagnosises never stop.  He has such a dramatic list, Hypothyroidism, Cleft Palate, another brain malformation other than the DWV, Autism....  but the one we really wanted was the one that would explain his failure to thrive and lack of growth.  In April 2010 he was diagnosed with clinical Russell Silver Syndrome.  It's a type of primordial dwarfism and it's not common.  Although there are a lot more families who deal with it then the Mosiac Trisomy 16 that Noah has - but it's still scary.  Especially when Nathan is almost 6 years old and only 27lbs.   He is a rare miracle too.

I hold mine every day!

The Last Month with Noah

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Everything has been going well with Noah, other then the fact that his hearing has been getting worse. It seems like everyday it's a constant chorus of "what?" "huh?" and blank stares as if he's trying to hear you but just can't make anything out of it.  We noticed that he has started to read lips, if you make him look at you, and repeat yourself....  he'll get it.

It's hard to watch him struggle like that.  He is getting his hearing checked again soon, but it doesn't seem like it's soon enough.

He hasn't been so sick, that he has had to be hospitalized, since 2007 when he almost died.  It's silly to go back, because he's fine now, but I will never forget watching him so sick, 103-104 temp, him throwing up, just being so sick he couldn't move much, him complaining about pain in his right side /... knowing something was that wrong and not having the doctors hear me, until I couldn't take it anymore, I was desperate, so when I went in for my DR appt 2 hours away I took him with ... and finally got someone to listen to me.  Thank goodness, or he'd likely to not be here.  They admitted him, ran a gambit of tests, his kidney's were failing and they were throwing a ton of blood out into his urine.  I remember standing at the movie cabinet next to the nurses station, they were passing around his urine sample around, had no idea I was his mom, they were talking about how it looked like apricot preserves.  Yep - it was that color ....

 They saved him.   One of the hardest days of my life was to leave my child in his hospital room, and then go down one floor to give birth to another.  The day Nathan was born, Noah was released from the hospital, looking weak and tired, but better.

That was the last time he was in the hospital.

Until the end of last month.  He was running a 103-104 degree temp.... and he was so sick.  Took him in and his blood tests showed an abnormal white blood cell count, and his urine looked like this .... mind you, there is a blue stick in there that matches the color of the cover.......

A lot of blood ....... A LOT ... not as much as the last time he was in the hospital... but enough to really concern me.

The DR ended up sending us home for the night.  He was concerned about him possibly having appendicitis, or something else going on.  So he wanted him on a liquid diet until the following day.  He wanted him to come back to the ER at 11am so that they could continue assessment of appendicitis.  If his blood work wasn't better, if he wasn't starving, etc, then we would run the CT scan or whatever it was he wanted to do to diagnosis it.

So we went back the next day ....

 He was more miserable on the 26th when we went back in, then he was the night before.  His fever was not registering on their monitors all day.  Kept reading normal or low grade ... and then, I pointed out to one of the nurses that he was burning the hell up, made him TOUCH Noah.. he did it the normal way, and although it said 101 ... I told him I didn't believe it, it was way higher then that.  I said "I hate to suggest it, but will you do it rectal because I know that's the most accurate way to get a temp" so he humored me.  Want to know what his temp was?!?  104.8!  Yeah!   His pulse was racing, his blood pressure was high ... they put leads on him...  to keep better track of his heart rate.... and Noah was so hungry when we go there, that they ordered him a lunch tray and he got this huge cookie on the tray, and he didn't even get to eat half of it before he said "Mom, I think I'm gonna throw up" I frantically looked through the cupboards and such for something for him to throw up in and all I could find was a bedpan type thing, so I gave him that and........ he lost it. Not to mention, they had to stick him 5 times to get blood from him the first time, three times for the IV, another time for blood draw, and then they realized they hadn't gotten ENOUGH blood so they had to come back and poke him again.  TEN TIMES he got poked that night... and a lot of those were digging pokes trying to find a vein.  He did okay for the first couple, then he'd get really anxious between but whenever they were doing the actual poking or what not, he was brave and not crying.  He was BRAVE .. and he was AMAZING.........  (pick below, trying to show the leads on his chest, and you can sorta see the IV in his left arm on the right side of the pic ...

Good news was - his blood tests were better and his urine looked clearer.  YAY ... but something was going on.  His kidneys were still spilling out a "large" amount of blood and his Kidney Docs wanted him to spend the night in the hospital for observation.  So after 9 hours in the ER we got transferred by ambulance to Seattle Childrens.  (Noah in the ambulance)

These were taken on the ride over.  Noah - who is always trying to smile for pictures, even when he's really sick.... 

 Here he is asleep with Max ... and his blanket....

 On the way over on the ambulance ...  they got the news that he had tested positive for Influenza A (which they took the tests literally right before he was put on the ambulance bed and we were put in the ambulance)  So from then on, it was mask time.....

 He was taken up to his room at 2am and he didn't fall asleep until 4am, I didn't fall asleep until 5 ... and we were up around 8...  he had been throwing up everytime they tried to get him something to eat....but by Sunday morning, he seemed to be holding stuff down. 

So we ended up going home on Sunday.  His kidneys had cleared up and it seemed that the flu was attacking his kidneys.  I think it's going to be something we deal with everytime he gets really sick.  He ended up being out of school the whole week due to his fever coming and going all week, and then ...  we all got a stomach bug!  Seriously!?!?  At first we thought it was us getting the flu, until Noah got it too.. then we knew it was something totally different.  And after a long week of hit, misses, and a car accident, he was out that whole week too.

Now he's doing good.  Even his hearing has improved again right now.    Because we moved (while he was sick) ... he had to start at a new school and he is doing fantastic there I think.

 His new Mascot is the Killer Whale... 

He had a follow up with endo and everything is looking good, and he saw Genetics ... so that he can be followed by them. 

When ever I sit and think about everything he's been through, I am always amazed and always go back to the fact that I was told before he was even born that he wouldn't live.  Yeah he has some ups and downs.... but he is doing amazingly well for the hand he was dealt.

The Last Month with Nathan

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So a lot of stuff has been going on with the boy.  So I'm going to update.

So - we were living in a bad situation with some "friends" ... our whole family was stressed out, we were basically only sleeping there until we found a place, and we were looking.  Then one night, things escalated and we didn't go back.  We ended up staying at my Mom & Step-Dad's...  and it was amazing to see the kids moods just lift :)

But sickness then ensued.  Nathan ended up acting like he wasn't feeling well.  (here he is sleeping and cuddling his Mickey)

I noticed that his eyes were really goopy ....  so ended up waiting until the clinic opened on Monday, and low and behold, the Monday we went to go in, was a holiday ... so it wasn't open.  So we ended up going into the ER...

 Having a blast playing on the iPad ...

 See how icky his poor little eyes were....

He also had an appointment with Neurology to discuss his migraines which he had been having again, it seemed.  (Hiding from the dark a lot, needing to cuddle/kangaroo, a lot of sleeping....) ...  and when we were explaining things to him, the DR said that with Nathan's medical history he was worried about seizures ... so he wanted Nathan's eyes checked, and an EEG done.  I had never seen him have a seizure, but I also knew that you can not know someone is having seizures.

Two nights before the scheduled EEG I was sleeping with Nathan on my Mom's love seat.  Something weird happened and I actually think he had a seizure that night, I really do think it was.  I was about to record it, when it stopped.  It is the one and only time that I know of, that it's happened, but he wakes up in the middle of the night all the time - upset - and we don't know why.  So who knows.  

What happened?

Well...  he was sleeping, and he let out this whine, and it didn't stop.  Then he would build that whine into a cry and eventually he'd scream, stiffen up completely - like a complete full body stretch, arms and legs outstretched and completely stiff.  Then the whole process would start over.  Whine, build up to a cry, scream, stiff, whine, build up to a cry, scream, stiff...... I grabbed him and pulled him over on me completely unsure of what o do, he wasn't responding to me, he wasn't answering me or even looking at me like he normally does.  So I had him laying on me, back against my chest and belly and I realized while he was doing the whine building up to the cry, he was also trembling.  This repetitive process went on for about 3 minutes before it stopped.  Then he turned around, looked up at me like "what am I doing on you mom?"  He pointed at his pillow, I put him over there, tucked him in ... and he went right back to sleep.

So I called the Neuro the following day, and told the EEG people when he had it done. 

 Nathan is the "Frog" and the EEG lab is in the frog clinic ...

 Nathan playing games on the waiting room computer ....

 Getting the electrodes connected

 Wrapping up his head......

All connected ...

When it came time for the strobe lights, Nathan just laughed!  He thought it was the coolest thing.  He just laughed! Couldn't get him to fall asleep because he falls asleep with his hands behind his head, and he couldn't do that.  So he'd just get pissed off. 

The hour long EEG revealed nothing, so they want to do a 24 hour one, which is May 2nd.   I am hoping that if he is having seizures, that they pick up on it then. 

He had a check up with Endocrine to check to see how the HGH is doing and she was REALLY HAPPY with his growth.  So that's good news.  We see him going in spurts right now where he is really hungry and eats really well, and then when he's not so hungry and just doesn't want to eat.  Lately though, he has been eating like a champ and it's been so nice to see!!

His Autism (PDD) is doing okay.  He's still got major sensory stuff going on but he is doing so well in school.  He absolutely LOVES it...  it's a complete 180 from the school he was in before.  The preschool he was in before was very dull, not colorful at all, and just... he didn't enjoy it.  I donno what was going on there, but he didn't like it, and neither Dennis nor I did either.  Everytime he would go he'd cry.  We recently found out that the teacher is no longer working there either, not sure why, but she's not. This new preschool is amazing, so colorful.  Very welcoming, which is huge.  And his teacher is great.  Everytime we tell him it's a school day, he starts jumping up and down for joy.  We tell him he gets to ride the bus and he's excited.  HE LOVES SCHOOL.  Loves it!!

Then he had an appointment with Genetics too.  He saw DR. Glass.  So we would finally have answers on if his brain issues... and if it was Dandy Walker or Jouberts Syndrome, or something completely different.  We were going to finally find out what was going on with his last MRI.  He definitely doesn't have Jouberts Syndrome, I guess.  And Dandy Walker is questionable, his words were .... "It can be called at Dandy Walker Variant however it is all caused by the Russell Silver Syndrome I believe..." and then said he's rather call it some long doctor word.  So he doesn't really have Dandy Walker either, he has an under-developed vermis (in his cerebellum) or missing vermis ... and we also found out he has something called (we think this is what he said) ... Polymicrogyria ...  he said that, in a normal brain (which we all know) there is one fold, separating the left and right sides of the brain.  In the case of Nathan, along with the missing vermis, he also has a bunch of folds on the front of his brain.  Dr. Glass compared it to looking like a "bunch of grapes" ...

This is a Normal Brain

This is a Brain with Polymicrogyria

The last thing I wanted to talk about is that Dr. Glass said he conferred with Dr. M in WI (Nathan's Genetics Doc there) and completely agrees with her assessment of Russell Silver Syndrome.  Everything going on with Nathan, he said, can be linked back to the RSS. 

We are connected with a great group called the Magic Foundation, and they are having a conference this summer (which they do every summer) and we'd love to go.   But we just can't afford it.  I am debating tying to do some fundraising so that four of us could go, but I don't know if I can do it.  I really want to but...  I donno.......  UGH...

And to end with.... a few photos of Nathan "folding over" on St. Patricks Day...