RARE: Nathan

Nathan is an amazing unique guy.  Among a lot of issues, Nathan has Russell Silver Syndrome which is a type of growth disorder.  It is known as a type of Primordial Dwarfism, which mean proportionate dwarf.  When I was pregnant with him, all we knew about prior to his birth was the Dandy Walker Variant.   We knew he wasn't growing like he should, but he also had a 2 Vessel Cord.  After he was born, he literally averaged half an ounce a week in weight gain, and if he got sick, any gain was QUICKLY lost.  He is 7 weeks away from his SEVENTH BIRTHDAY and only now has hit 30lbs which is what a normal 18 month old to 2 year old weighs.  He is only 3'4" (103 cm/40.6 in) ....   His younger brother who is very healthy ... is 16 months younger than him (5 yrs 7 months - almost) is 50lbs and 3'11" (119/120cm, 47in) ...    

Of course, Nathan deals with a lot more than just his RSS .......

Medical Issues that we have dealt with and that we are currently dealing with: He is 7 years old and 28-30 lbs (depending on the scale) and 3 foot 4 inches (103 cm/40.6 in)…..In Nathan’s short little life, he had been diagnosed with the following: 2 Vessel Umbilical Cord, Low Birth Weight, Hypospadious, Natural Circumcision, Hyperbilirubinemia, Soft Cleft Palate/High Palate, Aortic Septal Defect (healed itself), Feeding Issues, Torticollis, Webbing of the fingers, Hydrocephalus, Bifid Uvula, Dandy Walker Variant (Missing Vermis in his cerebellum), Polymicrogyria (another brain malformation, meaning many folds, DR says the front of his brain looks like a bunch of grapes on MRI), Flat Feet, Tone Issues, Undescended Testicles, Russell-Silver Syndrome (a type of Primordial Dwarfism/growth disorder), Human Growth Hormone Deficiency, Scoliosis, Failure to Thrive, Apraxia of Speech, Non-Verbal, Seizures (when sick), Mild Hearing Loss (hearing aids for both ears), Velopharyngeal Insufficiency, Migraines, Asthma, Allergies and Autism.

Just out of curiosity - I looked up AVERAGE WEIGHT/HEIGHT FOR BOYS ... and I found DISABLED WORLD (dot) COM .....  on THIS PAGE I found the chart .......... which appears as the following screen capture ... (FYI they have a girls chart there too) ....

So on AVERAGE .....  Nathan is the weight of a 2 year old, and the height of a 5 year old.  He'll be 7 in a few short weeks.  His brother on the other hand (younger brother) ... is the weight of a 7 year old and an 8 and a half year old (they have age 9 at 49 inches which I didn't get in my screen capture) ....

Wowzah ....

After reading THIS ARTICLE at Livingstrong (dot) com ....  it says that Nathan is about the normal size for a 3 year old to 5 year old.   And Kaedyn is about what a 10 year old is at........ um, what?

Just goes to show the dangers in thinking too much ... ha ha ha  .. and comparing kids to others.  But sometimes you just want to know where about your child measures up - especially if they have a growth disorder.

So ... just out of a curiosity - at disability world (dot) com ...  they have the Children's BMI Calculator....  so I thought I would check that out ....... and his is what I learned......... You can find that calculator HERE

NATHAN'S BMI (6 years, 10.5 months)

KAEDYN'S BMI (5 years, almost 7 months)

And just for snockers and kiggles .... Noah is right about where he should be for the age of 12 according the chart I found, and his BMI is ........

NOAH'S BMI ... (12 years 1 mo)

Truly - Noah is about the size of an 8 year old.  Nathan is the size of a 2-3 year old.  And Kaedyn is just right... in my experience .....

So then I'm thinking ....  what is normal?    And I found this HERE at WebMD .......

So there is that........... This is Nathan's Charts ....

HEIGHT

WEIGHT

Rare Disease Day 2013

.
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!

Update *Nathan*

.

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!!

.
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...