Sunday, September 6, 2009

NDD - First Week of September

I have been planning on restarting Nathan's Daily Diary ... since I hadn't been doing it over the summer due to a lot of things - but mostly I wasn't feeling well.  
I had planned on starting back up on the 31st but that apparently didn't happen.  We had a very busy week and each day just sort of ran away with me.  We have been working on homeschooling every day and just getting use to doing new things and trying to pack everything into one day.  
I had talked to Nathan's genetic counselor, Kara, about the Russell Silver Syndrome and how the had fit into the signs/symptoms of that particular disorder so well, and the genetics test they had run for it had come back normal.  The main genetics DR who is on Nathan's case wasn't in, she's on vacation for the week.  Kara kinda laughed and said "I've been preparing myself for the questions you might ask" LOL...  makes me feel so knowledgeable.  Anyway - I found myself chattering on and on and on and on and I'm sure I probably bored her to death with my endless chatter, it really goes to show that when you get a little adult conversation when you don't get much - you tend to let your mouth run.  Anyway, unfortunately the call ended with me basically hanging up on her.   Nathan has a habit of eating stuff he's not suppose to and putting whatever in his mouth so we really try to monitor him and be careful, and since I was on the phone walking back and forth between the living room and the kitchen, he thought it would be a great idea to jam this screw thing (something you screw onto a toy screw, like a nut, it had a hole in the middle and such) .. anyway he jammed that into the back of his mouth and started gagging and choking.  So the phone call ended with these words. "He's choking I have to go bye" ... and I hung up and dug it out.  Oye that child gives me gray hairs.  (And I'm so not kidding about that - my grandma and mom really don't have any gray hairs, but I've found a few!) ..  

For those who don't know about Russell-Silver Syndrome (or it's aliases)   Here is a run down of some of the signs/symptoms ....  top one is from
  • Arms and legs of different lengths  As far as I know his arms are the same length and so are his legs (but don't quote me on that - if there is an issue, it is very slight)
  • Coffee-with-milk (cafe-au-lait) colored spots Not that I know of
  • Curving of the pinky toward the ring finger  Yes he has this
  • Delayed bone age  Yes he's been tested and we've been told he does
  • Failure to thrive  Offically labeled this year
  • Gastroesophageal reflux disease  Yes, in the past very badly, but it has gotten better
  • Kidney problems, such as:  not that I know of 

  • Low birth weight  Yes, born at 36 weeks (almost term) ... 3lbs 4oz
  • Normal width of head  I'm not sure if it's normal, but it's the closest thing to "normal" on him  (he's way down/not on the growth charts for weight and length but he's close to bottom/on the chart for his head)
  • Poor growth Yes definitely
  • Short arms  I don't know about short arms, but I assume so?  I know I often find myself thinking "he has such short legs ..."  So I assume that his arms are shorter too
  • Short height (stature)  I think so (he's definitely shorter then he should be for his age, but in general too - I think so)
  • Short, stubby fingers and toes I don't know that I would say short and stubby...  I think his toes are shorter - especially compared to his very long feet.
  • Swelling of the food pipe (esophagus)  not that I know of...
  • Wide forehead with a small triangle-shaped face and small, narrow chin I think that his genetics DR had said he fit in this... but again, don't quote me on it

What is the Typical Russell-Silver syndrome (RSS) Phenotype?
The RSS phenotype includes a number of physical and developmental characteristics. One of these, asymmetry, is unique to Russell-Silver Syndrome, while others, like low birth weight and length, are shared by RSS and SGA children in general. 
Characteristics Considered to Distinguish Russell-Silver syndrome Children From Other Small for Gestational Age Children: 
body asymmetry -LARGE side is "normal" side ... I think for the most part, at this point in time, his body is pretty symmetric.  His head is not (his face is as far as I can tell) but his head became mis-shaped at 6 months when he had a case of hydrocephalus
inadequate catch-up growth in first 2 years  ... absolutely fits this
persistently low weight-for-height - lack of interest in eating  ... absolutely fits this
lack of muscle mass and/or poor muscle tone  ... absolutely fits this 
broad forehead ... I think so?
large head size for body size  ... absolutely fits this
hypoplastic (underdeveloped) chin & midface ... I think so?
downturned corners of mouth & thin upper lip... I'm pretty sure he fits this, I know that the corners of his mouth do turn down
high-arched palate... absolutely fits this (not to mention it being a closed cleft palate)
small, crowded teeth ... I think so
low-set, posteriorly rotated &/or prominent ears ... absolutely fits this
unusually, high-pitched voice in early years ... not sure
clinodactly (inward curving) of the 5th finger... absolutely fits this 
syndactyly (webbing) of the 2nd and 3rd toes ... absolutely fits this - it's not

complete webbing but it's there, and it also runs in Dennis' family (webbed feet)
hypospadius - abnormal opening of the penis ... absolutely fits this, he has to have surgery to correct it which we've been putting off, he's just so small :(
cryptorchidism - undescended testicles... absolutely fits this, infact they don't know where his right one is and has to go through an ultrasound to find it - if it's in his belly somewhere it could cause a tumor.
café-au-lait (coffee-with-milk) birth marks ... not that I've noticed
dimples in the posterior shoulders and hips ... in his hips - yes
narrow, flat feet ·... absolutely fits this
scoliosis - curved spine, associated with spinal asymmetry and accentuated by a short leg... he has scoliosis but I'm not sure if he has the leg thing going on (at least not yet) 
Characteristics of Small for Gestational Age Patients in General That Are Seen More Often in Russell-Silver syndrome Patients:
  • fasting hypoglycemia & mild metabolic acidosi ... not that we know of. 
  • generalized intestinal movement abnormalities: ... absolutely fits this (to all three)

    • esophageal reflux resulting in movement of food up from stomach into food tube
    • delayed stomach emptying resulting in vomiting or frequent spitting up
    • slow movement of the small intestine &/or large intestine (constipation)
  • blue sclera (bluish tinge in white of eye) ... not that I've noticed 
  • late closure of the anterior fontanel (soft spot) ... absolutely fits this (I don't think it closed until he was 2)
  • frequent ear infections or chronic fluid in ears ... absolutely fits this - not with the ear infections but with the fluid, yes - he just had tubes put in and has major hearing issues because of it
  • congenital absence of the second premolars ... not that we know of
  • delay of gross and fine motor development ... not so much 
  • delay of speech and oral motor development ... absolutely fits this 
  • kidney abnormalities ... not that I know of
  • delayed bone age early, later fast advancement ... absolutely fits this (the delayed at this point)
  • early pubic hair and underarm odor (adrenarche) ... nope, not yet anyway 
  • early puberty or rarely true precocious puberty ... he's only 2
  • classical or neurosecretory growth hormone deficiency ... not sure 
  • ADD and specific learning disabilities... not that we know of

So he has - in addition to all this, his Dandy Walker Cyst in his cerebellum and the closed soft cleft palate...  and his hypothyroidism (which is the one that makes you gain weight, but in his case, guess not)...  and the possible autism spectrum disorder (going in for his testing Sept. 16)  Anyway - as you can see he fits in the RSS list well but not completely.  I think they were planning on re-evaluating him in a couple years for him, but as a parent that's frustrating because you just want the answers and if there is a treatment (in this case, the HGH) then you would rather they have the best chance of doing it with success.   Another thing that he had is that he had webbing on the insides of his fingers.   The area where you bend your fingers, on the inside of his hand, he had some webbing where he couldn't straighten out his fingers all the way.   (here are two examples of how he couldn't straighten his fingers)  We have managed to - with stretches - fix this problem for the most part.


The ASD issues, I swear I become more and more convinced.  Between his sensory issues, his need for routine, the way he melts down with people (not your typical temper tantrum)  his eating stuff he shouldn't (the stuffing of children's chairs, paper, wrappers - he will find and put this stuff in his mouth and just sit there with it)... in the photo he's eating the grass from under the tree ... Even if it's on the low end of the spectrum with PDD-NOS ... yes he makes eye contact, yes he sometimes responds to his name, yes his speech is getting very slightly better since getting the tubes, and his hearing has improved greatly...  but the spinning, the hiding, the seeking out darkness, the melting down at touch, at fabric, at things not being his idea, his fear of darkness (outside, the moon? I don't know) ... things have gotten worse since he got sick, and some things have gotten better.  He's FINALLY more smiley and more his normal self from over a year ago - but he's yanking on fabric when a short sleeved shirt or shorts are put on him and isn't satisfied until he gets long sleeves/pants on ... he gets off his routine and he melts down, he loves tight spaces and melts down when new people touch him and he doesn't want them to (or even people he doesn't see often, like his PT went from once a week to once every 2 weeks, he hasn't seen her for 3 weeks and this last time he saw her - he literally melted down everytime she touched him - there for his 45 minute session lasted 15 minutes tops.) ...  he is very particular about his foods, he eats a few things very well, eats several things okay, and turns his nose up at so much - if the taste or texture don't please him, he refuses it period.  He is very attached to Mommy and even if it's just Daddy around, he melts down looking for me.  I really can't stress either the melting down that happens when his routine is messed with.  

Anyway ...  Nathan was really sick over the past several weeks.  It started with Kaedyn coming down with Rotavirus (mind you, when it started, I thought he had the poops because of teething) ... then Nathan got it and I knew it wasn't just due to teething.  Here is an update I wrote on my main blog about it all - goes into detail...  Pee is so Exciting (Nathan is sick) *Update* ...  and so he almost got hospitalized (thank goodness we got through that on the up side) ... he did lose weight, and he FINALLY started to get better earlier this week.  It turned out he had some e-coli also and I'm not 100% the result didn't come from contamination.  But regardless, he was treated for it.  

 Funny story - the other night we gave the boys baths...  Nathan use to LOVE baths, but ever since I put bubble bath in one night - he melted down - and now he HATES baths.  I mean he use to want a bath 10 times a day, and now it's like it is acid.   So we get him in, wash him up quickly, and get him out, but then let Kaedyn play.  So the other night after Kaedyn was done, I asked Cal (our oldest) to get the water drained and shut the door before Nathan went in there and got all wet in the tub.  See, he hates bathes when he's naked but apparently clothes are more of a security then I realized for him - because then he has no problem playing.  Now he's never crawled in there after bath time, but he does play outside the tub...  well I was getting Kaedyn dressed, I asked where Nate was, Daddy went to find him...  
Yep, he was in the tub..... LOLOLOLOL...  all wet!  So then I had to get him into dry PJ's.. lol..

Anyway - tomorrow will bring back the Nathan's Diary - I can't say it will be daily - since I'm super busy, but I'm going to try.  

Today...  Nathan and I were working on the puzzle that his ST left here LONG ago .. (we should probably give it back, LOL) ...  and Mommy was saying the animal and the sound the animal makes, I would ask "where does the cow go?" and he'd point to the spot and then put it in there.  (yes, typical austim children don't do this, that's why I say I think he's on the higher end of the spectrum.) ... and he even tried to say "MOOOO" and "QUACK" and "BAAAH"

 We also worked on some (Care Bear) color flash cards.  Mainly it consisted of me saying what was on the card "Black Train - choo-choo/ Blue Bear/ Yellow Bear/Pink Balloon" etc...  and he'd take the card... then he took the box from me and would put them in the box, then take them out and put them back in and as he was putting them back in I would re-name the card... this all went on for a half hour.  In the end I was holding 2 cards in my hand and I asked him .. one had a picture of cherries, the other had an orange circle with a heart inside ...  "Where are the two red circles?" .. and he pointed to the cherries!  YAY!!!

And then we were sitting in the living room, he grabbed Daddy's gaming headphones and his brother's DS ... and he was playing ... this was cracking me up!

Then we had some Brunch (Breakfast late, Lunch early) ....  he ate a little, he could have eaten better but he did okay.  He ate most of his bacon (half a piece) and some eggs.
He then (later) grabbed Daddy's calculator and was using it as a cell phone.  LOL... 
It's been a very rare day where he has just been all smiled and goofiness ...  we love days like this!  Seriously - they seem far between but they are the best.    Right now he's napping...  then it'll be time for dinner and snuggles... reading a couple books ... and dare I say... a bath???


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