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 :(  

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