June 2022 Update ....

.

Well HELLOOOOOO there ...

It has been a LOOOOOOOOONG time .... 

days .... months .... years .....   [gasp]

It's been awhile ...  I mean, yeah.   There hasn't been a whole lot "medically" going on.  Both Noah and Nathan are relatively stable in most to all areas of their care and we're doing well for the most part.  Which I am beyond THANKFUL for.  Because there were times ... 

And COVID happened.   We literally just holed ourselves into the apartment and bunkered down.  Might have invested in learning smoke signals and carrier pigeons too, but ... luckily, it didn't come to that. We survived the 2020 Toilet Paper shortage.  

We did, as a whole family, caught COVID in January (of 2022).  We escaped it for a long time.

Noah is 20 now ....  oh holy crap.  He's out of his teens, full on adult mode .... only nothing has changed.  LOL ....  

Noah's big news is he has a girlfriend!  She seems to have developmental delays too and that causes some confusion between them sometimes.  But she brings out some great things in Noah.  And they are both learning a lot - not only about each other, but also together.  He name is Melanie.  They have been together for 18 months now.  

We're still treating his juvenile glaucoma and his muscle pain/issues still heavily exist.  Of course his physical stuff doesn't go away and his Mosaic Trisomy 16 will never go away.  But Noah is doing really well and I'm so at ease with it.  I don't have to really worry about him.  The doctor actually told me that ....  I don't need to live by the whole ....  "anything could happy any day and we could lose him" motto....  doctor said, "I think it would have happened by now" ... and the only thing that I really worry about is his glaucoma and his kidney(s) .... 

His pain is just something he's used to and we deal with.  

So I want to mention that he's about 100 lbs now and his max height is 5 foot even...  he's not growing anymore.  He hasn't for a couple years. 

Also, Noah has no desire to drive.  Just the thought of it makes him anxious.   Maybe one day he'll push through that and realize the independence is amazing, but for now, we take things at his pace. 

Nathan is 15 now.  WOW ...  this kid amazes me too.  I can't believe he is 15.

We just had an appointment with his doctor and he weighs a whopping 65 lbs.  He is 4 foot 8 1/2 inches.  The parameters for "Primordial Dwarfism" is 4 foot 10 inches or less and I really don't think that he's going to get to be 5 foot 11 inches so .....  [sigh] ...  

The scariest bit is that he has 3 upcoming surgeries.  One is this Tuesday (the 21st) and I am terrified.  Don't tell Nathan that though.  This surgery is for his VPI and so they are going to go in and try to correct some of the structure that didn't develop properly in his throat and mouth.  The hope is that when it heals he'll be able to communicate better/speech won't be so hard for him.  There is no guarantee at all and because of that - this surgery was left totally 100% up to the boy who'd have to go through it.  And he wants it done.  In fact about 6 months ago, he asked me about it.  So yeah ....  he wants to do it and he wants it to work and I want nothing more then for it to work.  

However, as his Momma, I am terrified.  Last time we talked about this surgery - the doctor made a comment that if we did the surgery, he would die because his airway was too small.... 

.... of course this was years ago, and he's bigger and his airway isn't as small ... and it's the same doctor so I think if he felt there was going to be the same risk, he wouldn't do it ... 

BUT STILL .... dammit ... . it's still there in my brain.  

AND THEN add the fact that last time he was in the hospital he almost died and I just can't ... 

..... AND I am doing this as a single parent now because my "husband" left 3 years ago ...  oh yeah....  

Hi. My name is Annissa and I'm getting a divorce.  

Is there a prize for that? 

The prize is not being in a relationship that apparently one person thought sucked so much that they had to run away screaming ....  ha ha ha .... he didn't.  He just loved me so much he decided he needed to ...  whatever.  You know my sarcasm is one of the reasons he left....  

ENNNNNeeeyyyyway

I am used to being part of a team when Nathan has surgery - and having someone who helps to keep me solid and not let the anxiety take hold.  I won't have that. Not to mention his dad would always carry him into the O.R. and it's just going to be weird ....  

........  weird.   

And last time he was in the hospital was May 2015 when he almost died.  It's not okay. I don't need to think of that either.   

Let's all promise to keep me in check and not allow me to burst into tears.  MmmmmK? So yeah.  I'm trying to be okay but I'm not okay.  

So I will be updating.  

I spent some of today trying to figure out all the stuffz I gotta pack and take.   Wish me luck. 

Hope. It's in our genes!

Today is February 28th - RARE DISEASE DAY ...

We don't need to just wait and share our stories that "one day a year" ... we should all be sharing our stories all the time, and that's what I really try to do with the boys and their stories. (If you are going to read this - PLEASE PLEASE read all the way to the end.)

When a mom (and dad) find out they're pregnant, never in a million years do you think that you are going to be one of "those" people who have a child with medical issues. You don't expect to have complication, or premature births, genetic tests, life changing news .... words that no parent should ever have to hear and that just changes your whole world. All of it.

I fought a long heartbreaking battle to have the four boys I gave birth to. I was a teenage parent - I got pregnant with Calahan, but I immediately suffered a miscarriage, only finding out several weeks later I was still pregnant and it had been twins. After Calahan was born I had four more miscarriages, and I didn't have a pregnancy that stuck until he was five years old. This was Noah, but it was very clear that the pregnancy was not going as it should be very early on. Through an amnio we discovered that Noah has a very very rare genetic disorder called Mosaic Trisomy 16. If it had been full trisomy, he wouldn't be here, however; I was told repeatedly that he would not live regardless. He was born weighing only 1lb 12.2 oz and was 13 3/4 inches long. He proved them wrong and he thrived. After Noah I had seven more miscarriages before getting pregnant with Nathan. I had gotten a divorce from Noah's biological donor and met Dennis. Surely odds wouldn't be that I'd end up with another medically rare child. But that's exactly what happened. Nathan's pregnancy mimicked Noah's in so many ways, but was also pretty different. The amnio came back "clean" and unable to detect any sort of genetic issues. Though we found out he had a 2-vessel cord and something called "Dandy Walker" ... Nathan was born weighing 3lbs 4oz and was 15 3/4 inches long. He was born with a cleft palate and various other things. Regardless... what are the odds of having two significantly rare medically challenged children with two different dads? (I had one miscarriage after Nathan before I got pregnant wtih Kaedyn, and then three more after. 16 miscarriages, four biological boys, and the boy we adopted <3 - and DB's daughter whom we hope will come into our lives-)
Both boys have a long list of medical issues.....

NOAH'S MEDICAL ISSUES: 
Medical Issues we have dealt with that may not be a big concern at the moment: severe asymmetrical IUGR, low fluid, small poorly functioning placenta, heart deceleration, bilirubin in amniotic fluid, Low Micro-Preemie Birth Weight, On Vent for 40 hours, Brachycephaly craniosynostosis, enlarged right kidney, ASD & VSD (3 holes in his heart all together), eye pupils shaped like footballs, Hypospadious (fixed surgically at 1 year), Natural Circumcision, Hyperbilirubinemia, he had both Apnea and Bradycardia (Brady’s he had, Apnea he didn’t start until a few weeks before his due date)... Brain scan at one point showed some fluid on his brain that was later declared a "variation of normal", umbilical & double groin hernias (fixed surgically at 6 months), C-DIFF bacterial infection from antibiotics and started to go into Kidney Failure, Broken Nose, Gastro issues (vomiting same time every day for years) .... He has had surgeries to repair his hypospadious, hernias, and to put in ear tubes, also dental surgery... and he has been put in the hospital/put under for countless tests.
Medical Issues we are currently dealing with: Mosaic Trisomy 16, Glomerulonephritis & Hematuria (both kidney issues), Hearing Loss (in his left ear, he has a hearing aid). Ocular Hypertension (high pressure in his eyes). Fine Motor Delay, Mixed Receptive-Expressive Language Disorder, Anxiety, ADD, Dyslexia & Dysgraphia. He is on the spectrum (ASD) in the "Aspergers" range.... oral sensitivity issues (taste & texture)... sound sensitively issues... speech delays....low muscle tone, tone issues from his hips to his toes & Supinated feet, Sensory Processing Disorder, environmental allergies, braces (for both his teeth and his feet!), skin growths/moles that are being "watched," he has ongoing Speech, Occupational, and Physical Therapies .... he homeschools due to having a poor immune system and catching everything he's around, missing more school than being there. Pre-Hypertension. Glaucoma.

NATHAN'S MEDICAL ISSUES: 
Medical Issues that we have dealt with and that we are currently dealing with: He is 7 years old (2014) 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, Velopharyngeal Insufficiency (VPI), Migraines, Asthma, Allergies and Autism. Broken Nose (2013)

In 2016 Nathan's diagnosis of Russell Silver Syndrome was taken away. He is currently and ongoingly going through extensive chromosome and genetic testing in hopes to give us a solid diagnosis. We have no "umbrella" diagnosis now but his Genetics doc is certain there is some sort of chromosome abnormality.

Age 9: weight is 45-47 lbs & 3 ft. 9 inches.
Things get added to the list, sometimes they change...... but this is a fact... something you only understand if you become one of these parents who are in this special community of other parents who "get it" because they've been through it themselves...

These children who have to live their lives knowing absolutely nothing more than the hand they were dealt, this isn't a "normal" but it is THEIR normal because it is all they know........ THESE KIDS teach us more than we could ever teach them, they bring MORE JOY into our lives then all the heart ache and worry ... It is a blessing to know these kids, to be their parents, to watch them grow, to have the honor of living their lives with them. It is an ABSOLUTE amazing thing to witness the MIRACLES that my children are and have been. The amount of PRIDE I couldn't even begin to express because I have watched these boys tackle things that adults can't handle and to step forward with fright hidden behind bravery ....

I wouldn't change them for anything - I wouldn't change one hair on their head - BUT not wanting to change who they are doesn't mean that as a parent of a special needs child you can't wish that things were different for them too. I don't like seeing my kids in pain - all the time, I want to scream every time I have to talk my child into allowing someone to do something to them that they are terrified of or that I know will hurt them, I would rather choke on begging them to be brave and watching the pleading in their eyes as waves of pain envelopes them. If I could *fix* those things that cause them pain and threaten their lives without changing anything about who they are as a person - I WOULD IN A HEARTBEAT.

I don't think people realize just how hard it is on a family to have to watch your children (sibling, grandchild, nephew/niece, etc) go through things like this - to live with the constant fear and worry that we go through. Sometimes it's hard to sit there and think "must be nice" to have such a "normal" life and not have to plan out every "what if" scenario that might happen when you leave the house just so you can be prepared.. just in case.

I have been accused of doing things like abusing my kids - making them sick on purpose (munchausen by proxy) - having people call CPS on us because they feel as if - not living in our house/living our lives - they know that our children need to be taken away because we are somehow causing their medical issues. I've had friends turn on me, family ignore me, and people just stop "caring" ... People start to complain about my being "too negative" because they don't like HEARING or READING about the boys medical issues. They feel I should focus on the positive things in our lives, and trust me - when I say - WE DO. Here is the difference. Because of our kids medical issues, our lives literally REVOLVE around the medical issues going on with our boys (and our family in general.) We don't CHOOSE to be negative - we are just expressing our everyday lives. You don't like it ....... imagine LIVING IT. This is OUR LIFE! So don't shame us, have little compassion and have some understanding. Sometimes - though - we need to vent about our day, our fears, all these things that worry us and the trials and hard things we go through on a daily basis.

I'm not saying we don't enjoy our lives, because we do. Even though our lives revolve a lot around medical stuff, I will take every day with doctors over not having my kids. We couldn't love our kids anymore than we do. It doesn't make our fears any less real. But every day is a blessing with these kids - because unlike most parents, they don't live by the motto ......

ENJOY EVERY SINGLE DAY BECAUSE YOU NEVER KNOW WHEN IT WILL BE THE LAST .....

We do....and actually have it be a reality. #theBoyWhoLIved and #SuperNathan

(Thanks for reading.)

It's that time of year....

I am entering the time period that I do, every year, where it's getting closer to Noah's birthday and I experience some ... I don't know how to explain it other than to say PTSD, because that's basically what it is. And I reflect. It never fails, it is always around now.

I think any parent, especially mother, who has had a difficult pregnancy, birth and watching their child with medical issues struggle, having to basically force and offer up your child to experience pain for their better good, it's hard. It's really really hard to have to hand your child off to someone and put your child's life in someone else's hands, it's terrifying.

As a mom, I don't fit in a box. Noah has a very strong certain diagnosis and Nathan does not. Nathan - who struggles with medical issues a lot more than Noah - has no box, he no longer fits in a group, and we just float around knowing there is some chromosome issue but not knowing what it is because it has not been found yet. But I don't have a group of mom's I can go to - to give and/or lend support. It's scary.

This time of year I always think of Noah, and reflect on my pregnancy and his birth.... which always leads into Nathan's pregnancy and birth too.

My pregnancy with Noah was really stressful for me. I had a five year old Calahan (who turned 6 right before Noah was born) and struggled through five years of secondary infertility, and at that point I had a total of five miscarriages. I found out that I was pregnant with Noah and a moment in my life where I wanted to leave my ex husband. My marriage was over that summer, but I spent several more years trying to "make it work."

Very early on, we realized things were not "right" with the pregnancy. By 16 weeks things had escalated to the point where it was highly suggested that I have an amnio to find out for sure what was wrong. Because something WAS wrong.

The day before Halloween that year, I was sitting in my doctor's little exam room with my ex husband, my mom, and my five year old son. In that moment, my life would change forever. I had no idea just how much my life would change.

And then my beloved doctor said the words.. "Well, the baby doesn't have Down's Syndrome or Spinia Bifida ... but he has something called Mosaic Trisomy 16."

Everything else literally fell on deaf ears. It was like, there was a buzz in my ears, in my brain, drowning out all the words ... all I could think was, there is something wrong with my baby, there is something wrong and I don't care. I am going to love this baby no matter what.
And then he said "Oh and by the way, it's a boy!" and I heard that.

A few short days later we met with another doctor at the hospital where Noah would end up being born, two hours away from home. He met with us in a larger room where meetings would likely take place. He sat us down ... me, my ex husband, my mother and my five year old son ... and he said things like "no quality of life" ... and .. "mentally and physically delayed" ... and ... "stillborn" ... "no chance of life" ... "possible 24 to 48 hours of life" ... and then he said, "I highly suggest that you interrupt your pregnancy."

Eight words. I thought, I can't interrupt my pregnancy... I'm only 19 weeks pregnant, I can't have him now because if I do, then he'll ... die.... and I realized what he was saying in that second. I realized he was telling me to kill my baby. He was suggesting I abort my child. The child I spent five years trying to have, the one I fought for, loved, cared for, desperately wanted... he was suggesting I don't even give him a chance.

I said .... "that isn't an option." It wasn't.

This doctor turned and looked at my (then) husband and said "And how do you feel about it."
In the half of a second it took me to think - I thought, it doesn't matter what he thinks, it's not his body.... and he said "I agree with her."

And I thought "wow" .... maybe he wasn't all bad...

The rest of my pregnancy I was told he would die. If he didn't die before he was born, he would die shortly after birth. If THAT didn't happen, he would die with in the first 24 to 48 hours. And if by some MIRACLE he did come home, he would be so mentally and physically delayed it wouldn't be worth it.

That was the speech I was given. The words burned into my brain.

"It wouldn't be worth it......"

I would go shopping, and I would find myself in the baby section looking at tiny little baby boy clothes, little boy stuff, toys, everything ... I was looking and I would pick something up and think or say, "I'm gonna buy this" and then my heart would sink, and I'd say ... no, not yet. I would put it back. I knew emotionally if that doctor was right, I would go home and see stuff, and I couldn't. I couldn't go home and be reminded ... I couldn't go home and have to deal with all the baby stuff. I just couldn't do it. So I didn't buy anything. My friend gave me a changing table. My mom got a bassinet, and a car seat/stroller combo... that was all we had basically. Most of the stuff I did have I got at Goodwill or garage sales ... but I couldn't see buying anything new.. .and I didn't buy much. I did get a diaper bag, that was pretty much it.

It broke my heart! I wanted so badly to be excited and experience the pregnancy that I deserved. It wasn't that kind of pregnancy though. It was filled with questions that couldn't be answered, a sense of being numb - protecting myself - and sadness. I had hope, I always had hope that he would beat the odds. My heart screamed he had to be okay, but my head said ... it could go either way.

My OB - the one I loved - never say one negative word about the baby. He never made me feel like he was going to die, or have issues... we made a birth plan, took birthing classes (again) and when the instructor said "Statistics say that every one in four women end up having a c-section, look around, who do you think in this room is going to end up having a c-section...." I stupidly raised my hand and said something like, "with my luck, it'll be me."

I made my doctor promise me, PROMISE ME, that if he thought Noah was going to die, that he deliver him. I wanted one thing - just one thing.... I wanted to hold him just once, breathing .... I would take whatever time I was blessed with - but I just needed to hold him once with breath and life in him.

So at 33 weeks, I was having contractions, I developed Pre-Eclampsia, Noah was having heart declarations, and things weren't seeming well inside my womb. I had told my Mom not to worry that Monday after my doctors appointment. But then the very next day I had to call her from my doctors office (they let me call long distance) and I was crying hard.... I said "Mom, you can worry now." They gave me the first of three shots in the office - to help his lungs mature - before telling me to go straight to the hospital. Don't pass go, don't collect 200 dollars, just go to the hospital.

A few days later Doc said it was time to go get him born, and he had to send me off to the hospital two hours away that could handle a baby that had medical issues and handle a small baby. So after a few days in the hospital - I got transported in an ambulance in a snow storm, two hours from home. I was thinking he would be about 4 lbs.

He said I would have him the following day, 2-2-02 .. the most awesome birthday ever, and he would share his birthday with my Mom. He was going to be her birthday gift.

But I got to the hospital and they did their own tests, and their tests showed things that were not good. His smaller than normal placenta was failing, and they weren't sure he would survive to the following day. I got to the hospital around noon, and at 3:45 PM ... Noah Alexander was born into the world.
I have major PTSD about his birth. The operating room was silent. You could hear a pin drop silent. They were preforming an emergency c-section and the doctor would make comments. But then the anesthesiologist started saying "3:45" over and over again, so I said "What is 3:45?" and he looks at me... and says, "That's when your baby was born."

There had been no cry, no sound, no announcement of "It's A Boy!" They didn't say anything, I didn't see him, I had NO IDEA that my baby boy had even been born. THERE WAS NOTHING.

I started crying uncontrollably ... I was trying so hard not to sob ... they were still inside my belly. They had taken my baby to a room, on the side of the operating room, the door was closed and I could see several people around what I could only assume was my son...

My baby was outside of my body, because my body was failing him, and I just wanted to see him, touch him, hold him - one time - just once - before he died. They were taking that from me! They were not going to respect my wishes. I wanted my baby and I couldn't even see him.

They closed me up, and took me to recovery. I laid in the bed, numb, and there were people who would come in and say things like.... "He is so cute!" ... "He's so handsome!" ... "He's looking around wondering what everyone is doing, taking in everything." ... "He's doing well" ... they listed off some issues with him, and it seemed like forever before I was given a weight.... he was 1lb 12.2oz and 13 3/4 inches long.

He was born at 3:45pm ... my Mom, ex-husband, and his mom got to all see him around 7pm (because they weren't numb from the chest down. I didn't get to see him until 9pm that night. Six hours later.

He was so tiny. I couldn't believe how tiny his little hands were, his toes ... he had the cutest button nose, and a little bit of blonde hair... I could hold him in one hand... he wouldn't all fit in my hand, but he was so tiny. He was hooked up to this and that, he was on a ventilator, and at first he had an IV in his head. But he was so tiny.

And you know what? He didn't die. 40 hours after his birth, his breathing tube was removed because he was doing it all on his own. 1lb 11oz at that point in time and he was breathing 100% on his own with no assistance. My little boy was kick ass stubborn.... nursed and doctors would go by and say "Why is this baby off the vent?" ... it's not often you see a 1 to 2 pound baby without a breathing tube.
He was quickly labeled a "feeder grower" meaning the only reasons he was in the NICU was to prove he could eat and to grow and gain weight. There were a few bumps in our NICU stay, but he came home the day after his St. Patricks Day due date.

Life has been bumpy, he has been in and out of the hospital - not very often though - and countless tests. We had to live by the motto that "anything can happen at any time and we could lose him" ... but recently I was told that we could breath with that - Noah's good. He has his health issues, but he didn't feel we needed to live by that motto anymore.

I call him "The Boy Who Lived" ... he is my first little miracle and not many people can say that they have met or seen a miracle. There are a ton of miracles out there ... preemies that beat the odds, kids with crazy scary medical issues that beat the odd... and even the ones who lost their fights - doesn't make them any less a miracle.

Noah beat his odds. He is amazing and I am so blessed. Not a day goes by where I don't think how lucky I am to have my four amazing boys, to be able to love and guide our two boys with medical issues. Regardless of the death scares and everything else.... we are lucky to have these boys in our lives. They teach us so much more than we could ever teach them.

If you read this far, you deserve a gold star for the day.

Spring Updates

Noah turned FOURTEEN years old on February 1st (2016).  It's crazy.  Sometimes when I sit there and think about it - this is the same baby that I was told wouldn't live - period.  Not only was I told that, had that fear they were right - but also - he started life at the weight of only 1lb 12oz!   It's CRAZY.  Here he is - 14!! 

As of today (March 29th) ...  Noah has some stuff going on.  He is 2 years into having those braces!  He has another year with them (at least).  But his teeth are looking AMAZING!  And that tooth that was growing horizontally, is finally starting to come down where they can pull it down with the orthodontics into place! (WHEW!)

Also, we are a little more worried about his kidneys right now.  When he saw the nephrologist in September (about 6 months ago) … they ran some labs on him.  He had a really low level of Vitamin D.  So they wanted him on a strict Vitamin D schedule – from what I was told (over the phone) from the clinic was that he needed 500-600 iu’s a day and 2500 iu’s once a week.  Now, I found out recently that wasn’t the case at all.  He is supposed to be on 2000 iu’s a day, and was supposed to do 10,000 iu’s once a week.  (Slaps forehead.)  So we are getting new labs drawn this week and we’re going to change things based on those results.  Also at his appointment, he had a high level of blood in his urine and was a +1 on the protein.  Which isn’t good.  So I did a dip on him the other morning, and he was maxed out on the blood scale and then at a +1 again (instead of a trace) … anything over a trace isn’t good.  (A trace isn't even good.)  ::: deep sigh :::  So this week they are going to do a urinalysis on him too.  I’m supposed to do a dip on him (at home) every day though – if it is consistently up there – he’ll have to go in sooner than later.  I’m a worried Momma.  I am, can’t deny it. 

Okay – after a recent haircut and when he came out of the shower, his brother noticed he had stretch marks on his back.  Normally this wouldn’t really be a big deal.  But for this little kid who has had trouble growing, period… once he hit puberty hard – he has been growing A LOT.  He has a lot of stretch marks.  He has them around his upper arms, arm pit, shoulder/chest area.  He has them on his hips, his butt, his legs a bit.   These we have known about.  They aren’t tiny stretch marks either… they are some serious stretch marks.   So his brother noticed that Noah now has three pretty deep stretch marks horizontally on his back.  (He got a haircut and showered after to get the hair off him, otherwise he usually does it when I’m in bed for the night.) Not up and down, but horizontally across his back.  This struck me as odd.  Never seen stretch marks like that.  (thinking, how many times can I say stretch marks in one paragraph?)  Then there is also the issue of the fact that he has some gynecomastia.  If you don’t know what that is, it’s where boys breast tissue develops more like a girl’s would during puberty.  Which I noticed and wondered about before, but it’s gotten worse.  And Noah isn’t overweight. 

So we took him in, figuring he needs to get in to see the endocrinologist (who he has seen before but she felt she didn’t need to see him anymore – so we’d need a new referral.)  So we took him in and the doc looked at him, checked out our concerns, and told us he was going to make the referral.  Great.  But he said something that shocked and upset me a bit.  He said “Noah’s not going to get much bigger.”  He was 108lbs and 5 foot even.   I gave him an odd look.   He said “Noah is in the end stages of puberty already.”  Noah started getting little arm pit hairs when he was about 7 years old.  I would bring this up to doctors (back in WI) and usually just got shrugged off.  Noah he’s 14 and almost done growing?  He hasn’t grown in height much in the last year I think.  On Nov. 18, 2015 he was 107lbs and 15 and a half of an inch (probably had shoes on – or was at a different clinic)... but I have that in my book that I use for important info.   So in four months he hasn’t really gained height or weight.  So yeah.  I’m a little irritated that my worries about his early puberty weren’t really heard.  It kinda makes me sad.  I’m 5’3, and he’s shorter than I am, it just makes me sad.  Nathan is going to be around that too – probably shorter.  Boo.  Just….  BOO!

Meanwhile – with Nathan – who is going to be 9 next month – CRAZY!  This VPI surgery is still on the table.  Since the doc wanted to wait a year to give him a chance to grow and gain weight (because he was worried with Nathan’s tiny airway, he wouldn’t survive the VPI surgery.  He literally had said “if we do the surgery, I’m afraid it’ll kill him.”  So last time we saw the DR – there was talk again about this surgery – because he needs it.  It’s the only chance he has to be able to talk.  He works so hard at talking and trying to communicate with us, but with the VPI – it won’t get better unless he has the surgery.  Now, if he has the surgery, it is not a guarantee that it’ll fix his speech. But he has a better chance.  So the next step we needed to take was Nathan having a sleep study and he did.  On January 2^nd, and we got the results in early February. 

The results of Nathan's sleep study. To put it in perspective, Nathan is a very active sleeper. He spins around in his bed, his head could be at the normal spot, next thing you know he's done a one eighty and his head is where his feet were, he's constantly twisting and turning and all that all night long. During the sleep study, he did not move like normal. It took him a long time to fall asleep and he couldn't get comfortable because he was very aware of the wires and cords and everything - he was afraid to move and he falls asleep on his side, and didn't want to move on his side because of the wires and cords - so his movements were a lot less during the sleep study than "normal" .... So the results they got that night were as follows.

They want Apneas to be less than 1. Nathan's were around 8 to 9 per/hour. (which is funny, because that's what his Dad’s are at too)...

Nathan doesn't really STOP breathing, but his breathing gets very shallow. It's called Hypopnea. (Nathan’s Dad stops breathing)

His Apnea is classified as mild to moderate.

He also has Disruptive Sleep. She said he didn't wake up much - he slept 92% of the time after he fell asleep initially. He did have a lot of leg movement. She said they like it to be less than 5, and Nathan's isolated movements were around 10 and his repetitive movements (like a kick, kick, kick type thing) was at a 5.5.

So he definitely needs a CPAP machine. I know this isn't a big deal in the long run of issues, but it still sucks a lot for him. Compared to him almost dying last May, this is just a blip on the radar. 

We got his CPAP machine about a week ago.  They didn’t have a mask that fit him though.  He has a full face mask but it’s a little too big for him.  

  (Dad is super jealous of his machine too – Nathan has one that warms up the water and has a bunch of fun stuff.)

Just saying – things just don’t stop being added to Nathan’s pile of stuff to deal with. 

We’ve been making adjustments to the head gear for it to fit a little better.  For example, I put snaps in places – like – where it velcros to tighten on his head, because it can’t velcro properly where it’s supposed to because it’s longer then were it would normally be placed.  Also where it attaches to the mask, that is velcroed too and he would pull that apart in his sleep – so I added snaps to make it more secure.  Then today, I added something more to his gear, because he would slip the upper strap on his head and pull it down to pop his mask off, so I added material (with snaps) from the top strap that sits on the top of his head, to the one that sits at the bottom of his head.  Oye!  But we’re trying really hard to make it work.

So over the next few months we are going to be seeing all the specialists again.  So updates will come with all those fun appointments!  Joy to the World.... 

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 :(  

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.

Trisomy Awareness - Soul (day 31)

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MARCH IS TRISOMY AWARENESS MONTH

Share on the fb page, TrisomyFamilies, and their blog, support4trisomyfamilies.blogspot,  And HASHTAG ‪#‎trisomyfamilies‬ ‪#‎trisomyawareness‬

Today's key word is Soul ......

Noah has Mosaic Trisomy 16.  Trisomy 16 is not compatible with life. There are zero known cases where a child with Trisomy 16 has survived, infact, most pregnancies resulting in a Trisomy 16 baby end before the first trimester and is said to be the leading cause of miscarriage (according to some literature.) There are less than 100 known cases world wide of surviving children with Mosaic Trisomy 16.  When Noah was born in 2002 it was around 35.  The advice given to parents who find out about this diagnosis during pregnancy is to terminate.  That was NOT our choice.  We were told he wouldn't live, we were told he wouldn't come home.  He wouldn't even survive the pregnancy.  We were told that IF by some MIRACLE he came home, he would be so mentally and physically delayed it "wouldn't be worth it" .... and yet, my son, who has Mosaic Trisomy 16, is 13 years old.  He is beating the odds because we didn't listen to what they medical community said and we trusted our journey.  I had to prepare myself for the chance he wouldn't make it, but I had such high HOPE that he would.  He shocked and amazed everyone, and he continues to!  He is The Boy Who Lived! There are a lot of Chromosome abnormalities.  They are not limited to Trisomies.  There are additions, deletions, and multiple changes in the Chromosome make-up.  Educate yourself!!  Ask me questions about our journey!  We love telling Noah's story!