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.)

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 :(  

First Half of April's Feed Bag Art.

So April so far has been a slow feed month.  Nathan has been sick and was throwing up several nights.  We ended up stopping his feed for about a week.  We ended up getting it going again around Easter, but I started doing smaller feeds.  Instead of 3 boxes, I went back to doing two boxes.

So let me ask, does anyone else have issues with their kids getting nauseated EVERY SINGLE night, and/or vomiting from the feed?

So this is April 1 to April 15

End of March Feed Bag Art