Noah & Mosaic Trisomy 16

MOSAIC TRISOMY 16

WHAT TO KNOW!

When a baby is conceived the basic genetic make up of every child is that they get one of each 23 chromosomes from each parent leaving them with 46 chromosomes.  However, while the cells are splitting and forming and combining and what not, things can happen.  So many variations can happen.  You can get deletions, somehow get two of the same maternal or paternal chromosome, just to name a few, or you can get a trisomy.

A trisomy is when - somehow - two chromosomes from one parent, and one chromosome from one parent attach to the same cell.  Meaning instead of two Chromosome 16's in one cell, there are three.  This is a Trisomy.

Mosaic means that it's in pieces, meaning the 3rd chromosome is not in every single cell.  It is not a FULL trisomy.  It's a partial trisomy.

Most parents will harbor feelings of it being their fault it happened.  They could have done something or not done something and things would be different.  Normally, that's not the case.  There may be genetic links where it's a genetic factor being passed along through the family lines, however, in most cases, nothing could have been done to change it.

In Noah's case, I was told there was absolutely nothing I could have done to done this to him, or done to not have this happen.  It was an act of nature.

Now Noah has some medical issues...  we can never be sure what all is wrong with Noah because we know that anything can happen at any time - any of his organs can be affected.  It's a truth we have to live with every day.... but we choose to love every day with him.

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. 

(Work In Progress Currently)