Advertisements

Our Little Trooper is Now Diagnosed

Our Little Trooper is Now Diagnosed

We now have an answer for why our son has been struggling so much medically. It turns out he has a genetic mutation in a gene SHOC2 which causes a condition called Noonan Syndrome-Like Disorder with Loose Anagen Hair. This is all new to us, we only found out about it yesterday. It’s been even more difficult to get our minds around it because Dad is still recovering from his surgery. From what I can tell so far the diagnosis is overall good news. Speaking to other parents whose children also have this condition, it’s quite possible our son will grow out of his feeding difficulties. It’s also not a degenerative disease, so whatever he accomplishes won’t be lost to the condition as he ages.

I’m still sorting out my emotions, and I guess that’s to be expected considering we didn’t expect to ever get a clear diagnosis. Now we have one that is 100% accurately diagnosed via genetic testing and fits all of his difficulties perfectly making it likely it’s the only medical problem he has. Thankfully he’s talking well for his age, which makes it unlikely he has cognitive delays. He’s also close to walking, so we can reasonably expect he will walk. The main issues he’s fighting are gastrointestinal, and there’s a chance they’ll become less of an issue as he grows.

Hopefully, we’ll know more about what we can expect soon. We called all his doctors we could reach yesterday to let them know about the diagnosis and we have an appointment mid-October with a doctor that studies Noonan Syndrome and similar conditions.

Photo Credit – http://www.foe.org/projects/food-and-technology/gene-patents

Advertisements

4 responses

Leave a Reply

Fill in your details below or click an icon to log in:

WordPress.com Logo

You are commenting using your WordPress.com account. Log Out / Change )

Twitter picture

You are commenting using your Twitter account. Log Out / Change )

Facebook photo

You are commenting using your Facebook account. Log Out / Change )

Google+ photo

You are commenting using your Google+ account. Log Out / Change )

Connecting to %s

A Momma's View

My thoughts about homeschooling, health and fitness, being an expat, kids and just life in general. My personal Lifestyle Blog!

PenneyVanderbilt

World's Greatest Blogger

HeideBlog

Random observations about writing, photography, travel, and life

Daddy Coping in Style

A dad coping with fatherhood, stylishly.

The Thrifty Gourmand

Eat Well. Cook Often. Live Sustainably.

Discover

A daily selection of the best content published on WordPress, collected for you by humans who love to read.

The Daddy Blitz

Thank you for visiting my Blog! Please take a few moments to leave a comment and to sign my Guestbook. If I'm not already following you, message your Blog address to me.

thehappylife101

Live in the moment with a grateful heart

Loving Them

Even when they drive me crazy.

MakeItUltra™

Psychology to Motivate | Inspire | Uplift

MSnubutterflies

My Walk..........Living With MS

Karen Lee Kleis

Fiction, Poetry, Nonfiction, Photography and Photo Art

Art by Rob Goldstein

There is no common truth

A Thomas Point of View

My high horse journalistic point of view

lifexperimentblog

Sharing my experiences with all life's experiments!

Being Margaret

A lighthearted look at life on any given day

Dream Big, Dream Often

A Blog to Inspire and Challenge You!

HarsH ReaLiTy

A Good Blog is Hard to Find

%d bloggers like this: