Thursday, March 29, 2012

More Deer

Nate and I aren't able to get out much so we can get really bored and restless by the end of a long day (or week) of never leaving the apartment. This morning we pretty much woke up bored and restless. Enter Auntie Tracy to save the day.

Tracy came over with Cousin Lucas and took us on a drive through the mountains to Huddart Park. Not only did we see herds of cows on the way there, but there were THREE DEERS at the park just waiting to be admired by a little boy who loves any and all animals. And these deers didn't scare easily--they let us walk as close as we wanted to them and watch them have their lunch.

On the way home Nate begged for "more deer" over and over and over again until he wore himself out and fell asleep. The first thing he said when he woke up (well, before his eyes were even fully open) was "deer!". And guess what most of our conversations have been about for the rest of the day.

What are you doing on your next day off, Tracy?

Wednesday, March 28, 2012

This is Nate's version of standing up at his crib and trying to get out. It was kind of weird when we realized we could move the crib mattress back up to the highest level and he wouldn't be going anywhere. But I'm glad the mischievous spirit remains.

Sunday, March 25, 2012

1, 2, 3, 4 Let's Have a Thumb War

Nate loves thumb wars. His thumb is one of the two fingers he can actually use pretty well but he thinks thumb wars are SO fun he pretty much loses control of his whole body when he plays from laughing so hard.

Yet somehow he remains undefeated. How does he do it?

Tuesday, March 20, 2012

Scoot Scoot

There are a lot of can'ts in Nate's life. Nate can't:

Breathe on his own
Eat by mouth
Crawl, stand, or walk
Get his own toys out or even play with most toys without help
Laugh or cry audibly
Go swimming
Play on playgrounds or in sandboxes
Go to church with us, or to any crowded place

And that's just an abridged version. Basically he just has a lot of limitations. We try not to let them define him but they do influence everything we do. So we really appreciate all he can do and are especially excited when Nate gains a new ability.

Nate's latest and greatest trick...scooting! He's figured out how to get onto his tummy and do a little army crawl. It's slow and awkward and he can't get too far before he gets tired but he's proud of himself and so are we! He's awesome.

Sunday, March 11, 2012

What is SMARD?

Spinal Muscular Atrophy with Respiratory Distress Type 1 (SMARD1) is a neuromuscular condition causing weakness of the muscles. SMARD is caused by mutations on the IGHMBP2 gene. It is a motor neuron disease, meaning there is progressive destruction of cells that control motor function. The predominating symptom is a severe respiratory distress due to paralysis of the diaphragm. Most patients present at the age of 1 to 6 months with respiratory failure and progressive muscle weakness with predominantly lower limb muscle weakness. Cognitive function is unaffected. Like all motor neuron diseases, there is no cure.

The gene for SMARD is passed from parents to their children, but SMARD can only affect a child if both parents carry a defective gene (this is called an autosomal recessive pattern). My husband and I are both carriers of the disease, and our children have a 1 in 4 chance of being affected by SMARD. Testing is done through bloodwork and was, until very recently, unavailable in the United States.

SMARD is little understood and even less known. Since IGHMBP2 is such a newly discovered gene, there is not a lot by way of information about SMARD. Nate's doctors had never even heard of SMARD until I asked for him to be tested for it (I heard about it from another trach mom). From what we know, there are only about 50 cases worldwide.

In spite of all this, there is hope for SMARD kids! Two doctors at the Jackson Laboratory in Maine are studying the disease and are making some headway. It is amazing to think that a treatment or even a cure could be discovered in Nate's lifetime! However, since SMARD is so rare, there is very little money to support their research. They need continued funding to be able to advance their research. Nate and his SMARD friends need your help! To learn more about donating to SMARD research at the Jackson Laboratory, click here.
This is Nate. He loves coloring, books, and Curious George. He'll be two in a few weeks. He's been through a lot in his short life and we're so lucky he's still with us! He just got diagnosed with a rare genetic disease called SMARD. To learn more about Nate's story, click here.