SMA BLOG PARTY: This is SMA

Brielle and Brooke, both have Spinal Muscular Atrophy, type II. SMA is a devastating disease and something I was not familiar with before Brielle’s diagnosis. Since that diagnosis, our lives have changed so much. So many hopes and dreams for our kids went out the window. We still have so much hope for research to find a treatment/cure for this cruel disease and we do our best to have a positive outlook on life and do as many fulfilling experiences for our girls as we can. Our friends and family have been with us every step of the way and we couldn’t have made it through those really tough times without them.

…and even our friends of friends want to help. The owners of the restaurant “Rusty Rudder” on Lake Norman in North Carolina are friends of my sister (aka Aunt Christen) and they held a golf tournament last Monday and want to give all the proceeds to Families of SMA in honor of Brielle and Brooke. They held a golf tournament at Skybrook golf course, then complimentary food and live music and a silent auction at the Rusty Rudder after. The music was awesome and they even let Brielle play the drums along with the guys playing the live music. It was a perfect night and a beautiful sunset. A night we will never forget and we can’t thank them enough for choosing SMA for the proceeds!

 

Skybrook Golf Course, North Carolina

It was warm!

It was warm!

Thank you Hendrick Motorsports for sponsoring a hole!

Thank you Hendrick Motorsports for sponsoring a hole!

Four Generations!  Sarah (mom), Brooke, Grandma Liz, Brielle, Aunt Christen, and Great-Grandma Gladys.

Four Generations!  Sarah (mom), Brooke, Grandma Liz, Brielle, Aunt Christen, and Great-Grandma Gladys.

B&B thought the golf cart was so fun!

B&B thought the golf cart was so fun!

Trying to get a “hole in one” to win 2 brand new jet skis. 

Trying to get a “hole in one” to win 2 brand new jet skis. 

Complimentary sponsorship by Friends of Brielle & Brooke.

Complimentary sponsorship by Friends of Brielle & Brooke.

Rusty Rudder last place award.  :)

Rusty Rudder last place award.  :)

Brielle playing the drums at the Rusty Rudder later that night.

Brielle playing the drums at the Rusty Rudder later that night.

Beautiful sunset over Lake Norman.  Our view off the deck of the Rusty Rudder.  A perfect way to end the night.

Beautiful sunset over Lake Norman.  Our view off the deck of the Rusty Rudder.  A perfect way to end the night.

What is SMA?

SMA kills more young children than any other inherited disease, is the most common cause of genetic infant mortality, is the #1 genetic killer of young children.

SMA is degenerative, causing the weakness and wasting of voluntary muscles — eventually impacting crawling, walking, standing, sitting up, coughing, breathing, swallowing, speaking…anything requiring muscle strength.

SMA is estimated to occur in 1 out of every 6,000 live births. Incidence rates are comparable to the more well known ALS/Lou Gehrig’s disease and Cystic Fibrosis.

1 in every 40 people unknowingly carries the SMA causing gene or nearly 8 Million potential parents in the U.S. alone — making it “common.” Both people must be carriers for the disease to be passed on — making it “rare.” There are simple blood or saliva tests available to learn if you are a carrier before you get pregnant. The American College of Medical Genetics recommends ALL couples be tested for SMA.

SMA is terminal. There is currently no treatment or cure… BUT there is much research work being done around the world and it holds enormous potential. In fact, the National Institutes of Health selected SMA as the disease closest to treatment.

Of course while we were in North Carolina, we had to stop in to see our favorite Crew Chief, Chad Knaus!

Of course while we were in North Carolina, we had to stop in to see our favorite Crew Chief, Chad Knaus!