What was that you said?

First off many of you have probably never even heard of muscular dystrophy.  Or if you have, you probably don’t know much about it.  I fell into the latter category.

You should know, that we had began to notice differences in Cade that caused us some concern.  We had been talking to our local doctor and some physical therapist friends of mine.  Then a friend of ours, who was familiar with muscular dystrophy, asked us if it ran in our family.

Naturally, I started researching like any other person with internet access would.  I found a sit (which I no longer can find) that listed 10 signs of muscular dystrophy.  By my calculation, Cade had 9 out of 10 of the signs.  I decided, after some further conversations with some trusted friends, to get Cade tested for muscular dystrophy.

Here are some of the signs we had noticed:  toe walking, large calf muscles, upper leg weakness, a different run, a yoga-like move when getting up off the floor, and difficulty climbing stairs.  These all have very technical terms, but I can understand it better when I word it like this!

The reason I decided to post about the specific things we noticed for Cade is that we didn’t have a family history of muscular dystrophy.  If it hadn’t been for that friend, we probably would be still looking for answers for Cade.  Muscular dystrophy is carried through the mother with a family history of it two-thirds of the time.  However one-third of the time, it is just a genetic mutation that occurs.  Cade is part of that one-third.

IMG_1077

The first step in our obtaining our diagnosis was to get a blood test for his CK level done.  We did that at our local clinic and when those results came back as elevated, it was time to schedule with Children’s Hospital.  While at Children’s we received a confirmed diagnosis and Cade had a blood draw done to determine which type of muscular dystrophy that Cade had.

The genetic testing confirmed what we already felt we knew.  Cade definitely had muscular dystrophy and more specifically he has Duchenne Muscular Dystophy.

Cade’s body does not produce dystrophin which is the protein necessary for muscle production.  Everyone has exons that are like instructions for you body to make dystrophin.  In order to make dystrophin, all the exons need to be present and not have any mistakes.  Cade has a deletion of exon 45.

We now had to learn a new way of living.  Cade would no longer be capable of many of the things that we do on a farm, at least without modifications.  I’ll talk more about these modifications in later posts.

Blessings.  Lynnette

13 thoughts on “What was that you said?

  1. Thank you for starting your Blog Lynette. I don’t know you well but have the greatest love & respect for Gma Jo. She worked for me when she was pregnant with Amber, she is am swesome woman. I’ve followed Gma Tuesdays for a long time and have enjoyed each post because I know how tender her heart is for your boys.
    It grieves me that your son & the whole family have to deal with this diagnosis but I also know the Faith of your family and that’s the only thing that gets any of us thru the hard times of life. I look forward to your updates because Gma Jenny wants to know how Caid is doing.

    Like

  2. Thanks, Lynette, for the blog & for informing us of MD. My heart is heavy for you & in some ways, I can relate to your emotions & concerns. The media has helped alot so you can inform your family & friends of the disease, the progress, & most of all, how we can pray for Cade & the family. Please know we are here for you & will always support you. Never hesitate to call! Hugs

    Like

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 )

Google+ photo

You are commenting using your Google+ 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 )

Connecting to %s