Josiah tested positive for a mutation in the DMD (dystrophin) gene. He has a splice site mutation that results in exon 70 being skipped and exon 69 being spliced. This is one of the rarer mutations; less than 10% of all mutations occur between exon 64 and 70. This area (64-70) is essential for protein function, and because of that, the exon skipping drugs being tested now would not apply to Josiah. I found this site to be helpful in explaining some of this: Duchenne and exon skipping as treatment
Because this is a rare mutation, the possibility of it being hereditary is slim. I will have to be tested to be sure that I am not a carrier (only women are carriers).
The only "treatment" is prednisone, to help maintain muscle strength as long as possible. Like most medications, prednisone is not without side effects. Please pray with us that these will be minor for Josiah. He should be starting the medication this coming week.
I'm sure you understand that I cannot begin to convey how we are feeling. The tears come and go. "Normal" comes and goes. I read a book back in November- Book of Kehls by Christine Kehl O'Hagan. It is her story of having a brother and then a son with Duchenne's. It was difficult to read, but it also helped me attempt to process and come to terms with where we are now. I looked her up and sent her an email after I read it, to let her know how much her book meant to me. She replied almost immediately, and it meant so much that she took the time to reach out to a stranger. A few things she said were,
"Although it may seem like the world is coming to an end - I promise you - it isn't....
Hard as it is to believe, DMD will become just another part of your life - and not your entire life.."
I have referred back to her email often in these past months. I strongly recommend her book if you are inclined to read it. I found it at my local library.
I took the kids to the trampoline park on New Year's Day. Josiah was jumping and I thought, "I should get my phone and take some video and pictures...he may not be able to do this next year..." and the tears came.
Even though I know it's there, it is always a stark reminder when I see in pictures how difficult simple things are for Josiah and how much he looks like the pictures of other children with Duchenne's
I'm thankful for friends who hug me and let me cry. Friends and friends of friends who tell us they are praying for us. Family and friends who we know are always there for us.
An Irish Prayer In Times of Sorrow
May you see God's light on the path ahead
When the road you walk is dark.
May you always hear,
Even in your hour of sorrow,
The gentle singing of the lark.
When times are hard may hardness
Never turn your heart to stone,
May you always remember
when the shadows fall—
You do not walk alone.