An Answer

A little update on our family.  Since March we have been waiting for a diagnosis of our sweet Maddox who had elevated liver enzymes during his routine blood work when he came home from Korea. A follow-up check 6 months later was also elevated. Several rounds of blood work later and 2 DNA tests (one taking 3 weeks and one taking 7 weeks) we now know that he has a form of muscular dystrophy called Duchenne (DMD).

This is caused by an error in his dystrophin gene in his DNA. Dystrophin is like the glue that holds your muscles together. In the dystrophin gene there are 79 exons. For explanation sake, let’s pretend that the gene is a paragraph. Each of the 79 exons are words in that paragraph. Maddox has what is called a point mutation in exon 36. So, basically in the 36th word of his paragraph he is missing a letter (or a letter has been added to the word). Isn’t it amazing how one tiny little letter can change your life?

 

{Duchenne muscular dystrophy is the most common fatal genetic disorder diagnosed in childhood, affecting approximately 1 in every 3,500 live male births (about 20,000 new cases each year). Because the Duchenne gene is found on the X-chromosome, it primarily affects boys; however, it occurs across all races and cultures. Duchenne results in progressive loss of strength.

Boys with Duchenne may develop later than children of the same age—for example, speaking, sitting up, and walking. Cardiac problems eventually occur with Duchenne and may start early or during the teenage years. Typically, boys with Duchenne lose their ability to walk between the ages of ten and fourteen. By their late teens, young men lose the strength in their upper bodies, including the ability to move their arms. Also during their teenage years, young men with Duchenne usually need help with breathing at night. Over time, their breathing or respiratory systems weaken, and they require constant support.}

 

At this point in time, there is no cure or treatment that can stop the progression but there are many treatments in clinical trials that the Duchenne community is very hopeful about.

On September 3rd we will be traveling to *Cincinnati Children’s to meet our new neurologist and will also be seeing a team of cardiologists, pulmonologists, physical therapists, etc who will discuss M’s diagnosis with us and come up with a plan of treatment. He will have a possible biopsy at this time also.

 

All that to say strangely, we are relieved to have an answer and are prepared to fight this battle with our sweet boy! We are thankful for a God who loves and cares for him even more than we do and we trust in His plan for our son’s life. It’s going to be a beautiful story.

 

 

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One thought on “An Answer

  1. …and a beautiful story it has been, is and will be. I love how you explained DMD. Now that this “unknown” has a name and you have a clear understanding of it’s character, it can’t threaten you. This does not define your M nor your family. How you gracefully and gratefully move forward in this journey does. You are such an awesome, strong mom!

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