the beginning of a beautiful story

This week we traveled up to Ohio for Maddox to have his first visits with our new neurologist, Dr. Wong* at Cincinnati* Children’s. If you are wondering why in the world we chose a neurologist so far from home then let me be the first to tell you. Simply…because she is who we consider to be the best at what she does. Every.Single.Day neurologists tell parents who have just gotten a Duchenne diagnosis that there just isn’t anything they can do and to go home and love them. Sound crazy? Yeah..it pretty much happened to me so I can vouch for the fact. First of all there ARE things we can do and especially after today I feel more empowered than  ever to care for my son and advocate for his needs. #mamabearhere
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So, today was day one of two days of appointments here in Cincy. We first met with the physical therapist who checked M’s range of motion. She showed us how to do the stretches he needs every single night in order to keep him loose and so he doesn’t lose his range of motion so quickly. He will lose it but at least this will give us more time. We got the order to have his AFO (leg braces) made. He will wear these every night. Basically this keeps his ankle pointed up at a 90* angle while he sleeps. Again, with the goal of keeping that range of motion. That’s our biggest goal right now because as he starts losing it he can’t keep balance, and if he can’t balance then he loses the ability to walk as his muscles weaken. Overall she said he really is doing well and we were so thankful he tolerated all the pushing and measuring with out so much as a whimper.

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Next, we encountered a little God wink when we met Dr. Lee* who is interning with Dr. Wong*. Get this…she is from Korea and came here to study under Dr. Wong* so that she can go back to Korea and start a multidisciplinary clinic just like the one at CC. She totally gave Maddox the VIP treatment. She tried her best to engage Maddox by talking to him in Korean ; ) Bless him he had no clue what she was saying but I think he was intrigued. I wonder what was going through his little mind?? She even let him watch Pororo (Korean cartoon) on her cell phone.

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Anyway, Dr. Wong* did her exam and then timed Maddox getting up from the floor, climbing stairs, and running (his favorite). She seemed to overall impressed with his ability which was encouraging to us! We talked about our treatment plan and giving him a few more months before we start on steroids. That will give him a chance to grow a bit more because the steroids tend to stunt growth and he is so tiny as it is (less than 10 percentile). A huge answered prayer and a big weight was lifted off of my shoulder when she said that we did not have to do a muscle biopsy this visit. It’s just a really invasive procedure and painful. Praise God he spared Maddox on that one!

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We covered an in depth look at the error in his dystrophin gene. I mentioned before he has a point mutation in exon 36. We learned more about what trials are in the pipeline that will be able to help him should they receive FDA approval. Overall we covered way more information than you would ever care to hear here and she spent over THREE hours with us answering all of our questions. And we had quite the list….

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We absolutely know that coming here was the right decision for our family. I would encourage anyone whose child was recently diagnosed with Duchenne to do your research and don’t let anyone tell you that there is nothing you can do. There may not be a cure and this may be a terrible, awful, no good disease but there is ALWAYS hope!

Tomorrow Maddox will have his EKG and echocardiogram. Originally we were told that because of his age they would put him to sleep for the procedures. However, because of how well-behaved he was today she said she saw no need for that. Y’all he was a ROCK STAR! Another praise for that!!! We will also meet with the cardiologist on the team to discuss typical progression of the heart in Duchenne. Every step of the way we have received confirmation that bringing Maddox here was the right decision and are so grateful that God opened doors for us to be seen here and under the care of the best doctors in the country for this disease.

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I held it together all day except when we talked about the level of care for Duchenne boys in Korea…and I just had this moment where God whispered to me, “for such a time as this..” I know that if he was diagnosed when he was in Korea it is so likely that my son would have been institutionalized. And I broke down. God is good. Do you hear me?? I cannot even wrap my mind around what He has done for our family. Trust me when I tell you that when God calls you to something He is going to prepare you for it! If you asked me five years ago if we would ever adopt I would have laughed. 3 years ago… if we would ever be able to raise a child with a terminal illness? I would have said that I wasn’t strong enough. And yet here in the midst of this crazy storm I look at my son and I KNOW that I KNOW that I KNOW that he is mine and that God chose us for this battle. Ironically, I would still say that I’m not strong enough. But you know what? I know  the ONE who goes before me and in my weakness He is strong. My son has Duchenne Muscular Dystrophy. He may lose the ability to walk, to use his hands, to breathe on his own but GOD is still good and no matter what we will praise Him through this journey. It’s going to be a beautiful story.

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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.