Genetic Testing

We've had some questions about the genetic testing that I may have mentioned on here or in an email we sent out to our friends and family. So I thought I would TRY to explain what it is and why we may or may not need it.

I'm not an expert on all these terms and how the testing works..so I'm explaining it to the best of my understanding. If you read the What is CMT page, you saw that there are quite a few different kinds of CMT.  Each one can bring on different symptoms later in life. Some are more debilitating than others. Some produce severe symptoms while others may not progress as fast. We do not know which type Brody has. We do know that its not CMT1A, the most common form of CMT. Once they rule out CMT1A, it takes specific genetic testing to determine which gene is mutated or defected. The lab that does these tests has a patent on it, therefore it is OUTRAGEOUSLY expensive.

Our genetics doctor originally ordered just 3 tests to be done, the ones she thought were the most likely. Well, the insurance denied coverage of that. So nothing came of it. When we met with the MDA doctor a couple of weeks ago, she wanted to order the entire panel of tests which would test for every type of CMT at once. We explained that the insurance wouldn't pay for 3, so we definitely wouldn't expect them to pay for the entire panel. So she's putting in a request for just 1 test and we'll see what response we get.

So why does Brody need these tests done anyway? Why do we need to know what form of CMT he has? The treatment is the same no matter which type it is. There are a couple of reasons why knowing what gene is affected would be beneficial. But at the same time, knowing ultimately doesn't change much. He would still receive the same care and medical treatment, obviously with some variation depending on how severe his symptoms get. Basically, knowing what type of CMT Brody has would shed light on 2 things:

-Knowing what to expect in the future for him. Knowing the type could tell us what typically happens to patients with that type. Will he be in a wheel chair, or use a cane, or lose the use of his hands, or never progress any worse than he is now? I guess we would be mentally prepared for the possibilities.

-Knowing if our other children (or family members) are affected. Some patients show signs of the disease early in life, like Brody, while in others it may not rear its head until the teen years or even later in life like 30s or 40s. So although our middle child shows no signs of it, it doesn't mean that symptoms couldn't onset later on. (that baby is too young to tell if he has symptoms) So I guess knowing this would help prepare us for the possibilities of them ending up with the disease. And, depending on the exact strain, help our siblings know if they should look for signs of it in their children. If we knew which one of us was the carrier, it may shed light onto some family genetic history and we would know if others could potentially be affected.

But despite the "knowledge" this would bring, ultimately, we aren't stressed about the genetic tests, especially if the insurance isn't going to pay for it. If they agree to, great. But if not, its not something we are raising money for or are going to be worried about not having done. Because ultimately, we can't change anything, no matter what the results said.

"Therefore, do not worry about tomorrow, for tomorrow will worry about itself. Each day has enough troubles of its own." Matthew 6:34

"Do not be anxious about anything, but in every situation, by prayer and petition, with thanksgiving, present your requests to God." Philippians 4:6

I hope this somewhat explains the genetic testing to those are have asked. We are all learning about this together and we appreciate those of you who are along for the ride with us.

Comes with the Territory

Its kinda funny to me that the first week we have this blog going for Brody, he has his first real CMT related injury. One of the major issues CMT patients deal with is falling down for what appears to be no reason. To others, it looks as if they just trip over air. Brody does this constantly throughout the day and usually just pops back up and says "I'm ok." The reason is that they have "foot drop" and their feet point down towards the ground. So they have to work harder to take steps to keep their toes from getting caught on the ground and causing them to trip.

Well, today, he was not ok. The poor guy fell while walking, but he went a little more "head first" than usual. He hit his head on the corner of a cute little foot stool the boys have in their room to help them climb into their beds. And he hit it hard. He was crying, blood was pouring, and I had a newborn in my hands. I ran for a towel and my cell phone. I don't even know if Matt heard complete sentences on the other end of the phone through the crying of Brody and the baby, as well as me being slightly panicked and probably somewhat over reacting. But I obviously got the message across because he showed up at home soon with a co-worker who was a former paramedic.

We decided that Matt should bring him in to the pediatrician. We didn't want to risk assuming it was no big deal and then it turn out to be worse than we thought. Matt said he was very glad we made that decision. As they cleaned it out he saw how deep it actually was and was afraid had we not gone in, it wouldn't have healed properly.

So now he's all super glued up. No need for stitches, thank goodness! Injuries like these are things that we can't always prevent from happening. We can't follow him around or keep him in a bubble to keep him safe. We just have to teach him to try to be a little more cautious. But more importantly, keeping him in his leg braces and doing his therapy will hopefully help prevent these type of things from happening.

Welcome

Welcome to Brody's Walk!! We're so glad you stopped by to learn more about Brody's condition and to see how he is being such a champ through it all. Before I say anything else, I just want to give thanks to the Lord for all he is doing through us during this time. We never imagined we'd have a child with a "special need", and although Brody's disorder is not life threatening, it has still been taking quite an emotional toll on us as we process all the possibilities. But God has already proven himself faithful just in the last week and has given us peace, comfort and support through our friends and family. We know its going to be a hard journey but we fully believe that God has it all in His hands, even when it doesn't appear that way.

So, what's this site about? We'd never considered having a special blog just for Brody. We don't want him to get "special treatment" or to be treated like he's different. He is just like any other child when it comes to mental capability and cognition. His only disability is physical. So although he'll need special attention at times when it comes to accomplishing physical tasks (climbing stairs, getting dressed, etc) he is a normal 3 year boy! So why does he get a special blog??

You can get the longer version of the story on the "Brody's Story" page above, but the quick version is that until last week, we were honestly naive about our son's disorder. We were maybe in denial about the long-term care he'll need. We pushed the possible progression of CMT and how bad it can get out of our minds. And last week we were hit with the cold hard truth from his new doctor at the MDA clinic. We learned of the struggles he could have. Of the emotional roller coaster we'll go on. Of the financial burden this will be. But most importantly, we realized how much we'll have to rely on God. (how sad that I forget that sometimes). We took a couple of days to process and then I started coming up with ideas.

So, reason 1: I realized that there are other parents out there who have children with the same disorder. Some may be in worse condition than Brody. And they may feel alone. Maybe by having this blog set up we can reach out to those parents. Offer them encouragement and hope by sharing Jesus with them.

reason 2: We know that God will provide financially. And yes, if He wanted to, he could drop money out of the sky. But when He says He'll provide, it may mean through using our talents that we have to raise funds. I have a graphic design background and we are working on an etsy shop that will be filled with scripture art for the home, stationery products, etc. Through Matt's industry, we may have opportunities for fundraisers, raffles, etc. So we felt that having a blog would be a great way for those who are purchasing items or participating in fundraisers to be able to learn about the cause that they are donating to. Also, the blog (and facebook page) are great ways to alert the community of fundraisers or events that are taking place.

And the last reason that this blog is separate from our family blog is that we don't want our personal family blog to be made available for the general public to see.

Thanks again for stopping by. Give us a few days to get all the kinks worked out, get all the info pages completed, etc. We hope that you'll bookmark this page, become a follower, etc and stay up to date with Brody's journey, how you can be praying for us and be a part of all the ways God is going to use this experience.