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.