This post serves mostly as a tool for me to keep track of progress and further organize this wild health journey that I’m on. However, if you’re following along (and already read the first article in regards to my recent Ehler’s-Danlos Syndrome diagnosis – here) then this also serves as a brief update for you… Oh, and thank you. For real, your support and positivity is a refreshing reminder that life is beautiful, regardless.
Okay, soooo, not the best news.
Yesterday I received the call that we were waiting for, from our geneticist.
The timing was quite perplexing though, seeing as it had only been one month since we sent the tests off and were initially told that results would take about 2-3 more before returning.
But regardless, I braced myself for what he was about to tell me. My instincts were to “bear down”, almost as if I intuitively knew something wasn’t right.
To begin, he shared that my daughter, Bella, had perfectly “normal” results. But then he explained that she actually wasn’t tested for the cardiac mutations like I was, and hers was geared more towards possible developmental issues.
Then he continued with, “So now with yours…”
So the type of test that was done with my DNA, is called “J555”. It’s a panel that covers 49 genes, all that relate to heritable disorders of connective tissues (HDCT) – when mutated.
My results came back with TWO GENE MUTATIONS.
The geneticist explained that one of the mutations was not something that was of any worry because I do not have the syndrome in which that gene mutation is correlated to. It may be a bit confusing, but basically a mutation was found on a certain gene of mine, but it did not cause the developmental issues that its been found to cause in some individuals from birth (like skeletal abnormalities, etc.).
However, the other mutation was of the “MYH11” gene. He explained to me that this specifically correlates to possibly developing HEART ANEURYSMS.
Without time to fully digest that news, he immediately started to lay out a plan of action.
He said that from here, we need to have my mom, dad, brother, and uncle (because he has a heart defect and an aneurysm!), ALL TESTED FOR THIS SPECIFIC MUTATION.
My first reaction was, okay, what’s plan B? …because, well, genetic testing is not cheap. Plus, my family members tend to be the types who never go to the doctor unless an arm is literally falling off (okay, I’m being a bit dramatic, but you get the point).
The geneticist remarked, “that IS the only option.”
He then followed with mentioning that because I already had the FULL Cardiology Genetic Panel/Heritable Disorders of Connective Tissue Panel done, that my family members only have to be tested for this ONE specific gene mutation. He said that with a copy of my results, their private insurance shouldn’t have a problem approving for the one test.
That’s when the anxiety began for me…
I was realizing that not only do I need to come to terms with this further diagnosis of mine, but now I have some work to do to execute this plan. I have to persuade my family to: all get time off of work, go to their primary doctors (which also means paying a co-pay), request a genetics specialist referral or for this specific genetic test, wait for insurance approval, schedule for the following appointment or test itself, and wait for their own results! Then I have to get those results back to MY geneticist.
But before getting off of the phone with him, I not only asked for ways to easily explain the gravity of this entire situation, but I also inquired about my daughter. I was confused as to why she wasn’t also tested for these mutations. He explained that he did not want to label her with such a diagnosis before knowing if this mutation of mine is definitely rooting a cardiac valvular type of Ehler’s Danlos Syndrome. And although I have many of the symptoms, it has to be traced genetically. He wants to know, “where it is coming from”, in order to go any further.
Once we ended our phone call, I almost instantly started drafting a text explanation of everything, so that I could begin the task of getting my family members to seek genetic counseling. But the weight of things got the best of me, I called the day over and as soon as my kids went to bed, so did I.
I wanted to wake up in the morning with a renewed outlook and the ability to tackle the journey ahead with the strength and patience needed. Funny thing is though, when you have one plan for yourself, most likely your kids will have another. I woke up, had a nice sole (salted) soak in my tub, got out feeling refreshed…. only to then find a massive poop diaper explosion by my happier-than-ever baby boy.
The rest of the day came and gone, and then I found myself sitting here, NEEDING to write. And ya know, I’m not sure if this will end up being truly edifying for anyone else, but it sure is theurapetic for me.
Especially because what else I am about to share with you…
Before I started writing this post, I was doing some research. I was utilizing the U.S. National Library of Medicine. In using the Genetics Home Reference, I started learning a bit more about this specific MYH11 gene and its’ function:
The MYH11 gene provides instructions for making a protein called smooth muscle myosin heavy chain 11. It belongs to a group of proteins called myosins, which are involved in cell movement and the transport of materials within and between cells. Thick filaments made of myosin, along with thin filaments of another protein called actin, are the primary components of muscle fibers and are important for muscle tensing (contraction). Smooth muscle myosin heavy chain 11 forms part of a myosin protein complex found in smooth muscles. Smooth muscles are the muscles that line the internal organs of the body, including the blood vessels, stomach, and intestines; as part of their normal function in the body, these muscles contract and relax involuntarily.
Then there’s the HEALTH CONDITIONS RELATED TO GENETIC CHANGES TO MYH11:
- Familial Thoracic Aortic Aneurysm and Dissection
- ACUTE MYELOID LEUKEMIA
As I mentioned previously, I already learned about the cardiac implications of this gene mutation, but LEUKEMIA?!?!?!
My heart and my mind instantly started racing. I thought about how I have had unexplained all-over body bruises for the past 7 months that none of my primary physicians have had an answer for. I thought about my lethargy. I thought,
It’s Friday night, I can’t call my geneticist. So I e-mailed him in hopes that he will reply as soon as Monday morning rolls around. But in the meantime, here I am. No, I’m not a doctor. Yes, there could be a good reason that this risk wasn’t mentioned to me.
I can’t help but think now… being proactive in your own healthcare can be both a blessing and a curse.
Until Next Week,
Photo Attire: honeyz.com