When you can’t live in denial any longer

This morning, I had my first appointment with my high risk OB at Maternal Fetal Medicine. It was…a lot. While this is my 4th pregnancy, it is my first time being considered high risk, mostly because now, we know what we are dealing with.

I had a thorough and complete ultrasound for the first 45 minutes or so. Then I had an amniocentesis done this morning for the first time. Pain wise, it was fine, it wasn’t that bad, but then again, I have an unusually high pain tolerance, and have endured something like 12 orthopedic surgeries so far. So, comparatively…it wasn’t that bad.

After that, we (my husband took the day off of work to be there with me) spoke to the doctor and went over a few things. Because me and my 2 children have a severe, progressive neuromuscular disorder, we have a lot of usual things and complications arise that we need to constantly be managing. I’m so used to living in a world of denial about all of this, but I really can’t anymore.

As a kid, my medical needs were neglected. I was misdiagnosed and treated under the umbrella of Ehlors Danlos Syndrome, and we managed issues and complications as they arose. I got my (correct) diagnosis when my 5 year old was 2, and he went through genetic testing for the same symptoms. My 3 year old has it too.

The gene that has ruined all of your lives is the BAG3 gene. It causes Myofibrillar Myopathy type 6 (MFM6) and it typically kills kids before they’re 10. 20, if they’re lucky.

The disease is brutal. It sucks, and it has taken a lot from me, personally.

Today, the doctor used words like “progressive” and “deteriorate” and “won’t go back to the same level of function”. It’s hard hearing those words spoken about me. She said things about me that made sense. That fit. And the more they make sense, and the more they fit, the more it hurts. The physiology behind it all, the why, why I am the way I am physically….it just all makes sense.

Being misdiagnosed for so long…I just thought things sucked for me, but it just was what it was. I could deal with EDS. It wouldn’t kill me, it wouldn’t kill my kids.

Each child I have has a 50/50 chance of inheriting this brutal disease. We know that 2 of my children have this. We know that I have it. And in a few weeks, thanks to the amnio thatI had done today, we will know if this baby has it as well.

MFM6 is worse. It’s different, it’s incredibly rare, and it will steal their lives. Our lives.

Our….their, prognosis is not good. We know that, with this genetic disorder, it gets progressively more severe through each generation. Something called “anticipation” of the gene…it gets worse and more severe each time it’s passed on. Since my children have severe symptoms in early childhood, pretty much right at birth…..

They are not expected to live long. I will be blunt about it.

I have lived in denial about this for a very long time. “They’re fine.” “It’s not real, it can’t be the right diagnosis.” Or “well….I’m not dead yet, so they’ll be okay!”

But I know I can’t do that anymore. Because each time I go to these appointments, I get more answers. Yes, I’m not dead yet, and I’m lucky not to be. But we know it gets worse as it gets passed down. They are worse.

This baby might be okay. Or he might not be.

This might sound fucked up, but I’m not sure what I’m hoping for more. Of COURSE, I want him to be healthy, without the defect on his BAG3 gene. But…what would that mean for him…that he has to watch his 2 big brothers die? That he will get to experience life in a way that none of the rest of his family members did?

It is what I want. I want him to be genetically healthy. But I worry he will carry the guilt of that, and the pain of that. That he will be “different” because he is “normal”.

Again, we don’t know yet. We won’t for a few weeks. And I am scared. I don’t want to lose my children. I don’t want them to die. I’m terrified. I’ve never been more terrified of anything in my entire life. I just want them ALL to be healthy, to be okay. But they aren’t.

It makes sense. The diagnosis fits. The symptoms line up. Just because it’s rare doesn’t mean it isn’t real. It is. And I can’t keep…hoping otherwise.

At least 2 of my children will very likely not live long enough to have their own children. And even if they do, should their children be affected by this, it would be catastrophic.

I’m scared, and I’m sad. I neglect my own health, and it was made very clear to me today that I cannot do that. I can’t continue to push myself. My heart is weakening, as are my muscles. I drop things, I run out of energy after 2 minutes of activity…I am not okay. Physically, I’m not okay.

And I need to learn how to be okay with that, even if I’m scared.

7 thoughts on “When you can’t live in denial any longer”

    1. It’s like living a life that isn’t real sometimes. Like, it’s so far fetched, it can’t possibly be real…but it is.

  1. Wow I had never heard of this, so I cannot begin to imagine how it must be living with this and with the knowledge they may not outlive you. 😔 I’m so sorry to read this and of course I hope they’ll find a miracle cure soon. Which I’m sure they probably won’t, but still, no one wishes this to anyone. At least I know I don’t. 🤗
    I hope your baby won’t carry the gene. I hope your other kids will be able to be your family for a long time to come.
    I understand that it’s scary and hard to deal with. While I have no experience with this, I do offer my listening ear or reading eye in case you ever just want to vent. 🌻 Wishing you much strength and loads of luck 🍀 and love ♥.

    1. Listening is often enough, thank you. ❤️
      I hope it all works out too, and I hope this little one isn’t affected by it. I guess whatever it is, it is. Even if that sucks.

  2. Oh my, I literally teared up when reading this post. I’ve read your previous posts regarding this pregnancy yet this just really strikes a cord.
    I can’t imagine what it must be like for you! Knowing the reality about how this gene gets progressively worse as it’s passed down.. and now all the emotions when you will find out your sons fate.
    I am sending you my warmest vibes and prayers ❤️

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