I’m a unicorn…

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It’s summer time!!! Time for heat, beaches and pool! Summer is probably the worst time of the year for me due to the heat. It’s been quite the summer! So much as happened! Who else has a hard time during the summer? Anyone have any special plans this summer?

My son has been battling a post viral rash for the last two months. He actually tested positive for a past Epstein Barr Virus infection. Like Whoa! However, his rash, It’s finally gone!! Yay! Just in time for his surprise vacation! I can’t wait to post pictures from out trip! It’ll be so exciting.

It’s been a rough few months. My feeding tube has been problematic, or more my body has been. I’ve had reactions to the formula, bandages, gauze. It’s just been alot! Finally we’re doing pretty good. I’m still about 800-1000 calories short a day, but i’m slowly improving, however I still keep losing weight. My GI team is fairly positive I also have intestinal-paresis as well. Which just makes things even more fun..Not! Lactulose and I are buddies now! LOL  I got my Mic-Key GJ button last month, it’s been alright, the only thing is, I can’t vent my G-tube. Which really sucks. I’m also pretty much tube fed at this point. My body simply can’t tolerate any foods! I do try to get some ice cream a night though, as it’s one of the only things I can semi handle.

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Mic-Key GJ
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Weight Loss

As you can see, i’ve definitely lost a good amount of weight. I think i’m down 15-20lbs. And sadly still losing it. I’ll get it sorted, i’m determined!

Now, here’s a bit of good news!!! Living With Dys, has been nominated for a WEGO Health Award!! How exciting?! I, myself have been nominated for three, so that makes 4 nominations for me. I’m amazed at it all. I feel so honored and blessed. If you’re interested, check out my nominee page: https://awards.wegohealth.com/nominees/18307. IMG_0738

How great is this? What are your thoughts on it? What would you like to see more of?

I saw my geneticist Wednesday. I was not prepared for the results that I received. We did complete genome testing. It’s been about 5 months waiting for the results. Well, boy was I surprised, well kind of not really. My results showed I have a genetic mutation in the COL4A4 gene, which controls the Collagen Type IV basement membranes. I don’t just have a genetic mutation, I have the ONLY documented case of this variant. Literally the only one. I’m not even a zebra anymore, i’m a darn Unicorn. 246x0w My geneticist point blank told me, as of now, there is NO ONE to help me. No one knows what this mutation can cause, or what it can do. They’ve never seen it before. He’s advised me to seek out Duke and Johns Hopkins Research Department if they’d take me on as a patient. I did reach out to them this morning. It’s terrifying. Being told there’s no way to help you, that we don’t even know what’s going on or what can happen. It’s just overwhelming and so scary. I have low frequency hearing loss, and hearing loss is common with other variants of this gene. I’m being fitted on July 24th for hearing aids. I’m 33 and getting hearing aids… It’s just wow.  My rheumatologist, whom I absolutely adore, felt so bad that there’s nothing he can do to help. He still feels somehow MS is involved, he also mentioned Duke or Johns Hopkins is where I need to go. So if that’s where I have to go, that’s where i’ll go. What’s scarier to me, is it looks like I’m a carrier for this genetic mutation. My first question to my geneticist was,”How does this affect my son?” My son will have to be tested, as does my mom, to see if she has a milder version of a variant, or nothing at all. The change my son has this is overwhelming to me. It’s scary. I’m determined to become the absolute best advocate I can possibly be. I’m going to make noise, and i’m going to be heard. Someone has to be willing to listen and help me! Be ready y’all. It might get loud!

Yes.fit… who’s heard of it? They do virtual races. You do them on your own pace. It’s great. Cycle, walk, swim. Any steps or movement counts! I did one recently, and completed it. It was nerve wracking, and I did it completely at my own pace. We should definitely do one together! Motivate and empower each other! Who’s with me?!

Alright… Now I want to do a few live events, talks or chats. Who would like that?? My etsy store has also expanded. How exciting? New shirts, i’m focusing on empowering and positive messages!

In the midst of all this, I’ve been really struggling with my insecurities. It’s been very hard to see past them, and overcome them. My friends have been os supportive, it’s meant the world to me. My counselor has helped me to focus on positives and do thought stopping exercises. My tube doesn’t define me, it doesn’t change me. I lost sight of that. I’m slowly finding my way again. We often can lose sight of this when struggling, it’s important we focus on ourselves and self care. Feeding tubes, ports, Piccs, mobility aids don’t define us. Using them, having them doesn’t change our identity. Our identity is not rooted in our diagnosis. So many lose sight of that, so many let their diagnosis become their identity. Hope… we’ve lost it, let’s find it! join my facebook group, “Finding Hope”. Let’s lift each other up, and encourage each other!

 

Now my beautiful readers, Go Shine. Don’t let your sparkle dull. Be the absolutely best you, that you can be!!!!

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