Tuesday, February 28, 2023

Rare Disease Day 2023

For Rare Disease Day I shared some new thoughts and pictures to my social media platforms. Of course I'm posting them here in my journal as well. Camila I love you and miss you.

 
In case the words are too small.
Picture 2: 
3 months ago my sister died from complications of HDL2 (Huntington Disease Like 2)
- HDL2 is most closely similar to juvenile Huntington Disease but it cannot clinically be diagnosed as it because the mutated genes are different between HD and HDL2.
- It's almost as if they don't know what to call it. If you google HDL2 the first thing that pops up are tires. They call it a look alike disease because the symptoms are so similar.

Picture 3: 
It can be described as having Alzheimers, ALS and Parkinson's disease all at the same time. One big difference is that usually those with HD don't get symptoms until you're in your later adult years (anywhere between 45-60s). This starts in your 20s (Not in your 30s like I have said in the past).

Picture 4:
Camila getting her diagnosis was a miracle in itself. My parents were living in Europe when Camila's bio aunt found their information and reached out asking about her. My dad told her how she wasn't doing well, losing all her abilities and no one knew how or why. Turns out Camila's mom passed at 25 from the same disease and her grandmother also at the same age and symptoms.
Until then their doctor in Brazil just called it a mystery disease. Those emails led to genetic testing for HD and were surprised when it was negative for that. After further testing they found the right chromosome that was mutated and came to HDL2.
Camila getting her diagnosis gave us some answers and also gave her bio family answers to questions they've had for several generations. After Camila passed I learned that no one in her bio family line who had it lived past 27. Camila died at 39.

Picture 5:
In this picture she could still say a few words like yes, no, baby and kids. She could still walk, just not very well. She could still eat (small soft bites).
My favorite thing is that she still knew who I was. She would point to me and try to say sister.
Two months later she didn't know who I was anymore. And then Covid hit.

Picture 6:
When the world shut down so did visits to her care center. I didn't see her again until June of 2020 when they made an exception for our family to see her. They called us and told us to say goodbye, that she wouldn't live through the weekend. In the 6 months since seeing her she was now wheelchair bound, couldn't talk at all, and could barely hold up her head. She ended up pulling through and lived for another two years.

Picture 7: (A quote I found and loved)
It's easy to look back and question decisions you have made in the past, but it's unfair to punish yourself for them. You can't blame yourself for not knowing back then what you know now, and the truth is you made each decision for a reason based on how you were feeling at the time. As we grow up, we learn and we evolve. Maybe the person you are now would have done things differently back then, or maybe you are the person you are now because of the decisions you made back then. Trust your journey; it's all going to make sense soon.

Picture 8:
I think about the time when I was 22 and I invited my friends to come camping with my family. Every Labor Day weekend my parents would rent some cabins and this year I was excited to bring along Megan and Britney. We stayed up late playing Wearwolf and I remember getting so annoyed at Camila for keeping her eyes open the whole game even when she wasn't the wearwolf. It's such a stupid thing now when I think about it and I remember also feeling a little embarrassed that she wasn't playing right. I was seriously so dumb. The truth is that it had nothing to do with me. She literally could not grasp the concept of the game and it makes me wonder how many other times there were for her where she was in a setting with no clue what was happening. Thinking now makes me feel sick to my stomach of how much of a miracle it was that she even drove there in the first place.

Picture 9:
Which then takes my mind to wondering what it must have been like for her to drive to any place. Near or far. How many times was her mind in a fog trying to remember where she was going? I'll never know. Were those drives quiet? I try to picture how my own kids act in the car when we are going places. Was she ever frustrated by her kids possibly asking her how much longer or where are they going?
My parents used to rent out a skating rink every January and we did this every year for a long time and yet Camila would act like she had no idea where the rink was. I remember being on the phone trying to explain how to get there but she was so lost that by the time she got there it was pretty much over. She didn't even live far from it.
How were her kids in the car during that drive? These are some things I think about at night. Was she calm and quiet or was she loud and frustrated as I probably would be? I think about the version of her that I grew up with and feel sad that her kids didn't get the version that I did. Why did I never try to get to the root of why she was slowly changing until it was too late to do it? I wish I could go back knowing what I know now. I have so many questions that I would ask.

Picture 10:
I wonder why she never said anything to any of us about what she was going through. I keep coming back to two options. Either she could tell she was slowly losing her mind and maybe that terrified her to think she was going crazy and didn't want to admit anything out loud for fear of judgement or people not believing her at all. Or maybe she was naive to it and didn't realize that she was forgetting things or that life was changing. Both scenarios make me sad. I worry that she lived feeling so scared for herself. Maybe a part of me would rather the second option where she didn't know what was happening but I know deep down it's also because that would explain why she never talked to me about what was going on. Because she never did. Not once.

Picture 11:
November 2021. A year before she did. Her hands were stuck in that position. Her neck was stiff. Her body would sometimes twitch. This is the ALS and Parkinson's part of her disease. Add in dementia and this disease is one of hell.

Picture 12:
My dad might be a literal angel. I'm forever thankful for all the FaceTime calls he would do so that I could still 'visit' her after I moved.

Picture 13:
I feel like that was a lot shared and maybe it was all over the place. HDL2 is awful. Camila was the best big sister. She was funny, positive, inclusive, and I was blessed to even know her.

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