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.

Second Birthday Letter to Quinnie C

Dear Quinn,

Quinnie Rue my little caboose, you are two! You're quick, smart, sweet, and you have no fear which can be stressful at times but I also love how brave you are. You love being outside and you're always wanting to ride down the hills or driveways in whatever bike like riding toy you can get your hands on. You want to be on the go and you want to be fast. If it wasn't so stressful for me it would be a lot of fun to watch haha. Instead I'm trying to catch you to avoid any scrapes or bruises that I see heading your way. I love that you keep me on my toes though. 

You are also an amazing hugger. You don't even go to bed without making sure that every single person has been given a hug from you and then you tell them 'night night' and it's the cutest thing. You're not even doing it to prolong bedtime or anything it's honestly because you really do want to see everyone one last time with some loves before going to sleep. It makes me smile for sure. You love to climb things which also stresses me out but that's just another small example of how daring you are. I would say that as adventurous you seem to be you are equally all about girly things. You love dresses, your hair done, and pretty bows in your hair. You beg for your hair to be done and it's adorable. You're so much fun and I can't believe I get to be your mom. I love you so much baby Q.

Love,

Mom

Second Birthday Letter to Rylee Gene

Dear Rylee,

Rylee Girl you have been such a joy in our home these past two years. I never would have thought that a curly haired little girl would help make our family feel even more complete than it already did. You are hilarious, so caring, and a little firecracker. We all love you so much. You have definitely trying to be way more independent than I would like you to be but it's so fun watching you grow up. It feels like just yesterday you came into our lives several weeks early and you've been so strong every day since. 

You still love music so much and it's everyone's favorite when you start singing along. You're really good about keeping on beat even if the words you're using are made up words. Our attention is always grabbed when you start singing and we'll just watch you with proud looks on our faces. You're a little star and you know it.

You give amazing hugs and I hope that doesn't stop because I plan on accepting those for the rest of my life. You have an amazing heart and you genuinely want everyone to be okay. I happened to be holding you in my arms the moment that my sister died and it was your hugs that made anything about that moment feel okay. I love you so much sweet girl and would be so lost without your sweet spirit in our home. Happy birthday Rylee Gene, my little namesake baby.

Love,

Mom

"You Okay?"

These videos are from tonight when we were putting the birthday girls down to bed. This interaction was between Quinn and Danny and I just had to record it. She was being so funny and this moment felt so special. I want to make sure I don't forget it.

"You Okay?"

"Twincess' Birthday Girls

My babies are two!! Also I should probably stop referring to them as babies because they're full on toddlers these days. I think I say this every time one of my babies turn two but this time it's different because these really are my babies. My last ones. I was almost eight months pregnant when Addie turned two, I already had an almost five month old when Hudson turned two and I got the positive pregnancy test the day that Grant turned two. These twins have been the 'babies' for longer than any of their siblings got to be and it's surreal to think about. We are definitely done so don't get my emotions confused with that haha but it's a little sad to think that their lasts will really be the lasts. Goodness I love being a mom to all five of them. Today I'm excited to celebrate these two though.

ALL ABOUT RYLEE

Her Favorite Foods- All fruit, Ramon Noodles, Avocados, Cheese and French Fries

Her Favorite Shows- Bluey, Mickey Mouse
Her Favorite Songs - Twinkle Twinkle Little Star, Wheels on the Bus

She Can - Ride her scooter, climb stairs, jump on the tramp, sing

She Weighs - (This current pediatrician doesn't update us with their stats) 

She Stands - 

Favorite Toy - Scooters, Baby Toy Stroller, Stuffed Animals (especially her bunny), Anything Quinn is playing with.

She Loves - Quinn, Coloring with Markers, Being Outside, Painted Toes, Buc'ees
She Dislikes - Getting her hair washed, Not being able to buckle herself

ALL ABOUT QUINN

Her Favorite Foods- All Fruit especially Bananas, Cheese, Avocados, and Ranch Dip

Her Favorite Shows- Bluey, Mickey Mouse
Her Favorite Songs - Twinkle Twinkle Little Star, Popcorn Popping

She Can - Ride her scooter, climb stairs, and dance

She Weighs - (This current pediatrician doesn't update us with their stats)

She Stands - 

Favorite Toy - Scooters, Baby Dolls, Stuffed Animals (especially her bunny), Anything Rylee is playing with.

She Loves - Rylee, Bath Time, Having her Hair Done All Cute, Painted Toes, Being Outside, Buc'ees
She Dislikes - Not being able to buckle herself and going anywhere without her bunny

Rylee is reserved and cautiously curious. She's a mama's girl and gives the tightest hugs. She loves being independent and wants to do everything herself. It's admirable but not so fun when I'm rushing to get Grant out the door and to school and we have to wait for Rylee to do her own buckle in the carseat. Rylee is the first to ask if someone is okay and will freely give kisses if they're not. She loves to sing along and will make up her own baby words and does so while keeping along with the actual tune. It's pretty cool.

Quinn is sweet, obsessed with her stuffed bunny, won't go to bed without first saying night night and hugging every single person, and is a lot more daring than any of her older siblings. She really wants to take a bike and ride down the hill in the field near our house. We're always catching ourselves having to save her from causing some serious harm because she's either going to fast or is up too high. She's fearless. Until it comes to anyone outside of our family. Strangers or not. It takes her a moment to really warm up and show her personality with them.

Both girls LOVE Buc-ee's, Bluey, riding scooters and just being outside. Happy birthday sweet girls. I cannot believe you are two years old. 💛🤍

We opened some gifts after getting home from church. Addie, Hudson and Grant all gave them some of their old toys that they thought the girls would like. They got some books from Oma and Opa and their own little table and chair set from Grandma and Grandpa Ferguson.

Quinn

Rylee

After getting dressed and some relaxing we then spent the rest of the day outside with their new scooters and then playing in the field. It was pretty windy but they didn't care about that at all.

It was when we walked to the field that I really pulled out my phone and tried to capture everything they were doing. I'm a big fan of them.

Their favorite neighborhood cat.

Facetime with Oma and Opa

Addie wanted to be in charge of all birthday decorations for their birthday so she handmade these herself. They've been taped to our walls for a couple of days now and I just love how Addie shows her love towards others. She's thoughtful and puts her heart into her actions. What a cutie.