A little something to think about.

Every now and then I blog post when I need to vent. Looks like I haven't vented in a while so here I go. But, I've had a lot on my mind. Lucy has been sick. And when I say sick, pretty dang sick. She's still struggling with it. But, she's a whole lot better now. Poor girl needed a lot of help with her oxygen needs. She was out of it and sleeping for days. I literally thought is this the illness that will take her? The thought crosses every parent in a similar situation. I knew this virus would be bad. This virus took her to the PICU 3 years ago. It took weeks to get out of her system. And now as I see this year is a bad one for the nasty viruses. I worry for my Lucy, I worry for my friends. What a sucky thing to have to worry about.  I have to think about scary out comes. I absolutely have to, because when you have a kid like mine, it's the future. I was teaching Dawson school yesterday about the organs in the body and how they work. Somehow I ended up explaining Lucy and then I gave him the talk about Lucy. I've tried to explain this a little before. He was just too young to really get it. Soon he had tears running down his face. I did too, and we both cried for a bit. I told him to always be grateful for his sister. It's been a blessing she has been with us for 5 years so far.  I told him how I've felt bad that I have to home school him to protect her from germs. He really doesn't mind and tells me he would rather be home and learn. He is very social, so I have felt bad he is deprived in social interaction. I told him how I felt bad that when he was little I had to really concentrate on Lucy. When he was 2 and 3 life was a blur. I wish I could've spent more time with him. The positive is that my parents have a very close bond with him. They're his best friends, he absolutely adores them.  They have been there for us when I needed them. I would be in a really hard spot if it wasn't for them. My support system is small which has been difficult. I'm so grateful to my parents that they help us. I was grateful that this last week Rachel and Lori brought by dinner. It helped a lot, thank you so much!
Lucy's oxygen needs have been a little rough the past couple of nights, but the virus is nasty and can cause some issues even when the worst has come and gone. We will just have to work through it until it leaves. The important thing for me is to carry on like normal. I'm ok, I don't like pity parties. I enjoy going out so I can distract myself. I think when you stick yourself at home it doesn't help. You have to get out even if it's for a few minutes to recalibrate.

Do you have New Years resolutions? I don't mind having new goals or even old goals to work on. Mine is to continue to work on being a better version of me and not worry about what other people think. I'm taking out toxic surroundings whatever they may be. Let go of the bad or harmful in your life. Don't let other people pull or put you down. Surround yourself with upbeat and positive people. Everyone has a bad day, but don't let them lead your life.  This is my advice to myself and to whoever else agrees.

I've seen and experienced a lot since Lucy. You really see the big picture in life. She is a tough sweet little girl. I have experienced disappointment with her challenges. From what has happened to her body along with the actions of people I've loved around me. I'm working on not being bitter about this, but it's hard. Since Lucy's duplications hasn't really matched how her body should be working, we have gotten another test that I hope to get back soon. It can take 4 months, so I will learn to be patient as usual. It may show she has more going on or it may not. It provides an answer for me if it shows more or not. I'm very excited to hear back what it says. I wouldn't be pursuing this so much if it wasn't for her unique situation. I learned she had a Xq duplication when she was only a couple weeks old.  From my understanding it's so large you can see it under a microscope. But, most of it was shut down from her normal X. So, why is she so severe? Did she just copy too much? Did the little parts left active cause this havoc? Or do we have something somewhere else hiding? That's why I'd like to know.  I find genetics fascinating and like to learn about all of it. It doesn't scare me anymore. This girl has been through the ringer already. I want to know all I can even though it doesn't change anything. It might help someone some day. No research for any disorder would ever be done if we just sat there without pursuing why. I am already so far down the rabbit hole, I have to find out as much as I can with the testing that is out there. And if you're a young family, you should find out in case you want more kids. Right now we don't, but if we ever did I'd like to know if something was carried anywhere. It would be pretty shocking if we did, but you just never know.

Hoping for patience until we get more answers. I pray that we get through this virus season. I'm scared and so are others. Pray we all get through this season 🙏.

Adventures in Lucy town

Well, I clearly suck at blogging. I figure now is a good time to post.
Lucy is sick and her heart rate hasn been higher than it should. I wondered if it had to do with the meds we are weaning her from or what? She does have Adenovirus, but I've never seen a virus give her this issue for over a week. The theory of her being dehydrated while being sick is what the doctors think. Her iv is helping I've noticed. I'm home tonight while Lucas stays over night. It's hard not to be there, but I need to be with Hewson still for feeds. Plus I'm attached he's attached and I am not ready to be gone from my baby over night unless I really have to. She has family and daddy with her tonight so it's ok. I really demand control over everything with her. I have been in constant contact with what's going on. So today we did an EEG on her to see if that has any clues. Um so who walks in? Her old neuro! I thought I time traveled to the dark place in December 2011 when he first walked in our room for seizures. Yeah... So, I don't care for him. He left the hospital and I guess now comes every now and then to help. He couldn't even remember her at first. He was her neuro for almost 2 years. I feel like I sassed at him telling him he better remember who she is. What a dork! He did end up remembering her, but I think he's still a dork.  You know what's funny? The ER is so weird about parents giving routin meds. I finally convinced them. I brought them with me and showed them. They forgot to order them, so I said I am going to do it. They let me, but sent in a pharmacist to look at what I gave. Are you seriously kidding me? Yeah, um dumb. See I always get annoyed!
The good thing is that Lucy was placed in red category at the ER. Meaning she gets to move to the front of the line. That really was nice considering a lot of people came today.
Something I never really thought about is this. I guess a lot of teenagers came in I don't know the times.  I guess they are depressed and suicidal. So they were being checked in the ER. That also breaks my heart. I wish people were happy, but this life can be hard and body composition, hormones, you never know what's going on with someone.

That's it for today, thanks for reading. 

Faith

I think it's time I finally share my birth story of Hewson 😊.

Deciding to have more children was a very emotional process for me. Terrified of what happened and also hope from my first child. One child with a perfect birth and another to terrify any family. I had to rely on faith and take a leap. I was in a really good place emotionally and physically again. I wasn't going to have anymore kids until I reached it.

In August we took the family to Bear Lake, Lava Hot Springs, and then Yellowstone. It was over my Birthday and Lucas's Birthday. I noticed I was a couple days late and thought I would buy a pregnancy test in West Yellowstone. It's funny because you have to ask the cashier for a pregnancy test. They have them locked up in the front. So, I bought the test without telling Lucas I was even late. We picked up a bucket of KFC chicken, it was Lucas's bday so it was his choice of bday meal. We headed into the park and traveled to Mammoth hot springs. Up there I decided to take the test. And surprise! I saw the two lines and knew I was prego. I headed back to the van and put the test on the cooler in the back. I told Lucas to get something for me in the back. He got his surprise birthday present 😊. We were excited and then I got nervous. I took a while in scheduling my Ob appt. I wanted to forget about the past. I didn't want to see anything the reminded me of my nightmare. I love Lucy, but everything I went through was seriously a nightmare. I won't sugar coat it, I went through hell. I didn't want to go through hell again. You see for those of you that haven't experience having a special needs child, count your blessings. It's hard, you mourn your child and what could have been. Do not ever take for granted your healthy children.
Going to the appt my Doctor was scary, but all looked well. Each appt went great and at my 20 weeks appt I was nervous. Please tell me everything is ok, and sure enough everything looked perfect. And the baby was a boy! That was a relief to me. I feel like I would've panicked if I was told it was a girl. PTSD would have swept right in. At my 27 week appt I asked my doctor about a vbac. He was very much against it telling me it's awful and how a c section was so much safer. In the end with all his scare tactics I soon realized it was more because he likes his schedules. That's ok, I understand that. But, for me I needed to have my chance again. I knew it would be better for me and the baby if I had a vaginal birth. And I did a lot of research. And honestly bad things can happen either way. So, I don't understand why a c section was deemed so much safer when it's not.  I have questioned doctors so much and have seen them make mistakes since having Lucy. I question everything now and often rely on myself to make the choice on what's best. So far it has not let me down. You have to take away the fear and have faith. Praying about what is best. Do not hesitate once you find the answer no matter how scary it may seem.
So, I switched doctors. I couldn't believe I did that at first. I was so glad I did in the end, oh how grateful I am. Honestly I was already upset with my doctor at the end of my pregnancy with Lucy. He said a few things that weren't professional and he never checked on Lucy in the NICU. He never checked up on me knowing full well I had a child with problems AND that I was personally struggling. I was upset and knew he was a good doctor. He just doesn't have a lot of patience when he's stressed out. Part of me didn't want to deliver at Davis again anyway. I know where the hidden door is to the NICU. I squirm whenever I have to go to the maternity area for births for family members. I needed to start fresh and somewhere new.
In the end I switched to an amazing doctor who never tried scaring me. And delivers at McKay Dee.

At 34 weeks I had contractions that lasted all night. That night I knew that this little guy was going to show up earlier. I was feeling so tired in the coming weeks. I could just nap all day if I could. I had another night of contractions around 36 weeks. Again lasted all night. I told Lucas don't be surprised if Hewson comes in the next week or two. At my 37 week appt I was checked and dilated at a 2. The next day I was losing my mucus plug all day. And then I started to notice a little trickle. I was wondering if I my water was leaking, it couldn't be could it? I almost went in, but Lucas wasn't home and wasn't going to be till late. I decided to go to sleep and see what the next day brought me. By afternoon the trickle came back. And then I noticed a bigger trickle and then walked up the stairs and had a stream come out. I knew it was my water. Luckily Lucas came home from work earlier that day. By the time my parents came I had stuffed my pants so I wasn't leaking everywhere.
A steady stream just kept coming and sure enough it was my water. And more water just kept showing up. By the time I was hooked up and I wasn't dilating much. It was discovered I had another bag of water leaking. I was told you can have more than one bag of water, weird huh? Sure enough I did and after that broke I went from a 3 to a 7 within an hour. In the next 30 minutes I was ready to push. I pushed 4 times and got him out in 2 minutes. He weighed in at 8lbs 6oz and 20.5 inches long. Exactly the same size as his brother. He just came 9 days earlier than his brother. He was born at 37 weeks 4 days gestation. Had him just before 1 am on April 18th. Everything was great, I was able to do skin to skin immediately. I was never even given that option with my first. So, this was heaven to me.  I had a perfect delivery with him. I only took Motrin at the hospital with him. I didn't need big drugs and I came home feeling great. I trusted myself and took a leap of faith. I was able to have my perfect pregnancy and delivery and I am so grateful for it. My body is not broken. I felt broken after what I went through.. I really did and I needed this.
Sometimes our only option is a c section. And that's ok, I'm grateful I could have one to safely deliver my daughter. Sometimes it's not the only option and you should be given a choice. No matter what happens do your research and pray about it.

I am so thankful for this beautiful boy.

Defy gravity

I decided I needed to do a blog post for what I wanted to write down.

Lucy, had test results come back for the X inactivation test. The test shows the amount of duplication/triplication in her body. The results showed that she mostly shut down the duplication. However, we do not know about how much Mecp2 she has. Genetics wanted to do another test called Exome sequencing to do a thorough check of all the chromosomes in her body. I told them I really thought it's because she has a lot of Mecp2 in her body. Now, you may be completely confused about what this all means.
I have explained this to a lot of people, but I see the deer in the headlights look they give me. I know it's very confusing.
So, Lucy has a duplication on the long arm of her X chromosome from 22-28. She also has a triplication on part of 28. She has a 50.4 mg duplication and a triplication of 3.5 on 28.
That is a HUGE amount copied. Now, as a girl we have 2 X chromosomes. One shuts down the other when we are born. The same can happen if you have a duplication. So, often times if a girl has a duplication she can shut it down and be relatively healthy. With Lucy she also shut down most of the duplication. Now, my theory is that she didn't shut down the triplication on 28 where Mecp2 is present. If you have too much or too little of this it makes your whole body go out of wack. We all have it in our bodies. It's just most of us has the right amount so we don't have problems from it. If you have too little you have Rett's syndrome. That happens in girls, boys don't survive. If you have too much it's called Mecp2 duplication. Now, that mostly occurs in boys. The reason being because they don't have 2 X chromosomes. It cannot be shut down with the Y chromosome.
The next step for Lucy is to do a Mecp2 test to see how much is in her body. Insurance wanted a further explanation on this. We are hoping it will be approved. Lucy's blood has been sitting in the lab to be tested since June. It's been a long process with people not staying on top of all the paperwork. I've had to nag nag nag.
I have done a lot of phone calls and emails to find out more about the X inactivation test we got results on. It wasn't clear on what cells were shut off and left on. But, we do know mostly her cells are normal.
I got an email from Dr.Zoghbi. She is the reason why we have hope in finding a treatment for Rett's and Mecp2 duplication. Just google her and you will see how amazing she is. She told me that even a little bit of a change with a duplication can neurologically change things. Since we cannot test the brain we cannot say what happened there. Her theory is that it's the Mecp2 levels that have made her this way. However even with the other cells she could be having problems from this. We cannot pin point and say what those would be. But, we obviously have the evidence that Mecp2 can make these results happen unfortunately.
Once we can get that Mecp2 test done that may give us more clues. I pray insurance will cover it, otherwise it's 500 dollars. No matter what we need to know.
Dr.Zoghbi said that without a doubt Lucy would greatly improve once they can get a medicine out. They are so so close you guys. They have sent their findings to be published. That can take months or up to a year. I cannot say what the findings are, I was not told specifics due to the sensitivity of the project. But, what I was told gave me such hope. I won't even post the little info on that I heard. I don't want to jeopardize anything in their research and blab on the internet.
This is from the 3 year study I raised money for last year. So, thank you to those that donated to that project. We are currently doing another one that is 2 years as well. I was told that could help bring a medicine quicker on the market. So, I'm excited we have more than one project to help us reach our goal. The 2 year needs a lot of money still. If you want to help with any fundraiser ideas please let me know. If you like to shop on Amazon, go to amazon smile and choose Rett syndrome research trust as your charity. It gives some money to Rett's syndrome and Mecp2 duplication. It doesn't cost you anything! It just gives some of your purchase to a charity, isn't that awesome that amazon does that? If you choose the charity it saves it so it will donate each time. Just make sure you go through amazon smile first :).

I admit that I felt heart broken a couple days ago. I felt as though my child was almost normal. If she didn't have that triplication where Mecp2 is. It was too much too shut down. I felt like she was so close..
But, then after reading Dr.Zoghbi's email it made me think. Lucy could have not shut down the area and she wouldn't even be alive. I may not have been able to meet her. This sweet girl has a huge amount in her little body and yet she fights. She fought through as a threatened miscarriage.  She fought through when her body was growing behind in the womb. She fought through a 7 week NICU stay. She fought through Infantile Spasms, Hydrocyphelus, G tubes, Collapsed lungs, and countless hospital stays. She cannot even lift her sweet head, but she let's us know she wants to be here and is even smiling as I type this.
Some parents may just give up after a diagnosis. Some people may question why I keep fighting. I fight because she fights. She is my child and I will not give up on her. We have real hope for her with what they are doing in the labs right now.  To improve her quality of life by just 20 percent would be huge for Lucy. I want to help her as much as I can!
If you are LDS and reading this it even says on the disability page to find out all you need to know about your child's condition and to help them.
I don't care anymore about what people think. It may hurt being shunned by those I love.  I've made a saying and this is how it goes. You find out who really is there for you once you have a child with disabilities. It's so flooring and shocking to me, but it's a bigger loss to them than to me. How unfortunate it is to feel like I'm wearing the Scarlett Letter for taking care of my sweet medically fragile child.
The other day I honestly thought to myself that I really don't give myself enough credit.  And I was having my own Ah ha moment.
"Some things I cannot change, but till I try I'll never know."
Why not defy gravity? I love the musical Wicked. And I think of Lucy whenever I hear the music.

We will defy gravity Lucy and we will fight for that medicine.

Unwind

Lucy will be turning 3 on Saturday! We are so excited! So much has happened in just 3 years. A major growing experience. And a growing up experience. It's actually insane to think about. You never know how life can take you off the yellow brick road. You are walking happily and then bam! Those monkeys throw you off that road onto unpredictable road. Seriously it happens. Then, every now and then you find the yellow brick road again and carry on your journey.  I felt for a while those dang monkeys were turning into flies that just won't leave you alone. Well, I found my fly swatter and smashed them to bits. Answered prayers with life saving treatments. Lucy got our little cold we were sharing. And she actually got over it! First time in so long where she didn't need to be rushed to the E.R. What a blessing that was for me to see! This time of year I hate so much now. I know the dang germs that come out. And I'm so not in the mood for it. Last September and October were very rough. So, I'm hoping that they will be kind this year.
I went on FB for a few days to share a message my husband directed. In that time I saw why I was taking a break from FB.  FB drives me nuts these days, I love so many people on there. But, I see too much negative outlooks on lives. I know how hard life can be. Boy do I know that! But, it's not healthy to live in constant sadness. It doesn't do any good to you or your family. If you are feeling like life is so hard take a time out and do something for yourself.  Pamper yourself, ask for help. Just do it, we all need TLC!  Do you expect a garden to grow if it doesn't get water or sun? We as humans need that too. Take some time to recoop, I recommend it!

Fun trips and glasses

We had some fun recently going on a family vacation. We went to Bear Lake, Lava Hot Springs, Island Park/Yellowstone.

We had a great time and went over my Bday and Lucas's Bday. Bear Lake wasn't as fun as we imagined so we left earlier to more fun. Lava hot springs was really nice and hope to return in the future. Island park/Yellowstone is my home away from home so I loved it. Except our tire got a hole in it. It seems that lately when we go up that way we have something happen to whatever car we are driving. It's driving me nuts! We did have some fun in the park with fun surprises. Dawson loved the buffalo. He loved feeding the fish at Big Springs. I love walking on the trail there. Lucy did a great job and had a good time too. We did go to Soda Springs on the way back. My friend is from there. It has a man made soda geyser and a carbonated spring. It tastes like club soda and it's safe to drink. 

We plan to go up to Yellowstone again this month since our time there was cut short from the tire issues. Plus, I like to go when the rut begins and the elk fight. More bears are out since hybernation happens soon. They come out lower elevations to get food. 

We found out Lucy's vision has improved and she is near sighted along with a little bit of cortical visual impairment still. Lucy got a prescription for glasses! I just ordered them and am so excited for her to wear them.

Fun days

Yesterday we went to the Syracuse Fun Center. I think called "The Rush" or something like that. We had some fun and it wasn't crowded. Lucy actually went laser tagging with us against some other kids and parents. We staked out the best position. Our team won and I won the overall points. I felt pretty awesome. Lucas's laser gun went out so he felt a little jipped. I never thought I'd say that Lucy went laser tagging lol. We had a great time and enjoyed our stay. Today I took the kids all by myself to pick up Lucy's meds. I forgot to get them the day before and Lucas has to work late tonight. I packed them all up and we got the meds and even some groceries! A lady that walked by said Lucy looked like a doll. I've heard that a lot, she does though. And then another lady asked me if I needed help when we got to the car to leave. I appreciate the nice people at the store today.

Dawson has been learning from the Waterford program from the state of utah. It's a free preschool program that is supposed to be really good. We went to the orientation a week ago and we started right away. We really don't have to until September 1st. It's 15 minutes a day as a requirement 5 days a week. He does more on there because it's fun for him. I've already noticed the difference and am already very proud with how he is learning in just a weeks time. Freebies2deals talked about it and so I signed up and so glad I heard about it.

I've been off Facebook for almost 24 hours! Woohoo! Haha :).

Not sure how many people will read this, but I'll be on here for now.

Thanks for reading,

Melinda