Santa is coming to town

Or well rather we went to Santa...
Last night we made a spontaneous trip to see the celebration of lights, which happens about 40 mins away from us. We went the first time when we first moved to this area, I was very pregnant with Sol, and neither of us can remember how we knew about this but I think it was one of those deals where we just stumbled upon it, even if everyone else in the area knows about it. Anyway, the last three years we have gone to it. It is nice because you can drive through the park and see the light display, I think you can walk it but most drive it, which works perfectly for our family! Then in the middle they have a building set up where you can see Santa. The first year we went, we probably waited in line for a good 20 to 30 mins, mostly Outside, in the cold, in december. It was awful. May did enjoy it though, because that year they had the deer out back that we could look at while we waited. Last year, Sol was just recovering from being sick when we went, and there was no way we were going to wait in line with him for that long in the cold. This year, we went on a night that wasnt free so luckily we didn't have to wait! So we were able to do that famous picture of the baby crying while being held by Santa... It is the little things that happen that help you feel like you are doing the whole normal family thing.  This picture is my favorite! 

This picture reminds me of a similar picture his sister took at his age, or well I suppose she was a little younger than him. But I love it! 

Sometimes it seems silly to want those typical moments with our family, we aren't a typical family so it shouldn't be something I have the need to dwell on, it is unfortunately, but many times we never really do get those typical moments anyways, so when we do find ourselves stumbling upon them it gets pretty exciting!
This year has definitely been a better year than it was last year. Sol is getting a little easier to do things with and he is getting stronger, which makes everything better. Sometimes it hurts to see how well Sol is doing. That confirms what I thought with Lua, if she were to have gone to madison she would be doing just as well as Sol. I try to quickly get out of that mind set, although, because I know it still doesnt take much to send Sol to the hospital or maybe make it so he isn't even able to make it to a hospital. I am just so grateful for this year and all of his accomplishments and his hard work. He is one determined, feisty, opinionated, little dude and I love it. I never thought he would take so much after his sisters! Especially that oldest one there!   

Neuromuscular clinic 2017

Last year was our first year at this neuromuscular clinic which includes Many many many doctors, that we get to see all out of one room. They come to us and we get to just hang out in a clinic room. It is perfect for us so we don't have to keep going to Madison over and over, and also because then we don't need to pack everything up and run to a different doctor through the day. Last year's clinic was really great, gave us a lot of ideas and updates as to where Sol is at and we got new doctors in the picture at last years clinic. This year also did not disappoint us! It tends to be a very long day, with waking up at 5 am, (after going to sleep at 3 am because Sol decided to not sleep the night prior >.<) and then not getting home until after 6pm. Whew, but it was worth it this year.

We are starting to have a really solid understanding as to what Sols (and Lua's) genetic condition is/was, which is great because we know better how to treat it. There are still a lot of unknowns, technically speaking, Sol, well technically technically Lua, is the first to be seen with this type of mutation creating this type of condition. Lucky Us! Other kids that have been seen with similar mutations in this gene have a much less severe type of the condition, meaning, many of these kids have gone on to walk, didn't require a trach, had more movement, but still they believe what we saw in our kids is the same thing that has happened it just happened to be worse, probably simply because of how the specific mutation in each of mine and my husbands genes came together.

Yes, it is annoying and unfair and crappy... but as one person has put it, we are the best at making the worst condition, hahaha so true!

Anyway, to not distract from above... Now his condition has been labeled at limb girdle muscular dystrophy 2q, genetics, neurology, they both disagree with this diagnosis because he is showing improvements. I keep getting bothered by people calling it a dystrophy just because that means they (doctors) will consider him as declining, and if the wrong doctor at the wrong time gets their hands on him and believe he is only going to get worse instead of better, that could cause problems in his care. I talked with his neurologist about my reasoning and she completely agreed. We talked about how he has been the last year and all his improvements, and to her, she has no reason to expect him to decline, at this point. She is really excited to see his development and what he will end up doing, so she decided to take the limb girdle diagnosis off of his chart and give him his correct condition name on all his charts. I just loved what she wrote up for our after summary report

To any random person, this may not seem like anything special to read, but the fact that she puts, "he will continue to gain milestones over time..." Wow, that just gets me! I think back to when I was pregnant with him and how he was going to be impossible to intubate, and possibly pass away at birth, now here we are at the point of expecting him to only continue to do well. It just seems so amazing.
Before we left the clinic, our neurologist came back and wanted to talk with us. She already found two doctors in different countries, that are working on getting trials for the plec gene! This means, maybe some day, there is a possible gene therapy that could fix his plectin gene and fix the skeletal muscle that is broken. I now have two contacts that I can reach out to and even if they don't get trials out for years, they may be able to give us even more information on the plec gene and anything else we may be able to try to help strengthen him. It was just so amazing that this possible opportunity has opened up. Last year, the same neuro doctor told us she would see it being impossible that anyone would ever work on the plectin gene because it is so rare, she did go on to admit she said the same thing about SMA(Spinal muscular atrophy) and now there is a drug to treat that. With in a year we went from nothing being possible for years to come, to this year where he is expected to continue to reach milestones (sol milestones) and a possible gene therapy in the future.

Everything else from that clinic, could not top what we talked about with the neurology doctor. No way no how. Most of the things we talked about I can't even remember because I'm still on a high from all the good news we got from neurology. Besides all the news about his diagnosis, which let me shout out about how amazing our neuro doctor is - she really has put in the work for us to figure out this diagnosis and it is doctors like this that we need on our team, she's amazing! I also asked her the million dollar question (that everyone asks)

is it possible for him to get the trach out...? 

Before I give her answer, I find it important to point out that at this point we do Not want the trach out. Yes it is annoying to have a suction machine, yes people get bothered by watching us suction him, but right now it is life saving. It helps us prevent from getting pneumonia all the time, and helps us to stay out from being admitted to the hospital every other week, so right now, No we do not want the trach out no matter how annoying it may seem to be.

She answered with, it definitely isnt off the table. He will show us what he can do, and with how far he has come with the speaking valve, she cant say that he will have it forever. So looking forward maybe some day he wont need the trach, but if he does, he does. I just really like hearing someone say maybe some day it wont be necessary, that is enough to hear.

So besides all of that, all the doctors are really thrilled with his progress, they seem him as getting stronger, smarter, and we heard many times during the day how excited they were to see what he will be doing next. His communication therapist thinks he will be a computer programmer when he grows up (since when we had his eye gaze computer he kept changing the settings on me) But that is the first time I heard anyone talk about his future that far out!

There has been so much to take in after that appointment and I wish all his doctor appointments would go as good as that one! We had a cranial facial clinic a week before this that was really not as nice as this one was. It has been a long journey, and I know it doesn't stop here with all these good reports, there will be hard times because that's life and right now we need to make sure he has exceptional pulmonary team because his current pulmonary doctor that has gotten us this far, just retired. If we don't get good support from them, that will make it hard for Sol to continue to improve. Therefore I am being cautiously optimistic and making sure we are getting the best care pulmonary wise, other wise we will have to be in search of a pulmonary doctor that will support him the way he needs to be supported. Lots of stuff floating around in my head all the time, but it feels great to remember over and over how excited most of the doctors are about him. Sure makes my heart feel good!

In just a couple of weeks we will be celebrating Sols second birthday, with a birthday party to build a bear with a couple of kiddos. I'm crossing my fingers that no one gets sick before this and we can all be healthy and rested for Sol to be able to really enjoy his day. I'm hoping for a very fun day for him because he truly deserves it. He has worked so very hard these last two years, I am so thankful that he has too <3 

in september.

I hate being the debbie downer of the blog world, but wow how september is such a difficult month!
Sometimes there is this thing that goes off that reminds me I feel very terrible. It usually takes me awhile to figure out why that is? Usually it takes looking at a calendar. For some reason, there are certain days or weeks and months, that set off depressed feelings and the end of september is one of the hardest times with the most depressed feelings. Lua got sick after a birthday party we took her to, it wouldn't have mattered if she did go or didnt because May was the one who initially got sick and passed it on so Lua would have gotten sick regardless. But it was at the end of September and then after not fully recovering, October she passed away with out us ever expecting this could happen.

Remember that feeling where you think nothing bad can actually really ever happen to you?
Only takes one time for that feeling to fade away fast! So we actually aren't invincible???

Well last year Sol got sick at the exact same time Lua did. Want to see what a freaked out person looks like?? I probably have some pictures. We were admitted with Sol around the same time that Lua got sick last year. So of course, this year I am pretty freaked out. Although Sol has been showing how tough he is at these sicknesses he has calmed me some. Except, I know how easy it is for him to not be able to fight a cold with out proper support and if anything goes wrong he could easily pass away, I will never make that mistake again to think it is actually hard for someone to die from a cold because it is possible especially if you start adding other factors to the equation. Well, we all ended up with this sinus cold this last week and Sol is still working on trying to get over his. It started out fine but now he is getting congested and when it gets to his lungs it is usually difficult to deal with, so I am still being hopeful that he will bounce back any day here. If he doesn't, I think I will lose my mind, I just cant take this time of year anymore! Last year was really difficult from september to january, I felt like we were admitted every month, and we basically were. If it is possible for us to not get sick and much as we did last year that would really be a big help!

So with all of this and all of my "Ahhhhnessss" (because I have no other words to describe?) I am at my check up this last month and find that I certainly qualify for anxiety medication. I know so hard to believe that I could possibly have anxiety! Where did that come from? Ha, I laugh to not cry :D It just becomes interesting to me what the outcome is of going through traumatic things. Daily our family can battle hard memories, we all go through it so differently too, and it is interesting to see how things that happen to us shape us and mold us into different versions of ourselves. I truly am not going anywhere with any of this so feel free to stop reading at any time, but september is such a sucky time of year i feel it deserved to have my thoughts written down about it. Ha.

Sol gives me hope though. And if he does well the rest of this month, maybe by next year it wont be as hard. He does have a procedure coming up october 6th and if that doesnt go well then october will be DEAD to me. I will never acknowledge october ever again, we will seriously be through. Just a warning october.
He does though. I Love seeing who this little man is becoming. Today he kept trying to kick off his pulse ox prob and then he chuckles about it. Boys are so naughty, even when they have such little movement they find ways to be naught. It is truly the best, and some what refreshing from dealing with all the emotions a girl gives you lol! We recently went to a genetic appointment and in that appointment, something I have not told on my facebook page for sol, or many other people, The neuromuscular doctor has found a drug that could potentially help Sol gain some strength. We will put him on it for a month and see what happens, she said if it is going to work we will see it happen right away. I am not starting this until after his procedure though, so not until october will we try it, but this is something i have been wanting, anything that could even possibly maybe help or maybe not do anything, but it makes me feel like we are trying SOMETHING, you know how hard it is to watch your child be in a body he really wasn't meant to be in? This feels like a little piece of hope and if not this, maybe some day there will be something. Each day I watch him, ready to jump like his sister, or walk like is cousin, or play like the neighbors and each day it breaks me a little more that he wants this and cant do it. It is a hard thing, but he is creative, between the two of us, we find ways to get things done so that is why I say he does give me hope. He is of course my rainbow baby and he is living up to the name every day. Him and his sisters makes me one proud mommy!



 

nicu awareness month

Wow, I did not realize that I have not written an update since spring break! I knew I havent been in the mood to do so for awhile, but have not realized it has been so long. I was driving to the store today when I started to think about how this month is nicu awareness month, something I haven't typically done much for, but reading some updates from parents that are currently in the nicu with their little ones, got me thinking about our time at the nicu and how traumatic it can be to be in the nicu. I wish I could let everyone see a glimpse of my memories from the nicu, so that people can truly grasp what it is like to have your baby in a nicu. Since I cant, I can only share a few thoughts that will stay with me forever. In honor of nicu awareness.

As many know, we spent time in two (technically 3) different nicus, and I have to say that they were quite different experiences for us. The nicu stay with Sol was easier and less traumatic, for. The. Most. Part. Two incidents made for some traumatic memories, but actually his admissions when he gets sick scares me more than anything that happened in the nicu with him. One thing that made his time in the nicu less painful (we will say) is that we knew what to expect. I knew I needed to be louder and more opinionated this time. His room was also much nicer, bigger, and quieter. So when i think back about Sol being in the nicu, i have so very few sour moments. I miss some things he had while he was there, and now I get to see the silver lining which is getting to have a toddler that didnt just break out of the nicu at 3 months, but has thrived and gotten stronger and grew into this 20 month old that he is. (Saying dada and lala and sooometimes momma) When I think back about our time with Sol there, the hardest parts of our stay was me pumping 20 hours a day! Being up all night and day pumping away. Ok maybe not 20 hours a Day but it sure felt like it. Also, of course staying in a place that isnt your home can be so uncomfortable, along with not being able to see your other child and your husband 4 days out of the week. Those things were so very hard. But every day when I would go in to see Sol, he would be his relaxed self ready to chill with me. I would get many good reports from doctors about him. Everyone loved him! I heard such few negative things while we were there, which was so helpful because i hate getting bad news by myself.

That last part I believe, no bad news with sol, is what made all the difference between Sol and Luas stay in the nicu. When I think back to our stay with Lua, i have such few good memories. We had amazing nurses that i wish so badly we could have also had with Sol, we had a select few great doctors! But there was too much unknown. I mean, Lua was just a ball full of unknown where very few people thought she would survive for very long. Sometimes I still cant believe that the doctor that delivered her (dr sutton) was able to keep her going until help arrived. I truly did not understand what was happening after she was born. Just image, you are pregnant with your second child with what seemed to be a completely normal pregnancy, you go into labor on your own, after many hours your baby is born and then a second after your baby is born, the doctor takes her away and quickly the room starts to fill with people, you cant see anything, cant see your baby, no one will tell you what is going on, oh and you still have to deliver your placenta yet. At one point i believed she was going to die there on the table, but then help arrives and they get her stable and I asked a nurse if she was ok. The nurse says almost nothing just a very small I dont know.
Anyway moving forward...

When we were sent to the childrens nicu, we were under the impression we were going there to have her contractures fixed. Imagine our surprise when we were finally allowed in by Lua we had a team of 8(?) doctors standing around her telling us she is going to die. Utter shock. This is my first memory that goes through my head every time i think about lua being in the nicu. A bunch of doctors, which that alone is tremendously intimidating, standing around our baby telling us she is going to die.  They didnt think she would live to 6 months, they probably didn't expect her to leave the nicu in reality. Now, besides that moment... numerous people would come in many days in a row to tell us how severe, weak, and a lot of work lua would be. This is our baby! Our newborn baby and we were expected to just give up on her immediately. This is what I get to remember whenever I think of Lua being a newborn. Never any good news about her. Multiple times being asked if we rather her just let her go. I can't even justify using the word traumatic, there should be a stronger word, but yes so very traumatic. Not to mention all the other things that make staying at a nicu hard, living away from home, having a 2 1/2 year old at the time and trying to balance both being in the nicu and taking care of her. Yes, Lua's nicu stay was much hard than Sols. This brand new world we entered and we had no idea this would ever become our life.

But, both our babies made it out of the nicu. Many times parents don't get to leave the nicu with their babies. Even if we did lose Lua 4 months later, we were able to take her home. What i would give to have had the knowledge we have with Sol with Lua. I know for a fact she would still be here if we knew the things we know now.

I wish i had some amazing words for any new parent in the nicu, but I don't believe there are any such words. No matter how short or long a nicu stay is, you always have the grief of the loss of that perfect  birth, leaving the hospital with your baby, or whatever it was that you pictured would happen after you have this sweet baby you longed for. The loss of that is definitely fair to grieve over, but it is certainly worth it to make it through each day and be able to take your baby home. That is the best moment, best feeling ever.

spring break.

I started this during mays spring break but didnt get very far, like the only thing i had down was .... spring break. I'm going to leave it as spring break though. I didn't write anything because i felt myself getting very depressed and only wanting to talk about the bad things. I have spent weeks trying to pull out of this little dark spell and im starting to feel better in some aspects of life. Others not so much but at least the 'other' issues are things I assume everyone goes through.

Well spring break for us was very fun... except not. I started out our week before spring break with strep throat. Causing us to miss our big genetics and neuro clinic. We cant get back into that until September so i am so seriously disappointed with myself that i had to get sick that day. The next day i spent recovering, and then it didnt take long to spread to my husband. At that point i called the doctors and asked for all ov us to get antibiotics. We had so many appointments coming up i was trying to get us to at keastba few of them. On top of appointments, i felt so deathly i couldnt imagine what would happen if sol caught it too. Our family doctor did inform me that it was rare for kids under 2 to ger strep so that made me feel a bit better. Nevertheless, towards the end of the week three out of four of us were on antibiotics with sol being the only one safe. That was until the week of spring break when he woke up super suctionie. I spent the whole day doing a ton of breathing treatments on him and coughs galore. I dont think he had strep but they aren't positive, we did end up doing antibiotics with him too just in case. I spent that night, after getting up at 4am, doing his air way clearance treatments until 1 am becuse this sickness had the secretions going right to his lungs and i was trying my hardest to avoid being admitted to the hospital. At 1 we did the switch and at 6 i was back at it on clearing his secretions. He was able to stay out of the hospital, but it took a long time for him to start to recover, i was starting to have my doubts! By the end of that week, instarted feeling miserable again. One night while i was suctioning sol and checking to make sure his lungs were cleared, I felt as if strep was coming back! By morning i couldnt talk. Called the hospital and they were very doubtful that i had strep again, but i was feeling so bad i had to go in. Sure enough, strep again. 20 days of antibiotics! And now at the end of those I started to have a skin reaction, so it has been a blast lately!

Now on the mend, we have had appointments to make up for, extra work days to put in, and sols typical nurse left for maternity leave the end of the week of misery. It has been an interesting week to say the least. Sol had his swallow study this last week and it was very interesting, he failed, but it qas interesting. They decided to do baby food by spoon and not a bottle which we had been practicing on, and he did attempt to swallow the food right away and the first swallow went down but the remainging stuff he silently aspirated. So he cannot do anything by mouth as of now ans we will do a repeat study in 3/6 months or so. We know what to work on now ans hope we can get him there. It would be wonderful to get him to eat a few bites by mouth! 

Well thats a lot to update on for now and it is taking me weeks to do so thats that. 

Also most of this was written on my phone. Forgive the errors ill have to fix when i see a computer again. 

happy 3rd birthday Lua.

Three years ago today we met our beautiful daughter. We were very close to not having her in our lives at all, but she fought so hard she must have been determined to live this life however short it may be.

The picture here is the last picture before labor got too strong. I had already been having contractions on and off for 14 hours, and the hospital staff started to prepare everything for our water birth, which is when this picture was taken. I think about this picture a lot, this moment here we knew our lives were going to change but we were unaware at how it was going to change. Having a child no matter what number it is, is always life changing, yet to say having Lua was life doesn't seem to mean enough. How can there be anything that means more than life changing? I'm not sure, but that is what it seems like my life did. Changed my life to something I could have never even imagine would come to happen. I can say for certainty that I never pictured my life turning out the way it has now. I know most of us don't live the lives we thought we would anyway, but never ever would I have guessed we would have gone on to have a healthy child, a child with an undiagnosed condition, lose that child, and go on to have another child with the same condition as our previous child that we lost. I guess some things are too unbelievable to ever be able to imagine. I know this is a lot of rambling, as usual, but it is just thoughts. 

Unfortunately, I started this blog on her actual birthday, but things went crazy and I was never able to finish it. Her birthdays are seeming to get harder each year though. Even though we had a nice time going to the cemetery with all of us, then later going out to eat, it is just hard to believe that as a 28 year old mother, you have buried a child (at the age of 26). 

And every day I live in a little bittersweet moment, having Sol and seeing him get bigger and accomplish more things, along with watching his struggles, I have a constant reminder of what could have been. She should be here doing just as well as he is, she was improving just as much as him, but for some reason or another we aren't living in that scenario of having all three of our kids. 

This is why her birthday is hard. Along with many many other reasons. 

Every day it is a battle to fight all the why's and what if's and try to just move along with my day. Then you have all different kinds of people all around telling you to just get over it, move on already. I swear I hear people still talking about when their dogs died, why is it okay to mourn over your dog for years, but I shouldn't get a lifetime to mourn over my own child. So many backwards things in this world.

We celebrated you, Lua, on your special day. We Love and miss you terribly. 

rare disease awareness day.

My last few posts have been, probably, a little too depressing. With tomorrow being rare disease day, it is probably a good time to share any good things I might have. The hospital we go to is doing shout out to certain rare diseases on facebook tomorrow. I dont know if they will share our story but I will be on the look out! I did send in out story so we will see.

These last few weeks, Sol has been hitting some big marks for him. He has become such a copycat, mimicking your facial expressions. We daily have 'smack' offs where we send kisses back and forth. He is the cutest. But it excites me a ton to see him starting to do these things, things normal babies do. His strength has definitely been improving, this last week he has also been starting to move his shoulders. He has rolled from being half on his tummy to his back, moving his elbows, nodding yes, sticking his tongue out a lot, and the newst thing he has started doing is trying to pull up when holding him in a half reclined position. He throws his head forward and can fall into my chest. Such great things to be doing if he can continue to strengthen it all. The problem we are still having is his swallowing issues. He has at least 7 gallons of drool all the time and he cant swallow it all and everytime we stop to suction, which can be every 30 seconds, we stop working on strengthening games. It gets complicated and frustrating, we have to keep working on this so he can play more.


There is too much for me to be able to say on this day of awareness so I will just share what we wrote for the american family childrens hospital. They posted the story on Lua, but I think we had too much written and half of it got cut off.... so here it is, basically all I can say about rare disease day.


About Sol and Lua


Our children Lua and Sol were both born with such a rare condition that it still remains unnamed,

Lua was our second child, and was born not moving or breathing, we had no idea that anything was wrong with her, she had aspirated fluid during delivery and had to be resuscitated and intubated.


Once she became stable she was transported from our local office to two different NICUS, we learned a little more each day and we found out she lacked skeletal muscle which caused Arthrogryposis, which are contractures in most of her joints.


Geneticists believed she most likely had a neuromuscular disease and due to her weakness it was suspected that she had SMA or Myotonic Dystrophy, which both are progressive conditions where she would continue to get weaker and weaker.

Genetic testing showed she did not have either condition and she remained undiagnosed, Lua was unable to keep a strong, safe airway because of her lack of muscle and needed to have a Tracheotomy and g-tube surgery in order to come home.


Once we were able to bring her home we had part time nursing care for awhile, and went to many therapies to help strengthen her. She was showing signs of growing stronger a very tiny bit at a time, unfortunately Lua caught a cold from her older sister, and without proper lung support, she grew too weak and passed away suddenly even though she seemed to be getting over the cold, she was three days away from being 7 months old.


After she passed away we started to look for more answers with an whole Exome sequence test and muscle biopsy, initially everything came back normal and some months later we became pregnant with our first son.


When I was 24 weeks pregnant with Sol, we found out there was a gene change that showed up in our daughters Exome sequence and that same day we found out our son was affected. The gene change they found is in the Plectin gene, which is a large protein in the cells usually affecting skin but can also affect skeletal muscle.


When our son was born, we requested to be transferred to American Family Childrens Hospital where the genetics team found that his condition is more likely a type of Congenital Myopathy with Arthrogryposis, we still don't know the exact type of Congenital Myopathy because there are still too few cases of people affected by the Plectin gene showing the same symptoms our children have/had.


Today Sol is just about to turn 14 months old, he is double the age his sister was, he still has zero head and trunk control but recently he has been moving his shoulders which showed no movement until now.


He stomps his feet and wiggles his hips and toes. Just this month he has been working hard at talking, getting close to saying "wow" "what" and "how", I think he is preparing to go to parties!

We are still working with Genetics to give us a better idea of his condition but I am confident that our little one wouldn't have gotten as strong as he has without all the help and support from the pulmonary team and all the specialists at American family children's hospital.

https://www.facebook.com/uwhealthkids/photos/pcb.10155950572302178/10155951657312178/?type=3&theater

Special thanks to Hailey Lundborg Photography!