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!

Almost march

I noticed last year, and this year, how this season is very difficult for me. When i see green stuff coming out and all the shamrock stuff, i start to cringe. In 2014 I almost had Lua on st patricks day, ive never cared about this holiday before but now it is a constant reminder and a day I try my best to avoid. I've been in such a bad mood lately and really seeing all my flaws, like how jealous I feel, how ungrateful I can be, and I'm sure there are more but those two stand out the most at times like this. I am very happy for everyone who gets pregnant and go on to have the perfect, happy, healthy families, but there is always a part that hits such a sore spot. I suppose it comes with the territory.
I was watching counting on, or whatever it is called now, with the duggar family, and I realized that I have never experienced that 'second' child. Even though I have birthed three babies, I have no idea what it is like to raise two healthy kids or have two healthy births. I will never experience having that baby put on your chest right after they are born again, and for some reason that really bothers me and hurts the most. I know I've said it before, but it just does, and I hate watching that show for that reason. It really saddens me that this already huge family can just keep having more kids and more kids. I know all the arguments that are out there, they are a good family, they are raising great kids, yeah yeah, I get it, but it doesn't stop the fact that some people out there would love to have just two healthy kids and watching them plan to have as many kids as their bodies will let them, feels like a slap to the face for those who would love two or some who want just one. That is where my ungrateful part comes in, I should be so thankful that I've experienced three kids, but Lua's death really spoils everything. Makes me bitter, as we have covered, and also keeps it in the back of my mind that how long will I have with Sol. Their condition is so severe. I never try to think about this for very long because it is so painful, but there is no denying it. I constantly worry over every sneeze, every weird temperature, every off heart beat, that he is getting worse and will the day that we lose him come soon. I never thought about these things with Lua. I was very ignorant about this. Maybe that is what has gotten Sol to be a year old, is my constant worry over it, regardless it is not a great way to live. It is burning me out lately and it also causes you to want to distant yourself away from everyone that has a baby because seeing healthy baby after healthy baby can break a person. I really hope that this feeling changes, as the kids get older, you stop feeling so angry that everyone in the world can have healthy babies except you (over exaggerating of course, I know) but that is what it brings you to. I am staying hopeful that someday my feelings will change.
If I wouldn't have had such bad experiences with local therapists, I think it would be great to meet with one, probably something I Need to do, but it is tricky to find the right person. We have an amazing therapist in madision I love to see when we are there, but it is a good thing we haven't been inpatient for awhile, but unfortunately, that means this blog gets bogged down with these depressing posts...
I think it is important, though, to be able to recognize these feelings and at least I can pinpoint to where they are coming from, so at times I am able to control them when they get too out of control. It is never easy though. This year I started the 30 days of yoga with adriene, and I absolutely loved it. I feel like I can push through some anxiety and blow ups that I'm so use to having, so I am continuing this practice for the whole year hopefully, and maybe by next year this time of year wont bother me so much. Except I am fully aware we NEVER know what the next day will hold, so I don't plan on saying next year will be better, could be worse we never know.

Anyway the point of all of this is, I really hate the month of march and it isnt even hear yet. Some days I imagine all these things that happened, happened differently and I am sitting at home pulling my hair out because I have three kids that are running and jumping and messing up our house, fighting and yelling, breaking things and throwing food and it is the best day dream ever.

temps.

Things with Sol had been quiet the last few weeks, up until last weekend that is. Until then, he had a runny nose one week but recovered from that with no issues, then he was sick free for a week until last weekend he came down with a fever. I wasn't too surprised as May had a fever for a day the previous weekend, I assumed he would have the fever the same amount of time and then be over it. He was heading towards day 3 with a fever so that day I ended up giving him some Tylenol before bed time. While we were doing his last feed of the night, I noticed his fever had broke and he soaked his clothes. I changed him out of all his clothes and got him nice and dry, then finished his feed. I took his temp again before I went to bed because he was due for some more tylenol and I wasn't sure if he needed it or not. When I took his temp, though, I ended up getting 93.8, I took it a few more times to make sure I was doing it right but I kept getting the same numbers. I decided to take it rectally so I knew exactly where he was and then I still only got 94.8. I, of course, started googling and reading how bad it was to have such a low temp. I decided I would just keep checking it for awhile to see if he was bouncing his temp around or something. at around 1am, and me not getting any good temps, I called the hospital and ended up being able to talk to his pulmonary doctor who had been on call. She told me if he was really that low his heart rate should be getting pretty low too. His heart rate was lower than normal though, he has started this new thing where he stays in the 80s or 70s while he is asleep now, and even dip to the mid 50s now. At the time I was on the phone with her he hadnt dipped into the 50s, so we decided to give it one more hour, bundle him up more, and take the temp again. So I stopped worrying and closed my eyes for an hour where after I went back to check on him and at this point he was so super cold to the touch and a temp of 91.8. I pulled him out of the crib and laid him on me with a blanket over us, trying to warm him up. Thiago checked his bed out, because my thought was that he may be laying in something wet that made him so cold. Sure enough his bed was soaked again and was super cold. I called back to the hospital and we agreed he needed to be seen. After we spent 2 hours holding him trying to warm him up, we packed the car and went to Neenah to the ER.
On the way we bundled him and blasted the heat as high as we could take, by the time we got to the hospital and got him into the ER room, he was already at 97. We decided to run some tests and keep an eye on him for a few hours. All the tests came back normal, the only thing being off was his ear that had a little inflammation going on. They treated it as swimmers ear and after talking to the Madison crew, we were able to go back home, before we left he was already at 98.
Luckily my parents had planned to come watch the kids anyways and met us at the hospital and then came home with us, allowing me and Thiago to get some rest. I had only slept the one hour that night as it was and I could hardly keep my eyes open anymore. We spent the rest of the day monitoring his temps, and at night time too I kept an eye on them. But my thermometer kept getting weird readings off and on, I finally decided to go buy a new one a couple of days after me getting weird reads. After buying the new one, we haven't had those low reading temps again so maybe it was just the thermometers all a long, who knows. I was just baffled with having to deal with this when you are never told what to do if a child has a low temp. Of course I only think of worst case scenarios the whole time, which makes me sick to my stomach.
The last few days have been going better, except now he is keeping a lower hear rate overall and when he sleeps he is setting the alarms off because he goes into the 50s. It looks like we may need to do a sleep study on him and see what is going on. 
I guess I left my self to be vulnerable to sicknesses, because come Wednesday I came down with a really crappy sinus cold. I am Sooo hoping this is what sol had those couple of weeks ago and that I don't share this new one with the kids. It has been taking a toll out on me, I can't even imagine what it would do to Sol!

Some days, some moments, it is just so extremely hard to have a medically fragile kid. I wish so badly he didn't have to deal with so many things so often...