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!