Hi everyone, I wanted to post about a facebook group that is really amazing for us CMS'ers....
Here is the LINK: Congenital Myasthenic Facebook GROUP
Please ask to join the group. It's private....but let them know your history and diagnosis and Denise will ADD you.
It's up to 453 MEMBERS. WHOOT!!
Have a great day.
In the meantime...Here's a pic of LUKE and Hannah in the bluebonnets. He's being goofy and sitting in her lap! LOL!!
We are from TEXAS so the bluebonnet thing is our deal. Enjoy!
Well, it's that time again. The Holidays are here. Every year we take Santa pics with the entire family. It's a blast. Of course I'm a wreck and praying the kids do well. Sometimes Luke will get a bit of sensory overload. Hannah is full on and ready to go! LOL..
Here is our 2012 Christmas Santa pic. Enjoy!
If you stumble across our dinky CMS blog....send me a message. I love to add friends along the way. Hope you have a blessed and joyful Christmas.
May the God of all and in all bless you greatly.
It's been awhile. But, I got an email from a very sweet family from Germany reminding me that I need to blog as there are so few of us. Luke is doing great!
He's reading 1st grade level
Talking like crazy
Developing quite the little personality
And occasionally will hug his sister. LOL
Here is our latest family shoot. Luke is going to be a blue spotted sting ray and Hannah will be a princess. Going to be fun!
Our latest from the MAYO CLINIC: We might try liquid albuterol in combo with mestinon to see his stamina and if it increases. Will keep you posted!
To God be the Glory. There are no other words we can say today. Lord, thank you for today. Luke...you give us pure joy. You are the most precious child and it's a pleasure to love, raise, laugh, play, walk, run, eat, drink,read, and breathe with you. We love you desperately. Mom/Dad and Hannah bow.
Hey blog family, guess what! Luke lost his 1st tooth today! It was hysterical because I kept saying to Luke "Luke, go awwwww". He finally opened wide and I said "momma fix it". I immediately pulled it right out. It literally has zero 'tug'. LOL! It was ready!
My favorite part was when he realized I had his tooth in my hand he stared at it and then ran to the nearest mirror. It was Hannah's mirror that was hanging on the gate. He stared and stared. Then, an hour later while eating a muffin, he went back to the mirror and watched himself eat his muffin. LOL! So cool. I told him the tooth fairy was coming but he literally had no clue what I was talking about. We've never discussed the tooth fairy!! I'll have to work on that. In the meantime, enjoy!
I call this video "TOOF Luke". (in honor of Ericka!)
Piano Recital! Many of you know that Luke and Hannah are in piano lessons. Luke/I have been in piano lessons for quite awhile and we decided to go ahead and put Hannah in the lesson mix on Thursdays. My children are so bright!!!
Luke did amazing!! His piano teacher said "Luke may very well end up just being that amazing performer when there is an audience". We were in awe. He will fight us playing goody goody stop stop during practice. it's maddening at times. But then when there is an audience my child plays goody goody stop stop all across the key board!!! LOL! it was amazing!
Hannah bow "Bowed" and played one note. ADORABLE. I actually played a little rendition of popcorn and peanuts and I don't have this on video. (sorry) But, my teacher said I played flawlessly. Like son Like daughter Like momma. LOL! They were amazing!
If you turn up your volume you will quietly hear Luke playing. It's precious! Love you!! Until next time..Practice, Practice!! :)
It's here my bloggies. Big boy is heading to Kinder! Can you believe it?
I showed up the last day and took Hannah bow with us! OMEEEGRACIOUSNESS. This child loved it!! Can you say Hannah bow Pre-K! She will love it.
Luke was so excited to see me and said "Momma, sit on the rug" as he patted the rug next to him. I immediately walked over there and he got in my lap!! So precious! I so loved it.
Ms. Bird (Luke's teacher) gave him a book and hugged him and said her goodbye's as he's heading to Kinder to a whole new teacher/classroom. Really made me sad!! He's been there since he was 3. :((((
So, off to big boy school we go next year. Here are some pictures my nurse/attendant took of us that day. I want to point out...I looked amazing. :)
Here you go! Love you! I call these pictures "Goodbye Pre-K".
Please note: Hannah bow crawled over and sat on the rug with all the other kids. She sat right in front of this little hispanic boy and would not leave. She just sat right in front of him (away from the focal point where the teacher and kids were looking) and awkwardly stared at him the entire time. It was hilarious. Poor kid! She definitely made it obvious he was special in some way. All the kids were staring at them both. LOL!! Way to go Hannah bow...the uncomfortable awkwardness with people will get better as you grow older. Just like her MOMMA!! LOL!!
The Hannah bow stare down below. LOL!! THE ENTIRE TIME PEOPLE!! LOL!!
Another view of the Hannah bow stare down...look closely below.
Below Luke is dancing during the song. His teacher has told me he has always done this from day one. He dances round and round while the other kids just stand there on there little color squares assigned to them. My son however....dances around. Yes, we strive for normalcy...but I gotta tell you...I'm ok with Luke dancing. God is good...period.
Ok...This is truly a video that is heart melting. My baby kissed da momma on the lips for the first time in his life!! At 5 years old Luke decided to take my face, angle it right at him and KISS ME and MAKE THE "MMMMMMMWUA"> Sound with it!!!! LOL!!
I was sitting there and all the sudden he came up, grabbed my face and intentionally kissed me on the mouth. It was adorable. I about died! After he got the reaction from me I immediately said "Heather..you gotta get this on video" and threw her my phone literally! Hence why the sideways view. Dang those iphones!
The funny thing about this day is that he did it over and over. And, he even tried to stick his tongue in my mouth!! LOL. I kept my mouth shut tight on those! LOL. But, after the day was over...all DONE. The next day I said "Luke..give momma a kiss". He ran. So funny!!!!
So, I had my day of glory. Loved it. Love my baby boy. I call this video "MMMMWUA" in Luke's sweet voice.
I know. I affirm you. I look amazing in this light. Jonathan took the picture. The kids were vegging out with me and watching Sesame Street. It was so sweet. They just sat there real still and let momma hold them tight. At one point I tried to get up and Luke said "NO" and hugged me tighter.
Insert MELT HEART. Of course, I stayed. :) GLADLY!
Here is the ONE picture of me during our staycation. Luke got out today and walked; Jonathan went to work and we ended the day with me/Jon going out to eat for a bit by ourselves. WE DROVE..it was amazing.
The first picture below I call "Snuggle momma".
The bottom 2 pictures were taken 2 days ago when the kids were begging to go outside and I had to tell them it was too cold. I call those pictures "outside".
As you can see, the babes love the snow. I had to get a few shots of this for Luke & Hannah bow because if God keeps them in Texas for as long as me/jon..then they might possibly not see this again in another 25 years. At least that's how long it's been for us!! WOW! Isn't this insane!
Well, Lukester is feeling better. He has not coughed as much today and I totally give God the praise. Thank you for praying. We need a few more days of ABX in Hannah bow and I pray she feels better. Man...this has been 4 weeks of ****!
That said, todays' theme is "Squirrel in the snow". Luke said this about a cajillion times! LOL.
We bundled him up right outside the door while he played in the snow. Inside/outside fashionable wrapped in blankets. :)
Over the last 2 weeks Luke has recited "Twas the night before Christmas" to me. It's the first page of the book we read and it's sooo cute. I've desperately tried to get this on video and in our failed attempt to get it all this video totally cracked me up.
I call this video "NOOO, NOOOO, NOOOO...THANK YOU".
Luke gets it this year. It's amazing, awesome and more awesome. We are thrilled.
That said, Luke struggles with 'new' things. In the last several months, He will embrace a 'new' thing if we give it to him for a moment. But then, he'll start freaking out and say BYE, BYE _____(insert item here) and then proceed to throw it across the room and run, hit, knock things over, etc. It's very frustrating for us as a family as we truly want to see his excitement and we **know** that he's excited. He just gets overwhelmed with the transition of having a new item. Does this make sense?
So, our new Christmas game plan. Dispatch "Mindy". Our speech therapist. She's amazing. She's attentive, gifted and truly **cares** about the well being of our child with the 'little' things. She goes out of her way to help us as parents. It's a blessing from God. I give Him the glory as I truly realize after today how much the little things mean to our family.
So, this video is your Christmas present Mindy. I did not give my therapists anything this year. Why? I honestly did not think about it until just now. Wow. Bad mommy. At any rate, I hope this blesses your Christmas holiday.
**If you are going to watch this video, you must watch it until the very end. It's soo key to see the end result. And yes...HE KEPT calm after the video stopped rolling. We are so excited!! Love you Mindy and thank you for **caring** about our dinky little dysfunctional family.
House is spotless. All things are in place. Christmas lights are on. Food is bought. Presents are wrapped and most importantly...Laundry is done! YES..it's true. AND THE DISHES! :)
A very happy momma.
We are slowly feeling better from our sickness and by God's grace and mercy...we will all be well on Christmas day! THANK YOU JESUS.
Thank you Lord.
So...behold, my sibling piano video.
I call this video "Pester piano Hannah". She loves to pester brother and stick her index finger in his face at all times. It's hilarious. Notice Luke desperately trying to control himself from freaking out on her. LOL!
Love you blog family...May your Christmas be blessed.
Because I've been a slacker blogger, I'm trying to catch up to some fun events that happened over these last few months.
One in particular is Luke's progress in PT. (physical therapy). It's been amazing to watch and we are so thankful for his therapists. We are in awe of what they can get Luke to do! it's really pretty awesome.
That said, here is a glimpse of his hard work. He's our love bug. We are desperately in love with him and his accomplishments. I guess mainly because we think "wow..it's a miracle". Everytime.
Behold..Lukester! I call this video "Mountain furniture..and Luke".
Welcome to our blog site. The purpose for this site is to educate and advocate for Congenital Myasthenic Syndrome. Our son Luke was diagnosed with CMS at the age of 18mths and has the Rapsyn gene mutation confirmed by the Mayo Clinic in Rochester, MN. Luke was in the NICU for 94 days. Below are detailed links month by month of his journey. Also, the Mayo Clinic journey is below. I chose a blog format for Luke's website as I hope this helps any parent and/or medical professional understand the day to day challenges with CMS. God Bless and warm regards, mom
P.S. I'm slowly adding cms friends below. Send me an email and picture and I'll add you!
Formula tube intake per day: 240ml of Nutren Jr. w/fiber
Water intake per day (syringed in tube): 300ml
Food intake: Pizza; meatballs; beans; ice cream; anything soft..but still not hard meats..(he has a hard time chewing)
Physical milestones: Officially walking without assistance. He started walking at 4...but with a walker. Now, he's full blown running!! Everywhere! talking non-stop...knows his alphabet and numbers and loves to read. (he's very, very, very smart!) He loves school and is one of the smartest kids in the pre-k class! He's doing amazing! Thank you Lord!
Luke has a new baby sister named Hannah Hope. Born 11/19/08. We were informed by the Mayo Clinic that she does not carry the CMS gene mutation. However, our sweet Hannah was born with another genetic disorder. Trisomy 21. (Down Syndrome) We were shocked by this..however, by God's grace..we are on another journey loving and caring for an amazing child. Thank you Lord for the priviledge. And..thank you for showing up. We are having up's and down's with her diagnosis emotionally. It's very fresh. However, we are relying on God's strength to sustain us. We believe..this child is yet another amazing gift from our Father in Heaven. Much love, Mom
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Our staff of doctors for Luke
Dr. Susan Iannaccone - Primary Neurologist
Dr. Selcen/Dr. Engel - Mayo Clinic Neurologist
Dr. Marla Conger - Primary Pediatrician
Dr. Andrew Gelfand - Pulmologist
Dr. Ewen Tseng - ENT
Dr. D. Hermann - Gtube/fundo surgeon
CMS kids when sick..
A temperature is a red flag. Typically, cms kids will get very weak and sometimes choke on their own secretions while dealing with a temperature of 100! 1) Have suction pump charged and ready 2) Have oxygen (canula) hose ready 3) Cut tube feeds in 1/2 and replace with 1/2 formula - 1/2 pedialyte HYDRATE, HYDRATE, HYDRATE -- try to give them 60cc's of pedialyte per hour along with tube feeds cut in 1/2. This is what we found helps Luke stay OUT OF THE hospital.