Trampoline and Planes

The kids have the day off of school today for President's Day. Juliet headed out to an open gym at gymnastics, so I asked William what he would like to do. He used his talker to communicate that he wanted to watch Planes on the trampoline. It took some interesting navigating on his talker to put those two together.

Happy Valentines Day!

We may have spoiled the kids with a trampoline and new books! 

Snow Fun

Over the weekend the weather was warmer so we got out of the house! We went to lunch at Potbelly's and came home and played outside. William had a blast! He was all smiles as he drove his power chair around the driveway.

Physical Therapy Fun

Below is a video of William working on some little sit-ups.  I love watching the small smile on his face in this video! I can't help but smile too. 

Cosmic Bowling. Whistons and McNamaras 11-22-2014

Sunday Funday

November 9, 2014.  Sunday Funday brings us to Ju Rin for some scallops. 

We also worked on some school art projects.

School Pictures 2014

This week I received William's and Juliet's school pictures. School pictures are always a fun surprise.  You get your child all ready for picture day and wait for the results...

When I opened William's school picture packet I was overwhelmed with happy tears and a memory of a conversation that we had one of William's NICU doctors came rushing back to me.

As any parent would be, we were full of questions in the beginning and were terrified for what the future may hold for our son.  We expressed that we were worried that our son would not be in "the class" - I think were the words we used. We were trying to discuss Williams's short life expectancy. The doctor began to assure us that what we were looking at does not affect his mental capacity and did not engage in the life expectancy discussion. We did not have a diagnosis, so life expectancy was something that was unknown and extremely frightening,

I recently had dinner with some MTM mothers and the same topic came up during our conversations. Most had similar stories of doctors telling them the best we could do was to "enjoy your baby". As I sat and listened, I thanked God for our NICU/PICU doctors and nurses and our amazing pediatrician who never gave up on William or our family. One day shortly after we received William's diagnosis I was in his pediatrician's office and again brought up the topic of life expectancy. She stopped me mid-sentence and said that we were going to be proactive and aggressively attack even the slightest cold. She gave me her cell phone and told me I could call her anytime.

Thanks to all of these wonderful, caring physicians, I have school pictures of William. They collectively saved his life and gave him and us a chance. I will forever be grateful.

William's 3 year preschool picture 2014-2015

William's Preschool Class 2014-2015

Juliet's Kindergarten Picture 2014-2015 

Halloween 2014

Halloween 2014!

This year our kids started discussing Halloween costumes in September. Juliet wanted to be Elsa from Frozen and William picked out Buzz Lightyear with RC!

For those of you not familiar with Toy Story. RC is the Race Car, probably most know from the scene in the first movie when Buzz and Woody are chasing the moving truck. (see pictures below.)

On one of William's sick days in September, William and his nurse sat down and did a internet search for a cool wheelchair Halloween costume. And they found it! They found a little boy whose parents made him a RC.  http://ideas.coolest-homemade-costumes.com/2012/11/04/coolest-homemade-buzz-lightyear-rc-wheelchair-costume/

William was so excited when he showed me the costume he picked out. I on the other hand was a little intimidated, but how could I say no an excited little boy.  So I said why not! I can make RC for William!!

Included are some pictures of my progress. I used foam board to make RC; it comes in huge sheets in the insulation section of Home Depot, a hot glue gun with foam glue, my carving tool of choice was an electric knife (for family reading this blog...I could use a new electric knife for Christmas) and pool noodles for the grill!

Here are some picture of William in his Halloween costume at his preschool! They had a parade outside and William was the line leader! I think he was excited and proud of his cool costume, which makes all the hard work worth it! (Who am I kidding, I loved making RC for him!)

CMD-TR

Last Friday I attended an event hosted by Dr. Mike Lawlor, Ph.D. and Stacy Cossette of the Congenital Muscle Disease - Tissue Repository (CMD-TR) located at the Medical College of Wisconsin in Milwaukee. The Congenital Muscle Disease - Tissue Repository is a project that Where There's A Will There's A Cure has helped to fund.

They invited local CMD (Congenital Muscle Disease) families for an afternoon at their lab. The event included information about tissue donation and subsequent research use, a tour of the facility, a presentation on animal model treatment trials, microscopic specimen viewing and the opportunity to meet the people who continue to support treatment discovery.

Dr. Meng, Jenny Tinklenberg, Dr. Lawlor, Wayne Cossette, Sharon Brunette, Melanie Whiston, 

Stacy Cossette, M Lucinda Ladwig, Katie Mitchell and Patty Mitchell

What is the Congenital Muscle Disease Tissue Repository?

Basically, it is a place to safely store muscle or body tissues that is run by one of the leading muscle disease researchers and his highly skilled and committed staff. The CMD-TR stores left over tissue from a muscle biopsy, routine surgery or autopsy.

The slides of the tissues can then by accessed by the leading researchers from around the world as they work towards viable treatments for people affected by muscle disease.

Last summer, I consented to have whatever was left over from William's muscle biopsy sent to the CMD-TR for safe keeping.  It was an easy process on my end.  I simply contacted Stacy and signed the consent.  The CMD-TR now has a block of tissue from William's muscle biopsy which was done back in November of 2011 safely stored in a freezer set at -80 degrees Celsius. (Included is a picture of the freezer.)

During Dr. Lawlor's presentation an interesting conversation emerged about who's tissue may be of scientific interest. The families that joined me at the event are affected by another congenital myopathy called Nemaline Myopathy.  Their community is encouraging parents and even grandparents of affected individuals to donate any left over muscle tissue if for some reason they undergo a surgery. I then became curious and asked the question if there is an interest to collect samples from MTM carriers. The answer was yes, they are interested in tissue samples of both parents of individuals affected by MTM. The explanation was that is it of scientific interest to collect samples of the parents because as research progresses and more questions and answers emerge, it is easier to access data previously collected then to find out that that data is needed and then try to collect it. I found this information interesting and wanted to share in case anyone in our MTM community may have a surgery planed where leftover tissue may be able to be collected.

To learn how you can donate tissue to the CMD-TR, contact Stacy Cossette.

Thank you to Dr. Mike Lawlor and Stacy Cossette for hosting such an amazing event for local CMD families. I had a wonderful time learning about the CMD-TR and the exciting medical research for both Myotubular Myopathy and Nemaline Myopathy. 

Preschool Update

William has been in Preschool for a little over a month now. He attends school four days a week from 9:00 AM to 11:30 AM. School has been a bit of an adjustment for us all.  In order to get William to school by 9:00 AM we start his breathing treatment at approximately 6:00 AM. Those of you that know William best, know that William is NOT a morning person.

On top of the schedule change, William caught a miserable cold at the beginning of September.  He missed several days of school. We were doing breathing treatments (Nebs, Vest and Cough Assist) every four hours and had multiple trips to see the doctor.  This went on for the majority of September.  On the days he was doing well we sent him to school and on the not so good days he stayed home.  (After such a long time not feeling well, we practically had to wean him off of his ipad.)

In spite of having a sick start, William is doing well in school.  He often comes home smiling and has been vocalizing more than ever. I have received reports that he enjoys the circle time where they talk about the day, month and the weather.  He joins his class at snack time, where he licks a sucker. I got a report from one of his nurses that he had a conversation about Batman with another little boy using a Batman page I had programmed in his talker (communication device). The class has had the sharing bag that allows one student per week to bring in a toy. He brought in Buzz Lightyear to share with his class. (See picture below.) The socializing he is getting in these situations is huge for his social development.

I also included a picture of William in PT/OT. The picture below shows him swinging while kicking a ball.

If I were to guess what William's favorite part of school so far I would have to say riding the school bus. We have programmed  a page on his talker about the school bus. Complete with "Let's go Fred". Fred drives William's school bus and the other kids all say "Let's go Fred" before he starts driving. The school bus is a fun part of William's day. They play music, which William loves. The bus even has the window's decorated for Halloween!

Below are some pictures that Dan took of William waiting for the school bus and getting on the bus, along with one of myself and Buzz. Buzz loves helping me take Juliet to school and waiting for William's bus.  He is often too excited and needs more training.

Here are a couple of fun pictures I took of William and Juliet playing on a Saturday afternoon.