The meet and greet was fantastic. Families introduced themselves to each other and mingled with researchers and clinicians.
Day 2
The morning began with an introduction from Dr. Alan Beggs of Boston Children's Hospital.
Anna Buj Bello was next. She is the head of a research team at Genethon in Paris, France. She started with a brief overview of gene therapy.
The production of vectors and studies concerning the safety of vectors was next. A great amount of vector is required. 1000 billion for each patient is a lot of vector.
The results of the MTM mouse model with AAV showed a significant positive change when injected in a single mouse muscle. The mouse would have died within weeks, but survived over a year following the administration of the therapy.
Dr. Martin Childers of the University of Washington expanded on the information presented by Anna Buj Bello. Pilot studies in larger animals appear to have similar results to the mouse models. This is exciting. Improvements in muscle strength following an infusion injection are encouraging. Ms. Goddard shared her work concerning pulmonary function.
Dr. Michael Lawlor presented information concerning enzyme therapy. He provided a brief overview of enzyme therapy and the mechanisms for delivery. Positive results have been shown in early mouse models utilizing enzyme replacement therapy.
Deborah Ramsdell, CEO of Valerion Therapeutics, discussed the enzyme therapy drugs Valerion is working on. She provided information concerning their current studies and their goals for advancing enzyme therapy through clinical trials.
Dr. Laurent Servais discussed his methods for developing tests to measure function and the importance of longitudinal study.
Our 4th of July Holiday Weekend was filled with fun adventures! Here are some fun pictures and stories from the weekend.
Thursday, July 4th 2013:
We started our holiday weekend at a family 4th of July party at Uncle Den's and Aunt Gerry's House! It was wonderful to be able to take William to a family party!
Aunt Nonie and William with his new rain stick
Later that day Aunt Rachel, Uncle Josh and Brooklyn arrived in town from Kansas City!
All of us went to Batavia's firework spectacular. It was perfect. They had convenient handicap parking that allowed us to get a nice view. We were able to park our van in a church parking lot close to where everyone was set up with blankets. William sat in my lap during the fireworks and acted as if I was his human lounge chair leaning all the way back for optimum fireworks watching. He enjoyed the fireworks. He only covered his eyes a couple of times. He was not a fan of the ones that fizzle downward and the super bright ones.
Friday, July 5th 2013:
On Friday we took the kids to see Monsters University. William watched the movie for a few minutes and decided he did not like it and shook his head no, started crying then fell asleep.
Saturday, July 6th 2013:
Mr. Lightyear Balloon, William (Buzz), Juliet (Woody)
& Brooklyn (Jessie)
On Saturday we celebrated William's 2nd birthday! William's actual birthday is on the 18th, however since Rachel and her family were in town we decided to have an early birthday party! The theme was Toy Story!
William and his Buzz Lightyear
William has been into Toy Story lately. In fact he has figured out how to ask for Toy Story with his talker. We have not spent time programming the one we are currently learning on since it is a loaner and we are getting a new one soon. So of course there is not a button for "Toy Story" but there is a "Mr. Potato Head" and "Stuffed Toy". He has taught himself to push these two buttons to ask for his movie.
William had a great time at his birthday party. I think William's favorite present was his very own Buzz Lightyear!
Ava, Mr. Lightyear and Apolo
Later that evening, we got a visit from the Cooke Family!! It was great to see Nick, Mavis and the kids!! We even got Ava and Apolo to pose with Mr. Lightyear.
To Infinity and Beyond!
Sunday July 7th 2013:
Sunday was the Where There's A Will There's A Cure's Bash at the Ballpark Event at the Kane County Cougars Minor League Stadium (a class A-Affiliate of the Chicago Cubs). We reserved the outfield party deck for our friends, family and supporters.
The Cougars were awesome to work with. They really made sure William and our guests had a good time.
All the kids were supplied with kid zone passes. The kid zone was located directly behind the party deck and contained face painters and bounce houses! Below are pictures featuring Brooklyn and Juliet with their face painted like pirates. William got a small baseball temporary tattoo. As you can tell from the photo with Brooklyn he is not a fan of face painting. In fact we had him sitting near the face painter where he could watch Uncle PJ play basketball and he got upset. I think he thought he was in line for face painting.
William and Pirate Brooklyn
Pirate Juliet and William
Ozzie the Kane County Cougar's Mascot even stopped by to meet everyone!
Juliet and Ozzie
William and Ozzie
The Bash at the Ballpark turned out to be a great day with family and friends! Thank you to everyone who joined us at the game! (click here to see more from the day.)
At the end of our four days of fun pack adventures with the kids William began vocalizing! We brought him home from the game because he was getting hot and falling asleep in his chair. Once home he was wide awake and vocalized for 45 minutes (see video below)!! William hardly ever vocalizes or communicates with sounds so this moment was very exciting!
It is almost one year ago we came very close to losing our sweet boy and chose to have him trached and vented. Almost one year ago we stopped hearing that little voice babble and say mama. I have watched this video a countless number of times. I can not put into words how happy it makes me to hear his little voice again.
People who have visited our home have told us that they did not have an understanding of William's daily medical treatments until they saw it first hand. We are posting these videos to give a portrayal of Williams's daily care. DISCLAIMER: These are not medical videos or "how to" videos.
To start our morning, William gets a nebulizer treatment of multiple medications including albuterol and pulmocort. These medications are administered through the ventilation tubing (circuit). This is done every morning and evening. In times of sickness the medications may be administered every four hours. The purpose is to loosen secretions so they can be suctioned out with a suction catheter.
The next videos show the shake vest. It is also called a smart vest or percussion vest. This vest uses a vacuum to inflate and deflate a wrap that goes around William's chest. The purpose of the vest is to shake out any mucus that might be stuck in the airways. William has to endure this for 20 minutes in the morning and 20 minutes at night. We might do this more often if William has a respiratory infection. This is one of the machines that we believe had kept William out of the hospital. Notice the suctioning in the first video. Suctioning is done throughout the course of treatments to remove the secretions. A suction catheter is attached to a suction machine. The catheter is inserted directly into the trach.
After the breathing treatment and the shake vest we move to the cough assist machine. This machine blows air into the lungs with force and then sucks it out with force, mimicking a cough. The machine mimics five coughs and then the suction machine is used to pull out the loosened mucus. The process helps prevents mucus plugs. This machine is used immediately after the nebulizer treatments and shake vest. In tandem, these treatments remove the mucus that cause breathing difficulties. Again this is done twice a day with additional treatments as needed. The entire process takes about 45 minutes. So we spend at least 1.5 hours per day giving these treatments.
Food. William cannot swallow without aspirating. His food is pumped directly into his stomach though a G-Tube. As you can see the food placed into a bag. A pump moves the food through the G-Tube into his stomach thereby avoiding the airway.
