“Pfizer to Develop Families of SMA Quinazoline Drug Program.
Repligen Corporation announced January 3, 2013 that it has entered into an exclusive worldwide licensing agreement with Pfizer Inc. to advance Repligen’s SMA program, originally in-licensed from Families of Spinal Muscular Atrophy (FSMA).”
Next up on the docket for the new year and new evaluations was an appointment with our pediatric orthopedic specialist. He took X-rays of the spine to look for curvature. I have been told that when a child has SMA, it’s not a matter of IF the child will get scoliosis, it’s a matter of WHEN. So we want to keep a close eye on the spine.
SMA is a progressive disease so we don’t expect to hear good news at doctor appointments. BUT, the doctor told us that Brielle has actually IMPROVED since her X-ray taken in 2011!! What a blessing!! Brooke has stayed the same (no curvature) so far. She was a little wiggle worm on the X-ray chair so I’m not sure they got the best picture. :)
We started out the new year with a sleep study. The girls had to sleep in different rooms but after they got all hooked up with wires, Brooke’s nurse let her go into Brielle’s room to so they could see what the other one looked like.
They both looked at eachother and said, “you look funny!”
They both slept pretty good and the nurses both said they got all the info they needed to give to the doctor for his review! Whew!! We should get the results back in about 2 weeks.
“A sleep study may help to determine whether or not there is an obstructive component (due to low muscle tone or enlarged tonsils or adenoids), or whether nocturnal hypoventilation (shallow-breathing resulting in low oxygen levels or increased carbon dioxide levels) is present. BiPAP is often recommended for use only at night, but can be invaluable to use for longer periods of time when an upper respiratory infection or other illness results in increased work of breathing and fatigue.
Children with SMA Type I, and some children with Type II, have very weak breathing during sleep, with short and shallow breaths, and poor oxygen and carbon dioxide exchange (hypoventilation). When this happens, the child has too little oxygen and too much carbon dioxide in the body.
When oxygen levels are too low and carbon dioxide levels are too high, the body cannot function normally. To prevent hypoventilation, some children need mechanical breathing support while they are sleeping to help them rest their breathing muscles. If they become sick with a cold or flu, they may need this support even while awake.
With improvements in oxygen exchange and better sleeping, children with hypoventilation may have less nighttime sweating, fewer headaches, better appetites and weight gain, and better concentration.
There are 3 ways to help children with SMA breathe while sleeping. These include
use of BiPAP, mechanical ventilation, and negative pressure ventilation (NPV).” -FSMA.org
Brielle turned 5 and Brooke 4 years old this year!
2012 seems to be a year of firsts for us!
Here are the firsts for our family:
- First sleep study
- Frist time bowling
- Brielle won a photo contest and was on the Cover of Kalamazoo Parent Magazine
- First time fishing
- Started aquatic therapy
- Brielle started Kindergarten
- Brooke had her first haircut
- Brielle donated her hair to Locks of Love
- First sleepover with friend, Evie H.
- Meritor Fundraiser for FSMA – Raised $2875 for FSMA
- Brielle got her ears pierced
- Our family went on our first hot air balloon ride
- B&B fed the dolphins at Sea World
- Eric went to Africa for an Army mission.
- August is declared SMA Awareness Month in the state of MI by Gov. Snyder
- Eric’s dad passed away
- Brooke had 3 stitches in her chin.
- Eric’s military promotion
- We visited our local fire department
- Our dog Mollie passed away
- We met the World’s tallest dog – Zeus
- Brooke was an Ipad grant recipient from the Gwendolyn Strong Foundation
- Our family was in a Commercial for Representative Fred Upton!
- and the best for last… Our family was picked to be the Grand Marshalls of the Disney World Dream come true parade!! On the same day, Eric was chosen to be the Veteran of the Day at Magic Kingdom Park.
The firsts for the The Friends of Brooke and Brielle Organization:
- The “flamingo flocking” fundraiser was held during the month of August to raise awareness for Spinal Muscular Atrophy. It was a great success and we can’t wait to try it again next year!
For the first time our friends have stepped in to help by selling their own goods to provide their profits to the Friends of Brooke and Brielle Organization!
- The Yummy Cupcake fundraiser held by Marianne
- I can and I will Inspirational Print created by Angi P.
- B&B SMA Awareness Bracelet created by Alex D.
- The sweetest little 5 year old, RaElla dedicated her birthday to raise money for her friends Brooke and Brielle.
- The Gwendolyn Strong Foundation created a beautiful “I Can & I Will” tank inspired by Brooke and Brielle.
The firsts for Spinal Muscular Atrophy (SMA):
- We have also been involved with legislation called, “National Pediatric Research Network Act”
- Our family visited Senator Hagan’s office in North Carolina with our Aunt Christen to enlist support for the bill.
- Our family has visited our Representative, Congressman Fred Upton, many times to enlist his support for the bill.
- Dec 4 was a historic day for Spinal Muscular Atrophy. The Recombinant DNA Advisory Committee (RAC) panel approved the gene therapy program so that it could move forward toward human clinical trials. This is important step #1 in a 3 step process.