Brooke and Brielle have both been diagnosed with Spinal Muscular Atrophy Type II. There is no cure for this disease but the National Institute of Health believes a cure can be found within the next 5 years with proper funding.
Our family has created this page to inform you about the disease, spread awareness and give updates about our life with SMA.
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!
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.
What a great year! We look forward to an even better year ahead in 2013!
Grand Marshals in the “Celebrate A Dream Come True” Parade in Disney World.
It was my dream come true. I’ve always wished to give this experience to my children and today was a very special magical day for our whole family! We met our new friend, Mr. Dean at the fire station on Main Street at 2:30pm and there, he greeted us with Mickey Mouse hats/ears with our names embroidered on the back of each and a special certificate to honor our family as the Grand Marshals of the day.
After that, we were led back behind the gated doors to the specially designed car, modeled after a 1912 touring car that serves as the first float in the parade. The car features a few special Disney touches, including Mickey Mouse-shaped silhouettes on the tread of each tire.
Photo Via Disney Parks Blog
We were helped inside the special vehicle and found our seats and magically, Cinderella’s Fairy Godmother appeared at the side of our vehicle to greet us! She gave us a handful of magic sparkles for our journey. Next, we were greeted by Aladdin and his Genie, Ariel and Prince Eric, and MICKEY and MINNIE Mouse! After lots of hugs and kisses by all of them, we were next greeted by Rapunzel and Flynn Ryder! Eugene (Flynn’s real name) showed us Rapunzel’s REAL crown inside his satchel! After a little princess talk with Rapunzel, Brooke and Brielle continued the princess conversation with Belle and the enormous BEAST! The girls were a little scared at first but Belle showed them how sweet and kind the Beast is. That helped them become brave enough to pet his furry paw and arm. Next up for hugs and kisses were Peter Pan, Wendy, Goofy, Tiana and Naveen (The Princess and the Frog), the MAD Hatter, Snow White and the Snow Prince! Then came along Cinderella and Prince Charming with the mice and the evil step sisters! Drizella asked Brielle if they could trade out sisters for a day! Brielle said, “no way!” :) Next they gave lots of hugs to Woody and Jessie the cowgirl, tweedle dee and tweedle dum, the rabbit from Alice and Wonderland, The Queen of Hearts, Mr Smee and Captain Hook, Chip and Dale, Abu the monkey and so many other characters in the parade and even all the dancers!! The girls LOVED all of the special one on one attention and hugs and kisses from everyone. It was absolutely INCREDIBLE! To see our girls SO happy made Eric and I both want to well up with tears. It was one of the best moments of my life, Eric’s life and especially Brooke and Brielle’s life.
After all of that excitement, we heard our names introduced over the loudspeaker as the Grand Marshals of the parade and the doors swept open and away we went, leading the parade down Main Street. It was a good thing I had sunglasses on because “the moment” hit me and there went my happy tears again. Our super awesome friends, Miss Kelly and Mr. Brandon took pictures and videos the WHOLE parade route for us. Miss Kelly was right outside the gates and the first person I saw and she had happy tears just like I did. :) It was such a surreal moment. We all started waving our best Princess waves (except Eric, he waved like a Prince) and I’ll tell you what - Brooke and Brielle kept their arms in the air, waving for the WHOLE parade!! To have SMA and wave your arm for about 45 minutes with no breaks is a BIG DEAL! They were really into it with their slow Princess waves and even blowing kisses to special people in the crowd. I think they won the hearts of many that day. Mr. Dean commented that Brooke and Brielle could give cupid lessons!
Can you see our faces in the middle?
At the end of the parade route, they had a special roped off area for us to watch the parade go past. Each character made a special acknowledgement to B&B as they went past. Eric and I just couldn’t believe it.
Reflecting on our past and all the rough patches we’ve been through as a family. We know what our worst days have been, starting with Eric being deployed for training while Brooke was born, to Brielle’s diagnosis of Spinal Muscular Atrophy (SMA), then Eric being deployed to Afghanistan 5 days after her diagnosis, and then Brooke’s diagnosis a few weeks after that. Suffering through my father’s death, a clinical trial commitment for Brooke and her emergency feeding tube surgery in Utah (you can read all about that here). All while trying to learn the most we can about the diagnosis of SMA. We’ve come a long way but I think Rapunzel said it best… but for the 4 of us - that day in Disney World was the Best.Day.Ever!!
Brooke and Brielle now share something in common with a few famous faces, such as boxing champion Muhammad Ali, comedian Bob Hope and Walt Disney’s nephew, filmmaker Roy E. Disney. They have all served as grand marshals in the “Celebrate A Dream Come True” Parade in Disney World! It is a day that we will never forget!
Thank you Disney World for this very special day. We will cherish it forever!
Dec 30, 2011 Brooke and Brielle had their first sleep study done to check their respiratory function during sleep to get a baseline assment. It will take 10 days get get results. Please pray for good results!
“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
Brooke and Brielle were able to have the sleep study done on the same night and they slept in different rooms. They were both very brave while the nurses put all the electrodes on their legs, neck, faces, and all over their heads. It took quite a while to fall asleep and they both woke up a few times during the night and got scared because they didn’t know where they were. Luckily mommy and daddy were able to be right there to calm them down. The nurses said they had enough data for the doctors to analyze, now we just sit back and wait for the results…
Update on Wednesday, February 1, 2012 at 3:00PM by
Sarah
The sleep study results are in… Brielle has “normal” function and we are so relieved because she was the one that we were the most worried about. We figured that Brooke’s results would come back normal as well because we didn’t think she had any problems worse than Brielle. Well, we were wrong. Brooke’s sleep study results came back with “minimal sleep apnea.” Our local neurologist noted that we shouldn’t do anything for now and just re-test in one year. In talking with other SMA families and our specialist out in Utah, they all recommended that we get a bedside pulse oximeter machine to monitor Brooke’s heart rate and oxygen saturation levels during the night and also make sure to get a bi-pap machine to use during the night, especially when she is sick. From what we have been told and what we have read, someone with SMA can go from bad to REALLY bad in a very short time. So now we need make more doctor appointments to try to get these new machines for Brooke. :( Thank you again for all of your thoughts and prayers, it means so much to us and helps us get through the tough days of living with SMA.
Looking back, this has been a very fun filled and busy year!! Brooke and Brielle made it to Disney World TWICE! Once for the Familes of SMA and the second time as flower-girls for a very special new friend. Brooke was the proud recipient of a power wheelchair and Standing Dani while Brielle was very happy to get a new manual wheelchair due to her growth! Brooke and Brielle were featured in Midwest Energy Cooperative’s Country Lines Magazine and also raising awareness on the front page of the Cheff Therapeutic Riding Center’s Newsletter! Brooke was very sick with RSV last April but thankfully she was able to overcome the virus without a hospital stay. It pushed back her last clinical trial visit at the University of Utah until August. She is doing very well but we are still keeping a very close eye on her and getting regular blood draws to monitor medication levels. Brielle completed her first year of pre-school and loved every minute of it! She has continued to take unassisted steps and can now walk 60-90 feet! What a huge step (literally) against SMA and it brought all of us to tears watching her. Her slogan is, “I can and I will’ and is featured in The GSF’s “Never Give Up!” video. August was “SMA Awareness Month” and we did all we could to raise maximum awareness. Please read in detail in the time-line below. We were fortunate enough to make two trips to North Carolina this year also! The first trip was for the “Annual Rusty Rudder Golf Outing” and the second was just for fun to visit their Aunt Christen and spend some time getting spoiled rotten. Next up was Halloween! Brielle dressed up as cowgirl Jessie and Brooke was cowboygirl Woody! They had a big suprise at hippotherapy that week to find their horses had costumes too! So much fun! November 22nd turned out to be a monumental day - Brooke took her first step(s) independently!! After having the diagnosis of SMA fall upon us, taking steps/walking is something that we never thought we would see Brooke or Brielle do. We had no idea where the future would take us and where the health of our daughters might be. SMA is a cruel disease but Brooke and Brielle have been such dedicated fighters and work so hard every single day to push the limits and keep (and even increase) their strength. Sometimes they have to miss out on playdates and other fun things because they are so committed with various weekly therapies, doctor appointments and appointments with specialists. We also have to be careful during the winter months to try to stay away from the germs of the cold and flu season. Sickness can take a huge toll on SMA children and it’s not something we want to take a chance with if we don’t have to! Hopefully a treatment/cure will be on the horizon for SMA. We know researchers are working very hard and we appreciate the support of our friends and family this past year! With your support, we were able to raise a total of $8,618.39 this year for Families of SMA in Brooke and Brielle’s name for SMA research. Thank You!!
I’ve decided to kind of do a time-line for our year in review of significant events. You can click on any links and it will take you to the original post from earlier in the year if there is something you’ve missed!
Saturday, January 12, 2013 at 12:23PM | 
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