From Kate & Mark,
This past year has been an absolute blessing for our family. We got to share and celebrate Getty’s 2nd birthday. Our little lady continues to grow leaps and bounds. Following SMA protocols and her specialized diet, we have been lucky enough to keep her away from the hospital, aside from her infrequent routine doctor visits.
Getty now has a teacher she loves, who comes to the house every week. They sing, read, and are silly together. This next year we will be talking Pre-school!!!!!!!
Getty wakes up with a smile on her face, every morning and from every nap, that warms our hearts like you would not believe. She loves life to the fullest and as she grows, only gets more funny and cuter. She can be a stinker, but in a sarcastic way, which we love and makes us giggle.
This past year we were able to go to the zoo, a baseball game, the Russian River, the forest, Fort Ross, the ocean, restaurants outside, touring Christmas lights, and many, many walks to the duck pond and park. Getty got to meet her cousins, uncle, and aunt this summer.
Getty was also able to meet two new SMA friends: Shira from British Columbia and Kaige from Rocklin. She also got to spend time with her constant buddy, Aaron, and her new friend, Hayden. It is beautiful to have Getty around other SMA kiddos. It is a very precious time for both parents and kids to hang out and relish in our common bonds.
This year has been a year of change for all of us. We moved to a new place — one that gives Getty space to grow and the accessibility to move around. After months that turned into years, Getty now has back up equipment for all of vital needs, which is more than comforting and a relief for us. Also, with the help of an amazing family, we also have been very fortunate to get a van that is safer for Getty and gives us more accessibility and peace of mind.
After a brief trial this past spring, Getty now has the Tobii eye gaze. This in itself has changed her world in so many ways. Soon, she will all be able to communicate with the world. We are also laying the groundwork for Getty to trial a powerchair.
So many things to be thankful for and so many things to look forward to.
GETTY OWL FOUNDATION
As a foundation, we have been wonderfully excited with this year’s accomplishments. We have made great strides as an all volunteer foundation that does not pay for salaries or unnecessary administration. (Notably, not one penny of Foundation funds go toward Getty or our family.)
While it is difficult to balance caring for Getty and organizing events, we knew raising SMA awareness, helping affected families, and helping accelerate research for a treatment or cure was very important to us. One of the main points we hope gets across is that SMA can happen to anyone and if we can educate and support, then we have helped me part of the solution.
Hosting our 1st Annual Getty Owl Run/Walk was such an amazing experience. Over 900 participants, runners, and walkers took part on a brisk February morning, will be a memory we will always hold dearly to our hearts. The Run/Walk raised over $20,000. We already opened registration for our 2nd Annual. Hope you can join us.
In addition to assisting many SMA families, we are also proud to make a $10,000 grant to further the gene therapy program at Nationwide Children’s Hospital. At this time, the gene therapy program offers genuine hope for a cure.
Our 2nd Annual Hoot the Grid Art Auction was a successful in-house and online showcase of beautiful artwork from our incredible SMA kiddos and their families.
As a family and as a foundation we have had three goals: (1) spread SMA awareness, (2) support affected families; and (3) be part of the solution to help cure SMA. We are very happy to accomplish all of these this year and in years to come.
We would like everyone to be a part of this effort and ask that you please consider Getty Owl Foundation for your year-end charitable contributions. Every penny counts and we could not do what we do without you!
We are very proud to announce our $10,000 grant from Getty Owl Foundation to Nationwide Children’s Hospital! The grant will help advance Gene Therapy research as a potential cure for Spinal Muscular Atrophy (SMA)!
Thank you to all of our donors and supporters. Thank you also to Dr. Brian Kaspar and all the other wonderful researchers and staff who make this possible, providing our community with such great hope for a cure!
SPINAL MUSCULAR ATROPHY GENERALLY
SMA is the #1 genetic killer of young children. It causes severe muscle weakness, which affects the ability to move, swallow, and breathe. For most, this typically leads to respiratory problems and death at a young age.
The root cause of SMA is the lack of one specific gene: SMN1. The missing gene causes loss of SMN Protein. This leads to a loss of spinal motor neurons, causing weakness.
GENE THERAPY TO THE RESCUE!
Researchers are attacking SMA from a variety of angles. Some efforts focus on treatments by altering SMN Protein production. Gene Therapy focuses on replacing the missing gene.
SMA Gene Therapy research is very promising! The effort is led by Dr. Brian Kaspar at Nationwide Children’s Hospital in conjunction with Ohio State University.
Simply put, a special virus, called AAV9, carries the missing SMN1 gene into the body and targets the motor neurons. AAV9 is quite unique in that it is harmless and penetrates the blood-brain barrier. Inject the virus into the bloodstream just once, the AAV9 targets the motor neurons, drops off its genetic cargo, and voila . . . no more SMA!
CAN THEY DO THAT?!
So far, all signs point to yes! The data is promising and very exciting. No other SMA research has ever looked so good.
Many SMA research projects are making their way through the pipeline. Researchers work diligently, and we fight for a treatment or cure for SMA.
SMA researchers created the “severe mouse model,” also known as the Delta 7 mouse, to mimic SMA Type 1, the most severe type of SMA. Due to the severe SMA, Delta 7 mice have a life span of only about 15 days.
Applying Gene Therapy with a single bloodstream injection in the first fews days of life, the Delta 7 mice have lived well over a YEAR, just as strong and healthy as regular mice, with no ill effects!
The window of opportunity closed to provide a Gene Therapy treatment to a Delta 7 mouse after about Day 10 because the AAV9 would no longer target motor neurons. This initially suggested human patients may need to be quite young to benefit from Gene Therapy. However, non-human primate studies indicate the window of opportunity may be wide open for humans. The timing of AAV9 targeting was not so limited in non-human primate studies.
Again, no other SMA research has shown such extension of life. No apparent significant side effects or toxicity exists. Gene Therapy potentially offers a cure in a single treatment versus a lifetime of drugs. We have great hopes for Gene Therapy!
WHERE ARE WE NOW?
Gene Therapy is moving forward on two tracks, and our Grant Agreement benefits both tracks:
(1) Systemic Delivery (bloodstream injection)
The Systemic Delivery track is moving along nicely. The research team recently presented at the National Institutes of Health (NIH) Recombinant Advisory Committee (RAC). The Committee approved the program unanimously. Many Committee members were genuinely excited about the preclinical data and prospects of SMA Gene Therapy. Several SMA families attended the hearing and spoke eloquently and passionately about SMA and the hope offered by Gene Therapy.
Gene Therapy now moves forward to the Food & Drug Administration (FDA) and Institutional Review Board (IRB). This process should be complete in early 2013 with Phase 1 human clinical trials starting around mid-2013. The Phase 1 population will be younger SMA Type 1 children.
(2) Interthecal Delivery (cerebral spinal fluid injection)
The Interthecal Delivery track is not as close to human clinical trials in time or funding. Basic research still needs to be done. The budget is about $3-4 million with more pre-clinical funding needed. The timeframe for this track is about 3 years.
In speaking with Dr. Kaspar, he told us, “I truly thank you for your fundraising and support of our programs. We truly have an impressive, dedicated, and motivated research and development team, and I greatly appreciate everyone’s support and trust as I navigate these exciting therapies to the clinic.”
We again thank Dr. Kaspar and all supporters of Getty Owl Foundation. We are eager to see SMA Gene Therapy succeed in upcoming clinical trial. We appreciate all the donations and hope you remeber us in this season of giving as we close out another wonderful year.
With the holidays fast approaching, I wanted to update on how little missy is doing and how she is kicking SMA’s bootie! 🙂
Every year Getty has been receiving a flu shot as well as a monthly synagis shot. A simple cold for any of our kids can turn into a big deal. With RSV season well underway we need to be very careful to protect Getty and to let her see the world and experience life. Nice balance huh!
Kaiser originally denied the synagis shot for her, since she had grown too “old” for the shot. Basically the shot is not a vaccine, more like a shot with antibodies in it to help fight a cold if Getty is to get sick. We wanted Getty to continue to get it and so we fought and we got the denial overturned, which was not only a huge relief, but also pretty much helped us set precedence for next year’s “denial”. :). So glad I married an attorney. Mark is amazing with words and making a convincing argument. So thankful for all of his hard work.
Getty got her first shot last week. In true Getty fashion she did great. No tears, nothing. I think Lady in the Tramp trumped any kind of discomfort she may have been feeling. Thank goodness.
So now we go back every month until March to receive that shot.
We are so proud of her for so many different reasons. Overall she has a zest for life that I have never witnessed in my life. She giggles, she coos so loud and we are so hoping we can get come words out of her at some point. If not, no worries, but Mark and I are both feeling like she is so stubborn that she may actually already now how to talk, but chooses not to, because she doesn’t need to. 🙂 Little stinker. AS I write this post, Mark and Getty are singing Christmas carols in the living room and she is carrying on along with him. Such a sweet sound.
Getty and I sleep in a queen bed together and I sweat she is on the verge of kicking me off. With all of the repositioning Getty needs throughout the night, I have mistakenly moved her closer to me, and in turn has pushed me farther to the edge of the bed. I am certainly getting close.
Range of motion in her limbs has been about the same for some time. Still has strength in her wrists and fingers and in her legs. She is starting to move her head more. To ensure she can really test herself, we hold her head for her and she moves is back and forth. That is a terrific site. She is beginning to have more control of her tongue as well. It seemed to never move in and out, but I think we may have hit on something that entices that little tongue to come out. Lollipops
Somehow a strawberry Dumdum seems to do the trick. Who knew. 🙂
Next Monday Getty will be trialing a POWERCHAIR!!!!!!!! We will for sure be videoing it and sharing. I swear she is going to take off down the street. We may need a police blockade. 🙂
We are blessed, knock on wood, that Getty has remained healthy. We are doing the best we can, but we also know that even the best does not ensure success. There are many beautiful kiddos sick right now and if anyone can take a moment to send them good thoughts we would really appreciate it.
We will be sending out our annual Christmas card and since Mark and I are usually a mess, meaning it is hard to shower consistently, and please don’t get me started with my usual bed head, we rely on Getty to adorn our cards. So this year I relied on instagram to capture our little lady to wish everyone a wonderful holiday season and to hug and kiss everyone that is important in your life. And perhaps if you have more time in your day, you can find a way to make a difference in someone’s life you don’t know.
So here is our not so little owl. Boy, they sure do grow up fast, don’t they? Weighing at 29.11 lbs, and 38 inches and in just a few months a soon to be 3 year old, I give you Miss Getty Spaghetti. Happy Holidays.
An article was recently published in Health and Fitness Magazine by a friend of mine. A person that I went to high school and a person that I have always felt has carried the wisdom and old soul characteristics of our young Getty.
Damon Paveglio recently wrote a wonderful piece on our family and I wanted to share it to everyone that reads our blog. The article is on page 26. Click HERE.
As a family, Damon we would like to thank you for considering our story worthy of your time and consideration. We thank you for your thoughtful article and our hope is that through your words, more people become aware of SMA.
It is hard to quantify who or how many you touch I would assume, but please know that we believe you have helped make a difference.
Training for running way too many miles (13.1) has been very difficult. Trying to sneak in running when I can has not been easy, but so gratifying after the workout is over. A sense of accomplishment gives me a chance to seriously feel better as a mother. It has been a good 4 months since I signed up for the Santa Barbara Half Marathon. You know, a funny thing happens when you register online for a run. You get this sense of purpose and excitement and then, when the actual day comes close, boy oh boy I start to freak out. So this race was nothing new.
I wanted to participate in a couple of runs beforehand, so I didn’t make a fool of myself.
A month prior (October), I completed the local Urban Cow. What a great run, and it felt good to complete a half. It felt great to know that all my time breaking away from Getty for an hour here and an hour there was paying off athletically. How do I know this? I didn’t pass out or need an ambulance, I completed the 13.1 miles faster than I thought, AND after the run was over, I actually felt really good. Not bad. And what other run rewards your efforts with a cow bell?
The next run was NOT my idea, but one of my other halves, Takoa. We participated in the 10k Merrell Mud Run (October). Not sure how to explain this run other than to say it is muddy and difficult. The obstacles were very challenging and the overall course was fun, but again challenging. Here we are after we washed off about a ton of mud off of ourselves. It was a blast. Takoa, thank you for the push and the support to become militant. 🙂 We also received some wicked bruises, which was really cool.
Training and the two races prior led me to being “ready as I’ll ever be” to Santa Barbara’s Half Marathon (November). This trip was very bittersweet. This trip was going to be the farthest I had ever been from Getty. I have a very easy way of talking myself out of leaving Getty. Some days I get anxiety just leaving to drive down the street to Target, so I opt to just not leave. Mark is an awesome father and can care of Getty just like I, but there just seems to be this innate feeling of anxiety that follows me the moment I doubt myself and a sense of guilt when I leave her side. Once I leave, my heart rate increases and I usually turn around and come home. On the times I do leave to somewhere close by, my anxiety does wear off and I am okay.
So here is the night before I left, so I could get some good Getty & Mama (& Coopie) snuggles in before I left.
So to register for SBIM, and to travel to Santa Barbara, at times seemed so scary and so incredibly selfish. Throughout October, I was constantly rethinking my decision to go. I think what ultimately kept me focused on going was, that I would be in the company of so many wonderful SMA families. That sense of comfort got me on the Amtrak to Madera to meet up with Jen, another wonderful SMA mom to Miss Hayden, and give me the motivation to road trip with her down to Santa Barbara for two nights.
Looking back on the whole trip, it was the best gift I could have ever given Getty and myself as a mother.
That Friday we got a chance to meet up with a huge group of people supporting the Gwendolyn Strong Foundation (GSF), who was chosen as the marathon’s charity, which is an absolute honor to say the least. There were many families I knew through Facebook, but to be able to meet in person was just such a comforting environment.
By Friday night I was starting to really miss Getty. In the same moment, physically embracing SMA families from all over the country helped me feel her presence. I was very happy we had a chance to gather for a picture. Sweet Gwendolyn and Miss Lucy are the warriors, center stage in the picture. I would have given anything to have Getty there, in that moment. However, Mark and I knew the trip just would not have worked out. Too far, unreliable transportation, it just wasn’t going to be. We will get down there as a family again sometime soon.
People often ask me how I “do this.” I think what they mean is, how do you handle SMA and still smile and still fight on? Take a look at these warrior mothers, I am in incredible company. All of these ladies have been walking in the steps I am as well. They fight for their beautiful children, they don’t give up, and they all have a sense of beautiful grace. So this is how I “do this”.
So the day came. Jen and I got ready to go. We were not going to be able to meet up with the over 100 GSF runners until after the run, but we were really looking forward to that reunion.
So basically Santa Barbara is very hilly. I had not prepared for hills, but I think what got me through to the finish line was thinking of Getty and hoping she was proud of me. Hoping that she and her daddy were having fun together and making memories. The route was gorgeous, it was an honor to be there. I was proud of my time. 2:06, not bad for this old lady. 🙂 Here I am coming to the finish line. If you look carefully, I was able to personalize my running bib. Proudly wearing “Getty Mama”. It was a very proud day indeed.
Finally reuniting with some of the group. Jen, Cherisse, and Victoria. It felt great to meet up and talk about the run and how great we felt accomplishing this goal on a group level and also on an individual level. And if you think this race was hard, ask the Strongs: Bill and Victoria ran with Gwendolyn in her stroller. Mind you up those crazy hills. I bow in amazement. 🙂
It has been about a month since the run and I am constantly thinking of things that happened that weekend that will forever change me as a person. The bonds that I feel were created that weekend, feel like they will become even stronger between families. After the race was over and all the hugs, tears of joy and rejoicing in a job well done, I took some time to sit alone and think about what this all meant.
Training for this day, traveling so far away from Getty, making a goal and seeing it through, and surrounding myself with positive people who are fighting this disease as well, day in and day out. I came to one conclusion: I don’t feel alone anymore. I sat with my head in my hands and I just cried. It was a overwhelming feeling that there were people among me that “got it” and that love my daughter as their own and are doing their best as well to end this disease.
It is very easy to get overwhelmed in the land of SMA. Suctioning, breathing treatments, re-positioning, constantly watching a pulse oximeter and listening for alarms. Fighting with doctors, fighting for basic resources, trying to keep a marriage together when your life feels fragmented all the time, literally feeling raw with emotion and fatigued physically. For that moment, as I sat on the ground, hand face in hands, I was able to just be. I was able to breathe. And if that meant I needed to leave Getty and be away for a weekend and surround myself with genuine human beings that understood what Mark and I go through every minute of every day, then it was all worth it. That was my reward for commitment.
Funny to think that it really had nothing to do with the race itself. That was just the conduit to get me to the place I needed to be for that weekend to gather strength for the drive home and to be a better mother when I walked through our door. I was revived.