If you’ve been following our journey over the past 7+ years, you likely know by now that August is Spinal Muscular Atrophy (SMA) Awareness Month. For others, well, it is.
SMA is a genetic degenerative neuromuscular disorder causing severe muscle weakness affecting the ability to move, swallow, and even breathe. The most common form of SMA is the most severe: Type 1, meaning affected children have never been able to sit unassisted.
As the spinal motor neurons gradually fail, those affected become effectively paralyzed and lose the ability to eat by mouth within the first nine months of life.
SMA is the #1 genetic killer of young children. 1 in 40 carry the SMA gene. The typical life expectancy is only age 2. There is no cure.
After being told in 2010 that Getty has SMA and that she would likely not live to see her second birthday, our visions of what her life — our lives — would be shattered.
Devastated, we vowed to fight for her quality of life understanding that as long as she continued to smile, we would continue to fight. Some day she may let us know that she’s no longer happy and we can’t fix it, but until that day comes, we lovingly fight for her every day.
We made the most of the 2 years we thought we were given. With the help of the SMA community, we learned doctors can be wrong — very wrong — about SMA care. We adopted SMA protocols and fought for different care options, some of which her doctors weren’t willing to provide at first. We had to find and present our own medical research to her doctors and appeal some medical denials. We won those battles to get Getty what she needed.
Those two years with Getty have now become seven. Today, Getty is very happy and healthy, despite the limitations imposed upon her by her condition. She’s about to start second grade, attending school remotely from home using a V-Go classroom telepresence robot.
She’s bright, smart, and sassy. We feared teachers might not want to accommodate her and her classmates might not want to associate with her, but so far, the complete opposite has been true. They love Getty, and she loves them back. We are very appreciative.
This journey is fulfilling but hasn’t been, and still isn’t, easy. We operate under strict SMA and cleanliness protocols every minute of every day. This also means we provide Getty a couple of hour-long mechanical cough treatments daily, make her a special blend of amino acid liquid food, put her in orthotics and slings, change diapers, carry her to bathe, roll her wherever she needs to go, bring a small hospital setting with us whenever she leaves the house, and we do our best to bring her the world. Thanks to these protocols, Getty has been sick with a cold only once in 7 years (Summer 2011).
Respiratory, nutrition, and mobility battles consumed the earlier years, then we had to overcome some education hurdles. Having secured her needs pretty well in these areas, our focus is shifting to her Spinraza treatments and her communication needs.
In December 2016, the FDA approved the first ever drug as a treatment for SMA. This has been fantastic news offering new hope to our community.
Basically, Spinraza works by causing the SMN2 “backup” gene to make more high quality SMN proteins that are lacking in those affected by SMA. More quality SMN protein means more strength.
SMA is degenerative, causing progressive muscle weakness, because motor neurons die off due to a lack of quality Survival Motor Neuron (SMN) proteins. Early intervention with Spinraza is key because while Spinraza may prevent loss of existing motor neurons, which would serve to maintain existing strength, Spinraza will not revive motor neurons already lost due to SMN protein deficiency and SMA progression.
Spinraza is fantastic for newly diagnosed families! The question remains how much Spinraza can help “older” patients, like Getty, who have already lost motor neurons.
Getty started Spinraza treatments, which consist of a lumbar puncture to administer 4 initial loading doses of Spinraza into the spinal fluid, then ongoing additional treatments of maintenance doses once every 4 months.
Since starting Spinraza, Getty has had more strength and mobility in her fingers, hands, wrists, hips, ankles, and jaw. It’s thrilling to see her move in ways she hasn’t moved in years!
Our most basic hope is to simply halt SMA progression. If she can just maintain her current strength, we would be delighted. Anything above that is a bonus. We are eager to see where these treatments might go, not only for Getty but the entire SMA community!
One problem area with Spinraza is that doctors and insurance carriers might not see “stopping progression” as “enough” to warrant continued treatment at $125,000 per dose. Stay tuned!
Many providers and carriers unfortunately have been denying treatments, forcing patients and parents to fight insurance appeals. Thankfully, so far, Getty has been receiving treatments and showing improvement!
Getty is unable to articulate words very well due to a lack of muscle control of her mouth. We can tell her mood and figure out generally what she wants through her facial expressions and eye movements. She can also use her eyes to make binary choices as she is able to look at one thing or another to choose between them.
She has a Tobii eye gaze computer, which is fantastic, but nobody to date has been able to train us how to properly use it to advance an appropriate curriculum for her. We want to incorporate it into her life as a meaningful communication tool.
This device uses sensors to track her eye-gaze and convert those eye movements into computer mouse functions, like clicking on icons. The computer can then turn those eye movements and commands into words and sentences.
If we can get this Tobii thing going, then Getty will be able to use it to fully express herself, and we can get a much better idea of what thoughts are really rattling around in her seven-year-old brain. This would remove a lot of the guesswork at to what she is really trying to say with her eyes and vocalizing hoots. We’d love to have full conversations with her!
Please join us tonight, the second Saturday of August, by lighting a candle at 8 p.m. your local time to remember and honor all SMA warriors and angels. Please help spread the word about SMA and encourage those considering children to ask their doctors about genetic testing.
Thank you and have a great SMA Awareness Month!
We celebrated the end of 1st grade with our annual getaway to the coast. We don’t ever actually get to the coast, but we get close enough to where we benefit from the fresh, cool air. I become the butt of the family joke every year because I have the best intentions to find just the right house to spend time at the beach, but we never quite get there. And I did it again. The house, this time was in Cazadera. Small town that is near Guernville and about 7 miles from Jenner, the ocean. It is always hard to find a house that is completely accessible for Getty. This one seemed to do the job for what we needed. Access in the home, comfy bed, open floor plan, tons of sliding doors, hot tub, and breathtaking views. Grammy, Chrissy, Cooper, Getty and I embarked on a one week getaway. It was nice, quiet and remarkably calm for all of us. Nothing changes about Getty’s care when we leave the confines of our home, but there is also something calming about being in a different space. Lots of windows to look out at the huge redwood trees. There was a great patio in the back that allowed us to hang out and enjoy the wilderness and escape the crazy hot conditions back home.
We were able to bring Cooper, so that was a treat. It is quite possible he slept the entire time. 🙂
Usually when we get away, we have all kinds of intentions to adventure outside of the house and sometimes we just so comfortable and snuggly, we forget all of the “things to do” list. This year, we actually got out of the house to see what kinds of mischief we could get into. We adventured to Armstrong Redwood National Park. What a great park! Redwood trees canopy the entire park and you just stroll around engaged in the incredible beauty of these trees. I think there are longer and steeper trails for people to walk, but we remained on the flat terrain. What I loved about this park was that they had designated trails for wheelchair accessible needs. Honestly, this doesn’t happen very often and I always get so happy when there is accommodation. Getty had a great time. At one point I put her head midline so she could see how tall the redwoods were above her. Her expression was priceless. “What???????” was probably a fair assessment. Her eyes kind of bugged out as she took in all of the trees and their height.
Many of the restaurants were also accessible. That’s a huge plus and they were dog friendly. 🙂 Lots of shade and space to hunker down for a good meal. We watched movies, listened to music and then Getty’s world turned upside down (for good reasons)……….She found her new show to obsess about. Let me back up and say that anytime you mix music with dancing, Getty turns into this happy ball of…….happy. This obsession is not genetic, I can assure of this. World of Dance is her new show. The house had cable and more importantly OnDemand, so we watched every single episode many times. Many, many times.
All in all the trip was a big hit. I am thankful we can save up every year for an annual trip. It is a great time to get away and just relish and reflect about the entire year. So much has happened since last year at this time. We were excited about Getty becoming a first grader. We had no intensions holding of our breath that there was a drug in the pipeline that was going to become fast tracked through the FDA and offer access within the year. We were just living life and hoping that Getty could have access to as many experiences as possible. Happy to be in the place we are in. Very excited about her continued care.
We left a bit more refreshed and with a clearer perspective. It is so nice to have a chance to reboot. So here’s to 2nd grade and 2017!
It’s time to announce the recipients of the Summertime Giveaway! I would like to thank everyone who entered. It was so much fun to see what kinds of great activities you have planned for the summer. Enjoy this great time with family and friends. Sacramento’s weather has been uncharacteristically colder, which is perfect. We will take it. 🙂
Congratulations to our recipients, from what it looks like you are going to have not only a great summer, but a busy one. 🙂
Swimming, playing softball, going to the SMA conference, and playing with friends!
Biking, swimming, and visiting family!
Fishing, trips to the zoo, grandma’s house, walks, and trips to the lake!
Walks, swimming, blowing bubbles, and going to the zoo!
Trips to the zoo, baseball games, movies, and trips to the park!
Enjoying the weather, palliates, and cheering on big sister while she participates at Special Olympics!
Trips to the park, outdoor concerts, walks, and camping!
Camping all over the place and going to the zoo!
Emma and Nick Lockwood
Miracle League Baseball, Coding Camp, walks, Disneyland and Universal Studios, and hanging out at the beach!
Summer is close at hand. For many SMA families, this is finally a time to be able to break out of their enclosed and safe places and venture out into the world. I remember when Getty was about two, we ventured out to the zoo and she loved it. Illness is no joke for any child with SMA and for any family caring and loving for their child with SMA. Following strict cleaning protocols means not only making sure the internal environment is sterile, but also making sure that while the winter could cause great havoc, staying indoors and creating a life within the walls of one’s house becomes the new normal. I have always loved Spring, but I think since Getty’s diagnosis, it has kind of taken on a new meaning. When spring rolls around, it is more of a symbolic meaning of breaking out and exploring, because summer is coming. Yes, germs are still around, but summer gives us more permission to venture out and explore without the possible chances of getting sick. Summer in California is kind of a mixed bag. In Sacramento, it can get a bit sticky and hot. 🙂 I have lived here my entire life and I often ask myself, “why do you do this to yourself?” There are so many other places to live that does not melt every fiber of your body. 😉 But here we are, here we will stay, even if it means finding every possible intervention to relieve the possibility of burning, melting, perspiring, and just overall feeling like melted goop. 🙂
So I got to thinking, and over the past seven years, we have tried all kinds of ways to help Getty tolerate the heat while we explore during the summer and I thought it would be fun to offer a giveaway to 10 families with SMA. We will be holding a giveaway starting (today) Thursday, May 25th and will be completed on Tuesday, May 30th at 5pm PST. All you need to do is email us at email@example.com with the following information.
-You and/or Your child’s name
-What kinds of activities will you be enjoying this summer?
-Submit a picture of your kiddo.
Super simple to enter. Please only send one entry. As always we are a foundation for individuals with SMA, so we will only consider those entries.
So what is in the giveaway? These are our go to ways to keep Getty nice and cool outside throughout the summer and we think your kiddos will benefit as well.
Thanks a bunch. We will be using random.org to randomly choose the 10 recipients. I will announce the recipients by 6pm on Tuesday, May 30th!
We hope everyone has a wonderful summer. Go make some memories!!!!!!!!!
Frogg Toggs Chilly Pad
Cool on the Go Rechargeable Mini USB Fan
Getty Owl Foundation Canvas Bag and Water Bottle (not pictured)
I thought blogging was going to be easy once we got to Getty’s treatments. I was hoping to jump on and post about all of the the stuff that has been happening, but man, this has been hard. There have been so many things happening and so much emotion behind it, negotiating what gets documented and what gets left out has left me in some paralysis. This is the best I can do for now.
First of all let me just say this for the record, Getty is doing awesome! She is patient, she is calm, she a soldier that just keeps going. So far not much has really bothered her. I think she is annoyed that we have to drive and stay in the hospital. Then there are times I think she appreciates the change of scenery, regardless if it is at the PICU.
Spinraza is administered into the spinal cord. I can understand how that alone can give one the heeby jeebies. Essentially a spinal tap every time this drug is administered. I WISH there was another way. But there isn’t at this time and this is where we are in this journey. We discussed this in great lengths as a family and we knew this was the right thing to do, knowing that the benefits might clearly outweigh the discomfort of an injection was what we wanted to invest in.
There were some things to consider before treatment:
-Getty would need to be admitted to the PICU for every treatment. While it is a burden (equipment, back up equipment, supplies, back up supplies, clothes, books, iPad, medication, and negotiating control), at the end of the day it made sense to us and I am glad our doctors are remaining as conservative as possible. I also appreciate their understanding that I am primary caregiver. I was not going to relinquish my responsibilities to Getty’s care to people that do not understand the nuances of SMA and Getty. The doctors and I agreed on a “drawn line” of care and we went from there. As long as Getty was stable and did not need any extra care (IV, intubation, etc.) I would remain caregiver. Deal!
-How was Getty going to handle all of this? She has always been a extremely calm and patient little girl, but would this be the deal breaker? We have been so hesitant to explain all of the details of this procedure for fear she would have so much anxiety. But after some discussion she was good to go. I wish I had a fraction of this child’s “whateverness”. Some side effects include headaches, constipation, respiratory distress, etc. Important aspects to be very concerned about post-injection. We could definitely remedy many of them, but some we could not, so we were very hopeful that the most extreme side effects would not rear its ugly head.
-The plan for the first injection was overnight observation. Again, not excited about having Getty remain all night. We were being housed in the PICU, where the most critical children go for care and often times that can be children with respiratory issues. Very nervous about sharing our space with the potential to pick something up. But, it made complete sense. Spinraza, while revolutionary, is still extremely new for EVERYONE. While there are side effects, we were not seeing very many of them come to fruition in the SMA community, so we were hoping we would be good to go. How on earth was I going to care for her if when we got her home immediately after injection if something did come up? I didn’t want to even put Getty into a situation like that. Thankfully after the first injection, Getty was doing so well, we were allowed to go home after the 6 hour observation regulation. The second injection on the 4th of April was also a limited observation stay and we were allowed to go home after the 6 hours.
The staff was terrific on both procedural dates. It was collaborative and transparent. We felt like this whole process so far has put Getty first. It is clear we are all working together to make sure she is thriving and we all have her best interest at heart.
Both injections have been done in one shot. Thankfully finding the exact spot has not been an issue. Getty has to lay on her side and remain in the fetal position throughout the few minutes of treatment. The worry as always, is her respiratory abilities to remain as comfortable as possible in a very uncomfortable position. The two doctors in charge of her care have been more that amazing. One does the injection, while the other holds Getty in place and monitors her respiratory status. So far, she has been doing amazingly. While the position is temporary, her natural position is not to have her knees into her already compromised chest cavity. So knowing she held her numbers just fine was a huge relief. Mark and I have been allowed to remain in the room while the procedure takes place. We are allowed to help get Getty into position before the treatment, which again, is a huge relief. Positioning a child with incredibly low muscle tone can be complicated and I appreciate the staff’s willingness to let us take care of her. All was taken care of in about 5 minutes (positioning and procedure).
Getty was just fine. I wish I could be more detailed but it was just that simple to her. She didn’t even wince when the needle went into her back. As her parents, were trying to compartmentalize what we “thought” she would be feeling, but again, our attempts to shelter her from any harm was futile. She was just fine and as long as Moana kept singing in her movie, all was perfect. In fact after the second injection Getty actually giggled. 🙂 I do not have a normal child. 😉
After the procedures we remained in the PICU room until discharge. All patients need to remain flat for several hours after the injection. Lucky for Getty, she already remains flat, so we just hung out and watched some movies, read a book, and just tried to relax as much as we could before loading everything up and driving home.
Post-treament has been a learning curve. It seems as though the next two after the injection, we just kind of lay low. Lots of increased liquids and around the clock Tylonel. Getty has not developed any of the side effects, thankfully she has been good. She is very tired for about three days. The first injection we did not go back to school for almost a week. After the second injection, I noticed Getty was more energetic and so in my haste I thought going back to school after two days should be good. Lesson learned for sure, she wasn’t ready and so we pulled back school for the entire week like last time. After the first injection we had some pretty crazy winds that brought some allergies for Getty. I think the combination of fighting off allergies and the 2nd injection just made her feel spent.
So the big question really at this point is what has Spinraza done so far for Getty? I think I would like to answer this in a few ways. First of all, we have no expectations. In the most positive way possible, we just want this drug to stop the progression of SMA. I cannot tell you how important that is to all of us. We have found a way to adapt this world to Getty and if we can halt this stupid disorder and let her explore in her own way without the the worry of what SMA is internally doing to her, that would be enough. Period! I have grown to learn that you can find the best diet, get the best education, best of the best for everything Getty needs to grow and thrive, but there is always SMA. SMA continues to take things from Getty and we can’t do anything about that. It is such an unsettling feeling. It isn’t fair and at times it can just feel down right shitty. However, what Spinraza brings to this equation and this journey is an ally. We finally have a medical ally that has the potential to support Getty in ways we simply can’t. This is the support we have been waiting for since July 30, 2010.
The morning of the 22nd, the day after the first injection we were already noticing some changes. I heard some robust yelling coming from her room. Getty has always had a nice loud voice. Non-verbal, but loud. Well I can tell you that her voice has become even louder and stronger. Getty has started to move her mouth up and down. Ever so slightly, but she is moving it. Something we have not seen since she was about two years old. While laying down and her legs bent, Getty can move her bent legs in an out with and without gravity. Again, something she has not done in years. Usually if you put her legs in a bent position, both legs will just kind of “frog out” and fall to the side. Now she is holding her own legs and making her own movement. The strength in her wrists are getting stronger. Getty’s ankles have also gained movement as well. I have been filming tons of footage but there has been no time to put everything together in a video yet. I am always posting videos of Getty’s progress on our instagram account. Gettyowl is the account name.
This has been a very emotional process so far. Watching Getty move in ways we have not seen in years is a bit surreal. By nature compartmentalizing has pretty much been the norm. When good or bad things happen, I need to keep as composed as possible. I do this for many reasons, one of which, if I truly allowed for myself to be vulnerable, I am not sure if I would be able to get out of bed. SMA is heavy for so many reasons. There are so many emotions that come with it and compartmentalizing has given me a chance to move forward in life, knowing very well Getty is also terminal. It isn’t normal and I am sure I will feel the effects of this technique at some point in my life, but for now it is serving a purpose. However, watching Getty move her jaw up and down and seeing the look on her face as she moved gave me allowance to lose it. I cried like I haven’t in years. The concept of having a drug in the world that Getty is able to be the recipient of and to watch the effects of it in front of my face has been a miracle in real time. Watching Getty move her legs in an out, by herself has been insane. We were watching Rogue One the other day and something pretty incredible happened. We are watching a fight scene and my guess was that she was feeling the intensity of the scene with movement. Kind of like when a person cringes with excitement, she was doing that with her legs. The quick movement in and out was her physical way of showing excitement. Beautiful!
Treatments are scheduled for every two weeks. There is a total of 4 “loading doses.” After the loading doses are completed, Getty will then receive treatments every 4 months. She is a champ and she is doing so well with everything being asked of her. We are so thankful that Getty is receiving this drug. There are MANY children and adults that are currently being denied this medication. Currently many families are fighting for care. Please keep them all close in your thoughts and prayers. Everyone with SMA that wants this medication should be offered it. Red tape is so very frustrating and so incredibly damaging to those needing the medication most.