Getty Owl Foundation

Battle & Soup du jour

From Mark:

Kaiser denied or request for “expedited review” in which we asked Kaiser to pay for us to go see one of the top SMA experts in the world at Stanford. Kaiser thinks it has all the expertise it needs in-house, despite the fact that the leading SMA experts in the world, who see SMA kids all the time, recommend one thing while Kaiser, who sees maybe a handful of SMA kids in a decade, recommends something else.

Today, I appealed the denial and argued our case before the Kaiser expedited review panel. I presented the details of our case, but my argument essentially boiled down to the notion that we need to see an outside expert at Kaiser’s expense because Kaiser lacks SMA expertise in-house. My hopes of successful appeal are low because if Kaiser grants the appeal, then in doing so, Kaiser is tacitly admitting its physicians lack sufficient expertise in handling SMA cases. I can see where Kaiser might find making such an admission potentially problematic.

I gave it a good shot. We’ll get the decision in a few days.

I also arranged a phone consult with gastro for tomorrow to review the post-op PPN feed issue I discussed in previous posts. I tried to get Dr. Swoboda’s office to join in the call to give me some ammunition to fire at our Kaiser gastro in our quest to get the PPN feed. Unfortunately, Abby at Dr. Swoboda’s office isn’t available, so I’m on my own to find out why our gastro disagrees with one of the top SMA doctors in the world. If our gastro still disagrees with PPN, I will be taking diligent notes and hopefully running our gastro’s reasoning through Dr. Swoboda’s or Dr. Schroth’s office later.

In happier news, we really enjoyed having a wonderful dinner at Stacey Ball’s home. She made a wonderful soup. It was more of a stew than a soup, but I liked the title of this post.

Despite being a new mom, Stacey has volunteered her time and energy to put the entire GETty Crafty Craft Fair on pretty much all by herself. We cannot thank you enough, Stacey, and everyone who has contributed in any way to our Little Owl’s cause!

THANK YOU!

Zealous Advocate

From Mark:

I am accustomed to being a zealous advocate in my normal everyday life. That term takes on a whole new meaning when you are fighting for your sick child. The battles with our doctors continue, and I am proud to be my daughter’s zealous advocate.

We weighed the pros and cons, and we decided to get Getty a G-Tube and also a Nissen procedure. The G-Tube is an easy decision, as Getty will lose swallow function some day and the G-Tube will allow her to eat.

The Nissen is designed to prevent future reflux and potential reflux aspiration pneumonia. The procedure is a bit more controversial, but as Kate and I see it, the cost-benefit analysis leads us to the conclusion the Nissen is the way to go. Not getting the Nissen means there is a risk of future reflux aspiration pneumonia, and the risks of getting the Nissen don’t seem so bad in comparison.

The majority of SMA1 kids need a Nissen at some point and SMA1 kids lose strength with each passing day. So it is best to do these procedures now, as a preventative measure, while Getty has the strength to endure the surgery rather than reacting to some potentially horrible situation later, when she may lack the strength to undergo surgery. We scheduled the procedure for mid-November.

The issue is now how to properly do the procedures. An SMA1 child undergoing a surgical operation must have proper nutrition and must have proper ventilation support post-op.

Our gastro thinks a normal glucose IV should be enough. However, the SMA community tells me Getty needs a PPN feed instead. PPN is essentially an IV with additional nutrients in it, not just sugar water.

Our pulmo thinks it is good enough to have a BiPAP breathing machine on stand-by if it appears Getty needs it post-op. However, the SMA community tells me Kaiser needs to put Getty on BiPAP automatically post-op, whether it appears she needs it or not.

I have been studying these issues for a couple weeks, communicating with the SMA community, and communicating with my doctors. I have been trying to push our doctors into following protocols as provided to me by the SMA community.

We met our Kaiser surgeon this week, and he’s a jerk. We were asking him all kinds of questions about proper surgical protocol, and he was offended that we were challenging his opinions based upon information from the SMA community. We told him the information we are getting from the SMA community is based upon input from the handful of leading SMA physicians in the world. He wrote them off as “academics” who publish impractical papers to further their own careers. He told us he agrees with our gastro that there will be no PPN, and he agrees with pulmo that there will be no BiPAP involved. We were shocked to hear for the first time the idea that there will be no BiPAP involved at all.

The next day, I continued to do all I could to advocate for our girl. I got hold of  and spoke extensively with the office of Dr. Kathryn Swoboda, one of the top SMA doctors in the world. Her office assured me she was a practicing physician and not just an “academic.” She also told me when their office performs any surgical procedure on an SMA child, they use  a PPN feed and they put all SMA kids on BiPAP post-op. In other words, my doctors, who maybe see a handful of SMA cases in a decade, are not following guidelines established by the top SMA doctors in the world, who deal with SMA kids routinely.

I immediately put in calls to our gastro and pulmo to challenge their practices based upon input from Dr. Swoboda’s office. Thankfully, Dr. Swoboda’s office even said they were willing to talk to our Kaiser doctors directly to convince them to change their practices.

I then wrote a cold email to our surgeon to challenge his practices and to inform him he is mistaken to write off Dr. Swoboda and other top SMA doctors as merely “academic.” He wrote me a quick note back saying he simply agreed to do the surgery, and if I had a problem with how it’s recommended then I should take it up with gastro and pulmo. He will follow their instructions.

After leaving messages for gastro and pulmo, I called our pediatrician for help. I told her the problem, and she offered to help. She got a hold of our pulmo, and that led to a conversation between pulmo and me. Pulmo said there must have been be a miscommunication. He was not recommending no BiPAP at all; instead, he was recommending BiPAP as needed based upon post-op observations. This put my mind at ease, somewhat.

The SMA community has been advising me to get Getty on BiPAP pre-op as well as post-op because when you put a kid on BiPAP for the first time, they struggle with the machine and cry a lot. They just are not used to a machine blowing air into their little face. So, if you try to start BiPAP for the first time post-op, then the patient will waste a lot of energy struggling and crying when they should be devoting all their energy to recovery. Pulmo said there is pretty much no way to start BiPAP pre-op, as I had asked.

I was unable to get a hold of gastro to talk about the PPN feed.

The next day, I spoke to another SMA father*. He told me post-op BiPAP should be mandatory and not discretionary based upon post-op observations. An SMA child inherently needs breathing support post-op so they can recover from surgery without having to struggle to breathe. Even if she looks like she’s breathing fine post-op without BiPAP, she is wasting her energy trying to breathe when she should be using her energy trying to recover.

He also confirmed the need for pre-op BiPAP acclimation, for the reasons stated above. He also said we need to get Getty used to a BiPAP machine at home right now so she will be accustomed to it by the time the surgery is done.

This SMA father also told me we need to do a PPN feed post-op because using straight glucose IV does not give SMA kids enough fuel to properly recover.

When his child went to see Dr. Mary Schroth, one of the top SMA doctors in the world, they walked out of her office with a prescription for an at-home BiPAP machine right away. He said an SMA1 diagnosis alone inherently justifies an at-home BiPAP machine prescription.

The bottom line is … our doctors are doing it wrong and they need to be corrected.

What we want is (1) pre-op home BiPAP acclimation; (2) automatic mandatory post-op BiPAP; and (3) a post-op PPN feed. To make matters worse, it is my understanding that there is no harm in doing it this way. Our doctors just don’t see the need and are not doing it based upon our request alone.

This SMA father also told me he would try to get Dr. Schroth involved in our case. I truly hope Dr. Schroth is willing to help set our Kaiser doctors straight with a couple of conference calls. I am honored that this SMA father is helping us and is willing to try to get one of the leading SMA physicians in the world involved on our behalf.

Not only do we have to fight SMA while working full time, we have to fight our doctors. It’s so sad and exhausting. I have spent so much time and energy on these battles, advocating for our Little Owl. If we didn’t have the SMA community in our corner, we would just quietly accept whatever our doctors told us. I feel sorry for SMA parents for having to grapple with SMA in general, but I especially feel sorry for those SMA parents who never get connected to the SMA community. I can only image all the bad medical advice they follow unknowingly.

*Name withheld for privacy.

Isn’t it time for awareness?

From Kate:

I was kind of in a fog as I was driving into work on Friday. Lots of thoughts racing around in my head. All things concerning Getty. Frustrations about doctors mainly and then also frustrations about the lack of awareness for SMA. When Mark and I were given Getty’s diagnosis we had not only had never heard of SMA, but we were equally in shock that this was a genetic disease and that we were both carriers. I remember instantly trying to rack my brain as to who in my family had this and no one came to mind, Mark as well. The diagnosis was terrifying, horrible, and feeling like we were both hit by a truck would be an understatement.

So as I drove on Business 80 to San Juan High School I did a quick, and mind you, unscientific experiment. I drove a bit slower than usual and allowed cars to pass me. I counted every 40th car and thought, “she could be a carrier.” I did this five times before I got to school.Is it possible that those same people I picked out  have been affected like my family? Is it possible that they already know they are carriers? Is it possible that they have absolutely no idea what could happen to them in the future? Too be honest I dwelt more on the latter. I don’t think the greater population knows what they are carriers of. And not knowing, unfortunately, has the potential to have them sitting in a neurologist’s office  in silence, in shock, and in disbelief that this is the diagnosis of their sweet and innocent child. It breaks my heart every time I think that we aren’t the first family affected by SMA and at this point we will not be the last.

A few statistics I grabbed from the amazing family of Gwendolyn Strong

http://gwendolynstrongfoundation.org/about_sma

SMA is the #1 genetic killer of young children.

SMA is estimated to occur in nearly 1 out of every 6,000 births.

1 in every 40 people, or nearly 10 million Americans, UNKNOWINGLY carries the gene responsible for SMA. Few have any known family history.

SMA is a pan-ethnic disease and does not discriminate based on race, ethnicity, or gender.

There is currently no treatment and no cure, but the National Institutes of Health (NIH) selected SMA as the disease closest to treatment of more than 600 neurological disorders.

Researchers estimate that a viable treatment and/or cure is attainable in as little as 5 years – IF provided adequate resources.

If more awareness happens and more money is donated to research, I can’t help but believe something incredible is possible. If anyone who is reading or knows anyone that has any media contacts to help give SMA a voice, thank you in advance. I will post some incredible foundations that are currently doing an awesome job raising awareness and money for research.

http://www.sophiascure.com/

http://gwendolynstrongfoundation.org/

http://www.miracleformadison.org/

The GETty Crafty Craft Fair is growing!

From Mark:

The GETty Crafty Craft Fair fundraiser on Oct. 16 in Sacramento has over 70 vendors, music, raffle prizes, Good Day Sacramento television coverage, and now 92.5 FM radio coverage. The generosity of others is amazing!

Thank you to Stacey Ball for coordinating the whole thing and for anyone and everyone who participates in any way.

For more info., please check out our Upcoming Events!

HOOT! HOOT!

Welcome to Holland?

From Kate:

It has been difficult these last few days for our family. Trying to just sort out so much information in such a short amount of time has been testing and frustrating. Making sure the medical team is on the same page with our needs and wishes has been so incredibly surreal. Like Mark said before, who knew we would have to fight and arm ourselves so much to make sure everyone knows how to take care of our precious Getty. We are no longer in the fog, we get it, we know our next steps and if anyone gets in our way, oh boy I would hate to be that person. 🙂

I received a really inspirational parable that was given to me by a dear friend. Thank you Meri. I hope the author does not mind me sharing it. My purpose for sharing it, is because though I draw strength from the message, I believe it also has a universal message of acceptance and understanding. Those things we hold so tight perhaps need some re-evaluation.

Welcome to Holland by Emily Perl Kingsley

I am often asked to describe the experience of raising a child with a disability, to try to help people who have not shared that unique experience to understand it, to imagine how it would feel: It’s like this…..

When you’re going to have a baby, it’s like planning a fabulous vacation trip to Italy. You buy a bunch of guidebooks and make your wonderful plans. The Coliseum. The Michelangelo David. The gondolas in Venice. You learn some handy phrases in Italian. It’s all very interesting.

After months of eager anticipation, the day finally arrives. You pack your bags and off you go. Several hours later, the plane lands. The stewardess comes in and says, “Welcome to Holland.”

“Holland?” you say. “What do you mean, Holland? I signed up for Italy! I’m supposed to be in Italy. All my life I’ve dreamed of going to Italy.”

But there’s been a change in the flight plan. They’ve landed in Holland and there you must stay. The important thing is that they haven’t taken you to a horrible, disgusting, filthy place, full of pestilence, famine and disease. It’s just a different place.

So you must go out and buy different guide books. And you must learn a whole new language. And you will meet a whole new group of people you would have never met.

It’s just a different place. It’s slower-paced than Italy, less flashy than Italy. But after you have been there for a while and catch your breath, you look around…….and you begin to notice that Holland has windmills…and Holland has tulips. Holland even has Rembrandts.

But everyone you know is busy coming and going from Italy……and they’re all bragging about the wonderful time they had there. And for the rest of your life, you will say ….

“Yes, that is where I was supposed to go. That is what I had planned.”

And the pain of that will never, ever, ever go away……because the loss of that dream is a very significant loss.

But…….if you spend your life morning that fact that you didn’t get to Italy, you may never be free to enjoy the very special, the very lovely things…..about Holland.

And that is where Mark and I are. Holland is our new destination and we have bought the guidebooks, Getty is in her stroller, Cooper is leashed up and we are ready for a glorious walk together as a family.