Getty Owl Foundation

Good Things!

From Kate:

Lots of great stuff has been happening for Getty and I just wanted to share. We are proud of her and I feel like I have been bursting at the seams to finally put it down into words.

Monterey

A few Friday’s ago I called Mark while at work and said, “Let’s go to Monterey.” We have never done anything spontaneous since Getty’s dx. We have always carefully planned out where we would be going, how long, what to expect, figured out all of the worst case scenarios, etc. So to call Mark and throw out a last-minute trip was scary but exhilarating.

I always felt like a getaway needed to be at least a few days. Day one is always a wash because it includes unpacking and setting up everything. The last day is a wash because it includes taking down and packing.

So how many days do we need to actually need really feel a sense of relaxation? We have never tested that. After this trip we realized that we need at least two additional nights to really feel relaxed and give Getty time to explore.

We had a blast! The weather was perfect.

We got a chance to go to the aquarium. Getty got to touch all kinds of little creatures there, and we were even able to go behind the scenes to let Getty see where all of the baby jellyfish are. That was so cool. Getty’s eyes were big and she was very serious watching them move around. We talked about the jellies from Finding Nemo and tried to relate to something she already knew. It was so wonderful to see her eyes light up.

This weekend, Mark and I learned a big lesson, and that is, we can be spontaneous. We can load that van as quickly as possible and perhaps we can continue to do little trips like this so our little lady can continue to explore her world. We had a great time.

Around the House

It is not always easy to get out of the house, so we try and find some fun things for Getty to experience even within the confines of our house and in the back yard. The weather has been really nice to be in the backyard. We have a nice patio area where we can wheel Getty around and access.

We played with bubbles, we picked flowers, and this past week, Grammy stayed with us for a few days. One night, Grammy and Getty had a camping night, and it was so much fun to watch them interact.

Superhero 5K

This past Sunday, we took part in a terrific run: Superheroes 5k in Downtown Sacramento. We were eleated to have our Getty Owl Foundation booth to spread awareness, and Getty got to not only dress up as Super Getty, but she got to meet some of her superhero peeps. It was a terrific day.

Chickens

This topic may be a constant topic on our blog. Getty loves her chickens. She is so vocal when they are around her. I love that they are encouraging her in ways that perhaps Mark or I could not offer. She loves to talk and we think we are getting Getty pretty good at saying, “Hey, chick, chick.”

Agnes, Mildred and Ethyl have all become far more comfortable with us, especially Getty. We try and get out at least once a morning, just so Getty can feed them treats and squawk with them.

If you listen carefully, you can hear Getty not only talk to her feathered sisters, but you might be able to pick up her saying “chick, chick, chick”.

Click for Chickens!

Happy Father’s Day!

From Mark:

After a long day at work, I come home weary, change, wash up, and then it happens. I quietly stroll into Getty’s room and see her lying peacefully in bed. The feeding pump softly churns. The vent whispers and hums. I admire her steady rhythmic chest rise and fall. She is content and healthy.

I feel a subtle sense of gratitude to all those who took the time and effort to provide all the specialized things Getty needs just to be with us. More importantly, I appreciate that Kate has delivered Getty yet another good day.

She has recently awaken from her nap, and she watches her animated shows intently. On occasion, she hoots and giggles at her show. I take a moment to stand behind her and just listen.

It’s as if she’s talking to the characters, laughing at the silly things they do, maybe singing with them. Sometimes, she belts out a holler, echoing through the entire house. Maybe she’s trying to tell them what to do, with sass. She’s good at that.

SMA has robbed her of the oral skill to form clear words. It has robbed all of us of truly hearing what she has to say. Honestly, that pains me at times, but I try not to dwell on it. I look right past her limitations and see a beautiful little girl. I delight in her chirps and take fatherly pride in her bellows. “The kid’s got lungs!” I think to myself.

I get close and slowly inch my face into her view. Her eyes dart to meet mine, and the whole of her face beams with a genuine and loving smile. She can’t say, “Daddy’s home!” — but she can.

I give her smoochies all over and provide the hugs I’ve been saving up. I move her arms and legs about, clap her hands, have her pat my cheeks and honk my nose. She laughs and laughs and laughs.

I settle her down and back away. Her eyes and squeals insist we “Keep going!” We give it a few more go ’rounds, and love it!

These are the kinds of moments that warm our hearts and invigorate our souls. These are the little things SMA Dads do.

Cherishing, laughing, playing, kissing, bonding, and loving through it all — these are the things Dads do.

Happy Father’s Day!

Father’s Day is Coming Soon, Honor Your Superhero!

From Kate:

Father’s Day is coming up on Sunday and I wanted to offer a new and fun suggestion for families to take part in. We all know that your dad is a superhero and so honor him by running or walking in the Superheroes 5K this Sunday at Capital Park in Downtown Sacramento. 

Our friends at Capital Road Race Management are putting on a great race to honor dad! 

Getty and I will be honoring Mark that morning. All three of us will bundle up, put on our capes and walk the route in honor of Getty’s awesome daddy.

CRR has also been extremely gracious and offered all participates that enter the code: Hoot $2, from each registration will go straight to Getty Owl Foundation.  Thank you guys for thinking of us and your continued support.

We hope many people come out. What a great way to honor dad!

If you know you cannot make the event, but would still like to donate we have set up a fundraising page to help meet our goal of raising $1,000. Help us blow this out of the water! Donate HERE!

I am ironing Getty’s cape tonight. A superhero needs to be ready to go at a moments notice. 🙂

Boy That Was Not Easy!

From Kate:

Since Getty’s diagnosis and later the creation of Getty Owl Foundation, I have felt as though my heart has really been focused on SMA awareness and helping families. I want the world to know that what has graced our family can happen to any family.

Quick Facts:

1 in 40 are SMA carriers, which is roughly 11 million people in the US that most likely, are unknowing carriers.

SMA is the #1 genetic killer of young children.

1 in 6,000 births are to a child with SMA. 60% of those diagnosed is to the most severe type: Type 1. Getty is type 1.

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

So why aren’t people flocking to a genetic counselor to get tested to see if they are carriers? Why is SMA carrier testing not part of standard of care? I mean, did you see the statistic of 1 in 40? Isn’t that enough to raise an eyebrow of curiosity to see if you are a carrier or, in the very least, educate yourself, your family, and/or your children?

I naively assumed people would flock to get carrier tested. I am sure some did, but my guess is that most have not. If this gives you any indication to why I think more people are not is because our own family members have not gotten tested.

None of them.

SMA is genetic. It lies in my family as well as Mark’s family. It lives among all of us in certain regards, not just with Getty.

We receive lots of feedback in general since creating the foundation. We get lots of great questions and have an overall terrific dialogue about SMA.

There are a couple of common remarks that keep popping up that I wanted to share:

-I couldn’t be a carrier, I have healthy children.

-There is no family history, so there is no way I could be a carrier.

-Maybe I am a carrier because there is muscular dystrophy in my family.

-I am a super active person, no muscle weakness, I am not a carrier.

Let me offer responses to these comments to help dispel any misinformation.

-Having healthy children does NOT mean you are NOT a carrier. If both parents are carriers, you will always have a 1 in 4 chance of having a child with SMA. There is always a 25% of having a child with SMA with each child.

-We have no known family history either and in the vast SMA community, we know of only two families that actually knew of any family history. If you go back far enough there may be a misdiagnosed SMA case in a family without even knowing it. SIDS could easily be an SMA case. Again, had I placed Getty on her tummy overnight, Getty easily could have suffocated with her diminished lung capacity and could have become victim of SMA without even knowing that there was something bigger going on. Had Getty contracted pneumonia before diagnosis, the acute care that is needed for a child with SMA might have gone unnoticed and she may not have made it through a sickness.

-Yes you should be carrier tested, but having history of MD in the family linage does not mean SMA is or is not present. SMA is its own recessive gene.

-SMA carriers are asymptomatic. This means carriers have no SMA symptoms.

So where am I going with this, other than trying to convince more people to get tested?

During Getty’s MDA clinic appointment a few Monday’s ago we got a chance to meet with our family’s genetic counselor. They have been a terrific department to work with and they continue to help us with Getty’s ever-evolving dietary needs. In this particular meeting we asked about genetic testing.

I wanted to take the genetic carrier test offered through our health care provider by the company, Counsyl. This carrier test covers over 100 possible genetic conditions/diseases.

There were a few reasons I wanted to take the test. One was purely out of curiosity/education. If it came back that I was also a carrier of other genetic conditions, I could alert my entire family that they also might be carriers of each or all of them. Another reason is because Mark and I have not closed the book on possible other future children. The more education we have of our genetic make up, the more informed decisions we could make. Only I was tested, not Mark. He would have only been tested if something came back positive from my test.

We paid out of pocket; insurance did not cover it. This, however, does not mean that all insurances plan will not cover it for others; but ours does not.

Our genetic counselor got the test, registered the test in my name, and handed it over to me. It took about ten minutes to go from, “I would like to be tested”, to, “Here you go, I will get you the results when they become available to us.”

I brought the blue box home and was actually excited to get started. The home test involves just collecting your saliva in a vial and mailing it off to a lab.

Oddly enough, I ended up not doing anything. In fact, I left it in a room and ignored it for several days. I would pass by it once in a while and I started to question whether I wanted to do it or not. Then something hit me.

Is this why many people do not get carrier tested for SMA and/or other genetic conditions?

Is it better to just not know?

Is there comfort to be out of sight out of mind?

Is it too emotional to know that one might actually be a carrier of a genetic disease/condition?

Many of those emotional thoughts did run through my head. One of the tests was for SMA. So I knew for a fact that I was a carrier to at least one, but what if I was a carrier of more? What do I do with this information, other than letting those in my family know that I am?

So after staring at the test for a week, I finally took it. I mustered up enough saliva to fill a tiny vial. I mixed two solutions together in the vial and packed it up in a pre-paid Fed Ex package to be easily shipped out.

Then the wait began.

I got the call yesterday and the Counsyl test showed I am not a carrier of any genetic diseases/conditions on the list, except SMA.

I was relieved.

I am glad I took the test. I am glad I know more about what lies in my genetic code, or rather, does not. This can only help educate my family linage.

There is an emotional aspect to getting tested. The phrase, “ignorance is bliss” seems to hold some weight I think in this department. I mean here I am, a known SMA carrier, with a child with SMA, and I even stared at that box for a good week before I just “went for it.” But now that I know, I feel empowered, and now I can educate my family. Education does feel powerful.

But boy that was not easy.