Sunday, November 18, 2018

The Pursuit of Happiness

This week marked four years to the day of the worst day of our lives. It was the day we found out Grace had INAD. And although so many things have changed since that day, I can remember every single detail of that one day.

It started off like any other day. Then, three-year-old Grace was at preschool in the morning, and while I was at work, I got a call from Grace’s geneticist at Children’s Hospital that they got the results of her genetic testing. The whole exome sequencing test, which looks at all 20,000 genes in the human body, was done in July, and was expected to take six months to complete. 

This photo will always remind me of the day we found out Grace had INAD, but it also serves as a reminder to constantly look for ways to be happy.

Although, to some that would seem like an eternity to wait, I don’t think we honestly thought much about it. We knew there was only a slim chance the testing would turn up any results. And by slim, they told us less than 25 percent. A friend of ours in the genetics world, said in actuality, it’s closer to 15 to 20 percent. Because although the testing looks at all 20,000 genes, science only knows what 5,000-6,000 of those genes do. 

So, we had the blood work done together in July, and then promptly forgot all about it. Grace had done other genetic testing and medical procedures to see about determining why she had some developmental delays, and they didn’t turn anything up. I just figured this test wouldn’t turn anything up either. 

And I was actually okay with that. At the time, I didn’t care if it had a name or even if Grace had a diagnosis. I just wanted her to get better. And we thought she would. She worked hard in physical therapy, speech therapy and occupational therapy several times every week, and everyone seemed to think she would catch up on her skills. We practiced hard at home, and I longed for the day she would take off walking on her own and for a chance to hear her say, “I love you, mommy.”

But that wasn’t meant to be in our world. After I picked Grace up from school, Kyle and I took her to the back of the newspaper office and called the genetics department at Children’s Hospital, certainly not ready for the news that would come.

Her geneticist, who is one of the most patient and compassionate medical professionals we have every encountered, carefully explained to us that Grace had a very rare genetic disorder called INAD, and that she would likely never recover.

It was a blow of monumental proportions, and I couldn’t even think straight. I took Grace to Litchfield to meet my mom for a standing Thursday lunch date at the Ariston and Kyle made sure to call his mom at work. I asked for a table in the back for lunch, and could hardly find the words to tell my mom that her only grandchild wasn’t likely to reach her tenth birthday.
Although Grace usually has physical therapy in Springfield on Fridays, she had an appointment at Children’s Hospital that day, so we scheduled PT a day early. I had planned to take Grace on my own while Kyle worked, but he offered to come with me so I didn’t have to be alone.

He met us in the parking lot outside the Ariston, and as we looked up, we saw a photo of the three of us on a billboard just outside Walgreens. Months before, we had agreed to be spokespeople for the Family Maternity Center at St. Francis Hospital (which is still our favorite place), and our billboard was put up that very day.

That’s one of the ways I remember the day we found out Grace had INAD. Kyle downloaded the Timehop app on my phone, and the #foreverhappydays photo from that day is a picture of our billboard.

We had done our #foreverhappydays photos for more than 180 days at that time, and had to decide whether or not to continue. My first thought was that we would never find a way to be happy again. I mean, our beautiful, only child had been diagnosed with a terminal illness that had no treatment or cure. What could there possibly be to be happy about?

It turns out a lot. And while many things have stayed the same, like countless doctor’s appointments for Grace in St. Louis and weekly trips to therapy, much has changed, like the addition of our spunky daughter, Charlotte Grace, who will turn two in February.

We use the doctor’s appointments and therapy sessions as a chance to have adventures together. Maybe we try a new restaurant or enjoy an afternoon at the St. Louis Zoo. But we always try to turn something that could be difficult into something we can all enjoy together as a family.

Shortly after Grace was diagnosed with INAD, Kyle and I had a fight in the kitchen. I was so angry that this could happen to our family. And he told me that I had two choices, I could continue to be angry, or I could find ways to be happy. He said that if I picked angry, I would miss all the really great things about Grace. 

And he was right. We decided to continue our #foreverhappydays photos. While it’s sometimes a bitter reminder of the skills Grace has lost over the years, it’s also full of happy memories and a constant reminder that life is to be celebrated.

A friend of mine sent me a bookmark once that said, “Life doesn’t have to be perfect to be wonderful.” And our life may not be the perfect picture we hoped and dreamed for, but it’s pretty great. While Nov. 13, 2014 may always be one of the worst days of my life, that photo of the billboard is a great reminder of why we celebrate life every moment we’re given.


Monday, November 5, 2018

Barbeque And Better Days

We've been pretty fortunate when it comes to doctor visits with Grace on our journey with INAD. Grace has been remarkably healthy despite this terrible disease, with just one one-day hospital stay in the books so far. We still see Dr. Ishmael at Litchfield Family Practice if Grace is seriously under the weather, but as far as specialists like orthopedics or ophthalmology, usually a routine annual visit is enough.

We had one of those annual visits on Monday as we made our way to St. Louis Children's Hospital. These trips are more of a necessity than a fun road trip, but we've done our best to make the visits as enjoyable as possible, usually adding in a trip to the zoo or a fun place to eat either before or after.

We weren't sure if that was going to be possible this time around as we were meeting a new neurologist at 11 a.m. and set up a meeting with Dr. Kotzbauer at 2 p.m. to catch up and talk about his work in INAD research. Three hours may seem like a long time, but last year they were running an hour behind at neuro so we had in our minds that lunch at the hospital cafeteria might be in the cards.

Grace was all smiles when we had lunch at Pappy's.
To be completely honest, neurology appointments have been a mixed bag for us. Some have been really good and productive. Some have not. We will leave it at that. That changed today as we had one of our best appointments period, and we're not saying that just because we told her about our blog.

Dr. Griffiths listened to us, wanted to know about Grace and provided us with a lot of information about things we had been wondering about. We even had some of the hard conversations about the future, a topic that has left us less than thrilled in previous appointments. Dr. Griffiths' compassion and the fact that she listened to us made all the difference in the world and we left Children's today with smiles on our faces.

Charley was just as excited as her dad about lunch!
We also left at 11:45, meaning that the world was our oyster in terms of lunch options. Normally on our trips to St. Louis, we go for a familiar name, literally. Grace Meat+3 has become one of our favorite places in the world, because of its food, because of its atmosphere and because of its amazing people. Unfortunately, it's closed on Monday and Tuesday, so Monday doctor appointments force us to look elsewhere.

On the bright side, one of the country's best barbecue restaurants is just a few blocks from the hospital so Pappy's Smokehouse has been our regular Monday post-appointment haunt. Grace was given a little pig on our first visit to Pappy's and Charley had her first real food there after another appointment. I have an awesome picture of her sucking the barbecue sauce off one of the rib bones.

As always, the food was excellent and the staff was super nice. Despite it being straight up noon, no one rushed us away as Mary fed Grace, which takes a little over an hour under ideal conditions. There's a level of comfort at Pappy's that is similar to what we love about Grace Meat+3. You see people of all walks of life there, all coming together to enjoy the fruits of someone's brilliant labor.

Charley loves making new friends!
After lunch we visited with Dr. Kotzbauer at his office, dodging raindrops to get from the car to his office building at the Washington University School of Medicine. The work that he is doing with gene therapy and enzyme replacement therapy is jaw dropping. Progress is never as fast as he, or we, would hope, but we know that the work he is doing now has potential to be very important down the road. It's always fun to catch up with him, tell him about what Grace has been doing and visit with members of his team. We are extremely fortunate that he works in St. Louis and is so eager to take time to talk with us.

As I said earlier, these trips could be a chore. We'd much rather be hanging out at home or doing something a little more fun with the girls, but as we've found out on our Grace Filled Journey, life is what you make of it. Ultimately, when all is said and done, we won't remember the waiting rooms and long drives. But we will remember the compassion of those caring for Grace and the good times that we get to have as a family.