Tuesday, February 19, 2019

A New Beginning

Just before we left, the director of the first-ever clinical trial said she thought we should take a picture with Grace of the momentous occasion that she tried her first does of RT001. And of course, that was right up our alley, so we grabbed Flat Gracie and posed for a photo.

Getting ready to fly to New Jersey.
In some ways, it marked the end of what seemed like very long journey. We first learned about Retrotope and their experimental drug, RT001, more than a year ago, when they published a press release online that there were two INAD patients taking the drug as part of a compassionate use program. The drug company has claimed that the drug is able to stop or at least slow the progression of INAD and can also help to reacquire lost skills. We immediately contacted the company, and discovered they were hoping to do a clinical trial for the drug in INAD patients, and that Grace would likely be a candidate.

At the time, they told us the trial could start as early as March of next year. We learned that things like this often times take much longer than we would like. When it didn't start in March, we heard July or August, then October, and we got a call after the first of this year that Grace would be able to travel to New Jersey and participate in the clinical trial.

Grace shortly after taking her first dose of RT001
Kyle and I have spent months and months debating whether or not to enroll Grace in the trial. At seven and a half years old, she's the oldest patient they have right now, and the cut-off age for participation is ten. We know this drug is not a cure, and that the positive effects we see may be minimal. But you never, ever know how something is going to play out, and we wanted Grace to have a chance to try this new drug. We also wanted to be able to further INAD research, and since we didn't feel the drug would have any harmful side effects to her, we finally decided to go for it.

In January, we made a week long trek to New Jersey, driving the 13 hours and taking Grace to three days of baseline appointments. It was a long week for sure, but we learned a lot, and we are so grateful that Grace is a good traveler and we met lots of nice people.

I think the hardest part of participating in the trial is that we had to return to New Jersey in two weeks to 45 days after those initial tests so Grace could have another baseline assessment and officially start the use of RT001. This visit was likely to last only part of a morning, so instead of driving the 900 miles, we opted to fly and do the trip in two days.

Checking out the New York City skyline!
We haven't flown with Grace in nearly a year and a half, and both of us were a little worried about how it would play out.   Since Grace can't sit up or hold her head up, it makes it tricky to sit her in her own seat buckled up for the take off, and the last time we flew with her, the airline broke her medical stroller.

But we pushed those worries aside (mostly), and decided it was the best decision since our trip was so short. And we couldn't be more pleased with the way everyone took care of us. When I texted that to Kyle's mom on the way home, she wrote back that Grace just seems to bring that out in people, and I couldn't agree more.  We flew Southwest, where everyone took amazing care of us. From checking us in and setting us up for pre-boarding to making sure we had everything we needed, we were very comfortable on both flights. Grace was even able to sleep across my lap.  We rented a minivan from Enterprise, which was also a wonderful experience and drove it to our favorite Hampton Inn in Denville, where the night clerk offered to say a special prayer for Grace during his morning devotional. We are continually blessed by so many that happen across our paths on this Grace-Filled Journey.

This morning, Grace had another baseline assessment, and they showed us how we can administer the drug to her each day. It's a little overwhelming. Clinical trials require a lot of data and record-keeping (and I can't say those things fall in my strong suit). But we are excited that she finally had a chance to try the drug that has helped some INAD kiddos.

A view of Lady Liberty.
I am SO proud of Grace for being part of this initial clinical trial. She has been so strong and brave through each and every exam, each and every assessment and even trying the medicine this morning. She never complains and always has a smile for everyone we encounter. She reminds us that life is always to be celebrated and to life each and every moment to the fullest. Oh, and that a smile can brighten everyone's day.

Before we headed for home, we had a little time to kill before we got to the airport. As he was driving, Kyle saw a sign for Liberty State Park with viewings of Ellis Island and the Statue of Liberty. How could we pass up an opportunity to take in such great sights? Although it was too cold to take Grace on a ferry ride to see the statue up close, we walked around and looked at the New York City skyline and stopped to see Lady Liberty. What better place to start a new adventure than at a place that marked one of the beginnings of our country.

Ellis Island and the Statue of Liberty.
So, in a way, Grace getting to try the drug marked the end of a long journey, it also marked a new beginning. Over the course of the next year, we will continue to record when she takes the drug and any progress she makes along the way. We also have two more trips to New Jersey at the six-month mark and the one-year mark to assess any improvements or changes.  Next time we go, we hope to take Charley with us and do a little sight-seeing in the area.

We won't know for awhile if RT001 will make any difference for Grace. Maybe it helps her a little, and maybe it doesn't. But we know that it's a chance we took to give Grace every single chance there is. And we are SO grateful to each and every person who helped us along the way on this amazing Grace-Filled Journey.


Sunday, February 17, 2019

Happy 2nd Birthday, Charlotte!

The day before her second birthday, Charlotte came into our bedroom first thing in the morning, all by herself. It was the first day she had figured out how to crawl out of her crib, and after startling me at first, it was cute to see her so proud of her accomplishment.

Today, Charlotte Grace Herschelman turns two years old, and it's been immensely fun to watch her accomplish so many things. From her first "da da" to picking out all the characters on the Mickey Mouse Clubhouse, we have loved listening to her learn how to talk. Kyle's favorites are "snicky" instead of "stinky" and "Goosey" instead of "Goofy." I told Kyle that one day I will miss trying to figure out all the things she is trying to say!

February 2019
She's also mastered so many other skills in her first two years, walking and then running, picking out her favorite toys to play with and giving hugs and kisses. Most of the time, Kyle and I just sit and watch her play, in awe of all the things she learns each and every day.

In some ways, as excited as we are that Charlotte is meeting all these milestones, it's a bit bittersweet at times. Charlotte has already far surpassed any of the skills Grace ever had when she was younger. Grace had a handful of words (my favorite was always "ma ma") and she knew all her animal sounds. She was able to cruise the furniture for a time and walk in a reverse walker, but she was never able to walk on her own. And that's just the tip of the iceberg. INAD has stolen so many things from her that she's not even able to sit up on her own anymore.

But INAD hasn't stolen her ability to smile, and when she smiles at Charlotte, it seems that my world is complete.

February 2018
I never had a sister, but I have always heard about the special bond between sisters. And it would seem that Charlotte and Grace have formed that bond already. Just yesterday, Charlotte crawled up on top of Grace just to give her a hug and a kiss. It was about the sweetest thing. Charlotte loves talking to Grace, and in true big sister fashion, Grace laughs anytime Charlotte gets scolded for something. That little bit of normalcy never ceases to make me smile.

Accepting that Grace has INAD means accepting that our dreams for Grace's future have changed. When Grace was a baby, we wondered what she would like to do when she got bigger. She always loved playing with soccer balls, and we thought she might like sports. We wondered if she would like school or become a writer someday like Kyle and I. Sometimes it's hard to accept when dreams change, but we also know that Grace has already made a huge impact in the world.

February 2017
The birth of Charlotte two years ago brought up all those same types of questions. We wondered what she will be like someday. Will she be the head of her class or the star of the basketball team? Will she want to join 4H or Girl Scouts? If the past two years are any indication of her determination and perseverance, I would say Charlotte will be able to do anything she puts her mind to. And I'm okay with that. I've also seen her compassion and empathy for her sister, and it's my hope that whatever she decides to do in this world someday, that she does it with kindness. That would be my greatest dream for her.

The past two years have flown by so quickly, and it seems like Charlotte has already been part of our family forever. We continue to be blessed by her spunky attitude and caring heart. We can't wait to see what the future holds for her.


Saturday, February 16, 2019

Brighten Up Rare Disease Day

This year, on the last day of February, Kyle and I will celebrate being married for ten years. And while Feb. 28 will always be a special day to us, when Grace was diagnosed with iNAD, it became special for another reason.

The National Organization of Rare Diseases marks Feb. 28 as Rare Disease Day. The main objective is to raise more awareness for all types of rare diseases all over the world. Why is this so important? Because according to the Rare Disease Day website, one in every 20 people will live with a rare disease at some point in his or her life. And many times there is no cure for these rare diseases that often times go undiagnosed.

This is our fifth Rare Disease Day since Grace has been diagnosed with INAD. And we've done a variety of different things over the years, sharing photos and videos to social media and working to get our awesome communities involved in our efforts.

Last year, we launched a Beat INAD coloring page that Kyle and I designed. We offered the coloring sheet to schools, and we were overwhelmed to see all the coloring pages all across the county. Kids and grown-ups alike shared their artwork helping us to raise more awareness for INAD.

And last year's coloring page was neat, but this year, we were blessed to have graphic designer Danielle Seago of Doodlebug doodle an awesome coloring sheet for us with the Princess Grace logo. Seriously, it's awesome, and you won't want to miss a chance to color yours.  Special thanks to Danielle for donating her time to our project, and you can support her work by purchasing some of her children's books on Amazon (Marvelous and Kind Kloey and Faith Over Fear).  

We hope that everyone loves the new coloring sheet as much as we do. We will include a copy on our Facebook page that can be downloaded and would be more than happy to email a copy to anyone interested. Feel free to share the coloring sheets with anyone you think who would like to help us raise awareness, and make sure you share the finished product with us on Facebook, Twitter or Instagram.

And don't forget that Rare Disease Day is Feb. 28. Every single person can make a difference in the life of someone with a rare disease.