Q & A about Emelyn’s natural history study experience in Pittsburgh

Two weeks ago, we headed to Children’s Hospital of Pittsburgh of UPMC (CHP) for a natural history study. It was a great trip and it’s taken me two weeks to pull out the important pieces into a Q & A for other parents considering a trip to Pittsburgh.

The Pittsburgh skyline from Mount Washington.

My goal of this post is to help you understand our experience and determine if taking part in the natural history study is right for your child and family.

Why does a natural history study matter?

First, you may be wondering, what is a natural history study? Until last fall I couldn’t answer that question. It was on our DDX3X trip to San Diego that two of Dr. Maria Escolar’s associates explained what a natural history study is and why it’s important.

Rare diseases, especially newly discovered disorders like DDX3X, are poorly understood. There are only a handful of patients in the world and each patient, typically, has a different doctor. With such a limited pool of patients and small number of treating doctors, knowledge about DDX3X is siloed. When many patients come to one doctor, like Dr. Escolar, and go through a series of evaluations, imaging, and exams, their journey adds to a collective body of knowledge. Dr. Escolar’s interest is to follow our affected children over time to collect health and development information to shine light on DDX3X.

On a micro level, natural history studies benefit the participating family. Dr. Escolar, who has seen approximately eight children with DDX3X as of our visit on April 30, 2018, can offer far more expertise than our Virginia-based pediatrician and developmental pediatrician. We are very pleased with the care our local pediatrician and developmental pediatrician offer us, but they’ve never treated another child with DDX3X (that they know of anyway), so their knowledge of DDX3X is narrow. Fortunately, their expertise in working day-in and day-out with children with special needs makes them highly skilled at helping us navigate our journey with Emelyn. However, they’re at a disadvantage due to the rare nature of DDX3X. For that reason, both our pediatrician and our developmental pediatrician urged us to participate in the natural history study with Dr. Escolar. And both are eager to see the final report from Dr. Escolar.

On a macro level, natural history studies advance collective knowledge and influence research. The collective data from all the participants can be used to gain insights on the progression of the disorder, evaluate currently available treatments, therapies, and pharmaceutical that offer benefits, and contribute to future development of potential treatments, therapies, and/or medication. Because there is no known treatment, therapy, and/or pharmaceutical to “cure” DDX3X, these natural history studies show outcomes in absence of intervention. That’s important should an intervention (such as gene therapy or a pharmaceutical) become available—the collective data from the natural history studies can serve as the control group. It’s the baseline to show the FDA the disease course for untreated patients. But more importantly, development of a “cure” requires a deep understanding of the rare disease which can only happen through studies such as natural history studies.

What is the basic flow of your time at CHP?

Each patient’s journey is a little different depending on when the MRI scanner is available and when different therapists are available. Below is our itinerary as an example only. Expect your itinerary to include the same basic experiences, but the order and timing will likely differ.

Day #1:

On Monday afternoon we met with Dr. Maria Escolar. Before our meeting, Emelyn spent the morning being evaluated by a team of folks. Emelyn really enjoyed all the therapists and Dr. Escolar. She was fully cooperative and full of giggles all day. They did a wonderful job of making Emelyn think she was part of a fun day where she was the center of attention. Each therapist was patient and engaging, plus they all used ASL (sign language) to communicate with Emelyn. You can tell Dr. Escolar and her team enjoy their work.

Behavioral audiology evaluation: This is basically a series of hearing tests that rely on a child’s behaviors versus spoken words. It took about 45 minutes.

Sarah was the clinical audiologist who examined Emelyn.

Physical therapy evaluation: This is a familiar evaluation for many of us. Emelyn climbed stairs, walked, stood up, stand down, etc. We brought a few books from home to help with positive reinforcement to encourage Emelyn to show off her skills.

Shannon conducted Emelyn’s PT evaluation.

Speech and cognitive evaluation: This session consisted of several tasks and questions to determine Emelyn’s speech and cognitive levels. While I don’t think these tests are perfect, I didn’t see anything that surprised me in her abilities or inabilities to complete the tasks or requests.

Allison and Emelyn “played” several games together.

Physical exam with Dr. Escolar: Throughout the morning and early afternoon we didn’t see Dr. Escolar, but she was clearly following up with each of the above folks to review their findings. After she examined (i.e. played with) Emelyn, we sat down and chatted for more than an hour. Not only was she fully informed of all the assessments Emelyn had just gone through, she had thoroughly reviewed Emelyn’s medical records and was prepared to answer the questions we had submitted on our paperwork. It was refreshing honestly. I can’t tell you how many doctors we’ve met with who clearly haven’t read the paperwork we’ve spend a significant amount of time completing.

Dr. Escolar examining Emelyn. There were lots of giggles.

Day #2:

On Tuesday morning Emelyn had an MRI under general anesthesia. We arrived at CHP at 7 am to be prepped for an 8 am scan. Once again everyone was great with Emelyn. While we were waiting for Emelyn, Deanna Steele, a genetic counselor who works with Dr. Escolar, came to speak with us. Her goal was to answer genetics-related questions we might have and complete a quick genetics questionnaire for the natural history study. 

Emelyn waiting for her MRI scan.

The MRI was the only part of our trip that didn’t go smoothly. Emelyn became very combative and her heart rate jumped up for about ten minutes as she was coming out of the anesthesia. After a hectic ten minutes, she dozed for about 20 more minutes and woke up without any trouble. We're blaming it on the red hair. We were on the road by 11 am to head back home.

What did you learn?

The feedback we received based on all the tests/assessments was similar to what we’ve heard from our local developmental pediatrician (just more in-depth), so that was good— it told us we’re on the right path. A summary of our visit was posted immediately on myCHP and we expect a full report in the next week or so. Here is a quick summary of Dr. Escolar’s insights and recommendations for Emelyn:

• Emelyn's physical therapist should work on her protective reflexes. She's still exhibiting some of her infant reflexes which could be deterring her from walking.
• Emelyn should utilize an augmentative device to better communicate. While she’s showing significant advances with using sign language, her fine motor skills are only at an 18-month level, whereas her receptive language is at least at a 24-month level. This leads Dr. Escolar to believe Emelyn may be frustrated that she can’t express everything she has to say using sign language because her fine motor skills are holding her back.
• Because Emelyn uses movements to compensate for her low muscle tone and for sensory issues, Dr. Escolar doesn’t recommend the use of any medications to help with her movement disorder. (This was a question our development pediatrician at UVA posed.)
• Emelyn's developmental age correlates with her attention span, therefore, Dr. Escolar did not recommend using any medications for attention deficit. (This was one of our questions...to medicate or not?)

We did ask what consistent barriers Dr. Escolar is seeing in our DDX3X children and not surprising her response was: language. Even girls who have language struggle with language. Some see a regression of their language skills whereas others, like Emelyn, are completely nonverbal. I'll be very interested to hear her present later this year in Philadelphia at the 4th annual DDX3X family conference after she's seen even more children.

Was the experience valuable?

Yes! We’ll likely go back next summer before Emelyn starts school. Dr. Escolar seems to have an interest in helping parents get their kiddos what they need from an educational standpoint and I anticipate needing her support with our local school system when the time comes. Her testing/assessments were very thorough—far more so than anything we’ve been through before. Bottom line, it was worth the trip.

How did we enroll Emelyn in the natural history study?

We contacted Mary Brannaman, Program Coordinator for Program for the Study of Neurodevelopment in Rare Disorders at Children’s Hospital of Pittsburgh of UPMC:

451 44th Street

Plaza Building, Fourth Floor

Suite 407

Pittsburgh, PA 15201-1138

Mary.Brannaman@chp.edu

P: 412-692-6350

Mary sent us several pages worth of paperwork to get the process started. Once the paperwork was returned, Mary worked with us on scheduling. Mary was super patient with me as I was very particular about scheduling Emelyn an early MRI appointment. She diligently worked her magic to orchestrate all the appointments into one and a half days. Once it was all finalized, we received an itinerary with all the details outlined. You’ll want to print this out and bring it with you.

What are the lodging options?

Mary helped us with lodging as well. She made our reservations at the Hilton Garden Inn/Pittsburgh University Place. For our two nights, we paid $299.92 ($114/night for the room, $20/night for parking, plus taxes and fees). Considering it was graduation weekend for University of Pittsburgh this rate was very reasonable, however, there may be other option. I honestly didn’t do my research. A couple things to note about this hotel based on our experience:

• There is no pool. With girls who love water, I felt that was worth mentioning.
• I didn’t find the shuttle to be worth the effort. It was well-worn and smelled like fuel, plus by the time you tip your driver each way, you might as well pay for parking (assuming you have a car). We also had to board the shuttle from the main level of the hotel which wasn’t easy to get to with a stroller/wheelchair. It required a wheelchair lift (or a Patrick to just carry Emelyn up and down the stairs in her stroller).

Mary also connected us with the Ronald McDonald House, however, we did not end up staying there. While we did fill out the necessary paperwork to be added to the waiting list (they do not have reservations like a hotel), I missed the call from them on the morning we were traveling to Pittsburgh. Once we got on the road I realized that I had missed the call and I called back. No one answered so I had to leave a message, but I never received a return call. I assume the call was to tell us we had a room, however, since they didn’t leave a message and I was unable to speak to anyone I’ll never know.

Staying at the Ronald McDonald House is an affordable and convenient option. NDRD is located in the Plaza Building which also houses the Ronald McDonald House (it’s really a hotel-like building, not a house), so you’re right there for your appointments with Dr. Escolar. From the Plaza Building, there is a breezeway that connects to the hospital for the MRI, hearing screening, and cafeteria. It’s certainly a worthwhile option to consider, just be vigilant about answering your phone the morning you head to Pittsburg and have a backup hotel reservation (which Mary can help you with).

What tips do you have?

Don’t rush yourself. Plan to travel the day before your appointment to allow for a full night of sleep the night before. While you can do everything in one day, I recommend scheduling the audiology appointment and all of Dr. Escolar's assessment on the first day and then the MRI for first thing the second day. Emelyn’s scan was at 8 am (7 am arrival at CHP) and we were on the road by 11 am to head back home.

Bring or purchase snacks for your time in the NDRD. It’s a long day. We started with audiology at 8:30 am and didn’t wrap up with Dr. Escolar until after 2 pm. There isn’t much waiting between each assessment, which is nice because it keeps things moving, but also didn’t allow for lunch. We were able to grab a snack between each session to keep from getting too hangry. (The cafeteria is close by and has lots of snack options, but don’t plan on being able to sneak off to the cafeteria, grab them before you get started.)  

Emelyn enjoying some grapes after seeing Dr. Escolar.

Children's Hospital of Pittsburgh is ranked one of America's best children's hospitals. If you need to see a specialists because you don't have access to one where you live or you want a second opinion, ask Mary for help scheduling an appointment while you're in Pittsburgh.

Sign up for myCHP so that you can access your child's health information online. It's very easy and convenient once you get back home.

Print Mary’s itinerary and bring it with you. It’s your roadmap for your time at NDRD/CHP.

Don’t worry with the hotel shuttle. Travel around Pittsburgh isn’t difficult and parking at CHP (via the Mid Campus Garage) is only $7.

If you want to stay at the Ronald McDonald House…answer your phone. They don’t leave messages and didn’t return my phone call.

Check out Pittsburgh while you're there. We rode The Duquesne Incline. It provided wonderful views of the city from atop Mount Washington. At $5 per person round trip, it's a bargain-priced experience.

Emelyn checking out the skyline of Pittsburgh from inside
the 100+ year old cable car on The Duquesne Incline.

If you have questions I don’t address above, please reach out to me at jamiesnead@outlook.com and I’ll gladly answer your questions. 

I have a confession to make

Confession: This blog exists for many reasons and one of those reasons isn’t all that altruistic.

Here are the five reasons this blog exists:

Reason #1: I want to be a resource for families. When we received Emelyn’s diagnosis in September of 2015 there was only one medical journal about mutations in the DDX3X gene and their link to developmental delays and intellectual disabilities. There was no website, no foundation, no video, no brochure...nothing! This blog was my way of giving DDX3X a real spot on the world wide web for folks to learn about DDX3X.

Reason #2: Writing is a form of therapy for me. Each blog post allows me to unpack the latest Emelyn happenings, be it joyful or challenging, in a deeply reflective way. While writing does not possess this kind of therapeutic power for everyone, it certainly does for me.

Reason #3: Language matters. I’ve developed a love of language over the last few years and it’s important for me to put thought and intention into how I frame up Emelyn’s strengths and weaknesses. I never want to speak about Emelyn in a way that evokes pity or paints an unrealistic picture. This is especially important for families who just received their child’s diagnosis. I want them to leave my blog with hope for their daughter.

Reason #4: Emelyn has a fan club made up of family, friends, church members, co-workers, friends of friends, doctors, therapists, researchers, teachers, and even perfect strangers. These are the people who love and pray for Emelyn, donate money to the DDX3X Foundation in honor of Emelyn, fight insurance companies and school systems on behalf of Emelyn, and cheer for Emelyn at each and every accomplishment. Because of the love from these folks, it’s important to me that I keep folks informed of  how Emelyn’s doing.

Reason #5: Lastly, and here is where the confession comes in, this whole blog thing was a course requirement. Yes, that’s right, I had to do it! In early September of 2015, as I sat in my fourth course for my masters degree, I was informed by Dr. Ken Nicely that one of the course requirements was to start a blog. Seriously! What the heck was I going to start a blog on? Couldn’t I just write a paper or take a test. Then, as divine destiny would have it, just a few days later came the call from our genetics counselor with Emelyn's DDX3X diagnosis. It was that sequence of events that led to this blog.

While that course ended in December of 2015, the blog has lived on. No longer is this blog a four-credit course requirement for graduation—instead it’s a labor of love to share Emelyn’s story with you and to raise awareness about DDX3X.

It’s not always easy to keep current on the blog—for me as the writer and for you as the reader. We live busy lives. Some days I grow weary of writing. Between work, school, and volunteer work I have far more screen time that I’d like, but today I had confirmation that this blog matters. A mom from Australia was doing what every mom does when you have an undiagnosed child and desperately needs answers—she turned to the internet. This particular mom found this blog and saw her daughter in the words and photos of Emelyn. She visited DDX3X.org to further her research. With her momma-gut guiding her, she consulted her daughter’s doctor and requested they look for a change in her daughter's DDX3X gene. Turns out, her momma-guy was right. Her daughter has a mutation in her DDX3X gene. Not only did this blog get me an A back in 2015, it got a family answers and direction.

So here is where I’m going to get a little sappy in you. Do you ever feel like God has a plan for you? I certainly do. He knew good and well that I wasn’t going to start a blog on my own—He (through Dr. Nicely at Hollins University) had to make it a course requirement to get me started. And because of that course requirement I’m helping others get answers to the questions they have about their child.

So, there you have it, I’ve confessed my intentions and I have to say, I’m proud of this little venture. And I’m proud of you, my faithful readers, for sticking with me. Your support means so much to our family.

(I leave you with the following video of Emelyn sporting her new helmet and walking like a champ.)