Clinical Genomics

Genomics is a fun word, isn't it? Like economics, but with genes. Sheesh, it's been a long week at work, which is why I'm starting out with a ramble. I swear there is a point to this post, though. 

At the World CDG Conference, I discovered that Mayo Clinic has a Department of Clinical Genomics. Mayo Clinic is approximately 4 hours from our home and about 2 hours from our land. This was news to me as I had thought the only CDG-specific clinic in the United States was at CHOP in Philadelphia. Philadelphia was simply too far to travel for a consult when Teddy is stable and doing well.

But to have experts that close to home? It's absolutely worth working with them to coordinate Teddy's care. Teddy has a good pediatrician, a phenomenal neurologist, a wonderful physiatrist and a great team of therapists. But there's no one on his team with expertise with CDG, so they each treat his symptoms within their specialty. It truly does meet his day-to-day needs.

However, it leaves the burden of learning about CDGs, potential studies and new developments to us as parents. We had hoped to have our genetics team provide the latest in research and get Teddy into research himself. We realized pretty quickly that since Teddy's puzzle was solved, genetics had no interest in looking at the same puzzle again and moved onto other new puzzles and diagnoses. I know that team was incredibly busy and backlogged, but it was still a disappointment. 

So we've managed, largely by sharing information among our PIGN Facebook group about medications, primarily for seizures, and research opportunities. It's hard to describe how excited I am to have Teddy seen and followed by an expert in CDG.

Seriously, his doctor's bio is beyond impressive. Not only has she heard of CDG, she's been instrumental in the discovery of several. Not only is she aware of research opportunities, she's leading one of the current studies. (We already got the consent and completed it, so Teddy will join that study with his upcoming visit.) I know this won't likely drastically change anything for Teddy, but I'm excited about the doors it may open and the additional knowledge we'll have.

His appointment is July 16, so I'm sure I'll provide an update after that. I don't think they've seen another PIGN kiddo there, so Teddy may be a novelty to them. But they know the overall diagnosis, and that's incredible. The only other time we had that was at the NIH when we went there for the week-long study. An added bonus: this study is mostly paperwork, with optional urine, blood and stool samples. That's far more doable than another week filled with every medical test known to human kind. 

NIH Trip - Travel and Adventures

Our trip the the National Institute of Health (NIH) to participate in a week-long study almost didn't occur due to the looming (and now occurring government shutdown). We received confirmation Friday around noon that we would still fly in 24 hours, regardless of the shutdown. Since we had spent the past two years waiting and persistently doing our best to get into this study, we were excited but surprised to get the green light to go since earlier in the week it sounded as though the study would be on hold with the shutdown.

Our travel Saturday was remarkably smooth, complete with my aunt delivering us to the airport with snacks and toys to entertain Teddy. Teddy thoroughly enjoyed the flight and the 2:1 attention he got the entire trip. He was mesmerized looking out the plane windows and only complained the last 10 minutes of the flight when he couldn't play with the tray. The shuttle bus driver who took us to the car rental place was excellent with Teddy and shared his experiences as a bus driver for children with special needs. It was one of those moments where you feel as though God intentionally places someone in your path.

A half-empty airplane, and I'm stuck with these goofs.

Dave navigated us to the NIH campus without any issues. We discovered that security here is pretty much like airport security. We had to unload our vehicle, run all the luggage through a scanner, have the vehicle searched and walk through the scanners ourselves in addition to getting visitor badges made using our driver licenses. I wasn't quite expecting that, which makes me wonder what type of things are done or housed on the NIH campus that require that level of security.

We got checked into the Children's Inn, which is free for families to stay while at NIH. We have our own room with a shower, TV and two beds. There's laundry facilities and kitchens in each wing, with some communal pantry items as well as private pantry and refrigerator space. There's an art/craft room that we haven't visited, along with a really cool toy room that Teddy is loving. There's also mail boxes, where each child gets a small surprise each day. It seems there's family-style meals brought in by various groups on weeknights, which is likely what will be our supper most nights this week. As wonderful as it is, there's something that seems a bit weird about it. I think it's honestly just accepting the charity and goodwill of others, even when we feel we don't need it. I'm focusing on gracious acceptance this week.

Family photo with the Washington Monument as the handle to Teddy's chair.

Today was full of adventures, starting with exploring Washington, D.C. Dave bravely drove right to the National Mall (although traffic wasn't bad at all). We wandered around the memorials: Vietnam, Korean, WWII, Washington and Lincoln. We walked to the White House. We attempted the National Treasury, but it is closed on weekends. We ate a quick bite in the Smithsonian gift shops and wandered just a bit of the Museum of American History. We attempted the National Archives, but it was closed due to the government shutdown. We saw signs of the shutdown elsewhere, notably signs and a lack of National Park Service personnel and an abundance of garbage. As disappointed as I am with the shutdown, I also realize it might have reduced the crowds of people as well.

Government shutdown? Let's send Teddy to straighten things out.

It was absolutely perfect weather, warming up to near 60 degrees, while wandering. From downtown D.C., we headed back toward NIH to an adaptive park. We met another family from Maryland there whose daughter Alexa has the same genetic disorder as Teddy. We spent several hours at the park while Teddy played Alexa's siblings (and paused long enough to snap a few pictures with Alexa). Teddy also liked climbing in Alexa's chair and trying to steal her chewelry. Dave spent most of the time chasing Teddy round and round the park, while I got to snuggle Alexa and visit with her mom.

Two PIGN kiddos together is a special sight to see.

There's something incredible about meeting another family whose child (and children in this case as they lost one daughter with the diagnosis before Alexa was born) has the same rare diagnosis as your own. This family was the first we connected with after Teddy's diagnosis, and I instantly felt a connection with the mom. Although our children are affected differently by the disorder, there's so many similarities in their mannerisms and personalities. There's so many shared experiences ... things others can try to imagine but haven't experienced.

I adore this photo and am so glad to have met this sweet girl!

After thoroughly wearing Teddy out with three hours at a park, we grabbed a few groceries and a quick, tasty bite to eat at California Tortilla. (Lunch consisted of trail mix and granola bars, so we were a bit hungry. Teddy ate a $4 yogurt at the Smithsonian. He's worth it.) We went through security again to get back into NIH. (It's the same process every time.) Teddy was excited to be back, so we went to the play room for a while where he met another boy his age. I talked a bit with his mom since the boy only speaks Arabic. What I learned is enough to tug at my heart and make me incredibly grateful and blessed for our situation.

Teddy loved swinging with Alexa's older sister, who's a sweetheart.

This little boy has a genetic disorder that essentially wipes out his immune system. He is here at the NIH with his mom for 7 months. Despite being here since September, this is the first week they are spending at the Children's Inn because they've been in the hospital until now. As if that isn't tough enough to imagine and hear, his mom said Teddy reminds her of her other son, who is 8 months old. That son is back home in Egypt while she is here with her 4-year-old son. When I commented on how hard that must be, her reply was, "There is no other way."

I know this post is incredibly long, but the last few days have been a bit of a whirlwind. I'm beyond grateful that both Dave and I are able to be here with Teddy to share the experience together and have two sets of ears to process the incredible amount of information we'll get starting tomorrow. My hope is to share updates here daily, both to keep our family and friends informed as well as process all the information.

Reflecting on two happy boys of mine.

20 (million) Questions

I played a different version of 20 questions this past week, spending 2 hours on the phone with a very nice lady from the National Institutes of Health (NIH) in preparation for Teddy's visit in January. I'm quite glad I filled out all of the details of my pregnancy and much of Teddy's baby book. The conversation itself was pleasant, filled with occasional laughs as I felt the need to explain gaining 45 pounds during my pregnancy with Teddy. (I ate a lot of ice cream.)

But, despite the pleasantness of the person on the other end of the line, the conversation still had those moments. Like when she asked me when Teddy started to run, and I explained that he definitely covers ground quickly but not in the motions of running. She then asked, "Would he describe it as running?"

My honest reply is that he wouldn't describe it as anything because he is non-verbal. Those are the moments that sting, the questions that are answered by what your child cannot do rather than the amazing milestones he's accomplished.

Fortunately, much of our conversation was on milestones and progress, in addition to all the medical history details. All this narrative is combined with Teddy's medical records is designed to prepare the team at NIH for Teddy's participation in their natural histories protocol study.

This study looks at just about any aspect of medical testing you can imagine from MRI to EEG to sleep study to spinal tap (eek!). That last one is the one we're most nervous about, although we're not overly excited at having Teddy sedated twice in a week. (Well, let's be real. Some days we wish we could sedate him. At least at bedtime at my folks' house.) He'll meet with developmental specialists, a gastroenterologist, a neurologist, ophthalmologist, audiologist, geneticist and a few more -ists that I'm missing off the top of my head. It is literally a week of appointments and tests, starting first thing Monday morning and finishing Friday afternoon.

We're hoping to get a better understanding of Teddy and how his body works from his issues sleeping to his incredibly high pain tolerance. There's so little known about his specific diagnosis that this is a unique opportunity to get all these expert opinions to build upon the knowledge of our team here (none of whom have seen any type of CDG most likely).

It also builds the database of knowledge regarding CDG and MCAHSS1 specifically. One other family with Teddy's diagnosis has completed the study and found it to be useful. We view this as an opportunity to help other families with this diagnosis have access to better information in the future.

It's been a long process to scheduled for the study (seriously, 23 months from the time I first inquired to the time we'll actually be there for the study). But, I'm excited that we're scheduled and crossing my fingers that Teddy gets and stays healthy enough to participate in the study (since illnesses tend to cause some issues with either the lodging accommodations and/or tests). If I were to actually think about the ordeal of flying with Teddy, driving through D.C. and all the tests, I'd be full of anxiety. So, instead, I'll continue with my usual technique of blocking all that until right before we leave. That works well for me most of the time.