NIH Natural Histories Study - Day 1

We survived the first day of the NIH study, but not without more than our share of kicking, screaming and tears. Although the tests and procedures were exactly what we expected, Teddy's response was not.

We started with registration bright and early at 7:30 a.m. followed by a quick visit to complete a voucher request for meal reimbursement for Dave and I (since we technically can't order food through room service). We checked into our inpatient unit with basic measurements, which it turns out captured his height incorrectly. (More on that when we hit the end of the day.) The nurses were pleasant, and Teddy was his usual charming self: curious, a little dubious, unhappy with the blood pressure cuff, trying to pull off the oxygen monitor and trying to escape containment. Still, he was overall smiling and charming the nurses.

Once he realized he wasn't contained to his room and could explore the playroom, he was happier. He played until the study team arrived, which consisted of Lynne, who is in charge of the study, and Tara, the one who coordinated all our trip and did the extensive medical history on Teddy. They are both from the Human Genome Project and were accompanied by a doctor from another institute who has studied CDGs (Congenital Disorders of Glycosylation) for years who also helps with the study. That doctor entertained Teddy while Lynn and Tara went through the study paperwork with us. The study is considered higher risk because of the extensive testing done. In that fairly brief meeting, we quickly discovered that Lynne is a wealth of knowledge on CDGs and is extremely passionate about researching to find medical treatments to better life for those affected. She is beyond smart and compassionate, which is truly a rare combination.

Now, that might not sound remarkable, so let me state it like this: She is the first person we have ever met who truly understands CDGs. She is also the only person we've ever met (at least in real life) who cares about finding treatments to improve the quality of life for people with CDG.

In our meeting with Lynne, she explained that the government shutdown might interfere with the study because many of the specialists who are scheduled to see Teddy are through other institutes, and they don't know how each one will be affected by the shutdown. There were already some labs that couldn't be done because they couldn't be sent for processing. Oh, and Tara and the other doctor both had to leave after the meeting because they were furloughed. They had four hours to come in to work to prepare for an orderly shutdown (government phrasing), a portion of which they spent with Teddy.

Teddy was his charming self with these ladies, starting with a hug for Lynne. The doctor who entertained him (and got her morning workout as she put it) said he was truly a joy and commented on his empathy, protective responses and general adorableness. They tag teamed a thorough inspection of Teddy, detailing his inverted nipples (it's a CDG trait) and his double whorl in his hair (which can be characteristic of brain malformation, so they'll look extra carefully at his MRI) and sketching his scar on his nose.

Then the fun ended because we headed for labs. Now, Teddy just had labs drawn last week. He didn't flinch with the needlestick and smiled as they drew 3 vials of blood. Today, he began whimpering as soon as we entered the lab area and screamed bloody murder while they drew 13 vials of blood.

He calmed down a bit as we left but quickly escalated to full-blown hysterics as the technician hooked him up for his EKG. (An EKG consists of placing a bunch of stickers on his chest and attaching wires to them ... nothing that really hurts.) With both Dave and I working to contain him, we kept most of the wires on for a while, but then he was flailing and pulling them off despite our efforts. That, combined with hysterical screaming, led the technician to tell Teddy that he won. He unhooked Teddy and told us to bring him back when he was calm. The technician was truly great - Teddy was just beyond done at that point.

We ordered room service for Teddy, and Dave took Teddy for a walk to calm down and explore the hospital. It took Teddy a good 30 minutes to stop whimpering and become much more like his usual self. We're not sure how much is tiredness (because he's been acting awfully tired today) and how much is trauma from last month's hospital stay, but this was not what we expected. Lunch seemed to help, along with more time to play in the playroom.

We attempted another run at EKG but realized we'd be late for audiology. We headed to audiology and had waited there about 10 minutes when someone came out and informed us we were being paged back to Teddy's room. We went to Teddy's room only to discover that we were paged because the person to transport us to audiology was there. Apparently someone escorts us to different departments to ensure we don't get lost, and she carried along an impressive-looking file. We went back to audiology. Turns out we didn't need that impressive file anyways because no one looked at it all afternoon.

Teddy opened this. It wasn't addressed to him.

Audiology went OK with minimal whimpering when we entered the sound booth. Teddy was fine during the conversation and became agitated when we attempted to check things with ear probes. The audiologist said that was fine because it can all be done when he's sedated Wednesday. Teddy did as well as the audiologist expected for checking startle response and basic hearing, which was what we also expected to hear. (Ha, get it? I didn't until I typed it. My apologies. It's been a long day.)

Teddy's abdominal ultrasound was next, which was a form of torture for Teddy. It took both Dave and I working to restrain Teddy, and I took at least one knee to the face because I had his legs. Nothing seemed to calm him for the entire procedure, which again is not a painful procedure. As soon as we entered the procedure room, he began whimpering and escalated into full hysterics quickly. But we made it through the images and captured what was needed.

We had a bit of a break to play and calm down before we did the echocardiogram with Slaus (Stanislaus, which is what my Grandpa thought we should name AJ). Slaus had a fantastic approach with Teddy, and we had significantly less screaming. I wouldn't say it went well, but it was an improvement over the abdominal ultrasound. (I won't say I'm not sure it could be worse because we have 4 more days of testing yet. It could be worse. I hope it doesn't get worse.)

Medicinal milkshakes. They make us feel better after screaming.

The last appointment of the day was endocrinology, where the doctor came to Teddy's room. She eyed him up curiously (as I was pushing him in car) and asked whether they captured his height correctly. I said I wasn't sure, and she said he didn't appear morbidly obese, which is what his numbers showed. So we measured Teddy again, and he magically grew about 2 inches throughout the day (or didn't wiggle as much the second time). The meeting with her went fine because it was all questions about him with minimal examination. She was able to do almost all the examination while he hung out in his car, which he thought was pretty cool (and so did we).

It was good to end the day on a more positive note because there were points throughout the day where I felt like I pretty crappy parent. No parent wants to see their child hurt or in pain, yet we're consenting for Teddy to participate in this study. None of this is medically necessary for him at this time. We're concerned that this week will leave Teddy permanently disliking doctors and medical visits, which would really not be fun. Yet, we pursued this not only to learn more about Teddy but also to help others learn about this disorder. There's so much unknown yet already so much information gleaned from the others who have similar PIG disorders (apparently Teddy is the 5th PIG in the study and the second PIGN). One of the things Lynne shared is that each child in the study has shown cholesterol abnormalities on the cellular level. It's not to the level of severity of some other disorders, but if it's something consistent among those with this disorder, it's an area where medical intervention may be possible. Medical intervention has been successful with other cholesterol abnormalities on the cellular level, so perhaps this research could lead to some other medication that minimizes seizures or other aspects of the disorder.

Will it benefit Teddy? I doubt it, although I believe we'll leave here knowing much more about his disorder, which has value to us even if it doesn't change his treatment. Will it possibly help other families, either by giving them more information, much more positive than the research that says Teddy would most likely be dead 1.5 years ago, or by giving some hope for other treatments? I believe so.

With that said, if you're considering this study, a few pieces of advice:

1. Do what's best for your child and family. Teddy didn't respond poorly to doctors previously, so we weren't anticipating this reaction. 
2. Pack t-shirts and shorts. Seriously, we're roasting! I know we're wrangling Teddy, but we'd have been perfectly comfortable dressed in shorts and t-shirts all day today. 

The day ended with Lynne checking in with us, giving Dave and I both hugs and saying that she'd be drinking chocolate milkshakes if she were me after today. Teddy went to her and gave her a hug, so he knows who to keep on his good side. 

Tomorrow starts again at 7:30 with more labs (fasting labs this time). If our schedule stays true, we follow that with opthalmology, pre-anesthesia consult, EEG, VAD (not sure what that one is ...) and then spending the night there for the sleep study. One day done ...