NIH Natural Histories Study - Day 5

It’s the last day of the study! It will be so good to be back home tomorrow night where we can all sleep and recover from this week. 

Today started with a skeletal survey and bone age analysis, so basically a bunch of x-rays. It’s a good thing x-rays are taken so quickly otherwise we never would have been able to hold Teddy still for them. As it was, we managed to get all the angles except his feet held sideways and his head sideways. So they got all the body parts pictured, just not both angles on the feet and head. Considering that Teddy fought us the entire time, clinging to Dave like a monkey to a tree in between each x-ray, we were satisfied with that amount of pictures. I think the x-ray technician got her workout in dashing behind the screen as quick as she could to get the pictures snapped each time. It wasn’t fun, but it wasn’t an epic fail. (That would be the dexa scan later in the day.) 

Teddy had woken up just before 6 this morning happy after a decent night’s rest, but he was tired already before we left the Children’s Inn. One good night’s sleep doesn’t make up for the past couple rough ones. We tried a nap before and during hematology, but that didn’t work. Hematology was really short and uneventful because there was nothing abnormal with Teddy from the labs that were already back. They wanted to run a few more and put in orders for them, but we found out before we had them done that the Natural Histories team said they were already done and/or not necessary. I’m glad we heard that before we attempted labs for a third time this week. 

Dave and Ted's artwork this morning.

Dave continued his unsuccessful attempts at naps (for Teddy, not him) until our escort took us for Teddy’s photo shoot. Normally Teddy is a ham for big cameras, hence his supremely cheesy preschool picture, but this week has him freaked out about every room we enter. He managed a few smiles though the shoot, and it was only about 10-15 minutes to get all the pictures needed. The idea is to capture on film what his body looks like now for future study and analysis of features as they change over time. (Yes, that means we anticipate coming back here. More on that later after our wrap up with his team.) We also got a family picture taken with Teddy trying to escape Dave’s arms, which is a pretty standard family picture for us. I really felt like we should have been able to hold signs like you do after you complete or fail and escape room. I wanted, “We survived our week at NIH!” or “Those tests were hard!”

We then had a different immunologist come to see Teddy to discuss the irritation around his eyes, which was not surprisingly considerably less today than on Wednesday when they had been taped for his anesthesia. The two immunologists discussed with us that it’s the question of the chicken or the egg—does Teddy rubbing his eyes cause them to become irritated or does he rub them because they’re irritated? Regardless, it’s not significant enough that it warrants treatment. Again, allergy testing was discussed as something not to pursue at this time because it’s essentially not worth putting Teddy through the testing. If he has allergies, they’re mild enough that an OTC medication like Zyrtec would be all he needs. So we’re going to try a 30-day run of Zyrtec and see if we notice any changes with his behaviors. I liked what the immunologist said that you can only do so much and have to focus on what’s most important because life is chaotic.

This is how we spend time between appointments.

We attempted the dexa scan, which involves laying on your side for a 25- to 30-second scan to measure your bone density. Even at his best, Teddy doesn't sit still or hold still for 25-30 seconds. At his I'm-freaked-out-about-all-these-procedures, we can't hold him still on his side for any amount of time. We barely got the side x-rays of his spine, and that only takes a second of stillness. So that was determined to be a fail with the technician requesting we come back when he was worn out (ha, he already was) or at a different time to try again. 

We grabbed some lunch and ate quickly before noon when we were scheduled for hepatology, which is the study of the liver and related systems. For some reason that doctor hasn’t showed up yet despite it being almost 1 as I write this. That’s not the worst thing for us because Teddy fell asleep and is getting some much needed rest (as is my big kid who is now snoring along with Teddy).

One exhausted boy. (And apparently sick, too.)

One of the weird things about this study is that we are admitted into the in-patient unit, which really had us worrying the first day if we were required to stay here overnight. Even though he’s admitted as in-patient, he gets pass every night to go to the Children’s Inn. Dave’s guess is that it makes it much easier for everything to be scheduled for the week, especially since about half his appointments are done bedside in his room, if he’s admitted and has the same room all week.

The hepatologist came nearly an hour late, which was perfectly timed to Teddy being awake, hungry and happy. He was eating his pizza and milkshake when the hepatologist arrived and cautioned us (as the second doctor) about his propensity due to CDG to have extra fat in his liver and the need to limit carbs to prevent excess belly fat. Seriously, it just happens that he has milkshakes when the nutritionist and hepatologist come into the room ... at least it didn't happen, too, with the endocrinologist. The message is clear, though, that we do need to work a bit harder at offering healthier food choices to Teddy more consistently. Excess fat could cause issues within his liver, although the remarkably brief test they did (a fibroscan) showed normal results. He tolerated that test really well thankfully with only a brief cry and mostly smiles as they tickled his belly. This was what we had expected of him most of this week. The other reason weight is a concern is to ensure he's not having to work extra hard to move with extra weight. Why couldn't he have AJ's build?

After that we visit, we went back to the dexa scan. We did our best to hold him down and attempted two scans. Even with both of us holding him (and somewhat minimal screaming the second time), there was still too much wiggle for the scan to be successful. This scan measures bone density, which tends to be lower in children with CDG. I seriously doubt even if Teddy wasn't freaked out by the medical procedures that we couldn't have gotten him to stay still long enough for the scan. That 30 seconds is an eternity to a child in constant motion.

When the study is done, it's time to play!

That was the last thing on the schedule until our debrief, so we took that break to head outside and enjoy the sunshine. We played on the playground, and we were all smiles to be done. When we headed in after a half hour of fun, Teddy was instantly crabby. We were walking him around the hall to the play room to occupy him until his team came when he refused to walk. Dave picked him up and carried him down the hall a bit before Teddy vomited all over Dave, himself and the floor. We took him back to his room to avoid more public puking while nurses and housekeeping cleaned chunks of grapes off the floor. 

Fortunately Dave had a long-sleeve shirt that he could change into, and we stripped Teddy's shirt. He was absolutely miserable, whimpering and crying and flopping around between us trying to find something that made him feel better. His team arrived after 30 minutes or so and was somewhat concerned about the vomiting. Lynne put in an order for liquid Ibuprofin because we didn't think he'd tolerate the tablets we had to hopefully make him feel better. He managed a few smiles for her but spent most of the time crying, whimpering and being consoled as best as Dave could. 

I think Teddy's illness detracted from the debrief, but we each received a packet that's probably 50 pages double-sided of reports. And this isn't the full report because some tests still aren't back yet or reports aren't written. We were told to disregard any labs or tests that showed an H for high or L for low if they weren't something we discussed this week because they were either close to the normal range or things that weren't concerning to them. 

A few findings they noted:

1. His overall iron levels were fine, but his ferritin was low. 
2. His carotene, which usually comes from red meat, was low in his muscle cells but not overall. This is something that we actually received a prescription to supplement. Low carotene levels can actually diminish muscle capabilities, which isn't necessarily the case in Teddy, but it's worth treating.
3. His MRI showed cerebral abnormalities, not as significant as findings in other CDG patients. Lynne noted that one of their neurologists often says that pictures of brain don't reflect what a person can do. This is something, though, that should be monitored over time to note any changes.
4. He is technically obese, which he might outgrow as he gains more height, but it is concerning to the dietician, hepatologist and endocrinologist for the reasons stated above. (Maybe it's my "Mom" bias, but he looks well proportioned to me despite my frequent comments as I carry him that he needs to lose weight.)
5.  Follow-up studies would likely be 2-3 days instead of repeating all the testing. Tests relevant to his diagnosis in particular or Teddy in particular would be the focus. Follow-up testing would likely not occur for at least another year, most likely 2-3, unless something of significance changes.

The team (Carlos, Tara and Lynne) all thanked us for our willingness to participate in the study. Carlos said that we are now part of their family and that we can reach out to them at any time with any questions. Probably the best part of this experience for me is that each specialist who met with Teddy has experience with other people who have CDG and GPI-anchoring disorders. That means we can now at least ask a question back to the team where there is some level of familiarity with these types of disorders. It's not that we don't like or don't trust our team back home, but no one there knows these disorders-they've essentially been learning with us. 

We asked for a group picture of the team with Teddy, despite his miserableness. There was one picture I snapped where he was crying, but I joked that we could almost pretend he was smiling. No sooner had I finished taking the pictures and making that comment did he unload the rest of his grapes and pizza onto himself, his stroller and the floor.

Lynne, Tara and Carlos with Teddy. These people are incredible.

We weren't happy that he vomited again, but it was nice to have the team there. I was impressed that Carlos put on gloves and helped clean while Lynne ordered an anti-nausea medication for him to go with the Ibuprofin. Lynne also determined she wasn't discharging Teddy today. She left it up to us whether we spent the night at the clinic or at the Children's Inn. But if she discharged Teddy and we had issues, we'd have to go through the readmission process. This way she can discharge him by phone tomorrow morning if he appears healthy, but we have immediate access to care if we need it tonight.

Teddy perked up after about 30 minutes or so, once the medicine kicked in, so we decided to at least head to the Inn to grab some supper and take it from there. Before we left, I picked up some additional liquid Ibuprofin from the pharmacy, along with the carotene prescription, so thanks for your tax dollars for those medications (as Lynne put it). The reality is that our taxes do fund a large portion of the research, care and facilities, so thanks for your financial support in this endeavor along with your morale support. (And as a side note, we're right across the road from Walter Reed. I found that interesting.)

We headed back to the Inn, and I made supper while Teddy colored on the bed. Literally colored on the blanket instead of the coloring books apparently. Whoops. Teddy ate a yogurt and applesauce and drank a cup or two of water this evening, so we're hoping he's over whatever it was and that it's not just the medicine masking the symptoms. We're also hoping that we don't end up puking either. Teddy was his usual self, laughing, playing and thinking he was super cool and funny the rest of the evening. We kept him mostly in our room, aside from trips to do laundry and eat in the kitchen, to avoid spreading any germs he might have. He was wound up, so he didn't go to bed until after 9, but he was extremely happy all evening. It was nice to have our Teddy back because he had us really concerned this afternoon. (I'm still worried that once the meds wear off that we might end up making a trip to the clinic in the middle of the night, but I'm hoping everything is fine.)

So we have a huge report to read, with different reports from each physician or test included. However, some of the reports, including sleep study, EEG and neurodevelopment, aren't complete yet. So we'll continue to receive reports through the next couple weeks to a month until we get them all. It's going to take a while to sift through and read them all, but we have a lot of material to share with his team back home.

This is how happy we are to be done with all the tests!

At some point, I'll likely do another post about either results or the experience once I've had time to process it, but here's what I'll say for now. I was extremely impressed with how knowledgeable, interested, compassionate and patient everyone was. Some of the doctors knew where we were from, where Dave worked and had read parts of this blog. Everyone, except that one phlebotomist, had a smile for Teddy. (I think it was just his demeanor-he was really good at what he did.) It was an incredibly intense, overwhelming week filled with highs and lows. It seemed like a win came when we needed it, a reason to smile after a screaming procedure. We couldn't be more impressed with the study team. We have an enormous amount of information to process and understand. 

As Dave just said, "It's been a tough week, Wifie." It has, but it's worth it. It's worth it for us to have this team of experts now available as a resource. It's worth it to have met Alexa and her family, which happened because we were in the area for the study. It's worth it to have the information about Teddy, even if a lot of the tests showed no concerns. When you have a non-verbal child who you struggle to understand, knowing that a lot of things are fine is reassuring. It's worth it for any other child, adult or family who benefits from the information gathered and what they were able to learn from Teddy.

NIH Natural Histories Study - Day 4

Although we hoped for a good night's sleep last night to recover from the sleep(less) study, it wasn't in the cards. Teddy went down fairly easily and was asleep by 7:30 p.m. Around 9:40, he began flopping all around the bed, dozed off for a few minutes and continued flopping. By 10:15, he decided that nap was enough to sustain him that he should be awake. We tried for a while to get him to sleep, and then Dave took him out for walks in hopes of getting him to settle down with no luck. Around midnight I took over, so Dave could catch a nap. When I headed downstairs, the front desk person at the Children's Inn said, "Good morning," and I was so confused that I just stared at her until it clicked that it was indeed morning. I created a masterpiece while Teddy voiced his complaints that he wasn't allowed to help, but sometimes really sleep-deprived parents need to do something to make themselves smile.

See my masterpiece? Think he got the message?

Teddy settled back to sleep by 1:30 a.m. and managed to sleep in until 6:45 a.m. We took showers, grabbed tea and granola bars and headed back to the clinic for more testing. We talked to his nurse about how unsteady he was because he still didn't want to bear weight and walk. We weren't overly concerned last night but expected him to be walking normally by this morning. The unsteadiness ended up resolving itself by around 9 or so this morning and was most likely caused by the propofol used in his sedation cocktail.

First on the schedule was a swallow study and meeting with the speech therapist. Out of all the appointments we had so far, this was the only one where I felt we needed more time. The swallow study itself was a fail. Not that Teddy failed the swallow study but that no viable pictures were obtained. The idea was to mix barium into pudding, crackers and liquid for Teddy to drink to analyze how he does with different textures. He was freaked out as soon as we entered the x-ray room, so he was too busy screaming to even swallow when I injected the liquid into his mouth after trying to get him to drink his cup unsuccessfully. Once it was determined to be unsuccessful, we moved to the hall to discuss him because he would have continued with hysterics if we stayed in the procedure room.

The speech therapist was less than impressed with his pacifier use and how he drinks from a straw by rolling his tongue around it. She explained that he's essentially suckling and encouraged us to eliminate the pacifier by switching it out with chewy tubes or chewelry, even coating them with chocolate syrup if we need to coerce him into chewing on them as opposed to a pacifier. She also suggested the use of gradated straws to work toward such a small straw that he couldn't roll his tongue and would be forced to learn to drink properly. She encouraged using halves or quarters of donut holes or the soft cheetos placed right on his molars to strengthen his biting and chewing muscles. She said the crunch sound of the cheetos works as a reinforcement for biting and that kids typically like them, despite their lack of nutritional value, so they work well for therapy. This was the only appointment thus far where I've felt rushed (partially because she said she added another child and then someone else added yet another child to her schedule) like we didn't have enough time to really discuss Teddy since speech is his most significant delay and one of the hardest areas to get therapy approved for him.

This would be Teddy screaming captured on x-ray.

We left his speech appointment with me nearly in tears because I felt like I've been failing Teddy in this area by not doing enough consistently with him and that our therapist hasn't done enough with him in his motor muscle development, which I somehow take personally because I really like his speech therapist. It's a crappy feeling.

But I didn't have time to wallow in miserableness because our escort was ready to take us to Teddy's next appointment as soon as we got to his room. He had a 2-hour block of time with Neurodevelopment, which was play-based assessment of his skills along with a lot of questions about when milestones were reached and what he's doing now at home. Teddy ate a snack in his chair while we started with the questions. As it became apparent that he was perking up, we moved to the assessment portion. He quickly became his charming, smiling self. He thought it was the greatest thing that he had two ladies laughing and smiling at him the entire time while he got to show off his skills. Perhaps the most impressive thing I saw him do was complete a 4-piece shape puzzle. That might sound incredibly easy, but I've never seen him make it through a 4-piece puzzle both from an attention and skill standpoint. Actually, the greatest thing was the two-way mirror because he found it hilarious to see himself in the mirror (before he knew it was a two-way mirror). Once he discovered the other side of the mirror, that created more fun games for him.

As we talked with Dr. Thurm, her two teammates played and assessed Teddy. She recommended that our therapy team be working with him using prompt therapy, which apparently originated in Wisconsin. I'm still not clear what that is, so I'll have to look more into that. She recommended more focus on developing his oral motor muscles for his apraxia of speech (his inability to speak) rather than only finding alternative methods for him to communicate. This is the first time that someone has used the term of apraxia for Teddy, but she likened it to the fact that it's not just developmental delays impacting his speech but also that he physically needs his muscles trained to be able to form speech sounds. She also suggested that he only use 2 choices in  his speech app that he just got at school to help him be most successful. The general consensus seems to be that Teddy might not quite be ready for the speech app as an form of communication but can get there with more work. She gave us a list of apps that she thinks would be great for helping Teddy developmentally with making selections and developing skills to improve his communication. She also emphasized that we need to be having Teddy make choices now that he's started pointing at things he wants.

There were quite a few questionnaires to complete for the developmental team, so I did them while Teddy played and showed off his ability to turn off lights, open and shut doors and guide people to do what he wants them to do. He had an absolute blast playing with the team. I thought I was done with the paperwork when I was given an envelop with 3 more questionnaires to take as homework in our room.

We ordered lunch for Teddy since it takes about 45 minutes to arrive, and then he went with Dave to find food for us adults. I stayed back to complete the homework and then gave them to Dr. Thurm. She was impressed that I had completed them so quickly, so she rewarded my efforts by giving me 3 more to complete. As I worked on them through the afternoon, I know a few people heard me mutter, "Who gives a 4-year-old a saw?" as I was trying to answer whether Teddy pretends to use a saw. Our nurse heard me ask, "How am I supposed to know what words a non-verbal child understands?" Some of the assessments seemed to fit Teddy pretty well and others were challenging to complete, particularly the one scoring Teddy's comprehension of words. My guesses at what he understands are exactly that - guesses.

We were surprised when the neurologist arrived because we hadn't realized he was on the schedule for noon. The neurologist we saw is also an epileptologist, who specializes in seizures. Our conversation with him was centered around Teddy's seizures primarily but also asked about some of the times he stares into space and seems to be in his own world. He doesn't have the EEG results yet, so he's only going off the details we're able to provide. He said it seems that most of Teddy's seizures have been focal onset seizures, where something is firing somewhere in an isolated area and then may spread. He said it seems that his seizures are triggered by illness with fevers lowering his threshold, not necessarily fevers, because of how low his temperature was during some of the seizures.

He recommended continuing with Keppra, which has been our plan since December. He warned us that puberty can hit children with developmental delays earlier than the typical child, as early as 7 or 8 years old. This is worth noting since, as he put it, puberty can be really nasty with seizures. After puberty, typically seizures even out again.

The weird space staring episodes are something he thinks are worth investigating, depending on what shows up on the EEG from here. He said that there is potential they are mild seizure activity that could be captured on an EEG. If it's noted as seizure activity, then the recommendation would be to slightly increase Teddy's Keppra. The reason he recommends looking into them more, if nothing is determined from this EEG, is because Teddy's at a slightly higher risk for death from seizures due to color change in his lips during some of his seizures. Apparently that's a risk factor indicator that he's at a slightly higher risk than others who have seizures without that symptom, but the fact is that anyone with a seizure disorder is at risk of dying from a severe episode. These aren't facts I like hearing or being reminded of, but the risk is lower given that Teddy is less affected by seizures than others with CDG. It didn't surprise us to hear that because we know of families who have the same or similar diagnosis who unfortunately deal with seizures several times a day and have used rescue meds multiple times a week.

Teddy did OK for his neurological examination, although it was clear that he was completely exhausted. When Teddy tries to climb into bed and snuggle with his blanket, you know he's seriously tired. As soon as the neurologist left, Dave attempted to get Teddy down for a quick nap despite the fact that he was scheduled for an appointment at the same time with physiatry.

Not sleeping is exhausting.

I headed over to his physiatry appointment alone and came back to talk in his room with the occupational therapist (OT) and physical therapist (PT). The OT stressed the need for him to learn the building block skills, like the pincer grasp, even if he has effective workarounds. She had a few suggestions, such as using a large 3-ring binder with binder clips on it to create a portable inclined workspace for Teddy. She also suggested a core disk to allow him movement at school while sitting in a chair. To counter his desire to place his feet on the table during meals, she suggested either a sturdy footstool with heavy-duty foam on top for him to push into with his feet or a therapy band tied around his chair that he can push, kick and manipulate with his feet. The reason for this is to help with his propreception, which is his knowledge of his body in space. Most of us have an internal awareness of where our body is related to things around us. Teddy has a need to push against things, like a deep pressure in his joints, to know where his body is in space. She said the challenge is to be aware of when he's looking for that stimulus and find appropriate ways to give him that (as opposed to feet on the table). The concept of propreception makes a lot of sense to me in behaviors we see with Teddy. She said that his climbing is a form of that input to his body.

We woke up Teddy after about a 30-minute nap because he really did need to be awake and moving for the meeting with the physiatrist. A physiatrist is a doctor who coordinates OT, PT and speech therapies and ensures those therapies are working or makes adjustments. Dr. Paul came prepared with handouts of the three physiatrists at Children's Hospital in Milwaukee and encouraged us to set up an appointment. He then said that if we're told they can see us in several months to let him know and give him permission to discuss HIPPA-protected information. Then he'll pester them until they get us in. He also said if they try do do a one-time appointment and then don't feel the need to continue to see Teddy to reach out to him. He'll remind them of the need to follow through to make sure the therapies and devices are working properly because this is something he sees due to essentially a shortage of phsyiatrists.

We discussed whether Teddy needs adjustments to his ankle braces. He said the wings, as he called them, and the potato chip insert are essentially worthless because a shoe provides that stability. He also said that Teddy's braces need to end where the ball of his feet ends to give him the toe mobility that we all use to walk. He discussed the possibility of a two-part brace to minimize some of Teddy's hyper-extension of his joints.

Dr. Paul said Teddy really doesn't have hypotonia as much as hypermobility. He used several references for Dave including that the motor is fine, but the fan belts are loose. (I appreciate that he knew Dave's occupation and adjusted for his audience.) He assessed Teddy as having three issues, aside from delays in development, that limit his progress: motor control, weak core muscles and hypermobility. He also said it appears Teddy has a slight bit of movement disorder with his trembles in his motions. (Honestly, I'm not sure really what that means or impacts.) The motor control is the easiest to address using orthotics and a methodical approach to therapy. He said that with therapy twice a month (outpatient) or even twice a week (school) that the reality is we need to be trained as therapy assistants. He said that can actually be put into Teddy's IEP to train us as therapy assistants to do the work at home because motor patterns are learned through repetition. (Are you feeling like being Teddy's parent and helping him succeed is more than a full-time job? That's kind of how I feel writing this.)

His last recommendation as that we look for a neurodevelopmental psychologist who can work with us and the physiatrist to determine what incentives would work to build a behavior program. This is the systematic approach he's recommending to trial and error to see what works to develop motor patterns for Teddy. Oh, he also did say that sometimes brief but intense periods of therapy can be as beneficial as extended infrequent therapy sessions if there's a focus on a specific goal. That does make sense that if you practice really hard on something in a short period of time that you can learn as much as practicing less over a longer period.

Right before we left, he pointed to his tie covered in zebras and said that he works with the zebras, the rare children. He said the outside world doesn't understand these children, and that we're part of the research team now and he'll do what he can to help Teddy have the supports he needs. He told us to e-mail him today and gave us his card, so he could then send us swim vests for Teddy to work in the pool for weight bearing activities there.

The last appointment of the day was the Q sweat. This is, as the name sort of indicates, a test that involves sweat. Teddy apparently thought that meant he needed to scream until he was sweating for the test. It was a fairly simple and short test that involves attaching devices on his ankle and wrist, injecting liquid to make his skin surface wet and then running low electrical current for 5 minutes. The doctor said kids usually are fine after the first minute once they're used to it, but I told him that he'd likely scream the entire time. Teddy didn't make a liar out of me. He wasn't completely hysterical, but he cried throughout the 10-minute test (because there's 5 minutes without current as well). He was clearly exhausted, though.

After the Q scream sweat, we headed back to his room. He got his IV taken out, and we met briefly with Lynne. She had another doctor with her, who Teddy tried to convince to lay in the hospital bed next to him. He was a little charmer for Lynne, and this new doctor, as well. He clearly knows who he should impress in this facility - the one who largely controls the study.

Although we had planned to drive to Delaware (coincidentally the only state in the lower 48 where Dave has never been) to meet a family who got a PIGN diagnosis this week, our plans changed because that family decided they needed more time to process. We completely understand because although we see value in seeing another child with the diagnosis and having that opportunity for questions in person, there's no guarantee whether that provides hope or reinforces fears. When we met Sammie, who is several years older than Teddy, it gave us so much hope for what Teddy could accomplish. That was our hope in meeting with the family. Yet at the same time, we realize that meeting Teddy might show a child who isn't potty trained, is non-verbal and is severely delayed. It truly depends on where you are in understanding and accepting the diagnosis.

That probably worked out for the best because Teddy was exhausted. We ran to get diapers at a Target that had it's own parking garage and a cart escalator to take carts up/down from the second floor. Still in awe of that. Oh, it also had fugly jumpsuits with cutout sleeves that I told Dave I was going to buy. That's related to nothing, but I'm sleep deprived, so what do you expect?

We were going to grab dinner at a restaurant, but we were both concerned with how Teddy was acting. It was either really weird behavior because he was tired or that he was potentially going to have a seizure. It wouldn't surprise me if he had a seizure this week simply due to all the stress he's enduring and the sleep deprivation. Both those lower a person's seizure threshold. We headed back to the Inn, hungry and tired and worried. Teddy settled into more sleepy than worrisome behavior on the drive back. We grabbed soup and salad at the free meal provided. I walked away from dinner satisfied because I had a real meal complete with apple pie and ice cream. Ice cream usually makes me happy.

Teddy is settled into sleep now,  hopefully for the night. I'm heading to bed soon because I don't trust that we won't be up again tonight. But I'll end with a few things I wish I had known to bring to the Children's Inn:

1. Washclothes. Towels are provided but no washclothes. 
2. Shampoo and body wash. Dave had a couple travel ones, so we didn't need to buy them. 

Tomorrow has the last of the tests: skeletal survey, fibroscan and dexa scan along with hepatology, hematology, clinical photography and then a good chunk of time to wrap up with our team. I'm sure the tests won't be super fun, but the end is in sight. We're really excited for all the information we'll get tomorrow and in the coming weeks as any lagging results come back. As much as I feel at times that I'm failing in doing all that I should to help Teddy be the most successful, all that we're learning is valuable to us. And tomorrow I'll learn what hepatology is along with what all those other tests are. Why Google it when you can find out in person?

NIH Natural Histories Study - Day 3

Dave drew the short straw when he volunteered agreed do the sleep study with Teddy. Dave is much better at putting Teddy to sleep than I am. My tactics include giving up easily, going for vehicle rides and crying. Dave somehow actually gets him to sleep. I think he has this thing called patience, which was needed last night.

Teddy fell asleep around 9 and slept until midnight or so when they tried to do the metabolic cart. That is apparently where they put a hood over Teddy to record how much carbon dioxide he’s exhaling. That indicates how efficiently his body metabolizes sugars. That woke up Teddy and freaked the bejezus out of him, which resulted in screaming for 1.5 hours before Dave’s magic worked to get him back to sleep. He woke up again around 5, making weird sounds and having gasses exit his body all at once. That freaked Dave out because it looked abnormal enough to look like possible seizure activity. The nurse came in but didn’t witness any of it, but anything should be captured on the EEG.

I'd freak out, too, if I woke up with this on my head.

I headed over from the Children’s Inn as soon as Dave text that he was acting weird, then returned to the Inn to grab some breakfast for us for later and returned to sit by Teddy while Dave tried to relax. Teddy woke up by 6:15 and was done with the sleep study. He was still exhausted, but we knew he wouldn’t be going back to sleep. He cried while he was unhooked from everything, but he managed a few tired smiles from behind his pacifier as he left.

We went back to his room, and I paced the halls with him in his chair, pushing his IV pole. We played in the playroom a bit, keeping him in his chair to prevent him from wrecking his IV or falling over from exhaustion. He did a few weird burps and spit up clear liquids, mostly stomach bile from the smell on my hand. No idea why that happened, but that has us a bit concerned about him. We’ve stressed his body an awful lot this week, and he’s beyond exhausted, both of which make seizure activity more likely. He was still able to get his sedated procedures, which is where he is as I write this portion.

He's being sedated for an MRI, lumbar puncture, skin biopsy, dental exam, hearing exam, eye exam and two different tests that measure nerve and muscle responses using electrical current. All things he wouldn’t tolerate awake, hence the sedation. I held him as he was sedated, which he didn’t like despite the very nice team of smiling people there to help. I’m hoping he wakes up feeling more rested and happier, but I’m not expecting that to be the case because of both the sedation and the procedures.

We met with Dr. Carlos Ferreira, the doctor in charge of the study. He spent about 45 minutes with us, discussing CDGs and Teddy’s more specific diagnosis. That was extremely helpful because that man is incredibly intelligent and explains things in a way that makes sense. He is also compassionate, as evidenced by him undergoing a skin biopsy to know what it is like for those participants in the study. We learned quite a bit from him. He said there’s more than 8,000 rare disorders, and there’s no gene therapy for 7,900+ of them. The goal for now is to treat the symptoms, which he said Teddy’s therapy and Keppra are doing well.

He spent some time explaining the diagnosis and said he wouldn’t call Teddy Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 1 (MCAHSS1) because Teddy doesn’t fit the clinical diagnosis. He has the seizures and the hypotonia and the developmental delays but not multiple congenital anomalies. Dr. Ferreira explained that the medical community is divided into lumpers or splitters (his words, not mine) who either lump groups of disorders together or name each one individually. Apparently, the doctor who discovered CDGs in Belgium is now advocating that CDGs be classified as the gene name – CDG. So Dr. Ferreiera would call Teddy’s diagnosis either PIGN-CDG or GPI-BD3. The GPI-BD3 refers to the GPI-anchor aspect where sugars aren’t processed/attached as they should, and quite frankly I don’t remember what the second half means. I didn’t have the heart to tell him that I couldn’t remember or pronounce all those words, so I didn’t think it was a good idea to change Teddy’s diagnosis. Basically, what he’s getting at is that it’s all semantics, but the words used to diagnose Teddy aren’t reflective of Teddy’s medical symptoms.

He also spent some time explaining alternatives in the event we were interested in pursuing another child (ha, not unless God has a wicked sense of humor). He explained the logic, though, as a way to think of AJ potentially having children affected. There’s a 2/3 chance that AJ is a carrier of this recessive genetic mutation. But the odds of him finding another carrier are less than 1%. That does mean the odds of Dave and I finding each other were way less than 1%. How come we’ve never won the lotto?

The time with Dr. Ferriera was very informative. He confirmed my belief that right now the only way to accurately diagnose this disorder is with the exome sequencing or the specific analysis of the PIGN gene, which is why the testing of that specific gene in a newborn could produce results in 2-4 weeks instead of 3-6 months for exome sequencing. There are blood tests that look at how GPI anchors affect proteins that could indicate a GPI-anchor disorder but not which specific one. And if you think I understand what GPI anchor means just because I’ve written it a bunch of times, you’re wrong. Google it. And then feel free to explain it again to me next week.

This model shows why they perhaps have an escort service. It's a huge place.

The other appointment we had while Teddy was sedated was with a genetic counselor. Dave joked (only partially) afterward that he didn’t realize it was a counseling session, not a genetic counseling session. She took Teddy’s history and our family history but spent much of the time asking questions about how we handled the initial diagnosis and the years since. That was a bit different than what we anticipated, but she was genuinely interested and compassionate. I think the information we provided helps with better presentation of information to other parents in the long run. We did discuss whether the specific mutations we gave to Teddy alter the impact of the disorder. The general thinking is that yes, the specific mutations affect how the disorder presents, but there’s nothing more really known. It seems like each person has what is called private changes, meaning that Teddy’s mutations are all his own and not the same mutation that shows up in someone else. The splice site mutation he gets from me can change the gene more dramatically, which could either minimize the impact or be more damaging to the gene. There’s not enough known, but the specific mutations are part of the research they’ll be doing.

We’ve also heard from both Dr. Ferriera and the genetic counselor about a variation in Teddy’s SCN1A gene, which is a gene associated with seizures. This gene was tested before his exome sequencing, but the variation he has is one that Dave or I have as well (as best as we remember). That’s why it was determined to be a mutation of unknown significance, meaning it’s not likely the cause of his seizures since that mutation doesn’t cause Dave or I (whichever has it) to shake, rattle and roll.

The other impressive thing, to me at least, is the appreciation shown by Dr. Ferriera, the genetic counselor and the other team members in our willingness to have Teddy participate in this study. They are very understanding of how stressful the week is and that parents usually don’t love them at this point in the week. We know this week is incredibly tough on Teddy, but we also feel like we’re getting the chance to talk to experts for the first time. It’s worth it for us and for the future of CDGs, especially those with PIGN mutations.

Those appointments kept us distracted from Teddy’s sedation, but the 1.5 hours waiting after them left us both antsy. However, they allowed both us back by Teddy as he was waking up more, which was nice not to have to pick one person. The anesthesia left him wobbly all afternoon, much like the Jello boy he was after a previous MRI. His mood improved as more of the medication left his body, although he still wanted full freedom from his IV of fluids. (The fluids help him regrow his spinal fluid and help with a spinal headache, in the unlikely event he develops one.)

We met with immunology in Teddy’s room about an hour or so after we got back there. That meeting was relatively brief as Teddy was still waking up and required more attention. We discussed possible allergies and opted not to do additional allergy labs because he’s already been stuck so much this week. There’s some concern for a possible dust or mold allergy irritating his eyes that might be why he rubs his eyes so much in the evening, as opposed to being tired as we assumed. The plan, as I understand it, is to put him on a regular course of Zyrtec to see if that changes his eye-rubbing behavior. We should know more once all the sedated procedures and test reports come back. The other interesting piece shared by the immunologist is that some of the CDG patients actually show improved responses to vaccinations, which is an area of further study to see if vaccines could potentially be improved to be more effective for the general population.

This is why we're doing this study. Teddy is making the world a better place.

 

We worked to entertain Teddy until his nutrition visit while keeping him contained in his chair because his couldn’t or wouldn’t bear weight on his legs. He ate a banana and had just started on his milkshake when the nutritionist walked in the door. (Timing is everything, right?) The nutritionist also misunderstood me and thought Teddy was drinking 5 milkshakes a day here. Sheesh, that’s a bit extreme, even for my child. We learned from the nutritionist that Teddy’s Vitamin D levels were excellent, which is apparently really rare in children (especially those from Wisconsin in winter, I’m sure). The only other finding she noted was slightly low iron levels, so she recommended switching from gummi vitamins to a chewable one that contains iron.

Based on our discussion, she recommended some adjustments, such as limiting Teddy to 3 cups of milk a day (which is pretty normal, although he sometimes has more) and eliminating apple juice since he eats a good amount of fruit. We discussed ways to possibly get him to eat vegetables since the only one he'll eat is potato in the form of a French fry or possibly tator tot. I would imagine most parents would feel the same as I do in talking to a nutritionist that there’s room for improvement in helping their child eat better. Still, in the grand scheme of life, finding a way to get Teddy to eat vegetables has not been my top priority. She mentioned that it appears Teddy is increasing percentages and suggested discussing with his PT whether his increase in weight impacts any of his potential gains. Part of me wants to roll my eyes because I think Teddy’s actually become more lean through the past year and looks well proportioned to me. The other part of me recognized that with as much input we have into Teddy’s eating habits, there’s plenty of opportunities to try to make some better habits. (I do think I got brownie points … errr, carrot points … for making waffles and pancakes from scratch. At first she thought homemade waffles meant from a box mix, which she still was giving me credit for doing.) 

 

That was our last appointment of the day, so we waited impatiently for Teddy to be disconnected from IV fluids. He still has the IV yet tonight in case he were to develop a spinal headache or have any issues from the anesthesia this morning. He should be able to get it pulled tomorrow as soon as his nurse has the time when we have a break in his schedule. Teddy was really happy to see Lynne and was his normal self (albeit sitting in his chair) with her and Tara. Teddy even convinced Tara to play peek-a-boo with him by hiding under his blanket and got her to put his medical chart stickers on his nose and took all the extra copies of his schedule from her and then handed her back a nicely drooled one. In other words, Teddy was Teddy. Lynne said all went well today, although results aren’t back yet from all the tests.

She reviewed tomorrow, which starts with a swallow study and is mostly play-based evaluation through the middle of the day ending with one more non-invasive procedure. We explained that we’re hoping to leave tomorrow evening as soon as we’re done to head halfway to meet a family from Philadelphia who got their diagnosis of MCAHSS Monday of this week. We remember all too well the overwhelming emotions, questions and fears that come along with the diagnosis. Dave was actually the one who suggested offering to meet if they were available to meet somewhere in the middle. That’s the plan, so we’ll hopefully pull it off tomorrow evening without too terrible of traffic or other issues.

After we escaped from the clinic, we attempted a partial wash of Teddy’s hair using a towel to get rid of some of the gunk from the EEG. At least he smells like shampoo now instead of chemicals. Dinner at the Children’s Inn tonight was a fantastic potluck put together by one of the clinical teams. There was an incredible assortment of food ranging from fried chicken to dinosaur chicken nuggets to macaroni and cheese to quiche to meatballs rounded out with a few more casseroles, vegetables and fruit. There was a table of desserts, including a cookie-decorating station for the children. It might have been extra delicious because lunch today consisted of trail mix and a chocolate milk I stole from Teddy, but it was so nice to see such generosity. They even had tablecloths and balloons as table decorations!

Oh, I know this is incredibly long already, but I learned there are 7 branches of uniformed service. I asked someone today about her attire because there's a handful of folks here wearing weird outfits with stars on them. I had no idea there was a United States Public Health Service Commissioned Corps. But there is. And they protect America on the healthcare front. There's also National Oceanic and Atmospheric Administration Commissioned Officer Corps., which protects America from bad weather. Wait, I'm making up their mission, but not their name. Definitely learned something new today.

Teddy is snoozing comfortably (for now at least and hopefully all night). Dave is listening to one of his classes in the common areas. And I’m about to retrieve our laundry, fold it and work toward an early bed.

NIH Natural Histories Study - Day 2

We headed into today rather nervous about what the day would bring, given Teddy's reaction to everything yesterday. Our scheduled started with 7:30 a.m. fasting labs, but our day started when Teddy woke up at 4:40 a.m. (Although, to be honest, I'm not sure how much he slept in between kicking me, almost falling off the bed and flailing ... I give Dave mad props for sleeping with him most nights that we're away from home.)

It took nearly 30 minutes for the phlebotomist to get everything ready for Teddy, which seemed ridiculous to me until he walked us back to an actual room with two other phlebotomists. The trio of them tag teamed Teddy's blood draw, with one verifying the entire setup (then leaving) and two conducting the blood draw of 21 vials of blood. Teddy did remarkably well, with some tears and a few cries but mostly his normal demeanor. He gave both phlebotomists high fives before we walked out. When the EKG technician who tried (unsuccessfully) to do the EKG yesterday after the blood draw saw us walk out with Teddy smiling, he gave us an incredulous look and asked, "Really?" I said, "Yes, this is after 21 vials of blood."

We took advantage of Teddy's usual happy self to eat some breakfast and then snuck back for the second attempt of the EKG. I say "snuck" because Dave decided he was going to take Teddy and left me to decide if I was following him or telling the nurses we were leaving. I opted to tell the nurses, who said they'd walk us down to EKG. That's when I had to say that Dave had already left with Teddy and I was just letting them know that we'd be back for our next appointment (since they escort us to every appointment). That leads me to this brief list, which I'm sure will grow through the next couple days.

Dave's list of ideas on how to save the government millions of dollars:

1. Turn down the heat. Seriously, I swear every procedure room is hotter than a sauna.
2. Stop having escorts take us to every single appointment after designing a super fancy app that gives your turn-by-turn navigational directions throughout the entire complex.

I met up with my runaways at EKG to find Teddy smiling and cooperative. He tried to pull at the wires a bit and cried a little but was much, much better than yesterday. The reading wasn't perfect but was readable, which was good enough for us. Teddy was super helpful pulling off all the sticky tabs (whereas many children would cry or flinch for pulling off sticky things like bandaids) and even handed them to the technician. He gave the technician a high five and left smiling.

The EKG was quick enough that we were on time for our ophthalmology appointment. Teddy's never had his eyes checked but did  today. I was actually quite amazed at how much information they were able to glean from a non-verbal child who doesn't have the comprehension to identify matching pictures yet. That was the first thing we tried, and Teddy did point to a few things completely at random and often without even looking. So we switched to a different room and used boards with different patterns of lines to see if Teddy looked at or pointed at the lines instead of the plain board. He scored about 20/80 with the cards, but the doctor suspects his eyesight is better than his attention span to the activity. She did a variety of other tests using her rubber duck and different objects, which were all normal for Teddy. Teddy was fairly cooperative, although he definitely wanted to wiggle away.

One thing she noted was the dryness around his eyes, which she said combined with his perpetual runny nose and frequent rubbing of his eyes (which we always assume means he's tired) could point to allergies. They'll look closely for other signs of allergies tomorrow. These are the types of things that I think give us value in doing all these procedures. There's so much about Teddy that we don't know because we can't read his mind, so we make assumptions and quite frankly probably miss a lot of what he tries to communicate.

Our visit was pretty quick because everything else they'll check while he's sedated tomorrow, including determining his actual vision. If they tell us he needs glasses, we better find a pair that comes with superglue to attach them to his head. She did also recommend he go in for annual screenings both to continue checking his vision and to make them easier as they become more familiar. Personally, I think there's a big difference in someone who's prepared to do an eye exam on a non-verbal child with significant delays and any eye doctor I'd find locally, but maybe I'm wrong.

Since ophthalmology was much shorter than our scheduled time, that left us with a break. We actually got Teddy to sleep for about 30 much-needed minutes. He could have slept longer, but Dave made the mistake of trying to remove his arm from being crunched under Teddy. That's when Teddy woke up and decided we needed to play.

Teddy and I went to the main playroom, which is open limited hours and has a tremendous amount of toys maintained by recreation therapists. Teddy and I spent about 40 minutes there, riding toys, playing trains and helping a therapist check markers to see if they were dried out. Teddy spent most of his time, however, trying to get into the other room where someone was cleaning toys. Once that door was shut, he spent the most time playing in the sandbox.

When that playroom closed at noon, we headed back to his room for lunch. After Teddy ate his food, we walked outside for a bit to enjoy the sunshine. Teddy found a playground and pointed at it to show he wanted to play there. So we spent a bit of time outside playing until we had to head inside to change Teddy. One really nice thing for urine samples is they allow us to stuff Teddy's diaper with cotton, which they use to obtain the sample. This has to be so much more comfortable for Teddy than sticking a bag on him to attempt to collect it, which has leaked anyways in the past.

After we grabbed food from the cafeteria for Dave and me, we headed to our pre-anesthesia consult. We met with two nurses there to review Teddy's medical history, particularly his history of sedation for previous MRIs. They'll be sedating him for around 3 hours tomorrow to do all the invasive procedures as well as finish testing some other areas like hearing, vision and dental (without getting bitten). Teddy was OK during that consult, although he got a bit antsy. It was nice to move past the whimpering as soon as we entered the room.

The EEG was next on the the schedule, and that's where we saw much more of the crying and hysterics. The two-person team did a great job of placing the leads efficiently with a really great approach with Teddy, but he was not a fan of the entire procedure. He didn't try to rip the wires off his head as much as I expected but cried and screamed through the entire placement. He was mildly interested in his pretend person with fake EEG wires that he can rip off, but that entertainment lasted only a few moments. I think much of it was that he was exhausted again. When he's tired, he just cannot deal with what he doesn't understand and doesn't like.
 

Santa's elf who lost the bar fight?

He calmed down when Dave picked him up as soon as the wires were set, and eventually he calmed down enough to allow Dave to sit down. He even was fine when we removed his pacifier to finish the EEG. He did try to kick the strobe light, but who wouldn't? At the end of the EEG, he was calm enough and happy enough to give the technician a high five.

He didn't stay happy for long, though, because we learned that the VAD on the schedule stood for something that meant using an ultrasound to place an IV. Teddy whimpered as we entered that procedure room and began crying immediately. We had a few minutes of prep without tears, but he wailed when the IV was inserted. And I don't blame him. When someone you don't know wraps you in a big protective hold and forces your arm straight, that must really suck. I understand the need, so that the IV is placed well without Teddy moving, but he's only going to fight that. I think the guy was surprised by the strength of Teddy - he may have hypotonia, but that child has some serious strength to him. Of all the cries I've heard the past two days (and I've heard a lot), this was the only time I heard him cry in pain as she had to adjust to find his vein.

Teddy needed to be carried out of that procedure room because he was too hysterical to sit in his chair, but he was much better by the time we reached the lobby. We met with Lynne and Tara from his team to debrief and sign consents for tomorrow's procedures.

Teddy was understandably tired and crabby, but we were able to sign the consents and hear most of what Lynn said. His labs that are back thus far are all relatively normal, except one that I don't recall. It is related to immunology and is about 3 times higher than normal, if I recall correctly, which is elevated but not extremely elevated. She said the immunologist we meet with tomorrow would be discussing that with us.

We had about two hours to head back to Children's Inn to get a break from the hospital and grab some supper. We ate the taco meal that was brought in by volunteers but unfortuantely missed the cupcakes at Bingo tonight. (The volunteer raved about the cupcakes from Georgetown Cupcakes and said we should stop by at least for a cupcake, but it just didn't work out with the sleep study. She called them world renowned. Seriously. We missed that. They better have been amazing.) The highlight at the Inn was there were musicians from the National Philharmonic who played music following supper. We didn't get to stay for the entire time, but it was the perfect thing to perk up a sleepy Teddy. He really likes music, so he was smiling and tapping his foot. They had instruments, like egg shakers and little cymbal shakers, so Teddy got to play along. Apparently the lady playing the piano previously lived in New York and accompanied people auditioning for Broadway. Just an ordinary piano player, you know.

Dave looks skeptical. Teddy is enthralled.

The fun ended when we had to take Teddy back to the clinic for his sleep study. We arrived at 7 and entertained him until nearly 8 when he was escorted up for sleep study. It took a good 45 minutes to get him hooked up while he whimpered and then screamed and another 30 minutes or so to fall asleep. Poor kiddo was exhausted and then taken to a different room, hooked up to a whole bunch of wires and belts and stuff and was understandably overtired after another huge day today and staying up 2 hours later. After he dozed off, I snuck out of the room. We had anticipated only one of us being allowed to stay for the study, so we hadn't planned for me to spend the night there as well. I think they would have let both of us since Dave was in the bed with Teddy, so the guest "bed" was available. I feel as though I should be there but also wanted to unload all of today's occurrences and have one of the three of us get some sleep.

Dave is my hero. I would not want to be here without him. He has the magical gift to get Teddy to sleep, and me, I'm the fun one. Seriously, I'm the one who Teddy tried to make sit in the little car that we use to push him around the hospital. He was very persistent, so I straddled the car and duck walked around while he "pushed" me. He's also tried to make me ride a boat, which I refused because I would have broken it, and the airplane at the airport. Wait, maybe that makes me the gullible pushover instead of the fun one?

Oh, we also visited the gift shop today to get Teddy his souvenir NIH t-shirt and Dave a book on algorithms for human behavior. Seriously, I'm not making that up. There are a lot of really, really smart people here, and the gift shop markets to that population. I've never heard people during lunch before discussing researching this molecule, etc.