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?