Monday, January 22, 2018

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 ... 

Sunday, January 21, 2018

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.

Wednesday, January 17, 2018

I Want A Donut

Seriously, after today with Teddy, I want a donut. For whatever reason, I was his favorite person tonight, which meant he dragged me all around the house to do his bidding and screeched and screamed if I walked away. Normally he's cool with Dave, so I can do dishes, which is relaxing compared to being Teddy's toy.

But this isn't about me complaining about spending time with Teddy, which I know I should always be grateful to have. This is about Teddy this past Tuesday. He had labs drawn to make sure his anti-seizure medication is at a therapeutic dose. Unlike most kids his age, he barely flinched at the needle and even smiled at the people drawing his 3 vials of blood. There are some benefits of his high pain threshold.

When we were at the store afterward, I paused in front of the donuts because I was considering getting him a treat for doing so well. He saw the donuts and pointed to them, index finger sticking out toward the display case. That removed any doubt-we were getting donuts.

I understand it's ordinary for children to point at what they want. But this is the first time I have noticed Teddy spontaneously point to something to show he wanted it. He's been able to point to make a choice between two items when prompted, but this was a milestone.

Asking for a donut. The extraordinary in the ordinary.

A donut worth words.

Sunday, January 14, 2018

The Time My Husband Gave Me a Panic Attack

Yesterday I got the following text from my husband:

Teddy took another ambulance ride to Childrens
Now, picture only seeing the text, "Teddy took another ambulance ride to Childrens (Hospital.)" That's the text from Dave that I got on my Smartwatch yesterday afternoon. I was in the basement putting away things from my friend's baby shower at my house. I immediately ran (which I'm not supposed to do on my stress fractured tibia) up the stairs while screaming, "No, no, no!!!!" I dived for my phone to get more information and saw the picture.

My immediate reply text to my husband was three words. One was "you." The other two were for mature audiences, only but they rhyme with ducking rastard. (I did apologize a few minutes later once I could breath again.) My two closest friends were still at my house from the shower and were asking what was wrong as I ran through my house screaming. I replied "Nothing" and tossed my phone at them to see the text.

Then I went back to the basement, curled in the fetal position and sobbed for a few moments while reassuring myself that Teddy was indeed fine and everything was OK. I went back upstairs and apologized to my friends for completely freaking out.

I'm not surprised that I had such a visceral reaction because I had similar experiences after I lit myself on fire. There was a time when I was in the same room as bacon cooking where it sounded exactly like the grease fire that burned my hand. In an instant I dove under the kitchen table and hurled myself into the bathroom. There's a whole lot of mental and emotional trauma from our experience last month still for me. I had known that, but yesterday confirmed that without a shadow of a doubt.

I'm actually hoping that yesterday was one of those moments that helped me process more of the baggage that is still hanging around from last month. I know Dave meant the text as a joke, and I would have been able to roll my eyes at it had I seen the picture with the text. I'm just glad he sent the text when only my two closest friends were here instead of a houseful of 20 people who I barely know to witness me wig out.

Today I can see the humor in my reaction to what was intended as a humorous text. I'm still not sure there's a morale to this story. Maybe that Dave is still alive and didn't need an ambulance ride of his own after sending that text message?

Wednesday, January 10, 2018

Joy to the World

“Joy does not simply happen to us. We have to choose joy and keep choosing it every day.” 

These words from Henri J.M. Nouwen are true for most people, yet interactions with Teddy would beg otherwise. When I came home from work today, his smile and excitement to see me exuded joy. When I look at the board of pictures of my children at work, I see AJ's weird faces for the camera and Teddy's unending joy.

Pure joy. And I'm not sure what that expression is on AJ's face.
 Teddy, simply put, lives joyfully. That's not to say that he doesn't experience frustrations or bad days. He does, without a doubt. He has moments of every day, some more than others, that are just plain miserable (many of which could be cured with a bit more sleep). But he is a joyful child. He finds joy in the little things, like his parents coming home from work, seeing his bus for school, seeing a friend, chasing his brother and especially doing all those sassy things that he knows he's not supposed to do like stand in the toilet.

Again, that smile radiates joy.
 As his mom, especially the past few weeks, I've really struggled to choose joy every day. There's a lot of anxiety, fear and a general feeling of blah that I attribute to our escapades at the ER and ICU. I recognize the incredible blessings of our lives, particularly that Teddy recovered incredibly well to his usual joyful self, and how fortunate we are. Yet I can't deny the past few weeks have been challenging, although I feel like yesterday was the start of the upswing in my pendulum. Normally my funks don't last this long, but then again, there was nothing normal about that seizure episode.

But this post isn't about me and my struggle to choose joy. It's about the fact that I recognize the joy in Teddy. His smile, his pure happiness when he looks at other people, makes their days brighter. We've often said that his smile, complete with those dimples, is one of his gifts.
All smile. No eyes.
 Which makes this quote from Pierre Teilhard de Chardin all the more fitting:

 “Joy is the infallible sign of the presence of God.”

Friday, January 5, 2018

Teddy is ...

"Teddy's really excited today!"

"Teddy's really silly today!"

"Teddy's a good boy."

These are all things I hear when I help Teddy off the bus each afternoon from his friend Max, who sits by Teddy. I wrote about their friendship when they started sitting together and having so much on their bus ride home.

The week before Christmas, I wrapped a book for Max and wrote a Christmas card thanking him for being Teddy's friend and telling Max how much fun Teddy has with him. I also included a note to his parents to let them know how incredible their friendship is, despite Teddy being non-verbal, since they don't get to witness their interactions. I feel blessed to see the two of them together and wanted Max's parents to know how happy these two are together.

This week Max gave Teddy a present and a card. Teddy was excited to get a book with two Little Critter Stories: When I Grow Up and When I Get Bigger. (Max and Teddy often read together on the bus.) The card had the sweetest notes, one from Max thanking Teddy for being his friend and for the book. The other, from his mom, makes me smile every time I read it:

I am so happy that Max has made a friend! He talks about him every day. I love that those two just understand each other. They just get each other. I can't wait to see how their friendship blossoms.
This makes me smile. Every time.

I don't know Max's story. I don't know what school looks like for him. I do know that he and Teddy are the best of friends on their 40-minute bus ride together. They make each other happy and have fun together. I'm pretty sure they entertain the bus driver and aide. And they melt my heart every day.  

Tuesday, January 2, 2018

He Knows More Than We Realize

Teddy is a charlatan. Actually, he's the exact opposite of a charlatan.

A charlatan, according to, is noun. 1. a person who pretends or claims to have more knowledge or skill than he or she possesses; quack

Teddy pretends or claims to have less knowledge or skill than he possesses. 

For example, he drags the entryway bench to the basement stairs and launches it down the stairs. I tell him no, and he just stares at me. He pushes AJ or roughhouses AJ to the ground. When we tell him no, he stares at us like the word has no meaning.

Yet, this is the same child who this weekend found a dollar bill among the Christmas gifts. He walked into the kitchen and located a wallet on the counter. He grabbed the wallet and attempted to put the dollar in the wallet because he knows that's where money belongs.

It's also the same child who took every item from the silverware holder in the dishwasher and crammed each utensil into the silverware drawer. The pieces might not have been in the exact positions, but he knows that's where silverware is stored. (Thankfully, I was unloading the dishwasher, not loading it, at the time.)

So, Teddy, I'm calling your bluff. You're plenty smart enough to know the word no.

Now, if anyone has any brilliant ideas for us to reinforce the meaning of the word, I'm all ears. Things like timeouts don't work so well for a child who is constantly in motion unless I were to physically hold him in place the entire time.