One in a Billion

Earlier this spring, we were interviewed by the Milwaukee Journal Sentinel about our experience with exome sequencing to obtain Teddy's diagnosis. One of the first recorded instances of using exome sequencing to diagnose and treat a person involved a child treated at Children's Hospital in Milwaukee. The reporters who won a Pulitzer Prize for their series on that child released a book this spring One in a Billion that details the amazing story of a genetics team that pushed it's goal for exome sequencing a patient for the purpose of medicine up by 5 years to save the life of this little boy named Nic Volker.

The story that changed our lives ... before we knew it.

After reading the book, Dave connected to Nic's mother via Facebook and told her that our family owes her family a debt of gratitude. After reading the book, I completely agree.

This family paved the way for the testing that gave us Teddy's diagnosis, not only in the world, but at the same hospital where Teddy was referred. One of the neurologists who treated Nic is the same neurologist who referred Teddy for genetic testing. I'm sure all doctors know that genetic testing is now an option, but I wonder if he wasn't quicker to refer because of having been involved peripherally with the care of the first child sequenced.

The genetic counselor who met with the Volker family is the same one who spent hours explaining to me exome sequencing, the risks and the potential rewards. The conversations we had mirrored those she had with the Volker family. This genetics team set the standard of what information must be released with families and what families can choose to know, which can be a remarkably complicated topic. (There were 6 categories of information, some of which would automatically be released to us and most of which was our decision ahead of time what we wanted to know.)

Although the Voker family endured far more medical challenges than I ever hope to encounter, I connected immediately with this story because in many ways it mirrors ours. A family searches for answers, unable to find a diagnosis through traditional methods. This family pioneered the technology that gave us a name to Teddy's syndrome, as we called it before we knew it as Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1.

I know the future of genetic testing and diagnostics is rapidly advancing. It amazes me me think that the process that took from early summer until November 13 for Teddy can now be done in less than 2 days. (I think that although Children's Hospital was a pioneer in exome sequencing, they're not necessarily the leader now with the best technology. Heck, nobody expected a group of people in Wisconsin to pioneer this ... Wisconsin isn't exactly the world-renowned for much aside from cheese, Green Bay Packers and beer.)

If you're looking for a deeper understanding of how Teddy was diagnosed and the marvels of modern medicine, I highly recommend One in a Billion.

Family Hugs

Yesterday, I came home after being gone 5 nights. And it felt good to be home and see my boys again.

AJ hugged me tightly, squeezing his eyes shut in pure bliss to be in my arms. Teddy gave me the most complete hug I've ever received from him, squeezing and holding both arms around me for the first time I can recall. And Dave cried tears of sheer joy to have me home. (OK, I'm joking there. He actually said he felt like he cheated because the sitter had the boys 3 days, and our sister-in-law largely watched them the last 3 days because Dave was helping his brother build a garage.)

It felt so good to be so appreciated by both boys. I know they love me dearly, and I love them fiercely as well. But we spend so much time together that we never have the opportunity to actually miss each other ... or fully appreciate how awesome each of us is. This break gave us the chance to do that.

Maybe Teddy missed me, maybe not. He was certainly happy to see me. I know AJ missed me. AJ told me as much. And he asked repeatedly when I'd be home.

If I'm being perfectly honest, I didn't spend my days missing my children. I was happy to be back and happy to see them, but I didn't really miss them. I was too busy with work meetings and making the most of my time to myself. Had I been gone a bit longer, perhaps I would miss them.

Maybe I'll try that next time.

Filling My Bucket

"The mountains are calling and I must go."

How can you not answer this call?

This John Muir quote captures perfectly how I feel about the mountain. So when a work trip to Boulder, Colorado put me an hour away from Rocky Mountain National Park, I took full advantage to explore more of one of my favorite national parks. (My current top five includes, in no particular order: Rocky Mountain, Zion, Yosemite, Isle Royale and Canyonlands. This list is subject to revision upon visiting the remaining national parks.)

Considering Dave just came home from nearly two weeks in Europe, I didn't feel too guilty tacking an extra two nights onto my time away from home. (He had the sitter for three full days while he worked (much shorter days than normal for him) and only one tumbling class where he got to watch AJ. Trust me, I did my best to make it an easy 6 days for him.) I packed an extra bag with a tent, sleeping bag, sleeping pad, hiking stick, hiking boots, daypack and perhaps the most important item: a hammock. Do you know how relaxing it is to lay in a hammock by yourself without feet and arms and children smushing every part of your body? I do now.

I managed to put on more than 20 miles of hiking (with 3 pitiful running miles because I simply couldn't pull in enough oxygen to run) in less than two days. I hiked my pace, when I wanted, where I wanted and loved every moment of it. I saw amazingly beautiful lakes, rivers, forests and mountains.

I thoroughly appreciated the opportunity to carry only what I needed for myself instead of family-sized portions of food, water, diapers and, you know, 35 to 40 pounds of child. But as I enjoyed the serenity of a mountain lake, I also realized that I will carry Teddy wherever I can for as long as I can because he deserves to enjoy the amazing wonders that can only be found by hiking.

Imagine enjoying this view all to yourself.

Plenty of people seemed in awe that I camped by myself. I didn't really.  I mean, there was a bear in the campground as I was setting up my tent ... with a ranger using an air horn to encourage it out of the camp sites. I had a deer wander 25 feet from me in my hammock. I had some random guy open my bear box thinking it was a garbage can. (I'm still a bit confused by that because every site has a bear box, and the rules are explicitly explained to you when you check in that all smellables need to be stored in said bear box ... not to mention that my bear box was in my camp site 10 feet away from my hammock where I was hanging out.)

Hiking alone was also quite concerning, particularly to my mother. I recognize that anything could happen anywhere, but I firmly believe I'm exposed to far more dangers in populated cities than hiking where I did in Rocky Mountain. I've come to to the realization that although I might not want to encounter a rattlesnake or black bear on the trail, they likely will not kill me. Grizzlies and mountain lions, on the other hand, probably would view me as a tasty treat. Thankfully, Rocky Mountain has no grizzlies, so I just kept an eye out for the mountain lions I would never see until they pounced on me.

I love hiking by mountain streams.

My time in the mountains was everything I hoped it would be. There's something magical about the mountains that restores my balance and completes me. I only hope I can answer their calling again soon.

Jump Around

Happy 4th of July to you! We spent the weekend up north with Dave's family, which is an awfully fun place for our boys to explore and play with their cousins. They enjoyed the swing set, the sand box, the trampoline and the assortment of tractors, 4-wheelers and lawn mowers. Teddy's favorite thing is to rotate among all the vehicles, climb onto one, sit there proudly for 30 seconds and then move onto the next one.

As I watched Teddy's younger cousin bouncing happily on the trampoline, I was wistful for a few moments. Although Teddy likes to be bounced on the trampoline, he's a long way from independently jumping on the trampoline. The moment passed as I went to chase Teddy to the next climbing obstacle. (For the record, he's fairly safe with all except for the tractor. That's where I spot him pretty closely.)

Later that night, Teddy was supremely excited to be near his bigger cousins and brother playing on the air mattress. Teddy was standing near the extra-tall mattress, swinging his arms into the bed to bounce it. That's when I noticed that he was jumping at the same time. I kept watching in amazement as he jumped in excitement. He was stabilized by the bed, but he was jumping in his own way. That accomplishment swept away that wistfulness from earlier in the day.

Our fun continued with swimming at the lake, ice cream at town and more time playing with cousins. Teddy managed probably the funniest moments of the weekend simply by being himself. When we were tossing horseshoes, Teddy was buckled in the stroller to keep him contained away from flying metal objects. Well, he reached around, snagged a Mike's hard lemonade from the drink stand atop the stroller and proceeded to do a nice long pour from high in the air covering himself. Thankfully, his aim isn't so swell, so he only got a taste. He certainly had quite the style ... a classic Teddy moment. (And if you think about all the fine motor skills to pull off that escapade, well, that's like a whole session of OT in less than a minute.)

The other classic Teddy moment was also a testament to how far his fine motor skills have come. At breakfast this morning, his younger cousin was eating watermelon next to him. All the adults warned her to keep her fork away from Teddy, but Teddy decided he needed more watermelon. He quickly reached across his body, grabbed her fork and shoved her watermelon in his mouth in one smooth move. None of us could stop him, partly because he was that fast and partly because we were laughing so hard. (We did make Teddy share a bite of cookie in exchange for the pilfered fruit.)

For all the times I let myself become melancholy about the struggles Teddy faces and how much harder those struggles make life, Teddy manages to do something amazing ... and often hilarious. It's his way, and God's way, of reminding me to let Teddy be Teddy. He's amazing in his own right. 

Together Again

It's a beautiful day in the Blondheim household. My boys were reunited this evening after Dave being gone nearly two weeks for a work vacation, as AJ called it. All of us survived, but we were equally happy to see each other.

AJ was helping Teddy look at the camera.

Of course, we had a party for Papa coming home, complete with balloons, signs, streamers, party hats and presents. AJ was so excited to find this gigantic party hat at the Dollar Tree because Dave never wears party hats because "they are too small" for his head. AJ found one that wasn't too small for his head. (Me, I just laughed and put it in the cart. Mom has to have some fun when Dad is roaming through Rome.)

How to Create an Integrated Tumbling Class ... as Described by a 4-Year-Old

AJ is taking a tumbling/gymnastics class this summer through the rec department in Oshkosh. It's one of those things where he cries and throws a fit that he doesn't want to go and then has a splendid time. (I signed him up solely for the socialization to help him develop those skills.)

After his first class, he asked about Teddy taking gymnastics. I explained that Teddy is too young this year because you have to be at least 3 to take this class. I said Teddy would be old enough next year. AJ informed me there were some things they did in class that Teddy already knows how to do, like bear crawling. AJ said there were some things that Teddy would need help with, like the activities that involve jumping. "It's OK, Mama. I will tell the teacher, 'You can help Teddy with this.'"

There you have how to integrate a child with different abilities into a gymnastics class through the rec department. Do what you can how you can and ask for help when you need it. That's truly how simple it can be for a child like Teddy. I hope the Oshkosh rec department feels the same way next summer. If not, I guess I'll just have AJ explain it to them. (Because, by golly, Teddy sees all those mats and wants to join the fun!)

Flying Solo

So Dave has been gone for work for more than a full week ... and we still have to wait until Friday evening for him to come home. He left last Sunday early in the afternoon to head to Europe for work. He spent the first week touring different companies in Switzerland, Italy and Germany, including BMW. That is exactly the type of thing that fills his bucket, so I'm glad he had the opportunity. He's spent this weekend sightseeing in Rome, which has been amazing for him, and he'll spend the rest of the week in Italy for the first run with a die-casting tool his company is purchasing.

As AJ calls it, it's Papa's vacation. Dave was creative enough to take along a Lego pirate captain to photograph for AJ in different places on his journey. It's been great for AJ to see all the different places where Papa has been. (And Dave got frisked by German airport security for having a Lego sword in his pocket.)

We've been able to talk on the phone briefly more days than not and have managed to Skype once or twice. The 7-hour time difference makes that a bit challenging. AJ enjoys seeing Papa with Skype and talking to him, and Teddy gets so excited to hear Dave's voice. I can only imagine how excited both boys will be to see Dave again.

I give all the credit in the world to single parents, military spouses during deployments and other parents who are solely responsible for the health, safety, happiness and all other aspects of their children's lives. I dreaded Dave leaving so much that I knew I'd be better once he left. And I was.

We've managed to finish a week of AJ's swim class, thanks to our sitter handling Teddy all those nights. We started AJ's tumbling class with the amount of tears I expected from him. We all had fun at the Children's Museum for Teddy's 0-3 session. I've managed to escape to work a few days (with one more scheduled this week). We spent the weekend playing with the boys' cousins. The lawn is mowed, the garden is (finally) weeded, strawberries are jammed and I got my long run done this weekend.

Teddy's been putting himself to sleep every night except when we were at Grandma's house. It was rough the first night and again tonight after the weekend at Grandma's. He's had one night where I got to keep him company from 3:30-5:15 a.m., but at least he was tired enough that I was able to doze off and on in his room instead of wide awake Teddy who wants to play.

Teddy and I have taken advantage of our friends and family to spend some time together. We went to the local water park last Sunday, and Teddy had the best time. We went down the water slide 12 times! (Imagine me carrying a wet, slippery Teddy and a tube up 2 flights of stairs. Yeah, after two times, we switched to the slide that didn't require a tube, which Teddy liked even better.) We stopped on the water slide after my wrist was literally numb from carrying my lovable lunk. We may have looked extremely ungraceful exiting the lazy river, but neither of us drowned, so it was a success.

I'm smiling because I'm done hauling Teddy up the stairs for the slide.

I greatly appreciate all the help, whether it's a friend offering to take AJ for ice cream or for a sleepover. As I told my folks, for these two weeks, I'm all about leveraging the odds in my favor of surviving with some of my sanity.