Rare Disease Day and Osteogenesis Imperfecta Type IX (Type 9)

Today, February 28, is Rare Disease Day – and so it seems fitting to share with you today that we’ve received some new information about the specifics of FangFang’s diagnosis of osteogenesis imperfecta.

With osteogenesis imperfecta (OI), it is possible to receive a clinical diagnosis or a genetic diagnosis or both. A clinical diagnosis is based on observations made by a doctor of features that are associated with osteogenesis imperfecta. FangFang has had a clinical diagnosis since the early days of her life. It was made in China and confirmed in America. There are a number of different types of OI, each associated with a different genetic mutation and each having slightly different effects, and a type can only be determined with certainty via genetic testing, but guesses can be made based on clinical presentation. Because of the specifics of her presentation, FangFang has been clinically assumed to have osteogenesis imperfecta Type IV, which is generally moderate in its severity.

Osteogenesis imperfecta itself is a rare disease. The current estimate is that approximately 25,000 – 50,000 people in America have the condition. The geographically closest person to us who has OI and whom we know lives 2 hours away. That means I rely heavily on Facebook groups and connections I’ve made online within the OI community for my learning and information about how to best parent FangFang in light of her diagnosis.

Even within the umbrella label of osteogenesis imperfecta, though, different types occur with differing frequencies. And yesterday I received a phone call informing me that, while we had all assumed FangFang’s genetics tests would yield a result of Type IV osteogenesis imperfecta, that is not actually what they showed. She, in fact, has Type IX (Type 9) OI.

There is no one else in our 2,000+ member Facebook group of parents of children with OI whose child has been diagnosed with Type 9 OI. When I asked in a larger group that is open to adults with OI, as well, the responses were the same – interest, for sure, but no one else is reporting having that same diagnosis. That’s a bit of a lonely place to be!

In a worldwide database tracking reported cases of OI, there are a grand total of 16 cases ever reported of this type 9 osteogenesis imperfecta.

This is the face of someone with a truly rare disease.

We don’t really know yet all of what this means. To be honest, we probably won’t ever know. Research into everything about osteogenesis imperfecta is still so new. The bisphosphonate treatments that FangFang receives quarterly to strengthen her bones have only been around for 20 years or so. Sometimes one drug or another works better for people with a certain type – but if there is no one else with your type, there’s no way to know until you try it. FangFang’s type is so rare and newly discovered that it isn’t even listed specifically on the OI Foundation website. Really, I expect that no one knows much about it.

I have an e-mail out to the doctor who is the most likely person in America to know anything about Type 9 OI. He is no longer officially part of FangFang’s care team in Omaha (he took another position at another hospital a few months ago), but he is a good guy, and I hope he may have some information for me.

Until then, I have resorted to consulting Dr. Google – and even Dr. Google has failed me. I spent about 2 hours yesterday searching and found next to nothing available publicly. I’m aware of its rarity, its inheritance pattern, and the gene it affects. That is all. There simply is not general information about this condition available in an easily accessible form.

And so, this week (and beyond, I’m sure), I’ll be scouring medical journal articles, to which we, thankfully, have access through Matt’s position at the university. Not being a doctor, trying to read medical journal articles is not really my preferred pastime, but I want to arm myself with all the information I can find, so I can do everything possible to obtain the best care for my daughter. I hope we’ll do alright. And I hope we can be a resource for anyone coming after us.

Christmas 2017

It has been several years since we have traveled for Christmas, but this year we made the trip to Wisconsin, where I grew up and where my mom still lives, to spend Christmas with my mom, my dad, and my brother David (Daniel was out east with his wife Sharon and her family).

It was probably a good thing that we were heading north instead of hosting people here. Traveling for FangFang’s latest surgery and then continuing to help her recover once home, plus trying to get in a bit of schooling with the big kids, and just live life (feed everyone at least 3 meals a day, make sure everyone has clean underwear, and keep everyone alive) was pretty much all I could handle the couple weeks before we left. This was the extent of my Christmas decorating.

And you know why that was up? It’s because my mom made it with Miranda last year while I was in China, and Miranda didn’t want to take it down, so it stayed up all year. And ripped. And I just left it there. We did no Christmas tree at home, no Christmas crafts. We did watch some Christmas movies 🙂 Matt did some Advent stuff with the kids. And I started reading through the Jesus Storybook Bible Advent reading plan with them…and then failed to finish it. But this year’s holiday season was one of realizing that we could not do it all and that we needed to prioritize what was most important, focus on that, and not sweat the rest. We talked about Christmas being a celebration of Jesus’s birth and what that meant. We listened to Christmas music. And we looked forward to heading to Wisconsin to be with family 🙂

The big girls were very excited and told many people that while everyone staying here was probably going to have a green Christmas in Missouri, we would be enjoying a white Christmas in Wisconsin. They were rather disappointed when we arrived to only small patches of snow on the ground. David and I took all the kids for a walk a couple days after we got to Wisconsin, and they collected all the snow they could find in this stroller and then brought it home and dumped it outside the window of my old room, where the big girls were sleeping, so they could look out at it to enjoy a white Christmas!

Unfortunately, it was really cold, so that was pretty much our only outdoor outing for the whole trip. We did have a lot of indoor entertainment, though 🙂 Madeleine CaiQun’s siblings got her a paleontology excavation kit for Christmas, and she chipped away at it (sometimes with a bit of help from Miranda) until she had uncovered every single bone and put together her dinosaur model!

Miranda has been interested in learning more about how to sew, so she dove into this sewing kit project as soon as she received it!

We’ve learned, over the years, that our kids do better with a “Christmas season,” as opposed to one giant, overwhelming morning of a million presents and no time to enjoy any of them, so we started letting them open presents, one or two at a time, several days before Christmas.

Even so, Christmas morning was a big deal 🙂

I love these photos of my kiddos spending time with family and enjoying their gifts <3

We made our traditional Christmas cut-out cookies and frosted them the evening of Christmas Day. Somehow the frosting turned out super runny this year, which made things more difficult than usual, but we managed to enjoy the evening and make some nice cookies 🙂

The time in Wisconsin was, overall, very relaxing. We didn’t go out much – it was freezing cold, and Matt had a sinus infection that sent him to urgent care (and then back to bed) early on in our trip, so we ended up spending a lot of time just relaxing at my mom’s. That wasn’t all bad, though. Matt made a lot of small artworks. I read some books. The kids played and had space to really enjoy their time with extended family. Miranda played more games of Yahtzee with my dad than I could count. We received several more cooperative games for Christmas gifts, and we all enjoyed playing those together. There was time to play with Playmobil and puzzles and, of course, dinosaurs. Some of us adults frequently played cards after kids were in bed…and Atticus woke up a couple times and sat with me while we finished our games 😉

And we did get out a bit. In addition to our Chicagoland trips, I finished reading Wonder out loud to the big girls, so the two of them and my mom and David and I went and saw the movie one evening. And after Matt started recovering, we were able to go out and connect with a few friends in the area. Miranda found a fellow climber in my cousin’s daughter, which was so fun to see!

Overall, it was one of the most relaxing Wisconsin trips we’ve had. I think we often pack them full of things to do and people to see, and while I love getting out and enjoying other places away from home and connecting with friends and family, our last few weeks leading up to Christmas were intense that it was probably perfect timing for us to have some pretty low key time with family. It was a good Christmas celebration!

Our Little Atticus Boy is 3!

At the end of November, our little Atticus boy turned 3!

It was actually a really hard day for me – because I was in Omaha with FangFang and not with him. I’d known for quite a while that her tibias needed to be rodded, and I knew that if at all possible, she and I and another adult needed to go to Omaha for the surgery. FangFang, at age 4 and with a history of trauma, is completely opposed to my leaving the room after surgery. She doesn’t want to stay with a nurse, and she doesn’t want to stay with child life. This is understandable – but makes it difficult for me to do surgery trips with her as the sole adult (unless I can carry everything we’ll need for our stay in one trip and have no interest in eating for the duration of our time in the hospital). I talked with my mom about her availability, and I talked with a friend whom FangFang loves about her availability, and it just kept coming back to that week of Atticus’s birthday – that’s when it worked for my mom to travel with us to do surgery.

So I talked to some other mamas of kids with medical needs, who assured me that, yes, they had occasionally missed a birthday for one of their other kids, and it had all been okay; I spent a day crying; and then I e-mailed to schedule the surgery.

Fortunately, Atticus is young enough that he has no real ties to the specific day, and he was quite happy to celebrate his birthday early. In fact, it was probably even more fun for him, because we had family in town for Thanksgiving. We did love getting to celebrate with everyone!

Our little guy is obsessed with dinosaurs these days. Just about every present he received was dinosaur-related. There were dinosaur toys…

…there were dinosaur books…

…and there were dinosaur clothes!

Atticus, like our other children, has what our pediatrician calls a “strong personality.” One way in which this manifests itself is his pronouncements that certain clothes are good and others are not, seemingly at random. We have kiddos who have sensory challenges and preferences, and this isn’t that – it’s just a decision he makes. So, unfortunately, while he wants to wear dinosaur clothes on a daily basis, he has also announced that half of these items of clothing are unwearable! Youngest child or not, he has no problem developing firm opinions of his own and making them known.

He is almost completely potty trained (hallelujah, I’m almost done with daytime diapers!!!!), which actually makes this clothing dilemma less of a big deal, because he is my only kiddo who has had most success with the nude method of potty training…so he mostly runs around naked all day long when we’re at home 🙂 We may not be a conventional family, but it works for us 🙂

Anyway, back to our birthday boy and his dinosaurs 🙂 Even with many new birthday dinosaur presents, he is still excited every time he finds a new dino item. He was my grocery shopping buddy soon after his birthday, and he saw this walking, roaring dinosaur at Aldi, and he was so excited when I said he could use his birthday money from my dad to purchase it!

Aside from his dinosaur focus, he also requested an ice cream focus for his birthday 🙂 He choose pizza and ice cream for his birthday dinner, which was greatly enjoyed by everyone!

About 3.5 years ago, when we found out that the baby with whom we were pregnant was a boy, I was a bit intimidated. I wondered whether I’d be a good boy-mom. I wondered if I’d love him the way I loved my girls. And now, with a little 3-year-old boy in my life, I can say unequivocally that this little guy is a treasure. Our Atta-boy has hilarious thoughts – I mentioned to him the other day something about when he was born in the hospital, and his response was, “I was not born in the hospital! I was born on the coffee table!” The girls and I dissolved in laughter, and I assured him that he was in fact, born in the hospital, and I offered photographs as proof (which he, fortunately, accepted!).

He’s a climber and a jumper, but he’s also a snuggler. He loves to laugh and play. I could not love this little guy more <3 I’m so thankful for the 3 years we’ve had with him so far and look forward to many more!

One Year with FangFang

This week we celebrated one year of life with FangFang! It has been quite a year. She was not a fan of us (of me, in particular) at first, and candy was my biggest ally.

But even on that first trip, in China, we saw glimpses of the joy that we now know permeates her heart and soul.

These first kisses were so precious to me.

And she warmed up to Matt pretty quickly once we were home 🙂

It has been quite a year since then. We’ve traveled to Omaha 4 times for 1 clinic visit and 3 surgeries…and we hope not to head back until the middle of next year!

While FangFang still uses butt-scooting as her primary form of mobility at home, she’s also learned to crawl and stand and even cruises on the couch! And, after some fighting with the insurance company, she got her first wheelchair for increased mobility in public places.

And beyond all these skills, we’ve grown as a family. Any time a new person joins a family, all of the family dynamics change, and it takes time to make those adjustments. We’re still figuring out all of these relationships ourselves and coaching our children through them – I expect that will remain true forever 🙂 But it feels like every member of the family is more settled, and we’ve grown into pretty stable, positive places!

FangFang was excited to celebrate being part of the family for a whole year, and we were happy to go along with her requests for Chinese food and ice cream 🙂 FangFang is passionate about all things China, but really, one thing everyone in the family can agree on is Chinese food! Atticus had a hard time leaving the park Matt had taken the kids to visit that afternoon, and Madeleine CaiQun comforted him by telling him, “It’s okay, Atticus, we’re going to have Chinese food for dinner!”

FangFang, you are a true source of joy, and we are so glad you are home and part of our family <3


Home and Recovering Well!

Those of you who follow me on Facebook or Instagram are likely already aware, but my last update here was from the morning after surgery, so we’re overdue for a post here!

FangFang’s pain remained under control with oral pain meds throughout the day on Wednesday, and we were able to get her Pamidronate infusion that afternoon, so we were discharged from the hospital reasonably early Thursday morning! We so appreciate everyone who is a part of FangFang’s care team in Omaha, but it is so good to get out of the hospital. FangFang is so much more herself, and if I can handle everything she needs at home, this is a much better place for her to continue to heal and recover. We made it home Thursday evening, and it was a huge relief to be back together as a family again.

It’s interesting, though – re-entry is always hard. Or maybe that’s just my family? 😉 I doubt it. Kids are perceptive. FangFang obviously needs extra care and attention after surgery, but my kids who stayed at home had also been away from me for 3 days, and they crave reassurance that they matter, too. Thursday evening was full of not a few meltdowns 🙂 But we made it through!

My mom stayed through Friday, and we had a low key day at home. Honestly, a lot of it looked like this – kids sprawled out on various chairs and couches and on the floor, watching tv.

My aunt and uncle sent some Ni Hao Kai Lan DVDs, and it has been nice to have something new for everyone to enjoy! We have some pretty consistent screen time limits at our house, but the reality is that FangFang currently has 3 limbs immobilized, which makes many activities difficult, if not impossible. We’ve been doing a bit more screen time than usual, and I think that’s entirely appropriate, all things considered.

But we’ve also been easing back into our normal routines. We took 2 weeks off of school while we had family in town for Thanksgiving and then while FangFang and my mom and I went to Omaha for surgery, and it’s always a bit difficult getting back into the groove after a long break. I’ve kept expectations low, and I planned for us to make a truly slow transition, and it’s been going alright 🙂 It takes a lot of work and consistency from me, but we’re getting there!

We’re working with the littles on letters, which they are greatly enjoying!

And the bigs are managing to work some fun into their school days 🙂 Miranda Grace spent some time the other day building with Madeleine CaiQun’s math blocks.

She announced, “This is the story of Vader and how he comes face-to-face with God.” This girl never lacks for creativity 🙂

And for her part, Madeleine CaiQun had some fun making herself into a bean-bag person upstairs.

I’m pleased that we’ve made the transition back to normal life as well as we have. Of course, I’ve been plagued by a cold for over 2 weeks now, and both Miranda and Atticus have been coughing some the last couple days, but I’d hoped everyone else was going to escape the worst of this illness. Miranda has been feeling pretty awful today, though, so I kept her home from swim practice and set her up on the couch for some extra rest and relaxation.

I’m hoping we can make it through the next couple weeks without any more illnesses and we can get a bit more school done before it’s time to disrupt all of our routines again for Christmas!