Spring Break Excitement…Or Not

You may be wondering what a family of six that is saving money for a fun summer trip (as well as continuing to rebuild the emergency savings account that was wiped out with the last adoption!) chooses to do for spring break. It turns out…not much. Well, that’s not exactly true. We’ve been doing a lot – it’s just that none of it is particularly exciting.

In fact, with the exception of a blissful 36 hours in which everyone in our home was fever-free, we have had at least one sick child every day for the last 11 days. We’ve had runny noses, coughs, and fevers, and yesterday we added a confirmed ear infection to the litany of afflictions. The downside of having a lot of children is that illnesses can slowly make their way through them, one at a time, rendering at least portions of the family home-bound for long periods of time. We’re thankful it’s not worse, but this is getting pretty old!

In a way, it’s been nice that the weather has been so yucky – 40s, maybe 50, cloudy, rainy, and muddy. At least we haven’t felt like we’re missing out on much! Even though this week is Matt’s spring break, the kids and I are plugging away at school. We may as well do school now, when weather is yucky and everyone feels bad, so we have more time to enjoy the fun, warm, sunny days when they arrive.

dinner table school

We also have a number of medical needs in our family, and poor Matt is at my mercy this week, as I’ve scheduled as many appointments and meetings as possible to try to avoid having to drag all 4 children to everything. So far we’ve tackled an eye doctor appointment for one child, a meeting about access to our church’s children’s programs for one of our kids, an unexpected pediatrician appointment to confirm the ear infection, a cardiology appointment for Matt, and we tried to do an endocrinology appointment for two of our kids…but, for the first time (which actually might be impressive, given the number of appointments we have? or maybe it’s still just depressing) I had the day wrong, and they told us our appointment is actually tomorrow. Sigh. Tonight I’ll meet with another adoptive mom to talk some adoption stuff, and tomorrow we’ll do the actual endocrinology appointment and hit a physical therapy appointment. It’s all stuff that needs to be done…but it’s not exactly Disneyworld šŸ˜‰

I am thankful that we live in an era in which medical care is readily available. I’m thankful for our high quality health insurance that allows us to pursue that care without worry. It has not escaped my notice that not everyone has that right. My child who woke up with an ear infection doesn’t have to suffer longer than necessary. And since we need to take care of all of these specialist appointments, it is so nice to be able to do it during a week when Matt is around. This is part of what life with a medically complex child and others affected by various medical issues is all about. We knock out the appointments, do some school around them all, and try to get in some bits of family fun, as well <3

I hope your spring break is more exciting than ours – but also that if you are a family who has weeks like this, filled with a never-ending stream of appointments, that you can see the grace in the ability to do that, too.

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 theĀ 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 umbrellaĀ 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, butĀ 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.