Dispatches from my Dining Room (No 5): Day 76: Staying Home in the Midst of Re-Opening

It is now day 76 of our staying home whenever possible. America is strange right now.

There is no vaccine for the coronavirus. While there are a few treatments that may offer glimmers of hope, nothing has proven to be dramatically efficacious.

And yet Americans are tired of staying home. Some believe the coronavirus is not as serious as people are making it out to be. Others are annoyed that they can no longer be served as usual – there were protests in my rich, white hometown (just miles from Milwaukee, in which the Black community is suffering and dying at alarming rates). Some are convinced that they personally are young and healthy and are likely to survive, so they would prefer to risk exposure in order to return to business as usual. Whatever the reasons, many people want to be out and about and would like to return to their lives as they existed pre-pandemic.

I really resonate with this tweet –

Wishing for something doesn’t make it so – but we seem to be pretending that it can.

For our governmental leaders, the move to re-open the country seems to be primarily politically motivated. People are filing for unemployment at unprecedented rates. Many do not have savings to sustain them for long periods without a paycheck. People and businesses need relief. The solution presented by our politicians is that the country should begin to open again. However, as businesses re-open their doors and call employees back to work, even those who do not feel safe returning are rendered ineligible for unemployment benefits. It is a terrible situation to face. I wish that, in America, we were willing to look for economic solutions to economic problems – instead of forcing people back to work in situations that may cost them their lives in the name of preserving the economy (and/or politicians’ political futures).

Our family is incredibly fortunate that, at least for now, Matt and I are both able to work from home. We don’t have to go anywhere on a daily basis.

Even we, though, have not been able to maintain our policy of zero tolerance for contact with the outside world.

Matt, who suffers from interstitial lung disease, was having lower oxygen levels than his pulmonologist wanted to see, so he needed to go in for additional testing and an appointment. He actually had to be tested for the coronavirus (video here) before he could do any of that because of the high risk nature of all of the patients in the pulmonology clinic and the risk of spreading the virus during the types of testing they do. I’m thankful he was able to go, though, as he is now feeling better, and he now has access to supplemental oxygen when he needs it.

Additionally, FangFang receives quarterly Pamidronate infusions to strengthen her bones, and she was due for another one this month. These aren’t absolutely life sustaining, but they greatly improve her quality of life. They also reduce the risk of serious fractures, any of which could necessitate an emergency trip to Omaha for surgery, which would be a much higher risk situation than a day at the hospital for an infusion. I consulted with her endocrinologist and decided to go ahead with the infusion but moved it up to May 7 (as soon as possible after Missouri’s re-opening date of May 4, to minimize the likelihood of widespread community transmission), and she and I spent the day at the hospital. The hospital has policies in place to minimize risk (only one parent and no siblings allowed to come with her, no waiting in the waiting room, no playrooms, no wagon rides, placing us in a private room with a private bathroom, and everyone was asked about symptoms and had temperatures taken upon arrival, and we were required to wear masks). We also brought all of our own food, so we would not need to interact with any food service personnel.

And then, in an unwelcome development, when we came out to the parking lot, we saw that one of our tires was completely flat. Matt had to come put on our spare tire so we could drive home, and the next day he took the tire to get patched. As low as we would like our exposure to be, we need our van to be drive-able.

I’ve been missing the ability to interact with friends and family, and while it is 100% worth it to me to keep our family safe, I also wanted to take advantage of the opportunity to go see Courtney while her risk of exposure was minimal. For a couple weeks, her workplace was closed to the public, and she wasn’t doing appointments or lessons at all, employees were wearing masks and keeping their distance from one another, and she stayed out of stores and public places and didn’t do any of her supplemental jobs. After two weeks of that had passed, I got to go visit her for a weekend, which was a nice time of relaxing and fun.

We continue to order our groceries to be delivered (and try to tip well for those who do that work and assume the risk that we are avoiding). We order everything we can online, whether books, household supplies, or clothing. This past weekend I made my best guess at shoe sizes for the older girls – we’ll see whether they fit when they arrive! Matt had to go to Menards one day to get some supplies that we couldn’t easily order online to fix our leaking freezer, and we took advantage of that opportunity to have him pick up some paint and supplies so we could paint our hallway – ready to tackle some quarantine home improvement projects!

We’re still trying to stay home as much as we can, and overall, life feels pretty peaceful. In addition to our regular school work, there is time for board games, playing outside, and reading books for fun.

We have acknowledged that, two months in, we need to use wisdom, not absolute zero, as our guide for interactions outside of our home. Life is not black and white. We have very high risk family members. We will not be taking any significant risks. But we do have weigh the different risks involved in the various shades of gray and make the best decisions we can for our family. We can’t allow our health to deteriorate or our van to become un-usable or our freezer to leak perpetually, so we take those risks. But that doesn’t mean we have to throw caution to the wind and engage in ridiculous behavior. Some of the most dramatic examples of people flouting expert recommendations are coming out of Missouri this past weekend. It’s hard to have standards that we know others aren’t following.

I am mourning. Our neighborhood pool is opening for the summer, and while others enjoy that lovely activity, we’ll be at home, trying to find other ways to cope with the humid, 90-degree weather of Missouri summers. Our two almost-swimmers will not be mastering that skill this season. As Miranda’s swim team resumes practices again, she’ll be staying home.

We see pictures of friends out at parks or gathering together. We miss our people, too. We miss feeling like we belong to a community (an experience obviously exacerbated by having resigned our membership in our long-time church just months prior to a pandemic). We see others returning to life, more or less as normal.

Psychologically, it’s a strange experience. It feels almost like collective gaslighting. So many others are acting like there is no problem at all – like everything is normal. I’ve had moments of beginning to wonder whether I’m the one who has the truly skewed perspective. Am I over-reacting? Are the lengths to which I am going to keep my family safe (and protect anyone with whom we would need to come into contact) absolutely ridiculous?

And then I look at the statistics. And I read the stories. And I remember – the risk is DEATH. And for several members of my family, that risk is high. And we have no way of knowing the risk factors of anyone with whom we may need to come into contact. I’ll trade my summer at the pool to give us the best chance to preserve their lives. Everyone has to make their own choices. But as for me and my house, we will be staying home.

Coronavirus 2020: Why We Are Staying Home – And Why I’d Encourage You to Stay Home, Too, If You Can

Like most of the rest of the world, I have been following the news of the coronavirus closely for the last couple months. Having two daughters from China, I was particularly struck by reports of this new virus killing people and shutting down cities in that country that will always have a piece of my heart.

And then it spread – and now it is here in the States. And each of us is faced with the question – what should we do now? Even if we could trust the leaders of our country (and the evidence is clear that we cannot), each of us is responsible for ourselves, and, in a broader sense, we are all bound together as a society, and we share responsibility for what happens to us all. We are all responsible for making wise choices, but when there is no clear, competent leadership, we have an even greater individual responsibility.

Initial data indicates that without intervention, each person infected with the coronavirus transmits it to somewhere between 2 and 3 other people. The World Health Organization (WHO) states that its incubation period is probably between 1 and 14 days – meaning that people can transmit the virus to others for up to two weeks before they develop symptoms themselves. And they also state that, “older persons and persons with pre-existing medical conditions (such as high blood pressure, heart disease, lung disease, cancer or diabetes)  appear to develop serious illness more often than others.”

Its mortality rate, right now, seems to be around 3-4%. But, beyond that, we can see significant issues. For instance, “Around 20% of cases require hospitalization, 5% of cases require the Intensive Care Unit (ICU), and around 2.5% require very intensive help, with items such as ventilators or ECMO (extra-corporeal oxygenation).” Our hospital systems in America simply do not have the capacity to provide ICU care to the numbers of people who may need it. The same article states, “A few years ago, the US had a total of 250 ECMO machines…So if you suddenly have 100,000 people infected…Around 20,000 will require hospitalization, 5,000 will need the ICU, and 1,000 will need machines that we don’t have enough of today. And that’s just with 100,000 cases.”

As of yesterday, there were about 3,500 people who tested positive for the coronavirus in the States. However, one of our earliest failures in fighting this disease has been in testing. A Johns Hopkins physician was quoted last week (back when the official tally of cases was 1,600) as saying, “Don’t believe the numbers when you see, even on our Johns Hopkins website, that 1,600 Americans have the virus…No, that means 1,600 got the test, tested positive. There are probably 25 to 50 people who have the virus for every one person who is confirmed…I think we have between 50,000 and half a million cases right now walking around in the United States.” This article explains in great detail how we can estimate case numbers and project into the future.

There are no confirmed cases of the coronavirus in the city or county in which we live. But what does that mean? It certainly does not mean there are no cases. It means that there may be cases…but we don’t know it yet. And quite probably, those people who have the virus don’t know it yet either.

So what do we do?

I believe we need to start acting like there are cases here. And, as many are advocating, we need to do everything we can to flatten the curve. If everyone gets sick at once, our healthcare system (our hospitals, our ICUs, our ventilators, our ECMO machines, our doctors, our nurses) will be overwhelmed. This is already happening in Italy. They are having to make decisions about who to treat – who will live and who will likely die. No one wants that to happen here.

And there is something each and every one of us can do to work to prevent it. This brief Washington Post article with simulations does an amazing job explaining and showing why social distancing works. Please check it out. Look at what happens when everyone moves around normally. Look what happens when only one in four people continue to move around. And then look to see what the results are with only one in eight people moving around. The difference is dramatic.

Some people cannot stay home. Doctors and nurses, of course, cannot. My 66-year-old mother who is a Wisconsin county’s Director of Emergency Management cannot. We all need to eat, and those who work at grocery stores will continue to work. Many people have no savings and will be required by their employers to continue to come in to work. However, there are a great many of us who have tremendous privilege, who are able to stay at home. It would be impossible to get any of our cities to a point where everyone stays home 100% of the time – but can we get to a point where only one in eight of us are moving around regularly, or even one in four? Can we slow the spread of the coronavirus enough that we will truly flatten the curve, so that our healthcare systems and our doctors and nurses and other hospital staff members are not pushed beyond their capacities?

I hope so. Lives depend on it. You may be young and healthy, and likely you would be fine, even if you contract the virus (though there are no guarantees). But that is not true for everyone. The mortality rate for those over 80 is around 14%. China’s CDC indicates that the mortality rate, “was 10.5% for those with cardiovascular disease, 7.3% for those with diabetes, 6.3% for people with chronic respiratory diseases such as COPD, 6.0% for people with hypertension, and 5.6% for those with cancer.”

Within my little family, risks are high. I have exercise-induced asthma, which may (but also may not) be an additional risk factor. But for two members out of our family of six, their underlying medical conditions could make the coronavirus extremely dangerous for them. While we often think of osteogenesis imperfecta as primarily related to bones, it is actually a collagen disorder and therefore affects every system of the body. The OI Foundation reports that, “Respiratory complications are a leading cause of death for children and adults who have OI.” The coronavirus could be devastating for FangFang. Additionally and probably even more concerning, last year Matt was diagnosed with interstitial lung disease. His lung function is already so compromised that the prospect of him also facing a virus that attacks the lungs is terrifying. Most people who contract the coronavirus will be fine; would Matt and FangFang? It is less clear.

So what are we doing?

We are staying home. We are practicing extreme social distancing. We are canceling everything. I went grocery shopping on Saturday morning, and that will be our last grocery shopping trip for weeks, at minimum. We are not running errands. Mizzou has transitioned all in-person courses to be taught online, so Matt is able to teach from home. If he has to go in to campus for meetings or any other reason, he will, but he will do all he can from home. We are not attending church worship gatherings. Our kids are staying home from their homeschool enrichment group. Swim practice has been canceled through the end of March. We will not be doing horseback riding lessons. We will not go to the library or to the gym. We have canceled a spring break trip Matt was scheduled to take – unnecessary travel with thousands of other people through airports and on airplanes seems unwise at this time. We have rescheduled all non-urgent medical appointments. We are not visiting friends, and we are canceling visits from those who had planned to come to our home.

Would you consider doing the same? Will you help to flatten the curve? Will you do your part in reducing the risk to vulnerable populations, like the elderly – and like Matt and FangFang? Will you do what you can to protect our health care system and medical professionals? Some people cannot stay home – but if you can, would you please do so?

Maybe it will seem like an overreaction. But what if it doesn’t? What if we are facing an unprecedented pandemic? What if you could save lives with your decisions, by simply staying at home with your family? Would you do that?

Omaha 2018

Did you catch that title? “Omaha 2018.” No subtitle. In contrast to our four trips to Omaha in 2017, my hope has been that this would be our one 2018 Omaha excursion – but I knew that would largely be determined by what we found out during this trip.

About a week and a half ago, we loaded up our minivan and packed up our family of six and drove out to Omaha, where we were overdue for FangFang’s annual OI clinic visit. World-class practitioners in multiple specialties related to osteogenesis imperfecta (OI) work together in Omaha to provide a clinic experience that, to my knowledge, is unmatched.

We arrived on Tuesday night, and FangFang and I headed to the hospital on Wednesday for the testing that would give us valuable information about her growth, her bones, and her body in general. This year was a light year in that all we needed to do was a dexa scan (which measures bone density) and a collection of x-rays (that check the status of the rods she currently has placed in both femurs, both tibias, and her left humerus; show us the status of her spine; and generally look at how her bones are growing and whether there have been significant effects from any recent fractures).

The highlight of the day for us was seeing FangFang’s former foster sister, Xiao, whom she knew in China before we ever met her. Our families have stayed in touch since the girls have come home, and we hope to continue to be able to schedule their clinic visits together and maintain this relationship for them. Our children from China have so little from their pasts – these connections that we can help them keep are so special. And in each other, they each have a friend who truly understands, who is living life as a Chinese adoptee with OI. Those connections will likely be invaluable to them as they grow and begin to negotiate the world with increasing independence.

We’d actually hoped the reunion would be even larger. There is a third sweetheart, Gabby, who lived at the same foster home as FangFang and Xiao in China, and she recently came home and was scheduled for her first clinic appointment at the same time as us – but unfortunately, her older sister (also from China, also with OI) broke her femur the week before clinic, and their family was unable to travel ☹ That was such a bummer – we’d been so looking forward to seeing all of them! There are a few other families with kiddos from China who have OI with whom we hope to continue to maintain connections, as well. We’re so thankful for these sweet moments between Xiao and FangFang – even at 3 and 4, they delighted in seeing another child like them, using a wheelchair, having scars from rodding surgeries, occasionally sporting a splint – we’re going to do all we can to continue to facilitate these connections for our kiddos!

While FangFang and I did that testing, Matt took our other kids to a park, and once we were done, they came back for us and we all spent the rest of the afternoon playing at the park.

In an attempt at frugality, I’d booked all six of us in a standard hotel room for our time in Omaha. While it was certainly frugal, it was also rather miserable. We were all on top of each other all the time, the kids had no room to run around or play, and it was just generally an unpleasant situation. We ended up spending most of the waking hours during which we were at the hotel letting the kids watch tv, because it was our best strategy to keep the peace. And now we know. We can certainly handle standard hotel rooms for a one night stop or something of that sort, but for any extended stay, it is unwise!

We debated how to handle Thursday morning clinic – whether all of us should go, so Matt and I could both be present for all of these doctor meetings or whether it would be better for him to take the other kids to do something more entertaining, and FangFang and I could focus, undistracted, on our conversations. It would have been great to have both of us there for all of our conversations, but ultimately, we realized that as the researcher and doctor-appointment-attender parent, I was probably going to be negotiating 95% of those interactions, anyway, while Matt parented our kids, and it would probably be easier for him to parent them somewhere other than a hospital room 😉

FangFang and I were at the hospital by 7:45, and we got to chat a bit more with Xiao and her family before clinic started.

After a nurse got FangFang’s height and weight, we were taken to a room that would be our base of operations for the rest of the morning while doctors and other providers rotated around to talk with us about their individual areas of expertise as they related to FangFang.

First up, we saw Dr. Esposito and Dr. Wallace, the orthopedic surgeons. I knew that their assessment of how her bones and the rods she’s had inserted into many of them (both femurs, both tibias, and her right humerus) would largely determine whether we needed to make a planned return trip to Omaha any time this year – and, thankfully, they don’t believe that will be necessary! Of course, we may end up back there anyway – a significant fracture requiring surgery would mean a drive to Omaha for Dr. Esposito and Dr. Wallace to operate – but we at least don’t need to plan anything now! Her left femur rod is the one they have the most concern about. It was the earliest placed, and the surgery was done in China, and it will likely be the first to require revision, but they said that as long as she isn’t experiencing pain or limping, we should leave it alone. We looked at her spine, and her scoliosis is not particularly severe, and the wedging we can see on x-rays has improved in the last year, largely due to the Pamidronate treatments she receives. Essentially, everything looks pretty good from an orthopedic perspective!

We also met with a researcher for a 5-year longitudinal study being done out of Omaha, in conjunction with other research sites, collecting data about individuals with OI to use in research studies, and we’ll have FangFang start participating next year. There is not a great deal of research available related to OI, and we want to do anything we can to be part of developing that, hoping for more and better treatments in the future.

The endocrinology team was very happy with the improvements in FangFang’s bone density shown by the Dexa scan. It’s actually a bit confusing, knowing what the level of improvement was – there is a discrepancy between what the 2017 report shows as her 2017 measurements and what the 2018 report shows as her 2017 measurements, and no one was quite sure why. But, regardless, her 2018 numbers show either a 15% or a 30-40% increase over her 2017 numbers, so we’ll continue with her same level of Pamidronate treatment.

We also saw a dentist and a dietician. The dentist continues to see no OI-related issues with FangFang’s teeth, which is great news. And the dietician talked with me about our diet and what FangFang eats and what her growth trajectory looks like, and she was happy with all that we’re doing, so no changes needed there.

The physical therapist was also very pleased with what FangFang is doing and what we’re working on with our local physical therapist, which was great news! The occupational therapist recommended an OT evaluation and maybe 4-6 sessions of OT at home to work on underlying core strength and skills – grip strength, endurance, screwing and unscrewing. I’m not thrilled to add likely another appointment to our weekly routines, but it’s definitely a good idea to address these things as early as possible, so we’ll see what we can do!

Overall I was very encouraged by the clinic visit, knowing that the Pamidronate treatments are having the desired effect, that her bone density is increasing, and that we likely don’t need to return to Omaha until next year for clinic. That’s pretty much the best report we could hope for!

After clinic, Matt took the younger 3 kids back out to play at a park while Miranda and I stayed back at the hotel room. She did some math and some art while I put in a couple hours of work and then napped. Another consequence of that whole six people in one hotel room arrangement was that no one was getting great sleep!

Friday was a really good day. We’d planned to meet Xiao’s family at the zoo, just to hang out and have fun, and that we did! Another family in town for OI clinic joined us, as well, which was great! They’d traveled all the way from the Bahamas for clinic, making our 5-hour drive look like nothing! The kids loved running around and the zoo, and we’d heard great things about the it, and it did not disappoint.

It was great to have this time to consult with these amazing OI-care experts and so good to connect with other families with kiddos who have OI. We were so thankful for our time in Omaha!

Access Matters

I’m sorry to have to admit that, for most of my life, I was pretty oblivious to issues of accessibility and disability rights. It took exploring adoption through a special needs program to begin to open my eyes, and it took adopting a child who actually has a medical need that is considered a real disability for me to begin to truly see. And I’m still learning – but I see more than I used to see.

Everywhere we go, everywhere we look, there are barriers to access.

Do I want to go to a park? Do I want to take my kids to play at a playground? Do we want to go to church (did you know that churches are exempt from the ADA?)? Do I want to sign my children up for a group or activity? Do we want to hire a baby-sitter to watch our children? Do we want to take advantage of the childcare advertised as being provided in conjunction with an event?

Because one of the members of our family has a disability, none of those activities are ever straightforward for us. Every single one requires advance planning, maybe scouting out a location, maybe explaining our situation to whoever is in charge.

Even the language that we, as a society, use to talk about disability and access is often awkward. I cringe when I hear the phrase, “wheelchair bound.” Does this look like a child who is “bound” to and restricted by her wheelchair?

I’d argue not. FangFang’s wheelchair is an amazing tool that allows her greater access to the world around her than she would otherwise have. Without it, she would have almost no “social mobility” – the ability to move herself around in public places. At home, she is quite mobile – she can butt-scoot or crawl to get herself almost anywhere, including up and down stairs – but butt-scooting down the aisles of Target isn’t exactly within our social mores. It’s true I could put her in a stroller, but in that situation, I’m pushing her around, and she has no control over where she goes. At four, just like other four-year-olds, she wants to have some freedom to explore her world, and it’s entirely appropriate for her to have that. That is what her wheelchair offers for her.

FangFang knows there are things that other kids her age can do that she can’t. She doesn’t often communicate that it bothers her…but when we find ways to facilitate her participation and her independence, her excitement is palpable. She has been potty trained for months, but because she doesn’t walk independently, and she’s so tiny, she has always relied upon me to assist her in the bathroom, even as she has seen her younger brother use the bathroom on his own. This week she received a custom-made step-stool, a modified version of this one, that allows her to be almost entirely independent in the bathroom. She is beyond thrilled.

It’s true, providing for access is expensive. It’s almost never efficient. But don’t the lives of people with disabilities matter? They’re people, right? My daughter who doesn’t walk independently is still a person, still an image-bearer of the Living God, worthy of respect and dignity, right? And my friend’s daughter, who is deaf? And another friend’s son living with HIV? We, as a society, should not be setting up systems that perpetuate exclusion. None of us benefit from that situation. Right? Do you believe that with me?

I hope you do. But sometimes I wonder. Maybe other people don’t? If they did, would it be this hard?

It breaks my heart that I am going to have to, at some point, teach FangFang to advocate for herself in a world that, in so many ways, is not built for her. I am so thankful for the ways in which we as a country have grown in inclusion – for the ADA, for IDEA, and more. But we still have so far to go. And as hard as the mental back-and-forth is for me, the mother of a child with disabilities (I need more help – I literally cannot do X unless someone else helps me; but who am I to request additional help, beyond what everyone else gets, when I know people already have a lot on their plates; what should I do here?), I am committed to the fight, for my child and for those who come after her; would you like to join me? I don’t want them to have to fight so hard. And I wear my new shirt to remind myself of the future for which I’m fighting.

 

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.