the new year

In preparing to write my annual "welcome new year" post I re-read my posts from the past two years (here and here). I hope it comes as no surprise to anyone else that some of what I wrote turned out to be wrong.

It's benign stuff, for example, at the end of 2014, Iris wasn't sleeping through the night as I thought. Turns out that Evan had been staying up late to work and had been giving her a bottle around 9:30pm every evening and that would get her to 4:00am. Now, however, I am fully correct in saying that Iris IS staying in bed all night long (even if she's not asleep the whole time). We are bribing her, to be perfectly honest. She gets a fruit leather every morning if she stays in her bed all night long.

The "I stayed in my bed all night long" prize. Grape is her favorite.

As she gets older, I'm sure I'll come to regret some of the bribes and other methods I've used to elicit good behavior, but for now the sleep is too sweet to sacrifice (says the lady who's about to give birth any day). Her sleep patterns have been totally weird this year and was sometimes staying up until almost 9:00pm, which was awful. We had a sleep study done at the beginning of December to find out whether there was any physical reason that she wasn't sleeping well. I don't recommend the sleep study to anyone.

They found that she has very mild obstructive sleep apnea. It is so mild that Evan and I decided not to follow up with anyone about it; my perspective on her sleep has improved now that I'm getting more sleep.

Another milestone we reached with Iris is that she is now only wearing big-girl undies. I hesitate to say that she is potty trained. We're not in a rush and I want her to keep tabs on her own bodily urges. She doesn't stay as hydrated as I'd like, particularly since it's so important for her medical condition. But she does use the potty when she needs to and otherwise fights us every time we suggest that she go. 

The spunk never stops.

To be fair to her, she is much better about using the potty at school where she indulges in peer pressure to conform. She started school at Temple Sinai preschool two days per week in April and moved to three days in September. Her teacher is a treasure to us and makes Iris feel loved and secure while she's there.

Watching Iris's social development has been a total joy this year. Her teacher tells us that she is very empathetic with the other kids and tries to make new kids feel welcome and comfortable. When she is playing with older kids she wants to do everything identically to them. She'll repeat every action and every word they say. Part of me hates this, of course, since it can produce such bad results in adolescence. But for now I think it makes total sense and she has learned so much (some good and some bad) from other children. 

At the end of 2014 we had just gotten Iris's ACTA2 r179c genetic diagnosis. We met with the researcher who discovered the mutation on New Year's Eve of 2014 and had a whole new (and pretty unwelcome) world open up to us. I think it took us a good seven months to adapt to it all. I amassed a set of reading material about death and grief, some of which remains unread. Somewhere along the way I got my fill.

I had made up my mind to quit my job and to quit my dissertation and focus on trying to advance research on this genetic mutation and the associated risk factors (i.e. pediatric stroke and stenosis of the arteries). And then at some point I realized that choosing that path would be too stressful and that I couldn't let this diagnosis govern our whole lives.

It's probably not a coincidence that Evan and I joined a church. Evan had been going with me to First Universalist of Denver prior to our receiving the diagnosis and he had even suggested we join before then, but it took us until July to take the plunge. Evan probably hates that I'm writing about this as he hasn't fully accepted that he is what one might call a "church-goer" now, even if it is a church where people with atheist/humanist belief structures are welcome and attend regularly. It's an easier adjustment for me since church has always been a part of my life and my identity and I know that weekly attendance makes me a better person.

The latter part of 2015 went by in a flash. We took trips to New Mexico (twice) and to California to visit family and we welcomed Evan's friend and his family to live with us while they adjusted to life in Colorado. Evan got to climb his first 14rs (mountains that are over 14,000 feet in elevation) and I was jealous that I had to sit at home and be pregnant. And then we bought a house and moved!

As we begin 2016 I haven't fully grasped the huge change that is about to come once this baby arrives. I have 12 weeks of parental leave from my job that I'll chop up into smaller bits to last until the end of May. After that I'll return at a slightly reduced schedule. We'll be doing a lot of improvising, I am sure.

One goal we (I) have for this year is to get off the internet and our phones a bit more. I'm not sure how drastic this will be, but I'm hoping to replace screen time with family sing-alongs.  

glasses

Iris got glasses. We took her to her regular ophthalmologist appointment and he decided it was time to give her glasses. He has told us in the past that she was very far-sighted (like all kids) and that as you get older you become more near-sighted. 

He also said that he wouldn't have decided to give her glasses now but her left eye is doing more work than the right eye since it's less far-sighted, and in fact, he would rather see her more far-sighted in her left eye since we know that both eyes will become more near-sighted in the future (since that's what happens with all kids). He also emphasized that the far-sightedness in the right eye is very slight. 

While I did know that many of the other ACTA2 r179 kids have glasses, I hadn't realized until later that almost all are far-sighted, and many need bifocals. So I guess it would be a safe bet to think that Iris might need bifocals in the future.

It's hard to get too upset about her needing glasses, though, considering that we originally thought she had aniridia, a condition far more vision-threatening. And she's so darn cute in these glasses. I took her to pick out her frames and she decided she wanted blue ones since blue is her favorite color. (I'm not sure how long blue will hold on to that title.)

courage

I've mentioned in passing that Evan and I have amassed a set of books to read as a way to process where our lives are and where they are going. Maybe I'm the one who has mostly amassed the reading list. Included on this list is Being Mortal: Medicine and What Matters in the End by Atul Gawande. One of the final chapters is titled "Courage."

He begins the chapter by telling of Plato's dialogue Laches, which deals with the subject of courage. What is courage? I can't speak for Gawande's interpretation of the text, but he concludes with observations that particularly resonate with our experience: 

"Courage is strength in the face of knowledge of what is to be feared or hoped. Wisdom is prudent strength.

"At least two kinds of courage are required in aging and sickness. The first is the courage to confront the reality of mortality - the courage to seek out the truth of what is to be feared and what is to be hoped....But even more daunting is the second kind of courage--the courage to act on the truth we find. The problem is that the wise course is so frequently unclear. For a long while, I thought that this was simply because of uncertainty. When it is hard to know what will happen it is hard to know what to do. But the challenge, I've come to see, is more fundamental than that. One has to decide whether one's fears or one's hopes are what should matter most." (p. 232). 

To take this further, one has to decide how to live given the likelihood of a variety of outcomes. The problem with dealing with a rare diagnosis is that medical professionals don't have much to tell us about what to expect. There aren't enough cases to draw statistical conclusions and so we are all running on case studies and personal experiences of other families. So in other words, how do we figure out how likely it is that our fears will come to pass? We have to go on gut feeling and the stories of the roughly 20 other families with the ACTA2 r179 diagnosis. 

I think that we've embodied the first type of courage in facing Iris's diagnosis. We have sought the truth of what is likely to happen and haven't shied from it. The second type of courage... the courage to act is more difficult. What do we do with the knowledge we've gained? This is where I'm kind of stuck.

neurology, round 2

Our second meeting with the neurologist was less overwhelming that the first, mostly because we knew more or less what to expect to hear. That's not entirely accurate - I didn't know whether to expect to hear that the white matter lesions had gotten worse. I did my best to prepare to hear that yes, they had gotten worse, though.

The news is basically good: nothing has changed. Iris still has white matter lesions, but the damage hasn't progressed. And the vessels all appear about the same size -- they haven't narrowed. Patients with the ACTA2.r179 mutation have dilated internal carotid arteries and narrower middle cerebral arteries. Her middle cerebral arteries do not look paricularly narrow at this point.

One piece of information I had forgotten, though has been mentioned in the past by various specialists, is that the ACTA2.r179 mutation results in the overproduction of smooth muscle cells. So, over time, the space for blood to flow narrows as the vessel walls become thicker. And at that point the neurologist would tell us that a major stroke is imminent and that it's time for surgical intervention.

Barring any TIA's or other neurological events, I'm hoping to push the next MRI to a year out. It seems that the other ACTA2.r179 folks have MRIs about every 12-24 months...not more frequently than that unless there are major indicators requiring it.

So, overall, good. (Amazing how your bar of what qualifies as "good" changes. We adapt.)

next steps

We talked to Dr. Milewicz and a co-researcher, Ellen Regalado on New Year's Eve. They are at UT Houston and work with the John Ritter Research Program in Aortic and Vascular Diseases. Dr. Milewicz is the one who discovered the ACTA2 mutation and they have 20 individuals in their study with the R179 mutation. 

We are going to send them a skin sample from Iris's arm, which they will use to make into stem cells and then into smooth muscle cells. They need her cells in particular because her mutation is R179C instead of R179H or R179L. Since her mutation produces cysteine it creates more of the protein than with the H or the L version. (I don't understand this very well, I'm just quoting what they said to us.)

Iris was supposed to have the MRI/MRA/ultrasound on the 12th of January and then we were to meet with the neurologist on January 13 but with there has been a tremendous scheduling problem at the hospital and they've had to move the MRI/MRA/ultrasound back to January 23. I spent the bulk of yesterday afternoon on the phone trying to deal with the scheduling and finally lost my cool towards the end of the day. 

The highlight of the day was getting a gift in the campus mail from a mystery person at work who sent me a glass flying pig. 

Penelope the Pigge

With her head-strong determination and good fortune,

Penelope is the perfect depiction of overcoming impossible odds!

Her personal wager against anyone using the phrase 

"When pigs fly!" has brought much abundance and prosperity indeed!

processing

In high school I played volleyball. Before big games our coach would have us visualize the best possible game we could play. She had us imagine the perfect pass, set, hit. She had us visualize the win. This exercise is helpful now as we process the ACTA2 diagnosis.

Evan and I talked the other night about how we were both processing this new life we've been inducted into. He said he doesn't know how or even if he is processing it. He thinks about it, we talk about it, but processing? Not sure.

For my part, processing involves a creative imagination and visualization of the possible future realities we'll face: waking up to find Iris has had a stroke; getting the news that her intestines are malrotated or that she has gallstones; waiting while she has any number of surgeries on any number of body parts; talking to her about how she can decide for herself what will make her life meaningful; walking, lots of walking outdoors. The more we imagine, the more prepared we will be to respond to the worst of it without panic. Evan liked this idea and said it made him feel better about what he worried might have been just zoning out. 

Processing also involves research and finding others like Iris. I've started doing a literature review on all ACTA2 r179 articles. I've joined a Facebook group specifically for those with her mutation. Evan and I both have considered getting tattoos in honor of Iris. This was something we came to independently.

I'm equally concerned with Iris's physical well-being as I am with her (and our) emotional and spiritual well-being. I'm sorry to admit that we spend far too much time talking about medical issues in front of her. I'd much rather shield her from those conversations at this point and instead focus on fun. Evan has said this in passing a few times -- usually referring to our need for a date night -- that we need to have more fun.

We (or I) have amassed a slew of items to help us figure out how to forge ahead. One of those is a TED talk by Andrew Solomon, who talks about how the worst moments of our lives help make us who we are. His talk is beautifully inspired.

the unifying diagnosis

One of our cardiologists called me on Monday to let me know that results of the most recent round of genetic testing had come in. He said he wanted us to come in to meet with them later in the week (Thursday) and he gave me just a few main details: 

Iris has tested positive for a genetic mutation on the ACTA2 gene on chromosome 10. Because of the mutation she is at risk of stroke and cebrovascular abnormalities, so we should see a neurologist. Gastrointestinal problems are also related to this mutation, so they want to do an ultrasound to check for malrotation of the intestines. He also mentioned that this is very likely a "de novo" mutation, meaning that Evan and I probably don't have it. And with that, we arranged to meet on Thursday. 

I took Thursday off of work and Evan worked from home. I had already had my own echocardiogram scheduled for that morning, so it was easy to pile all the medical stuff into a single day. Evan has been very busy at work, so he was (and is) very sleep deprived. On the ride to the hospital we were able to spend a few minutes checking in with each other about what is happening and what it all means. 

I have been trying to bone up on my 8th grade cell biology and genetics knowledge before the meeting, but the cardiologists were great about avoiding complicated medical terms. We really like her cardiology team, and especially like the new cardiologist/geneticist who is involved in her care. 

Much of what we discussed at the meeting was what I expected to hear. Some of it was unexpected, though. 

• Iris has a spelling mistake known as ACTA2 r179c* and it puts her at particularly high risk of having a stroke. Of all the other cases known, they are "de novo" events, meaning that the parents of the patients did not have the same spelling mistake. The mutation is dominant, so were we to have it, we would also exhibit the same prominent symptoms.  
• This mutation affects connective tissues--specifically smooth muscle cells--in the body and basically explains all of the symptoms we've observed and also tells us that there is a potential for having gastrointestinal problems, strokes, aneurysms, and dissections. 
• The mutation causes a narrowing of the blood vessels in other parts of the body, aside from the aorta, where they commonly see dilation. 
• There is a single codon (set of three nucleobases,e.g. ACG) in which she has a single "mis-spelling." It isn't a deletion, but rather instead of having an "A" or "C", a different nucleobase appears. Dr. Chatfield couldn't remember off-hand what the substitution was, but she's going to get me the full report. The result of the mis-spelling is that an amino acid called arginine is not getting produced and instead cysteine. In other patients with this mutation, they are producing histidine, though, the doctor said the effect is the same. 
• There isn't enough information to be able to predict longevity. The doctors also reminded us that -- as we continue to do our own research -- it's the really severe cases that are discovered first. In theory there could be people out there with this mutation who haven't been diagnosed with this particular defect. However, the ones we know about are all young. Our Google searches have since shown us that the oldest known person with the r179h mutation was 31 and she died a month ago.  

So, we now begin to incorporate this into our lives. Iris shouldn't be lifting heavy weights and should never become a weight lifter. She may need to begin taking aspirin after we get the MRI results. We should encourage joy in her life and ours. 

This is all very scary news...and kind of the worst of what we could have hoped for. We had a good personal conversation with the doctors at the end of the meeting. They asked us how we were handling everything and I mentioned the idea that Evan and I talk about frequently, which is, what is the difference between a meaningful life and a long life? Or, how can we make a short life meaningful? There's a difference, of course, between talking about it and doing something about it. It's hard to know what will make a toddler's life more meaningful since she can't tell us herself...so we have to project our own ideas on to her. And play with lots of bears. 

We are probably in some stage of shock after this news, especially because she seems to be doing so well. Our everyday experience of her doesn't square with this tragic news. On the car ride home we began to process it, barely. At one point Evan said, "So this is like the universe daring us to give up. This is the universe puffing out its chest at us and saying, 'What? Whatcha gonna do now, huh?'" We laughed and then cried and continued with that train of thought. We have both been incredibly fortunate (Evan's word: lucky) for more than three decades and in spite of the universe's taunt, we remain so. Our workplaces are incredibly sensitive to our situation, and we have the time and ability to think hard about the best possible course of action. Feeling particularly emboldened, Evan even said at one point, "Well, we have to have another kid, right?"




*Note: I had originally written that the mutation was r179h. That's incorrect, since the mutation produces cysteine instead of histidine.