gi checkup

We had a routine checkup with the GI specialist on Friday. Iris has weird digestive issues due to the ACTA2 diagnosis, but they've been even weirder since August. I was explaining the details of it all to the doctor during our appointment and Iris got very embarrassed and hid her face in my lap. She's shown her ability to be embarrassed since she was a very young toddler, but this is one of the first times I've noticed her being embarrassed when I am talking about her health problems with someone.

I imagine most kids don't want their moms talking about their pooping to strangers, even 2.5 year olds. Generally, though, Evan and I do our best not to talk about her medical issues within her earshot but it's very difficult. We aren't trying to keep things a secret from her, but she's just not old enough for us to try to explain it all to her so it's better to shield her from what we can.

We know from her past visits that she has a small gallstone and that there's not much we can do for that unless we want to get her gallbladder removed or start her on another lifetime medication. We've opted to do nothing since it's small. We also know that she does not have malrotation, which is something that other ACTA2 kids have had.

twenty-three months

Iris has outgrown the onesie that I have been using for her month-by-month photos. I blame my tardiness in posting on the loss of that onesie. (It's not actually lost. It's just in our "too small" pile, now). I'm now preparing to start counting Iris's age in years rather than months. That'll take some getting used to. 

Wearing her Easter outfit from Nonna & Papa

Just making a silly face

My mom has been visiting for the month and she has taught Iris the story of the Three Little Pigs. So Iris loves to say now, "Once upon a time, three little pigs..." I've done a bad job of getting photos of the two of them together but they sure do have fun and Iris wears my mom out. She has tons of energy.

I've recently come around to the idea that maybe Evan and I haven't been giving Iris's diagnosis its full weight. We were talking to someone recently and explaining the whole situation with Iris. We are able now to glide over the details pretty easily: there is definitely a second heart surgery in our future, possibly another medication to add if a valve needs to be replaced; she may have brain surgery to help increase blood flow and possibly surgery on her intestines if they find that she does indeed have malrotation. I manage six specialists and have multiple appointments with each of them every year, Iris is on three daily medications (not including the oxygen when she sleeps). And her longevity is not at all a sure bet. Kind of the opposite, actually.

To share all of this information at once gave me some perspective: it's a lot to deal with. Perhaps we haven't been fully acknowledging exactly how big of a deal Iris's health problems are. We have acknowledged it in a sense: we can talk about it freely without being brought to tears anymore. I spend a lot of time thinking about how we'll shepherd Iris though this part of her life without making it her entire life. And we have a growing list of books to read to help on all related aspects.

But I'm not at all sure that we've allowed our lives to catch up with the reality of how stressful the diagnosis is. Neither of us has really taken much off of our plates to make space for the added work of caring for a daughter with special medical needs and an extremely rare genetic diagnosis. Evan is working hard, as always, and I'm technically working full-time and working on my dissertation. 

I have been able to come up with some very creative work arrangements thanks to my extremely accommodating supervisor. But it also seems like I should either figure out how to reincorporate my dissertation into my life or just decide to let it go. And, of course, I want to spend time with Iris while I can.

We are very excited about Spring. Here's some fun we've been having recently:

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.