christmas 2014

We had a small Christmas tree this year. Iris loved it, but her favorite thing to do was to throw the ornaments, so we had to keep her away from them.

Iris is almost as tall as our tree. 

Notice the Christmas bunny. 

Evan's parents came in for Christmas and in true Morgan fashion, they helped on home renovation. Our laundry room now has drywall and paint and a counter for folding and some shelving. I hope this helps with our laundry problem a bit -- it is a beautiful counter for folding clothes.

Christmas brought lots of snow, finally. Iris got to play in the snow, but she didn't love the cold. And she thought the slush on her boots was yucky.

On Christmas Eve, we took Iris to the children's service at the Unitarian church. She loved the spectacle, and especially loved the tree. She managed to stay tolerably quiet through most of the service, but at the end, finally, she had to go outside and run around.

Evan's dad brought his copy of The Night Before Christmas to read to Iris. It was fun to have Iris share in that tradition, although she wasn't ready to sit still through the whole thing.

Papa reads to Iris.

Reading on Christmas Eve and giving me a fake smile. 

We started to open presents on Christmas Eve but Iris was too tired to hack it so the adults opened their presents after bed time and Iris finished opening her presents on Christmas day. This year she was more interactive with actually opening her presents, though at one point she had to stop and check on her bunny light.

Opening presents with Daddy. 

The bunny night light. 

Evan's gifts had a hiking theme to them this year, in hopes that we would get outdoors much, much more in 2015. Iris took to the hiking backpack very well demonstrating the idea with her stuffed animals first. 

Christmas afternoon walk

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.

twenty months old

The last month has been mostly full of vomit. Iris is down almost a full pound but has lately been eating a lot. I have her on hemp milk now, and I think that will help a bit. I have also abandoned my vegetarian intentions for her and have been giving her (organic, allergy-friendly) chicken nuggets. Anything to get her to put on some weight in a non-dairy and non-egg and mostly non-soy way. It's not that she's allergic to those things, but they don't do good things for her belly. And eggs make her vomit.  

She had her RSV shot last Thursday and vomited that night. So the pediatrician and I agreed today that we would be creative in thinking about future RSV shots. She is supposed to have five over the course of five months. She's had two and I have no intention of letting her get another one in January. It's incredibly painful and traumatic for her to have to be held down and to get two big, huge shots in her legs. It makes regular vaccinations seem like a walk in the park. 

So we still haven't made it a full seven days without vomit since this whole thing started on November 14. I am hopeful that we'll get there this week... keep your fingers crossed. I started her on Losartan again this past weekend since it seems clear that the medication is not the thing that was causing the vomiting. She seems to be tolerating it well. 

Iris has started taking off her oxygen by herself in the morning after we put oil on the tape. Her face is red on both temples because of the tape and she hates to have us touch either temple. It definitely hurts her even though we try to be very gentle. This is a serious downside to having the oxygen off during the day but keeping it on for sleeping. 

Iris loves her morning smoothie.

Really loves it.

Iris's favorite things are playing in the park (especially swinging), reading her nursery rhymes (over, and over, and over), spinning around till she gets dizzy, looking for school buses, testing her limits with her parents, and painting with our nanny.

She has become very affectionate lately, thanks to a book called Hug Machine that she got as a present. She wants to hug and kiss everything. We went outside the other day and she said she wanted to hug and kiss the sun.

What did you say, Gama?

In the park 

aquarium

Iris had her first trip to the aquarium last week. In addition to being a massage therapist, our nanny works with a non-profit that was having a fundraiser at the aquarium. So we did the very uncharacteristic thing of taking Iris out on the town after dinner time.

My mom had come in for short visit because Evan had a business trip in California. At some point during the last few weeks of vomiting we decided that it was better to have two people with Iris in the evenings to help out in case of vomiting.

Iris wasn't really sure what was going on and it took her a while to figure out that there were living creatures behind the glass. Finally, she got really excited about them and was totally wired. She also wanted to make friends with all the little people she saw, and was sometimes more interested in the people than in the water bound animals.

It was hard to get used to her running freely and not having to worry about the oxygen cord. It was also a weird sensation [in a good way] to have Iris look like a totally normal kid, instead of a sick baby. We took the oxygen with us and left it in the car so that she would have it on when she fell asleep.

Sarah, Iris, Alyssia & Ky 

Iris and Grandma look at the fish

Still looking at fish

Very excited about the fish

untethered

Iris surprised us by continuing to vomit into this week, making it three weeks since the vomiting first started. After a break during the few days my dad visited, she started up again. Evan also came down with a totally debilitating stomach flu. He was able to pull it together to help our nanny clean up some of Iris's vomit while I was at work one day, but spent most of his time in bed. I came home that afternoon with chicken soup and saltines for the both of them.

The days have blurred together for me, but we took Iris to the emergency room one evening this week after vomiting. It wasn't exactly that she had a true emergency. Rather, we just had to have someone look at her. I had been on the phone with our pediatrician and our cardiologists several times in the past couple weeks, but hadn't brought Iris in to see them. This was partially because we had the idea that it was possible that Iris got a stomach bug from her most recent visits to the doctors and why expose her to more germs if everyone was reasonably sure it was a stomach bug?

The trip to the emergency room ended up not being all that helpful and we subjected Iris to a needless x-ray of her belly. That night I decided, "No more formula." She hasn't vomited since stopping the formula, which, by now makes four vomit-free days (assuming we make it another few hours tonight). She's now on rice and quinoa milk, and I'll probably add hemp milk to get in more calories. She is eating well and I think she'll put on some of the weight she has lost, which is 10 oz.

I took her to see the pediatrician the next day and she gave me some little jars to get stool and urine samples. Otherwise, she agreed with stopping the formula and wanted to get probiotics into Iris in any way possible. She also wants me to talk to the cardiologists again, which I was already planning to do.

No cannula in that nose.

In the midst of all of this, something great has happened. Iris no longer is on oxygen during the days! I can hardly believe it. Neither Evan nor I fully understand what it means. We've lugged around this heavy and annoying oxygen tank with us for 1 1/2 years, along with the maddening oxygen cord.  We've been longing for the day when we can free her from her oxygen leash and yet it feels so anti-climactic. And now, suddenly, we have a baby free who can run anywhere she wants, untethered. She still has oxygen when she sleeps, so we are not totally free of the oxygen.

Dara and Iris hanging out on Saturday afternoon.

Evan went out of town for a business trip for a few days and my mom flew back to spend a few days with us to help out. She had just been here a few weeks before and was here for the beginning of the vomiting episodes. She has been a huge help in every way imaginable. The house is cleaner when she is around, and the endless pile of laundry in our TV room diminishes. We also get as many date nights as we can cram in. And it's really fun to hear Grandma and Iris laughing together.

Iris loves her Grandma...

...because Grandma makes funny noises.