11 Weeks Old and a New Diagnosis

Abby is now 11 weeks old and a whole 9lbs 10oz! While she is gaining weight steadily, we still aren't sure what is causing her breathing problems. They've run a lot of tests and she doesn't have any identifiable viruses or infections, but is still working harder to breathe than anyone would like. She likes to perplex us, this one.  We're hoping we won't be inpatient for too long this time, but who knows. They've been adjusting her meds to see if it makes any difference, but we haven't seen consistent improvement yet.

We did receive some interesting news though...

Shortly after arriving back at CCHMC we were visited by one of the genetic counselors we had met with during our first admission, letting us know that all of Abby's genetic panels had returned. After over six months of waiting and wondering, we finally have an answer: Abby has Noonan Syndrome, caused by a mutation of the KRAS gene. Noonan Syndrome is found in approximately 1 out of every 2,000 people, though only 2-5% of people with NS have the type Abby has, even fewer have craniosynostosis, and it would seem that Abby is the third person ever reported to have multi-suture craniosynostosis - establishing our girl as the super special nugget we've always known her to be.

The diagnosis of Noonan Syndrome explains nearly everything Abby has had to contend with since birth - from her specific heart conditions to her struggles with feeding intolerance. Though craniosynostosis is an atypical finding with Noonan's, it is not without precedent. Having this diagnosis also helps inform Abby's medical team of some things to look out for in the future: for instance, bleeding disorders are very common with NS, so she will need to have special tests run before every surgery to avoid complications. Otherwise, her present conditions will continue to be treated the way they would with any other member of the population. 

For me, it's comforting to know that there is one, over-arching explanation for Abby's medical struggles. One that we did nothing to cause, and could have done nothing to prevent. We've wondered since that first ultrasound what the puzzle would look like once completed - first it was Down Syndrome, and then it wasn't, next it was Pfeiffer Syndrome, and then it wasn't. I feel a lot of peace in finally knowing what it IS. It in no way defines Abby or what her life will be like, as the presentation of Noonan's varies widely, it simply helps us be better informed when considering her medical care. I feel like the puzzle has been solved. There aren't any missing pieces, it all fits, and now we can more fully appreciate the beautiful picture that is Aberdeen.

Along with receiving this news, this admission has been revelatory to us, in that we now feel sure of our need to move. We have found a place that cuts our current drive to CCHMC in half, and we hope to move in the next month or so. Though there are things that will be stressful about moving, we are confident that this is the right decision for our family and are looking forward to it.

As always, thank you for your continued thoughts and prayers.

aaaand...back to the hospital.

Abby has been readmitted to CCHMC after a few days of working very hard to breathe. When we called our cardiologist at the base (who also works at CCHMC), and he suggested that she may need to be admitted, I just wanted to cry. The first time we were home, I had completely reached my breaking point and was almost relieved when we were readmitted. At the time, we couldn't figure out why she wasn't growing or what we were doing wrong, and we knew that we needed help sorting out her feeding problems. This time it felt like we had things under control. We were physically exhausted, but Abby was still growing, so we were succeeding where we had previously failed. It really felt like things were going well, and we were so encouraged! Then, on Tuesday, as we were getting out of the car for a follow-up GI appointment, Abby started gasping for air. Her respiratory rate plummeted and her skin took on a strange, mottled appearance. She eventually recovered, but it was scary enough to send us to the cardiology clinic for observation. After a couple of hours it seemed like, though she was working a little hard to breathe, she wasn't in any acute distress, so we went home. We followed up with the base cardiologist the next two mornings when she continued to display increased work of breathing. Her oxygen saturation levels were lower than normal yesterday morning and it was decided that she would be admitted again. Although we suspect a respiratory virus is at play, there is also the possibility that her reflux is causing her to aspirate her food, which would be very very bad.

She has seemed ok since we arrived yesterday. Her oxygen saturation levels have been great again and nobody seems to know what's going on with her. We're still waiting on her viral screen to come back, but all of her other lab work came back clean. We did get some big news from genetics, which I will discuss in another post, but it doesn't have anything to do with these respiratory issues.

I'm not dealing with this admission well at all. I have to admit that maybe I wasn't doing as well at home as I'd thought either. I was getting irrationally angry with well-meaning people who simply didn't deserve it, but I think it was easier to focus my frustration on them than it was to actually deal with the stress of these last couple of months. Once we found out we were coming back, I had to take some time to work through the feelings I'd been squashing since before Abby's surgery, and I think I'm doing a little better now, but I just don't want to be here - I just want her to feel better so we can take her home.

Hopefully it will be soon. 

Here are some pictures of Abby being adorable at home even while not feeling well:

10 Weeks Old - Big Decisions

Abby is now 10 weeks old and we're working on figuring things out here at home...again. We've gotten to experience a lot of firsts these past few days: Abby had her first real bath in the baby bathtub - prior to this admission she still had her umbilical stump and needed sponge baths. She also spent her first night in her crib - she slept in the pack n play in our room last time she was home, and we're trying something different this time around. Gracie and Boone are very interested in her (Gracie seemed especially concerned during bathtime), and as long as Boone isn't barking, Abby is tolerating them pretty well! 

We're attempting to get a feasible routine going, since there's no such thing as a routine in the hospital, but we have to schedule pretty much everything around Abby's feeds. This can be complicated. I'd like to paint a picture for you of Abby's daily feeding schedule.

6am - start feed

8am - stop feed

9am - meds and start feed

11am - stop feed

12pm - start feed

2pm - stop feed

3pm - meds and start feed

5pm - stop feed

6pm - start feed

8pm - stop feed

9pm - meds and start feed

11pm - stop feed

12am - start feed

2am - stop feed

The idea is that she is being fed every three hours, which is fairly typical for a two-month-old. However, she cannot tolerate large volumes in the half-hour or so it would take other babies to eat, so instead she is fed over two hours, leaving only one hour between feeds. Eventually, the hope is that her tolerance will improve and she will be able to receive her food in less time. 

While Abby is on a feed she is connected to the feeding pump, which is on an IV pole. We can move her from room to room, but pretty much anything more than that is quite difficult. Which means that unless absolutely necessary (i.e. medical appointments), Abby (and thusly, one of us) stays at home during her feeds. When she is on one of her one hour breaks, we try to fit in everything that might make her sick while on a feed, like bathtime, tummy time, and sitting in the swing. We are also supposed to try bottle feeding to develop Abby's oral skills. It doesn't leave time for much else. 

When we're in the hospital, the nurses set up and stop all of her feeds, which allows us to just attend to Abby during the night. At home we take care of both, and Abby hasn't figured out how to coordinate her many nightly wake-ups with times that the pump is beeping/needs attending to (come on kid, get it together, right?). This means even less sleep than parents would normally get with a two-month-old. Hence, moving Abby into her room, and us taking turns sleeping in there with her. At some point one of us has to get some sleep.

I dealt with Abby's neurosurgery at five weeks fine. I've dealt with her ongoing heart problems and the prospect of impending surgeries fine. I've dealt with nearly two months in the hospital fine. For whatever reason, this feeding thing is where I crack. 

I know that compared to what some of our CCHMC friends are going through, this really isn't that dire, but like I said a couple of weeks ago, sometimes we have to admit when things are hard for us - this is hard.

There is also the stress associated with Abby's current feeding tube. What she has now is called an NG (naso-gastric) tube. The tube goes through her nose, down her esophagus, and empties straight into her stomach. This type of tube is not-ideal for many reasons:

1. It can move out of her stomach fairly easily if she vomits (which she does forcefully and frequently) and accidentally end up dumping the food into her esophagus, which is not safe. There is no way for us to know if the tube has moved without an X-Ray unless we figure it out the hard way (a dramatic increase in vomiting). 

2. It impedes development and will become a greater issue as she becomes more mobile. She currently has to have her hands covered much of the day to keep her from grabbing and pulling out the tube. This is discouraged by all of her therapists, but...

3. Replacing the NG is a traumatic experience for her that requires multiple people to achieve. Soon I will be home by myself with Abby a lot and I physically cannot drop a new tube on my own.

4. It must be taped to her face. Part of the downside to this is purely aesthetic, but it is also simply not good for her skin. The tape cannot get wet or it starts to peel off, which makes bathing difficult. It also gets disgusting if we don't catch her vomiting in exactly the right way. Replacing the tape is also an ordeal. 

5. It may be exacerbating her vomiting and reflux.

So what other options do we have? We can switch to a G-tube (which we'd planned on doing before we had to have our surprise neurosurgery). The G-tube is  implanted through her stomach, but can eventually be removed If she grows out of her need for it. The G-tube really only has one downside we can come up with, but unfortunately it may be a big enough one to cancel out all of the pros: it requires surgery and thusly, anesthesia. Cardiac patients, like Abby, are at much higher risk for complications due to anesthesia than the general public. We already know that Abby is going to have to have a number of absolutely necessary surgeries, can we in good conscience put her through another one?  It's something we're really struggling with.

While we were still in the hospital I was pretty sure I didn't want to risk getting the G-tube, but now that we're home, I'm leaning more toward thinking that we may need to. I want to do what's best for Abby, and I am having a really hard time figuring out what that is.

The other big decision we need to make is whether or not to move. Moving would put us closer to CCHMC and ensure that one of us could still get home to take care of the dogs if we end up inpatient again. We discovered during this admission that the dogs do not fare well if one of us is not there daily, and it's important to us that they not be forgotten in all of this. Unfortunately, moving would mean distancing ourselves from the great community of friends we have developed up here and would require the stress of, well, moving. 

Please join us in praying about these two decisions, as they are weighing heavily on us. 

As always, thank you for all of the prayers, help, and support.

2 Months Old and Going Home!!!

So, I wrote an entire post on Abby's two-month birthday that accidentally got deleted, so we're playing a bit of catch-up today, but it's worth it because we are going home!!!!

At two months old, Abby loves smiling at lights and windows, playing with her ears and hair, and taking long naps! She very much dislikes having her nose suctioned out and still doesn't care for diaper changes. She has become much more interactive lately and is starting to develop quite the little personality.

Abby has tolerated her goal feeding regimen for a few days, and they've decided that whatever changes we make from here on out can be done at home (as long as she's doing well, of course)! She has surpassed 9lbs now, showing consistent weight gain for the last two and a half weeks - which is amazing considering that she gained almost nothing for six weeks.

We are more confident going home this time around, since (with the exception of, you know, neurosurgery) this admission has been all about getting to understand Abby. Jameson and I feel like we get her quirks and eccentricities better and have a better idea of when to be concerned and when to let things slide. Going home is still nerve-wracking, but we're optimistic that things will go more smoothly this time around! We'll have lots of doctors appointments coming up, so Abby will still be closely monitored without having to be inpatient, which helps ease our worries a little.

Once we're home and settled in, I'll update more on our short and long-term plans!

Thank you for all of your thoughts and prayers!!!!

8 Weeks Old - Put a Bow On It

How Aberdeen is Doing:

She has finally gained some weight! Abby is now a whole pound above birth weight!!! She is still vomiting a fair bit, but now that she is actually putting on some weight, the doctors aren't quite as worried about it. She has started smiling a lot this week and even rolled from her tummy to her back during PT! It's been a week full of milestones! The doctors will want to make sure she can consistently gain weight on what will be our home feeding regimen before letting us leave, but it seems like that is now in the foreseeable future.

How We're Doing:

Okay.

After waiting for three and a half weeks, we finally got into the Ronald McDonald House on Thursday. Which, if we weren't already, officially makes us "hospital people."  For those not familiar with this wonderful program, RMH is an apartment-like set-up for people whose kids are in an adjacent hospital. They provide housing and some meals free of charge and really go out of their way to make things a little easier for families in difficult situations. Next time you see one of their donation boxes, I encourage you to drop in some change, as what they're doing is invaluable.  

Because getting back to the house has been so hard, we've started discussing the prospect of moving somewhere in between Cincinnati and the base. So far, family and friends have been caring for our dogs (I've seen them a total of three times in the last four weeks), and we really miss them.  Not being able to get home on a regular basis is taxing, and we simply don't think it's feasible to continue operating this way long-term.  We're early in the process of looking into moving, but wouldn't mind help if anyone knows of opportunities to rent in the Springboro to Mason area. 

Emotionally, this admission has been very different than our first. Getting Abby's feeds and failure to thrive under control has been a painstaking process, that has ultimately required a switch to straight formula. While it was something I suggested trying, and am thrilled is working, it's also very hard to accept that, as her mom, I couldn't provide her with what she needed. I already struggle with feeling like I somehow failed her while pregnant, and that I'm continuing to fail her even now. Genetics has assured us that this isn't the case, that her conditions were just something that happened, but I can't help but assign myself some blame. It's just hard. Both Jameson and I do our best to put a positive spin on things, as much for other people's benefit as our own, but sometimes we have to admit that it's just hard.

Jameson did some cathartic writing this week that he requested I share. It's hard for even me to read, but it's an accurate description of how we often feel, and especially how he feels as he tries to navigate splitting his time and attention between here and work.  He's been an amazing dad and husband through everything, but I know the stress is starting to take its toll. If you pray for Abby, please pray for him as well. 

________________________________________

From Aberdeen's Father

My daughter has craniosynostosis, hypertrophic cardiomyopathy with an outflow obstruction, a large aortic septal defect, a persistent patent ductus arteriosis, and a small ventricular septal defect. She had neurosurgery at 5.75 weeks of age. She has been fed through a feeding tube or an IV since birth. Her endurance is so limited by her heart condition that she cannot feed by mouth enough to live. She has lived in a hospital for 43 days of her 53 day life. My wife has lived in the hospital with her the vast majority of that time, which has involved CT scans, an MRI, dozens of echocardiograms, and screaming IV placement sessions, 0400 heel pricks for blood we know will hemolize before the test can be run, vomiting while food is pumped into Aberdeen's stomach, and other instruments of pain. I cried in the parking lot yesterday after telling my friend that I will likely be moving 35 minutes south of where we live to be closer to the hospital. I’m a grown man. My adrenaline is wearing off.

Everytime I am asked "how is your daughter doing?" "how is her mom doing?" all of the above runs through my mind. How do I give you a 25 second answer that ends on a happy note? How can I be honest about how we are doing 37 times a day without completely losing my ability to function in a work environment? "Well, she had brain surgery two weeks ago and we've been in the hospital for 3.5 weeks. Nope, her heart condition won’t be healed anytime soon.” Awkward pause, while the person figures out what to say… “But her head looks good,” I say to give them an escape. Then, rinse and repeat everyday hour of everyday for the longest 7.5 weeks of my life. 

Aberdeen isn’t going to die tomorrow or this week, nor is she going to get better tomorrow or this week. I can’t put a bow on this situation for you that allows for a five-second CNN positive soundbite. Am I angry at God? Nope, not really. I knew (better than most) that this was a chance when we decided not to adopt and try to have a biological child. I’m fine with learning from this situation for the rest of forever. Did I push Bethany to have a biological kid? Sure did. Do I feel like it was my ego that contributed to Aberdeen’s problems? Definitely. Had I just been alright with however long it took to adopt we may not have been in this place right now. Does my lack of control (perceived or otherwise) make this even more difficult? Yep.

I was good at my job, but I am getting worse. I am like a drug addict who can’t shoot-up for ten hours a day, while dealing with billion dollar decisions. My temper is getting shorter.

And yet, like a high school student wanting to add a killer conclusion to my five-paragraph essay, I still want to give you a happy ending.

Jameson took this picture while driving back and forth from the hospital. Seemed appropriate.