Saturday, May 24, 2014

Good news?! You don't say!

We're not used to good news, nor do we ever expect it.

A few days ago we had a follow-up with the pulmonary hypertension specialist out of UCSF, Dr. Robertson. After completing Zacchaio's echocardiogram, the doctor, a pulmonary nurse practitioner, and our favorite nurse from his NICU stay (who is training to be an NP) all walked in with the results. The echocardiogram looked PERFECT*! NO MORE PULMONARY HYPERTENSION! Rejoice! Wham, bam, thank you ma'am(s)! We crossed a specialty off his list!

*Still some narrowing in his aortic arch, but it's very mild and not worsening. :o)

Following the good news, they proceeded to fall in love with our baby boy. I couldn't blame them, hehe. After 20 minutes of fun and interactive play with Zacchaio, they said they were officially signing off, though they asked if they could keep his name on their patient list so they could have social visits whenever we're in town seeing other specialists. I love our medical family.

Our next visit was with the pulmonologist, the doctor who originally suggested putting the NG tube back in. He's really happy with Zacchaio's lungs and weight gain. In fact, he says there is definitely NO issue with his lungs, just his upper airway. After watching a couple of videos I took of Zacchaio's whistle-breathing and listening carefully to my accounts of his sometimes troubled breathing, he was able to finally diagnose him with laryngomalacia. In short, the tissue in his upper larynx is incredibly soft. As he gets older and is able to take more forceful inhalations, his larynx collapses in on itself and closes off his airway. Although adding yet another diagnosis to his long list may be anxiety-provoking for some, we're finding comfort in the fact that we have now identified the problem and can seek out information to help manage it. He did give us the green light to start trying oral feeds again while continuing to supplement through the NG tube. So far he gets as much as 40mL nursing, and the remaining 80mL by tube. Initially I was discouraged by the pace of his progress because I was going back to work on May 25th, but after seeing my incredible OB physician's assistant on Friday, my disability has been extended until June 20th! This gives me time to work on his transition back to nursing and bottle to hopefully have that tube out by the end of June. 

Our miracle continues to grow and thrive amidst setbacks and we're so proud of him for that! Aidan and I are hanging on by a thread in regards to sleep but are hopeful that will change soon as Zacchaio continues to gain weight.

 A little video to give you a glimpse into the bright and beautiful world of Zacchaio! (Please ignore my nappy morning hair)

Monday, May 19, 2014

Neuro, and Plastics, and Lungs, oh my!


The neurologist we saw last month was out of Children’s Oakland and we weren’t very impressed with the quality of the appointment. What’s new, right? We have high expectations! With our vow to never settle, we sought out a new neurologist out of UCSF and ultimately connected with Dr. Litwin. She went above and beyond and showed me EVERY image from the MRI of his brain (there were hundreds!). Fortunately, she has had quite a bit of experience with children diagnosed with neurocutaneous (brain-skin) disorders and was feeling rather optimistic about his brain and current neurological development. His neurological exam was mostly normal, but she did notice a moderate head lag when trying to pull Zacchaio up to a seated position from a lying positions by his arms. She didn’t seem very concerned, as not only was Zacchaio preemie, but he had a very rough start to life that put him a bit behind in his development. With that, she urged physical therapy and looked forward to a 3-month follow-up to monitor his progress. 

BVAC! (Birthmark and Vascular Anomaly Clinic)

We had the opportunity to attend UCSF’s invitation-only BVAC a couple of weeks ago. An interesting experience indeed! The 7 invitees were placed in exam rooms and physicians rotated into each room (stations, everybody!) to see, diagnose, and recommend treatments for each patient. The first few rounds were clusters of med school students who were in LOVE with Zacchaio but maybe a bit more in LOVE with his nevi. It was hilarious to watch… They would run their fingers over his skin lesions while a breathy, “woah,” “oh my,” and my favorite, “so beautiful” were uttered. Now don’t get me wrong, I love my son and think he is beautiful WITH his nevi, but do I think the nevi themselves are beautiful? No! In the students’ defense, they were getting to put eyes on something that dermatologists rarely witness in their lifetimes.  I digress…

The largest and most notable group finally came through and it was at that point that we had short and long-term plans to manage his skin. The world-renowned dermatologist, Dr. Frieden, told us it was only in the last few years that the genetic mutation that causes Zacchaio’s nevi was identified. Having this information makes her hopeful they will come up with treatments for his body-wide nevi sometime during his early years, so she discouraged us from intervening anytime in the near future. The laser surgeon said he could work on Zacchaio's right cheek if he would like in the future, but not until he is at least 5 years old. Dr. Frieden also highly recommended removing the nevus skin on Zacchaio’s scalp. The nevus skin on his scalp is already at a higher risk for cancer formation due to its nature of over-producing cells, and being that this skin is on the top of his head and so frequently exposed to the sun, it’s even higher risk. It made sense.

At this point the craniofacial surgeon, Dr. Hoffman, chimed in and stated that were we to do surgery in the next few months, it would be a 1-day procedure and he could get MOST of the nevus removed. It turns out that the scalp of a baby is extremely mobile and pliable which makes surgery easy if done early enough. If we wait any later than age 1, the scalp is mostly fixed and doing the same surgery would mean inserting saline bags surgically under his scalp, filling them weekly with injections, and continuing this process for 4-5 months until the skin has stretched/expanded enough to make of for the skin that would be excised.  Not only that, you have to be very aware of your child’s activity to avoid potential popping of the balloons and be vigilant about preventing infection.  The choice seems simple enough… Do the early 1-day procedure, duh! If only there weren’t confounding factors.

I put on my nursing hat (metaphorically, because I would never allow that little white bonnet to sit atop my head) and began researching anesthesia risks in infants. A number of retrospective studies have been done that show a mighty correlation between 2 or more exposures to anesthesia (under age 4) and learning and memory deficits/disabilities. Remember that Zacchaio is already high risk for intellectual disability due to his syndrome. On one hand, we would like to preserve as much of his brain function as possible, and doing so would mean to hold off on the traumatic 5-month long surgical journey until he is over 4 years old. On the other hand, we can avoid the torturous weekly saline injection visits, multiple opportunities for infection, and being home-bound for 5 months by doing surgery early.

Example of mild tissue expanders for nevus removal
Surgery is scheduled for July 11th.  He will be a whopping 6 months old (or 4 months adjusted).

It took us a long while to come to our conclusion, but Aidan and I agreed that 1) The retrospective studies are not CONCLUSIVE and are unable to take into account many other factors that play a role in the development of learning disabilities, and 2) We’re making an instinctive decision, and truth be told, so far our instinct has proven to be the gold standard in guiding Zacchaio’s care and getting him exactly what he needs.

We have to trust that if we’re making the wrong choice, God will make us aware of it and help us change it accordingly.


In trying to minimize his exposures to anesthesia, Zacchaio will also have a bronchoscopy (a scope will be put down his mouth to visualize his airway) piggybacked on his surgery.  I mentioned before that Zacchaio had a long bout of croup and viral illness, but the croup seems a bit chronic now and he has a signature bark anytime he coughs or sneezes. He has also been having some difficulty swallowing food. Just as he gains momentum sucking and swallowing during his feed, his nose will all of a sudden seem stuffy, he can’t take a breath in and he unlatches to avoid choking. The pulmonologist isn’t sure what’s causing the problem (he thinks maybe floppy cartilage of his trachea?) but the bronchoscopy should shed more light on the problem.

Physical Therapy

We had our first physical therapy appointment yesterday and are seeing Graciella out of Baby Builders in Oakland.  We tried using our insurance through Alta Bates and Children’s Oakland but the first appointments they had weren’t until the end of June.  I was frustrated to have to go out of network, but Zacchaio is in such a critical developmental period that every day we don’t get therapy is that much further behind he may become.

After having our initial evaluation, our concern that Zacchaio had right-sided torticollis (asymmetric head/neck position) was validated by the therapist. We noticed in the last couple of weeks that his head has been progressively tilting more to the right and that his head would fall or flop when in a position requiring his left-sided neck muscles. We were given a packet of exercises to help rectify the weakness and we definitely have our work cut out for us! We’ll continue physical therapy once a week for now and hope that in the next few months the torticollis will resolve.

So much happened in only 2 weeks! I’m copying and pasting my facebook post from this last week during our Disneyland vacation to end on a positive note. I’m so thankful our entire family was healthy enough for the trip!

“After being hospital and home bound for over 4 months, we feel so fortunate to be outside and enjoying what life, and Disney, have to offer! Having an opportunity to feel "normal" (with baby care center members knowing us by first name due to frequent visits) has been a wonderful way to celebrate our completed family of four! Eternal thank yous to Aidan's co-workers at CVUSD for their priceless gift of time through sick day donations. The outpouring of love and support from everyone has been overwhelming and has helped us navigate the unthinkable. This trip has served as a true respite from the constant focus on Zacchaio's ill health (though we're unfortunately still not getting any sleep with tube feeds). We will adjust yet again as Aidan and I head back to work in the next couple of weeks; until then much love from the Happiest Place on Earth, because who knows what tomorrow brings...

And so we move forward, ‘to infinity, and beyond!’"

Saturday, May 3, 2014

Acute illness is not even a little cute.

About three weeks have passed since my last post and our lives have been a bit tumultuous to say the least.

Acute illness is not even a little cute.

Out of the 7 weeks Zacchaio has been home, 4 1/2 of those weeks have been spent struggling to overcome croup and two viral illnesses. There is a reason that babies under the age of 3 months aren’t supposed to get sick...When he first showed signs of acute illness, Zacchaio’s adjusted age was only one month, meaning his anatomy was the equivalent size of a one month old’s. His airways were small and he had a very difficult time handling the thick secretions in his lungs. This led to him having difficulty with the coordination of breathing, sucking, and swallowing while eating. This has subsequently led to frustration, a lack of interest in eating, and ultimately a decrease in his weight. He's maintained 10 pounds for the last month. The decrease in his weight is a concern for a couple of different reasons. One, he doesn’t have enough calories to fight off the infections, and two, stunted growth hinders lung development (hence perpetuating the cycle).

Our growing concern for his failure to thrive led us to a fantastic pulmonologist yesterday. He wanted to admit him to the hospital for close observation of his respiratory status and place an NG tube to support him with his feedings. His logic is that although Zacchaio needs to fight through the acute illness on his own, we can support his caloric intake through NG feedings so there is no expenditure of energy. He hopes this will help him come out the other end a little faster.  After talking to us at length, he decided under his close supervision and frequent check-ins (though he’s never allowed it before), that Aidan and I could take him home and place and manage his NG tube on our own. I officially crossed the mom/nurse border yet again yesterday with successful NG tube placement and minimal discomfort on Zacchaio’s end. For now our lives continue to be bound by the four walls of our home with sounds of copious yellow secretions echoing through the nasal aspirator. It has been heart-breaking watching him struggle, whimper, and cry real tears over what seem so petty in the greater context of his health problems, but he continues to be so patient and tolerant of it all.
Zacchaio with NG tube. (Placed 5/2/14)
It’s been quite some time since I’ve seen his sweet smiles, but he must be feeling better because they’re back as of today! Nothing could bring me more joy than that lovable gummy grin of his!
Moving on to his chronic conditions…
We saw dermatology for the first time since our NICU discharge. A rarity in our experiences with UCSF medicine/physicians, we weren’t very impressed with the quality of the appointment. It was very narrow scope and unhelpful. They looked at his skin from head to toe, did a series of “mmhmms,” (which we’ve come to expect now that he’s a genetic anomaly) said everything looked about the same, then stared at us until the awkward silence inspired us to leave. I took that as my cue to fire off the many questions I had regarding current skin care, future treatments, collaboration between specialties, etc. I think I got under their skin a bit (no pun intended, hehe), because in an effort to cease my question-asking they said, “I think we should get him on the list for our BVAC Conference (Birthmarks and Vascular Anomalies Center).” Bazinga! That’s more like it! The BVAC Conference is made up of a specialized team of physicians (plastic/laser surgeons, dermatologists, neurologists, orthopedists, etc.)  who meet 9 times per year and discuss current and future treatment options of rare/special cases. If anything, this reaffirmed how much of an advocate we need to be for Zacchaio. Conference is on May 9th… More on that soon!
Schimmelpenning syndrome
A picture of Zacchaio's nevus skin at his dermatology appointment.
He rocks his spots! And his overgrown man nipple... ;o)

We also saw an orthopedist regarding Zacchaio’s hemi-hypertrophy. Although we hear it constantly, the words still make me cringe every time, “We’ll just have to wait and see...” There is no predicting how much longer Zacchaio’s right-sided limbs will become compared to his left. The long-term plan is at around ages 11-14, he’ll have an epiphysiodesis (surgery which removes part of the growth plate in his longer leg). Removing the plate will stunt the growth of his longer leg and allow his shorter leg time to catch up. In the meantime, he won’t get another set of full-body xrays to quantify the lengths until he has started walking. Just before he starts walking he’ll get a custom shoe lift to try and minimize the leg discrepancy and risk for scoliosis. We also got a referral for outpatient physical therapy, because there’s no harm in being proactive!
Zacchaio’s heart arrhythmia has only modestly changed, but for the better! The cardiologist continues to see more and more normal sinus rhythm. His heart is also requiring less medication to control its rate which is why we’re letting him outgrow some of his doses.  
Neurologically, Zacchaio is still hitting his adjusted milestones. I thank God most for this one!  
To all of you who remain interested and supportive in Zacchaio’s journey, thank you!! We continue to pray for miracles!
We didn't get to celebrate the Big Fat Greek Easter we had hoped for on account
of Zacchaio being sick, but we made the best out of it!