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!’"