Monday, April 14, 2014

Scrambled genes and toast.

Genetics appointment complete. Grrr.

Up until this point doctors have been using the generic diagnosis of Epidermal Nevus Syndrome, however after seeing him today they confirmed (to the best of their knowledge) what I diagnosed him with months ago, Linear Nevus Sebaceous Syndrome (aka Schimmelpenning Syndrome). See my link for more detailed information about the syndrome. Zacchaio had blood drawn today and will have a tissue biopsy in the near future to test and isolate the genetic mutation that caused his syndrome. Only those results can truly confirm his diagnosis. Today's genetic test costs $4,400 and I'm keeping my fingers crossed that insurance is as generous today as they have been in the past!

In regards to Zacchaio's diagnosis, I'm conflicted with my feelings. On one hand I'm relieved because there were far worse syndromes under the Epidermal Nevus Syndrome umbrella that he could have potentially had. At the same time, I've exhausted my research on his condition and know the many ways it can manifest in the future... and it's scary. So I take a few deep breaths and remind myself to continue taking it a day at a time.


Although they were unofficial measurements, the genetics doctor measured the lengths of Zacchaio's limbs, among other things, and they have in fact grown longer than their left-sided counterparts. That's what I was afraid of. His hemihypertrophy is in full swing.

His right leg is 1cm longer than his left. His right arm is 0.5cm longer than his left. His right hand and right foot are also marginally bigger than the left hand and foot. I can't quite recall those measurements.
We cannot, nor can the geneticist, qualify the measurements or speak to which direction his care is now headed. We at least got an orthopedist consult so we'll know more at a later time.

Overall, our geneticists will serve as a kind of orchestrator throughout Zacchaio's journey. They'll collaborate with all the other specialties and recommend further radiological testing to continue to monitor the growth of his organs and any newly developing malformations.

Zacchaio's over-growing right hand, needle-stuck left arm,
and his incredibly sweet disposition during his appointments.

In other news, I forgot to write about us going to see a homeopathic doctor last week.
I always thought of homeopathy as a bunch of hocus-pocus. That is, until I saw a homeopath in June of last year as a last-ditch effort to aid in my morning sickness and neurotic behavior (sorry, babe) while pregnant. I went in with a hopeless attitude to say the least, and couldn't wait for my grand moment to announce an operatic, "I told you so!" to my husband. The thing is, my moment to bask in my own right-ness never came. Though unable to be proven by modern science, the hocus-pocus "10 times smacked vial, 7 drops dropped, and 15-second stirred" remedy fixed me. What?!

Considering my son has only one of the most rare genetic neuro-cutaneous disorders known to man, I figured a little hocus-pocus on him couldn't hurt; so we took him in.

We're currently day 6 into his initial 20-day remedy loading period, and although we haven't witnessed a miracle (I never expected one) I do think we're seeing some progress! Seriously? Zacchaio's right leg overgrowth (thickness) doesn't seem to be as stark of a contrast to his left leg as I last remember. The homeopathic doctor (who is a homeopath and an MD) says we should give the remedy three months to do what its capable of, and if after giving it adequate time we see no difference, we can try a different remedy. The bottom line is if someone told me that rubbing maple syrup on my son three times a day would help his condition even in the slightest, I would do it... while eating french toast. :)

God continues to guide us daily in our care of Zacchaio, and though it's not my strong suit, I am finally being a good listener. (God, please remember to add a gold star to my reward chart!)

Thursday, April 10, 2014

A mixed bag... Neurology and Cardiology

Yesterday we saw the neurologist. Zacchaio's neurological exam was completely normal, as was his EEG (which measures the electrical activity in the brain). As of right now it's safe to say he is a neurologically normal newborn! I know today's normal doesn't guarantee tomorrow's, but for now our baby's brain is developing as it should and that's reason to celebrate. 
Slept right through his EEG!  

Today we saw the cardiologist out of UCSF, Dr. Tanel. A great man and an even better doctor. I appreciated the way in which he treated Aidan and me as equals, and acknowledged and celebrated the miracle that Zacchaio is.

After reviewing Zacchaio's EKG, Dr. Tanel was happy with his heart rate control and feeling hopeful about there being normal sinus rhythm intermittently peppered within his irregular rhythm. Though Zacchaio has been cardiac monitor-free for a few days now, he got a new Holter monitor today which allows the doctor to see continuous cardiac activity for the next 24 hours. This will give him a better idea of the ratio of normal rhythm to arrhythmia, as opposed to the limited alarm functionality of the previous monitor.

He also had an echocardiogram to evaluate whether his arrhythmia has inspired any remodeling of his heart, and thankfully it has not. Structurally, his heart looks fantastic and his arrhythmia has not affected its function in the least.

What they DID see on the echocardiogram was pulmonary hypertension, higher than normal pressures in his lungs, which they anticipated would have resolved by now. We're awaiting recommendations from the pulmonary hypertension specialist. They also noted higher than normal velocities in his aortic arch due to the congenital stenosis (narrowing) that's present there. Fast-forward a bit, if the narrowing doesn't grow proportionately with Zacchaio, they'll likely do a cardiac catheterization and inflate a balloon in his aorta in an effort to manually widen the narrowing. Luckily he continues to show NO signs of inadequate perfusion or difficulty breathing, so we embrace today, feeling blessed that he has resilient lungs and a tenacious heart.

Genetics appointment next week and a dermatology appointment the week after. Praying for good news, praying for an ability to find peace amidst unanticipated news.
With every passing day that our boy appears "normal" (aside from his skin, heart, and eye), Aidan and I find ourselves more convinced that his long-term outcome will also be "normal." It is days like these that ground us again. We continue to wake up every morning doing our best to balance our optimism.

All in all, I just can't get enough of this little peanut! 

Thursday, April 3, 2014

On your mark, get set, GROW!

Zacchaio has been having bi-weekly pediatrician visits (in addition to seeing his specialists), however that all changed today! Only once a month from here on out.

At 1.2 months (adjusted age) he weighed in at 9 pounds 14 ounces and measured in at 21.5 inches. This puts him in the 50th percentile on the growth chart in both height AND weight! I'm usually not one to celebrate mediocrity, but in his case, way to be average, little buddy! Being in the middle of the pack after such a rough start to the race (the equivalent of an untied shoe, side cramp, rolled ankle in a pot hole, etc.) is cause for celebration! We (pediatrician included) have been pleasantly surprised and impressed with his weight gain, especially considering how newly introduced to nursing he is and that he came down with croup 5 days ago. I know, right? He was put through the ringer in the NICU, finally leaves the germy hospital and then gets acutely ill. Ugh. His bark has fortunately disappeared (with the help of essential oils and humidified air) but his cough is still moist. But even in the midst of sickness, Zacchaio has been in great spirits. In fact, his spirits inspired him to have his first social smile yesterday, and what a beautiful site it was! I tell you, he has the most endearing left dimple. Yes, singular. The nevus skin on his right cheek is stubborn and refuses to acknowledge joy. Seriously speaking, socially smiling is a major milestone for Zacchaio and we weren't sure when or if it would ever come. It is a stepping stone in his develop that strengthens our confidence that he is in fact advancing neurologically. 

Barring unanticipated cardiac changes, his heart monitor will go away in a few days and we'll finally be wire-free. I can't wait! The dangling silver cardiac monitor has never managed to complement a single one of his outfits. Hehe. 

Next check-ins are with neurology and cardiology next week. 

Wednesday, April 2, 2014

A visit to the Ophthalmologist

Great news!
Although Zacchaio's corneal opacities (clouding of his cornea) are still present (and always will be), they are NOT affecting his vision! We are so blessed that they are on the periphery and not centrally located. Had they been more central the doctor said there would be vision loss, lazy eye, and moderate to severe near/far-sightedness. The doctor went a step further and said he is confident his vision will remain unaffected in the future as well!
We will continue playing it conservatively for now which means follow up eye appointments every few months, but what a fantastic morning! We have at least one appointment per week this month with other specialties and I'm hoping this is merely a start to a string of good news!
Our ophthalmologist, Dr. Hoyt out of UCSF, was so personable, considerate, sincere, and cheerful. He was most definitely worth the long trek into the city this morning. We were also lucky enough to bump into our favorite nurse and pediatric anesthesiologist following our appointment at the Starbucks around the corner. They were both integral in Zacchaio's care while in the NICU, and although we might have had a professional relationship with them in the hospital, they're turning out to be lifelong friends out of the hospital. 
Great care, great people, great miracles.