About Zacchaio

The beginning...

On January 9, 2014, our son Zacchaio was born via emergency c-section at just shy of 33 weeks old.

My seemingly normal and healthy pregnancy took a turn for the worst at my 33 week prenatal appointment as our baby’s heart rhythm was discovered to be for the first time, incredibly irregular. Ultrasounds investigating the cause ultimately revealed Zacchaio had hydrops, bilateral pleural effusions (fluid around his lungs), ascites (fluid in his abdomen), and a pericardial effusion (fluid around his heart). The c-section happened soon after, understandably so, and although there wasn't much optimism for his survival, he overcame! 

At birth we were astonished to see that our son had wart-like lesions on 80% of the right side of his body (scalp, face, neck, chest, arm, hand, abdomen, scrotum, leg, and foot). He was soon diagnosed with a neurocutaneous (brain-skin) disorder called Epidermal Nevus Syndrome, specifically Schimmelpenning Syndrome. The syndrome itself is incredibly rare (a random genetic mutation at conception that is not hereditary), which makes predicting its course and capabilities near impossible.

At one year...

Zacchaio is still with us... and thriving! He remains seizure-free and continues to develop at astonishing rates with the help of neuro-movement therapy (the Anat Baniel Method)! We continue to be vigilant with cancer screenings due to his high risk for malignancy. We feel especially blessed to be exhausted at the end of each day as we put our best effort forth to keep up with our son's incredible enthusiasm for life!




 

Zacchaio's diagnoses to date:

• KRAS mutation (genetic mutation responsible for LNSS)
• Linear Nevus Sebaceous Syndrome aka Schimmelpenning Syndrome (overarching diagnosis that has caused body-wide malformations and resulted in the diagnoses below)
• Sebaceous nevi (hairless skin overgrowth of the scalp, face, neck, arm, chest, groin, leg, and foot on only the right side of his body).
• Epilepsy/Seizure Disorder (diagnosed 6/2014)
• Infantile Spasms (diagnosed 6/2014)
• Cortical Dysplasia (abnormal migration of neurons in the brain) (diagnosed 8/2014)
• Hemimegalencephaly (half of the brain abnormally larger than the other) (diagnosed 8/2014)
• Skull Resorption (absorption of parts of the skull bone leaving "soft spots") (diagnosed 11/2014)
• Aplasia Cutis Congenita (areas on scalp where skin did not fully develop) (diagnosed 1/2014)
• Corneal Opacities (clouding of his right cornea) (diagnosed 1/2014)
• Left Visual Field Defect (loss of the left half of the visual field in both eyes due to removal of the right occipital lobe) 
• Right-sided Hemi-hypertrophy (faster/larger growth of bone and tissue on one side of the body) (diagnosed 1/2014)
• Multifocal Atrial Tachycardia (upper chambers of heart beat 2-4 times faster than the bottom chambers) (diagnosed 1/2014)
• Coarctation of the Aorta (narrowing of the aorta which supplies blood to his systemic circulation)  (diagnosed 1/2014)
• Bone Tumor of the Right Humerus  (diagnosed 10/2014)
• Renal Cyst (Right) (diagnosed 2/2015)
• Laryngomalacia/Tracheomalacia (floppy cartilage of the airway that easily closes in on itself) (diagnosed 5/2014)
• Severe Obstructive Sleep Apnea (frequent cessation of breathing during sleep) (diagnosed 2/2015)
• Subglottic Stenosis (50% narrowing in diameter of the subglottis, lower part of larynx) (diagnosed 6/2015)
• Resolved Chylothorax (a malformed thoracic duct which leaked copious amounts of chylous fluid into the pleural space surrounding his lungs)  (diagnosed 1/2014)

Zacchaio's surgeries to date:

• Right Temportal/Parietal/Occipital Lobe (Brain) Resection (August 2014, Cleveland Clinic)
• Scalp Nevus Removal (October 2014-June 2015, UCSF Children's)

...and so we continue on, one day at a time, with your love, support, prayers, and tremendous faith in God...

Zacchaio at 3 months old. Scalp sebaceous nevus is hiding under his knit cap!

A little about the rest of us...

My name is Alexis, my husband is Aidan, and my son is Alkaio. I'm a nurse on an ICU Intermediate Unit, my husband is a middle school teacher, and our older son Alkaio is a book, music, and baseball-lovin' boy who plays hard and loves even harder. We're absolutely thrilled to finally be a family of four and are prepared to take on what life has to offer united and strong.

When we find ourselves approaching Zacchaio's next health obstacle with apprehension, Aidan and I make eye contact and light-heartedly mouth our mantra, "Don't be nevus..."

Our announcement photo from August 2013