From Birth to Diagnosis

My Bambino was born in the Fall of 2007. My pregnancy was uneventful. In addition to my regular OB-Gyn, I was being seen by a fetal specialist who declared that the baby boy in my womb was as healthy as anyone could hope for. The fact that he would be delivered via C-section was no cause of concern because my firstborn was born through C-sec and my OB-Gyn didn't want to risk a VBAC (Vaginal Birth After Caesarean).

The following is some sort of a timeline leading up to his diagnosis:

• The moment he was born, the doctors noticed redness in Bambino's entire body.
• Two hours after, he was transfered to the NICU because he couldn't regulate his body temperature and the Neonatologist feared hypothermia. He was moved from the nursery to a temparature-regulated neonate incubator.
• Less than 12 hours after, the Neonatologist decided he needed to be transferred to a level 5 NICU. After several calls to three different hospitals, he found a vacancy at Cedars-Sinai Medical Center in Beverly Hills. He was transported at 3am.
• He was admitted at Cedars-Sinai for kidney malfunction and hypothermia.
  
• At Cedars-Sinai, the doctors were equally baffled. He was seen by Neonatologists, Dermatologists, Nephrologists, Neurologists, Geneticists and a host of Residents. There was no diagnosis except for the fact that he was being treated for Acidosis.
  
• At 10 days old, he was sent home with medication to treat the kidney stones he was born with. Still, no diagnosis. We went back every two weeks to consult with the Nephrologist.
• January, he was declared free of Acidosis by the Nephrologist. The Dermatologist threw in the towel - he said there was nothing he could do. He referred us to the same Geneticist who saw him at the NICU.
  
• January, we saw a Korean Oriental Medicine Practicioner. Since she couldn't treat Bambino directly because of his age, she gave me all sorts of roots and bitter tea to drink. I gave it 10 days before halting the "treatment."
• February, Bambino started losing all his hair.
  
• February, we went to see other Dermatologists, this time at UCLA. They made him try topical steroids. It didn't feel right by me that they were treating him for something they don't know about. I often voiced out my concern about the side-effects of the steroids on my infant. The doctors were oblivious of my hesitation. My husband thought we should listen to the doctors.
• February, we also started seeing an Immunologist and a GI Doctor, all at UCLA.
  
• By March, the Dermatologists started insinuating that it could be Netherton Syndrome, but that they couldn't be sure until after the genetic testing. They also performed a biopsy, the results of which came back inconclusive.
  
• The Geneticist at Cedar's-Sinai referred us to a Geneticist-Pediatric Dermatologist up in Seattle, Dr. Virginia Sybert who wrote a book on Genetic Skin Diseases.
  
• April, we flew up to see Dr. Sybert, who told us nothing new. She just reiterated the need for genetic testing.
  
• The result of the Spink-5 testing came back after 2 months. It was faxed to us by Cedars-Sinai Genetics Department on the day we were heading up to Palo Alto to see the Genetics-Dermatology team at Lucille-Packard in Stanford.
• June. Finally, a diagnosis. We heard it first from the team at Stanford, with the aid of the SPINK5 result we brought along with us. We were told that because of the nature of his disorder, steroids and other harsh chemicals was to be used sparingly (or never, if we could help it) because of the danger of systemic absorption. I felt vindicated, I was glad that I defied the doctors' order regarding the use of steroids.
  

Right after the diagnosis in June came Bambino's worst breakout. For about two weeks, his skin was weepy, scaly and just coming right off of him. It affected his entire body. It started in his extremities and eventually spread out. His skin was also painful to the touch. He was understandably very miserable, his voice became sore from crying and screaming. It was too much for an 8-month old baby to bear. We would be crying together as I lather him up with Aquaphor. We found out that a couple of weeks worth of Cephalexin helped.

One thing we are grateful about - that it wasn't always like that. True, that was the worst. But there were also better days.