Tuesday, December 30, 2008

Woohoo! All's Clear

Bambino's break-out ended after 21 days. He is a happy camper again. T'was a happy Christmas indeed-o!

Kiddo & Bambino in their matching outfits :)

Thursday, December 25, 2008

My Babies Make Everything Worthwhile

Babies are the most self-centered, impatient and loud human beings on the planet. They keep you up all night, they make you miss meals and showers, throw up on you - they literally take over your life.

In high school, i missed several outings, seminars and other school opportunities because I had to care for one of these babies.

When I had one of my own, I had to stop my entire life as I knew it, in order to raise one. I left college, learn to cook, manage a household and later on make a living - starting at a tender age of 19.

In retrospect, I have no regrets. Oh, only one: not finishing college. But that is still in the horizon - as soon as this little one lets go of me, I can always go back.

For while babies think they are the center of the Universe and you have to be at their beck and call, ready to satisfy their whims; they are also the most loving and forgiving. And the happy sounds they make are more beautiful than any music.

Merry Christmas to each one of my babies. They are now scattered all around the globe. And my yuletide wish is for them to be together again in one place - Christmas or not.

They are not so small babies anymore. And though they didn't come from me, they are still my babies. I rocked them to sleep, sung lullabies for them, changed their diapers, (hand)washed their soiled cloth diapers, gave them their first haircut, trimmed their nails, suctioned their clogged noses, gave them their flu medicines, took them to their friends' birthday parties, organize their own birthday parties, shopped for presents for them, dressed them ...

And in return, I was given their unconditional love. I like to think I am their favorite Auntie. And I'm still holding on to the belief that I am my older son's best buddy, for he is truly mine. My life would be a lot difficult without him.

And I am most thankful above all, for this tiniest baby of them all and one with special needs. He fills our hearts with joy. He has been through so much but he is one tough little cookie. I am looking forward for my other babies to finally meet him.

Friday, December 12, 2008

When Things Are Difficult

Bambino's breakout started on the 1st of December. Today is the 12th day. It started in his chest/stomach area and is now affecting his diaper/thigh/leg areas. I have stopped all steroids therapies and the only management I am doing right now is gauze wrap, and this thigh/leg area is a little bit tricky to wrap. After his bath while his skin is still damp, I apply a thick layer of Aquaphor original ointment. I have compared this task to putting icing on a homemade cake - only that this Sweetcakes would be squirming and screaming and crying in pain. It is heartbreaking. After Aquaphor, I would wrap the affected area with a gauze bandage to keep the moisture in.

My baby's legs and thighs are bad. Thick layers of skin are coming right off, and I can only imagine how painful it is. The doctors have compared it to burn wounds. Because the skin is literally peeling away, he is also more susceptible to infection and we try to keep the affected areas clean. I wash his diaper area with water and mild soap whenever he "goes."

His voice is now hoarse, his throat is sore from crying. My husband and I would take turns holding him because that's the only thing we could do. He would also take comfort in nursing and it seems like he would suckle all night long while he sleeps and a little movement from me would wake him up and he would start to whine. We give him tylenol every now and then, and hydroxizine when he starts to itch.

Right now, as I'm typing this, he is in my arms in the cocoon of my Maya sling, asleep. I am comforted by the fact that these will all come to pass.

Wednesday, December 10, 2008

Ever Heard Of Sunscreen?

At the checkout counter at Ralph's:

Old Lady: Oh my God! What happened to your baby? Why is he so sunburned?

Me: He is not sunburned.

Her (ignoring my reply): Have you ever heard of sunscreen?

Me (ignoring her sarcasm): He has a skin condition.

Ok, that was the old me. I have stopped trying to explain the appearance of my son to random strangers. Now I just smile and shrug. Or agree to whatever they think Bambino has. Like at church sometime ago, a lady asked if it's eczema and I just nodded.

I don't know why some people think it's their business to know what's going on.

I wish people are more sensitive.

Sunday, December 7, 2008

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.

What Is Netherton Syndrome?

There are a number of sites out there which discuss and explain this disorder. Recently, a new article came up on Wikipedia:


But the most comprehensive and accurate description is from a Swedish site:


I keep a printed copy of the Swedish article in my "Bambino medical folder" for easy reference. The illustration above has been lifted from the site.

Saturday, December 6, 2008

Another Breakout

I guess some good things doesn't last. But I won't say never.

After two months of exhibiting no symptoms except for the occasional allergic reactions, my little Bambino is having another breakout and this one seemed to have crept up on us without any warning, unlike all the others. It used to be that he would start getting red in little spots around his body and would then progress all over.

I just noticed on Thursday morning that he screams whenever we lift him up, and after examining his chest and stomach areas, I saw it - what the doctors at UCLA termed as "classic netherton."

We always expect an outbreak during the changing of the season. Not that Southern California has "four seasons" like the ones the East Coast is popular for, but just the same, his break outs are more pronounced during those times.

This one is BAD. The last I remember that comes close to this one was his breakout in June, before the start of the summer. Then and now, Bambino's skin is just peeling off of him. And he screams to the touch. In June, it affected his entire body. I remember a solid piece of skin just falling off the soles of his feet. This time, it's just on his torso - so far.

My husband and I are hoping that this bout will disappear as soon as it showed up. We are praying.