Carmelina’s Story

“One of her doctors before said that she could feel pain but not experience pleasure. I think this picture proves otherwise.”

Carmelina Simon, Trisomy 13, June 15, 2015,  Cochranton, PA

carmelina11months1aUpdate May 18, 2016:  Carmelina has now been out of the womb for 11 months! She is rolling all over the place and getting up into position to start crawling. A strobe light (I think) has her giggling up a storm.

The lip adhesion and premaxilla retraction surgery that was upcoming at the time of my first post was a success.

What we thought were myoclonic jerks have now been diagnosed as seizures and she has started on a small dose of Keppra, which has been effective at controlling them so far. She also has been having some episodes where she stops breathing for periods, and these actually prompted the new EEG, but she had none during it, and so it is still uncertain whether they are seizures or (the supposedly harmless)”breath holding spells” or what.

Read more at her blog at It needs some work, but I have been keeping a brief record of her life over the past several months there, and I plan to continue updating it from time to time.

carmelina7monthsPrevious text: Yesterday, January 15, 2016, marked 7 months that my niece Carmelina has been out of the womb. Her blood is staying saturated with oxygen most of the time now (she isn’t on supplemental oxygen and breathes on her own but has a machine that monitors her blood O2 levels), her weight (nearly 14 pounds) is getting into a better range, and she is getting pretty tall. At least since Thanksgiving, when I witnessed it, she has been able to roll over from her back to her stomach with some prompting like tickling her back, and she likes to stand with someone holding onto her.

The “moderate to large” ASD (atrial septal defect – a hole between the upper 2 chambers of the heart) that remains in her heart appears to have shrunken according to her last echocardiogram from 10 mm x 7mm to 10 x 4. I always worried that this should have been repaired long ago after having read about other kids with similar size defects having problems early on, but it has never seemed to cause her any problems and now seems to be shrinking on its own, which usually only happens for smaller holes, so it looks like her parents probably did the right thing by waiting in her case, but that doesn’t mean it’s best to wait in all cases.

A nurse comes each day to be with her overnight.

She eats with a g-tube, which is a tube that goes directly into her stomach through the abdominal wall.

She is blind due to retinal detachment and persistent fetal vasculature (extra blood vessels and other tissue that occurs during development but normally will disappear), but she has some light perception. She uses a light box, upon which you place colored transparencies of different shapes and patterns, to stimulate her vision, daily.

Carmelina experiences regular myoclonic jerks (uncontrolled twitching of the muscles as occurs in a hiccup or when you wake up with a start as you are about to fall asleep; these are not epileptic and not the much more serious infantile spasms) that can be a bit of a nuisance, as you don’t want her to hit her head or something when she is having one.

She can’t currently hear out of her left ear, but may be able to in the future. She has minor hearing loss in the right ear at upper mid and high frequencies.

All in all, she seems like a pretty normal kid these past several months home with her family, though things still aren’t easy for her or her parents, especially if a nurse isn’t able to make it some night and her Mom ends up having to stay up all night with her.

…But, they’ve come a long way:

Most of Carmelina’s first few months out were spent in the hospital, sometimes under an oxygen hood, and her mother spent many nights there in the room with her.

She’s battled jaundice, pneumonia, unexplained drops in oxygen saturation, possible sleep apnea, septic ileus (no intestinal motion and bile coming up into her stomach that had to be pumped out), a urinary tract infection from urinary reflux, parotitis (swelling of the salivary gland in the cheek) caused by a scopolamine patch that was prescribed to help decrease saliva production for better swallowing, bigoted doctors, and even 1 episode of cardiopulmonary arrest on her first day home from the hospital that sent her right back in after being resuscitated by the overnight nurse shortly after she went on duty for the first time.

She had 5 surgeries in 1 day, August 14 2015, at about 2 months out – malrotation(repositioning the intestines within the abdominal cavity to a more favorable though not normal position), fundoplication (wrapping the top of the stomach around the esophagus to help prevent reflux), gastrostomy(to install the g-tube), umbilical hernia, and appendectomy (there was nothing wrong with her appendix, and I hated to see it go, but it supposedly would have gotten in the way of the new position of the intestines). Before that, soon after birth, she had some teeth removed that she had been born with..

Carmelina goes next week to have her first surgery to repair her lip. The second part of the lip repair will be in May and the palate will be repaired at a later date.

She’s going to have her arms restrained for a couple weeks after this surgery, which will be hard for her, as she really likes to suck on her fingers.

I hope to come back and flesh out her story better later, but I wanted to at least get something up, and now I’ll have something to add future updates to as they come.

I included this nice picture of Carmelina laughing a few days ago after being tickled by her Dad’s beard. One of her doctors before said that she could feel pain but not experience pleasure. I think this picture proves otherwise.