lauren's space

 Pediatrician                                                 Speech Therapy

She was a very quiet baby and seemed to be doing well. Her pupils would constantly bounce sort of twitching from side to side, but the pediatrician said she would outgrow that. Also she would fully extend her arm and make little fists and shake her arms for long periods of time several times a day. This was attributed to exaggerated startle response, once again nothing to be concerned about.

The night before I returned to work this quiet well mannered little girl turned into a screaming hyenna. She screamed all night long, the entire car ride to grandmas and the entire way home from grandmas. Two days of this was enough for me, so we got her in to see the pediatrician on May 2, 2006; never suspecting that would lead to five days in the pediatric ICU.

First doctor that came to see her was a pediatric neurologist, he started her immediately on phenabarbitol and ordered and mri. Well the MRI showed she has an underdeveloped brain(about 32 weeks gestational age). The pupils bouncing is Nystagmus and the shaking is tremors/seizures. So five days later we take her home on dilantin and keppra(two seizure meds). Eleven days later we were right back at the ER because she had been having back to back seizures all day long. From Lutheran Hospital in Fort Wayne she was transported to Riley Childrens Hospital in Indianapolis. At this time she already had an NG tube in place for feeding because she was so sedated to try and control the seizures and she had also lost her coordination to suck.

While at Riley she had a g-tubed placed, a supraglottoplasty(severe larynomalacia) and they found that she had a right side diaphragmatic hernia(her liver was in her chest cavity) and also that her windpipe is oddly shaped. We left Riley on June 21, 2006 with an apnea moniter and oxygen and no clue as to what was wrong with our little girl. All the tests they had run showed nothing abnormal.

On October 17 the pediatric surgeon in Fort Wayne repaired her hernia. Several more trips to the doctors at Riley and still nothing. We were pretty much being told the she would not live long. I think that was because they had no idea what was wrong with her. That is when we decided to take lauren to Dr. Bader(genetic counselor) in fort wayne. Her first appointment was on May 10, 2007 and by August 7 she had made the diagnosis of Pallister-Killian Syndrome. All because she did the one test, a skin biopsy, that no one else had thought to do. Finally Lauren's "death sentence" given to her by other doctors had be denounced.