Emily was born Dec. 27, 1997. At 9 lbs. 1oz, she seemed healthy, but we immediately realized something wasn't right. She wouldn't wake for feedings, and after having her home only one day, we were in the emergency room with her weighing a mere 6 lbs.
Every test imaginable was done, including a CAT scan, but the doctors couldn't find anything explaining her sleepiness and inability to eat. After a week, we were sent home, and told to follow up with our primary pediatrician.
Life at home turned upside down. If Emily wasn't sleeping, she was screaming. She had great difficulty feeding, and would normally vomit up what she did manage to get down.
After a battery of gastro tests, the doctors couldn't find anything wrong, so they assumed it was allergies, and put her on an imported formula that cost around $1,000 a month. However, the only way the insurance would cover the cost was if we let her starve on the other formulas, to the point of being hospitalized.
With no idea of what was wrong, we just stumbled through with her. She began speaking, then walking, and was soon complaining about pain in her legs, and her arms going "fuzzy". She had never slept well, and her nights were plagued with fits and screams.
The doctors began to think that perhaps it was Arthritis. Once again, the testing resumed, some of which was very invasive. They also did more gastro testing because of the vomiting and reflux problems. And, again, nothing could be found.
The pain and mood swings were then coupled with Emily falling or her legs giving out, and we were sent to the first Neurologist. He did massive amounts of blood tests, convinced it was something chemical. He refused to do an MRI because "her symptoms weren't consistent enough". When nothing showed up, he then suggested she was Bi-polar. Needless to say, we didn't go back to see him.
Our primary doctor was now looking at us like we were insane. Emily was a bright, cheerful girl, and in spite of her problems, he felt there was nothing wrong.
As more problems appeared, including an onset of seizure-like staring spells, we again sought out a Neurologist. This time, an MRI was ordered, and a Chiari Malformation with a herniation of 12-13mm and partial spinal fluid blockage was found. As strange as it seems, we were greatly relieved to have a diagnosis, and finally, some treatment and relief for Emily.
Her diagnosis was made in February 2002, and she had her decompression surgery in September 2002. At that time, her symptoms were extreme fatigue, pain in all limbs, numbness (or "fuzzies" as Emily calls it), headaches, vomiting, fevers, extensive periods of sleep, mood swings, staring spells, bowel and bladder accidents and long periods of uncontrollable crying, being incoherent during these spells.
At first, the surgery seemed to be a miracle, with most of her symptoms being relieved. But, as time goes on, her symptoms are returning, along with an increase in falling, and temporary losses of vision.
We are now consulting with a Pediatric Chiari specialist. He feels that her symptoms will continue to worsen, but at this time, doesn't want to surgically intervene.
In spite of everything she has been through, and her daily pain, Emily continues to be such a nice little person. She leaves a lasting impression on everyone she meets.
Since this story was written, Emily has had to have several other procedures performed, the latest being a shunt revision this past August 2004. All the shunts prior to this one have failed to maintain a manageable CSF pressure, so the last shunt is one that will have to be manually opened and closed in order to maintain a tolerable pressure. This is going to be quite an adjustment for both Emily and her parents, but at this point, it's their only hope of Emily living a near "normal" life.
However, while Emily was still in the hospital, recovering from this surgery, she began passing blood in her urine. She was referred to an urologist for this complication, but we haven't received a report as to how this is going. But, as for the shunt, it is working well.
Unfortunately, with many Chiari patients, these "complications" are quite common. Because of the pressure that is put on the brain, any part of the body can become "victim" to this condition.
- Karen Cullen, Emily's MomEmily
Since Emily's 2004 shunt operation she has undergone too many surgical procedures to count. She has had shunt revisions that did not work and she is now on her fourth shunt system. She was in the hospital every other month in the year 2005.
Emily's condition continues to not react to any treatment plan her doctors try. All her doctors are working as a team to try to "figure" Emily out. The complications , although rare, that can happen from Chiari pseudo tumor are a puzzle to medicine.
Foundations like Wishes and Rainbows are so important to achieve the goal of uniform treatments (that work) and enabling parents to have a forum to not only discuss treatment options but to have a network of support.
We will continue to lead Emily in her battle and she will continue to show us the power of grace.
Emily Update 4/2007
ok---when it rains.....
First off- Abby, Emily's younger sister, had her LP yesterday. Although her ICP was not "high" it was not normal. So- they are saying it is borderline abnormal. They drained about 9 of fluid from her- the thought is if she improves then we know that pressure level is too high for her and we should treat with high ICP drugs. If it does not work then go back to trying headache drugs. Either way she needs to be re-tested in four months to see if her pressure levels have risen- if they have then we have a significant problem. NOW the problem- Abby has not accomodated to the lower pressure and seems to have developed a small spinal leak... she needs to stay flat for at least 24-48 hrs in hopes that everything seals up...but it is very painful on top of her other pain....
Emily has been feeling well but....oh the but time- she has begun walking with her cain again- her leg has begun to not work again... this is a little concerning because she has begun to have significant levels of pain in her shunt area. We have contacted physical therapy for her leg issues in hopes it can be resolved- and will hold out on pressing any alarm bells. Sometimes it is just the shunt rapping around a nerve. We'll see...
