October 13, 2005
Since Emily was diagnosed with SMA on August 26 we have been planning how we are going to approach her care. You see, every SMA baby is different in how they react to the sometimes very irritating therapies and treatments. Linnea was very tolerant of the treatments and seemed so content no matter what was going on. Emily has already shown us a great deal of frustration with her failing ability to move like she seems to want to.. like we all want to. When we take her out of her car seat and pull on her arms a little, as if she were stretching, she gets that funny pleased look on her face. The kind you'd see yourself making if you could see your first stretch of the day. Pure bliss! She cannot do it on her own, so we do our best to help her stretch when she looks like she needs it.
Our latest struggle has been to find a team of doctors to perform a Gtube/Nissan surgery on Emily. The Gtube, feeding tube, will allow us to continue feeding Emily because her swallowing ability is failing fast. The Gtube will also allow us to vent Emily's stomach when we use the cough assist machine which helps us maintain her pulmonary health to a degree. The Nissan fundoplication is a surgical wrap around the top sphincter muscle of the stomach that helps prevent potential reflux problems. If an SMA child refluxes they are at high risk to aspirate and die quickly. Although there is some argument about whether or not the Nissan is necessary in SMA kids, we, along with most doctors familiar with SMA, feel that the risks are too great to not get a Nissan along with the Gtube. This has caused some problems in getting the care we feel is best for our family and disagreeable and/or unfamiliar doctors have forced us to look as far as Utah for the care we want. Fortunately, we were blessed to find a team of doctors in Philadelphia that agree with us and we are scheduled for surgery on November 1!! That is a HUGE answer to prayer.
The other update is that we have been participating in a clinical trial with Dr. Swoboda in Salt Lake City, UT that involves infrequent visits to UT, and four doses a day of some pretty foul tasting medicine. We visited the hospital in SLC in early September and underwent some recording and sampling of Emily's abilities, blood, and neurological activity. We also offered our own blood for future testing. SMA I is caused by the absence of the gene that is responsible for stimulating the body's voluntary muscles i.e. leg, arm, neck, facial, lung, muscles.. etc.. The medicine we are trying helps stimulate the backup genes that have proven to not do their job very well. There has been a great deal of success with SMA II kids and we have seen some, be it minimal, improvement or maintenance with Emily's muscular abilities, but not enough to deal with her rate of growth. We are participating in this trial for the sake of future medical breakthroughs.
Well that is a long update, but I wanted to get some of that out of the way. Please pray that Emily's surgery will go well and that I will find a new employer soon so we can buy a home in the area. This will allow us to take care of Emily much more effectively b/c the electricity goes out in our present rented home quite often. More to come...