Jessica Aufman

Welcome to Jessie's Web Page. It has been provided to help keep all of our family and friends updated on her progress.

In March 2005, Jessie was diagnosed with MPS III (Sanfilippo Syndrome). MPS III is an inherited metabolic disease caused by the absence of an enzyme needed to break down long chains of sugar carbohydrates in each of our cells that help build bone, cartilage, tendons, corneas, skin, and connective tissue. There is a continuous process in the body of replacing used materials and breaking them down for disposal. Children with MPS III do not produce enough enzymes required to break down complex sugar chains into proteins and simpler molecules. Over time, these sugar chains collect in the cells, blood, and connective tissues. The result is permanent, progressive cellular damage that affects the individual's appearance, physical abilities, organ and system functioning, and mental development. Children with MPS III usually have a life expectancy of 10-12 years.

In June of 2005, Jessie was given an opportunity for a better life by undergoing a stem cell transplant at Duke University Medical Center. Although this is not a cure for MPS III, we are hopeful that it will improve Jessie's quality of life and extend her life expectancy.

Journal

Thursday, September 1, 2011

It is hard to believe that it is September already. We have all enjoyed the relaxed schedule of summer and I am not looking forward to getting back on the school schedule! Dylan is looking forward to starting kindergarten next week, and I know Jessie will be glad to see all her peeps at school, but I am always a little sad to see the summer end -- at least until I remember how nice it is to have some kid-free time each morning!

Jessie is doing well and is as happy as ever. We just celebrated her 9th birthday with chocolate cake in the dark due to Hurricane Irene. She has had some difficulties walking lately and we aren't exactly sure why. We are trying a new brace to help with her gait. It will hopefully reduce the amount she seems to trip over her own feet. We seem to have the seizure activity under control and, with a recent increase to the meds, we hope that they may become a thing of the past (at least for now).

Jessie may seem a little less connected, but she often responds with big smiles and laughter when Dylan, Matt or I get right in her face. Maybe we have to get a little closer than we used to, or talk to her a little louder than we used to, but she shows pure joy when she knows we are around. I can't imagine losing this. I know children who are further along on the Sanfilippo path and I see their loss of recognition. I see them smile less. I can't even imagine losing my daughter's fabulous grin and silly giggles. I know it will happen one day, but I don't think about it. And I do a pretty good job making it day-to-day -- happy to have her smiles light up my day.

Sometimes, though, it's impossible to keep that prognosis out of the front of my mind. Yesterday, news swept through the Sanfilippo community of a sweet 9 year-old girl who passed peacefully in her sleep the night before. I did not know the child or her family, but my heart sank for them. I figured she must have had some kind of underlying condition and must have been declining for some time. When a friend told me that wasn't the case, it was terrifying. I have an expectation in my head that helps me get through Sanfilippo and this just does not fit!

It has been a rough year in our Sanfilippo community. A lot of children have passed. Some declined slowly, as you would expect and the end could be seen as a release from the final stages of this horrible disease. But a few passed without warning. All of their families were left with a gaping hole but, for the ones that had no time to prepare, I can only imagine the shock that must accompany the hole. And I can't seem to fit that into my day-to-day life.

*Photo by Cary Davis

Read Journal History

Hospital Information:

Duke Pediatric Bone Marrow and Stem Cell Transplant
We're discharged and HOME!!

Links:

E-mail Author: cjcornish@yahoo.com

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