Tuesday, July 11, 2006

New week, new diagnosis!

Quick update, Sophie came home from the hospital on Saturday, July 1 full of smiles. Since then, we've been working with the docs to find the next steps. So we left off on Sophie's condition with a preliminary diagnosis of a benign ganglio neuroma. An awesome finding, but that still left us with the puzzle of her symptoms. Last week we saw the chief of pediatric neurology at Children's hospital for an other opinion, and also met again with the oncologist for a review and look forward. I think we now have a plan!

Diagnosis: Opsoclonus Myoclonus syndrome (OMS)

We have been referred to the leading specialist in the country, and possibly the world, in this very rare disorder. He and his practice are located in Springfield, IL, at Southern Illinois university. It seems that OMS could be a residual effect from the tumor. Although we do not have the complete pathology and biology studies on the tumor biopsy, we do know that at some point it was growing as it attached itself quite firmly to her aorta. While the tumor was active, it was most likely a ganglio neuroblastoma, which has symptoms very much like what Sophie has been presenting. It appears that Sophie's very efficient immune system made haste of the tumor and effectively shut it down before it could develop further (only speculation at this time, but an interesting theory nonetheless!). The reason she still has difficulties walking seems to be due to what the specialist in IL calls 'friendly fire.' Her immune system cannot tell the difference between the tumor cells and specific brain cells and has continued to try to eradicate the 'invader' that is actually good stuff that controls her balance, eye movements, and speech. There is a great article on the OMS site "Friendly Fire" that explains the situation much better than I can. http://www.omsusa.org/pranzatelli-friendlyfire.htm.

So, in order for a definitive diagnosis, Sophie and I will travel to Springfield July 25th for a spinal tap that will serve for both diagnosis and will aid in setting a treatment plan. There are several options, but we will not know what road to take until Dr. Pranzatelli has a chance to see her in person. The good news is we can get the treatment locally at Georgetown/Lombardi and not in IL.

We have been preparing for another test this Wednesday, a nuclear test called a MIBG, that will determine if Sophie has other instances of the ganglio neuroma or other forms of tumors elsewhere in her body. We do not anticipate that this will be the case, but this has been one surprise after another, so we're not overly confident! In addition to the initial and intermediate benign finding of the tumor, they also did a bone marrow biopsy the same day and it was negative as well. Things are definitely looking good. The side-affects of OMS and it's treatment are apparently difficult, but the treatments are usually successful in putting it into remission. As we always say, this to shall pass! Thanks for your continued prayers and good thoughts! We love you all!

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