First Lupas, then MS, then Cancer. Just Kidding – You Have Adult NPC!
Niemann Pick Type C is generally referred to as "Childhood Alzheimer’s" disease but apparently in rare cases there is adult onset NPC. Yesterday, I exchanged emails and phone calls with Jennifer Field, a 34 year old former nurse and happily married Mom with four beautiful children, who was diagnosed in November 2007 with NPC.
This whole Niemann Pick Type C nightmare is getting more insane by the minute! I am now convinced that NPC and Alzheimer’s are closely related and NPC is not as rare as everyone seems to think it is — it must be going misdiagnosed. Over the past two years, Jennifer was misdiagnosed with Lupus, MS, and even cancer and now she is facing the biggest battle of her life: the war on Niemann Pick Type C disease. Please take a moment read Jennifer’s story.
Jennifer Field: A Mom’s personal battle with NPC:
I have not yet met any other adults with NPC disease. I can’t imagine having to watch one of my children go through this illness. I am, however, having a hard time looking at my family knowing that it is likely that I will not see proms or my grandchildren. My husband is having a hard time trying to care for me and the kids while trying to cope with his own feelings. Over the last 18 months or so I have gotten ill enough that I am no longer able to work. I seem to have serious memory problems, twitching, short term memory issues, rashes, eye movement problems, upper respiratory difficulty that never goes away and horrible migraines. The migraines are the worst. Nothing helps. I have tried with my doctor several medications and narcotics, and nothing works!
I also don’t sleep correctly anymore. It seems that my brain just can’t shut down. I will go 3 or 4 days without sleeping at all, then spend 2 days sleeping. I guess my world is just unpredictable now. I was told by Cedars Sinai that there are no research studies available right now, they just tell me that I need palliative care. I would love to participate in anything that will prolong my life. I was diagnosed after they found sea-blue histiocytosis in my bone marrow. I also have the normal (for NPC) calcification "sprinkling" in my brain along with larger calcifications in my parietal, temporal, and occipital lobes. I have some frontal lobe thickening, and they said that those results were conclusive, but that they suggest the advanced stages of the disease.
My speech is slurred when I am cold, drowsy, or sometimes for no real reason at all. The migraines are matched with the feeling that my head is shaking. Sometimes I can’t keep my eyes open because it looks like an earthquake is happening all around me. I have fluid retention issues, and my gait is different some days. Other days I am free from any symptoms at all, but mostly I have symptoms every day. Starting IV’s and being able to handle patients is not really feasible anymore due to hand tremors. I am losing my drug knowledge and I don’t really trust what I know to work in such an acute setting anymore.
I am ready and willing to fight!