Rare diseases

[Happiness]

Thought I would start this Discussion. Yesterday I had a transfer for someone that has been diagnosed with Erdheim-chester Disease. I was told this was a fairly rare condition, I got alittle info from the nurse but not enough to probably ever remember it. Now I have to say when I was passing this pt off to the medivac crew and it was mentioned that she had this condition WOW this girl went on about it. What the hell are they teaching in the new paramedic course, maybe I should go again

http://www.med.harvard.edu/JPNM/TF00_01/Oct3/WriteUp.html

So here is a discription of the syndrom and i thought it would be educational for us all if everyone can post a rare condition they have come across in their career.

[Cookie]

I have a friend with LBD Lewy Body Dementia, although not exactly rare, it is particularly hard to diagnose. Unfortunately my friend is to the point of hospice care.

What is Lewy Body Dementia?

Lewy bodies are abnormal microscopic protein deposits in the brain that disrupt the brain's normal functioning causing it to slowly deteriorate. The effects include a degradation of cognitive functioning, similar to Alzheimer's disease, or a degradation of motor control, similar to Parkinson's disease. Lewy bodies are named after Frederick Lewy who first observed their effects

Lewy Body Dementia can start differently in people. Sometimes those with LBD initially have a movement disorder that looks like Parkinson's but later they also develop dementia symptoms. Others have a memory disorder that looks like Alzheimer's but they later develop hallucinations and other behavior problems. Over time most people with LBD develop a spectrum of problems that include great variations in attention and alertness from day to day, recurrent visual hallucinations, shuffling gait, tremors, and blank expression, along with various sleep disorders.

Signs and symptoms of Lewy Body Dementia

The symptoms of Lewy Body Dementia will worsen over time. In general, LBD progresses at about the same rate as Alzheimer's disease, typically over several years. Many of the symptoms of the disorder bear a striking resemblance to Alzheimer's or Parkinson's. Despite the overlaps, however, there are symptoms that indicate the disorder is indeed LBD and not other dementias and the difference is important.

Signs of Lewy Body Dementia

• Mental decline. Lewy Body patients may experience reduced alertness and lowered attention span.
  
• Recurrent visual hallucinations or depression. Hallucinations, usually related to people or animals, occur in most LBD patients. Depression is also common.
  
• Increasing problems handling the tasks of daily living. Tasks that used to be simple may become difficult for a person with Lewy Body Dementia.
  
• Repeated falls and sleep disturbances. This includes insomnia and acting out dreams.
  
• Fluctuations in autonomic processes. This includes blood pressure, body temperature, urinary difficulties, constipation, and difficulty swallowing.
  

Parkinson’s, Alzheimer’s and Lewy Body Dementia

Since Lewy Body Dementia is commonly misdiagnosed for both Parkinson’s and Alzheimer’s, it is helpful to understand how these diseases overlap.