Interview

On Wednesday, February 11, we conducted a phone interview with Dr. Lorraine Edwards, a neurologist from Hastings, Nebraska who practices at Central Nebraska Neurology. She is very well informed on Huntington's Disease and has seen and treated the disease first hand. The interview was very helpful in furthering our understanding of HD. The following is the transcript of the phone interview:

1. Why did you choose this field?
In Med School, she was in a summer research project that dealt with Huntington's and really enjoyed it, so from them on she decided to push Huntington's.

2. Do you have any accounts of patients with HD? Any interesting stories?
Yes, Huntington's disease(HD) is quite variable, she has seen cases of it in 40 year olds as well as people in their 70's and 80's. One man who had HD developed it when he was young, but he loved to play the guitar. He had a great deal of trouble walking but could still play his guitar. When he could no longer hang onto the guitar, he was brought a keyboard so he could still play the music, even though he could hardly walk or talk. Another gentleman couldn't walk or drive but could still ride his bike, which he really enjoyed doing. This was his means of transportation, although he had difficulty stopping and starting. Often times people don't find out they have HD until they are older and many times they have already passed it onto their children. One woman had HD all throughout her family. She got married and had a baby, and at age 44 developed symptoms of HD. When her husband realized the onset of the disease had started, he took their six year old child and abandoned her. She progressed quickly and could not walk, and it was later found out that HD was not only present in all her sisters but also her father's family. Another story occurred when a parent and a child both had HD and were experiencing symptoms at the same time. The child had worse symptoms because of anticipation. The child's symptoms were more closely resembled Parkinson's.

3.Why should a doctor studying HD know about evolution?
Because of the different nature of the way the gene is affected/expressed in each generation is different. It becomes worse with each passing generation. Natural selection has not been seen to play a role in the elimination of the disease because most individuals find out they have the disease after child-bearing years.

4. Why should they know about protein misfolding?
Because it is the misfolding of proteins that leads to the development of the disease. The first step in finding a cure is making a correction in the error of folding.

5. How important is the search for a cure?
Very important, a cure should be found soon because we have already established the exact location on chromosome 4 where the problem lies. They are very close to finding a cure for the genetic mistake that causes the disease.

6. What do you think about using grid computing in this search?
Not sure

7. What misconceptions exist about HD?
People with HD often die early and their children do not know they have a 50/50 chance of getting the disease. Especially in the past, many families will keep the disease a secret. They feel it is easy to sweep the issue under the rug rather then be upfront and honest with their family history. Doctors are not allowed to pass on the information to the children of their high risk. All doctors can do is recommend family counseling.

8. What are the symptoms of HD?
Chorea-movement disorder-develops from a mild disorder to inability to walk, many often end up in wheelchairs
Slurred speech, difficulty swallowing (some patients have a feeding tube), depression, paranoia, dementia

9. From the time the symptoms start, generally how quickly do they progress?
People who develop symptoms of HD in their 60's and 70's have milder symptoms for a longer time frame. They can live for up to 20 years living a normal life after they have discovered they have Huntington's. Normally though in the first 5-7 years jerky movements associated with the disease become more pronounced. After 10 years many patients then start to experience the dementia phase, although on average they experience less dementia. Those who develop Huntington's at a younger age, around their 40's, develop the symptoms much faster and to a higher degree. The jerky movements will become very strong and the onset of dementia normally occurs in less then 10 years and is very severe. Most of these types of patients die within 10 years of diagnosis.

10. What actually causes the death of HD patients?
A person with HD will often die of pneumonia or other respiratory complications due to the inhalation of saliva or food that gets trapped in the lungs and develops an infection.

11. How many cases of HD have you seen? Is it common? Has it become more popular?
It is very rare, in 15 years seen a dozen cases/worked on in Nebraska as well as Rochester, NY, has not become more common in that time period.

12. Are certain regions more likely to develop this disease? Does gender effect it?
Certain regions in the United States have not been more prone to it. Gender does not affect it because it is an autosomal disorder.

13. What do people do to treat their symptoms?
Medicines can be taken to tone down the movements, treat the depression, which is often portrayed by anxiety or OCD, and control the drooling that can occur. People with HD are most often in wheelchairs.