Lifestyle survey results

5 of the 52 patients say symptoms have improved over time, while 32 say symptoms have gotten worse and 15 say they have stayed the same.

16 of the 52 patients frequently miss work or school because of symptoms, while 26 occasionally miss work or school. However, 10 never miss work or school because of symptoms.

28 of the 52 patients say CPT deficiency occasionally curtails their social life. 20 say it is frequently affected, but 4 say it is never affected.

26 of the 52 patients say that family members occasionally assume responsibility for tasks they would normally perform themselves. 11 say family members frequently assume responsibility for tasks normally performed, while 14 never need help from family members.

12 of the 52 patients say the cost of their medical care restricts their lifestyle.

Comment: “I am glad someone is looking into this rare disease. I just wish there were a break in the pharmacy prices and doctor bills.”

21 of the 52 patients say CPT II deficiency affects their ability to hold a job. In addition, 20 say their ability to drive is affected, 23 say their ability to shop is affected, and 25 say their ability to travel is affected.

Comments: ”I have had difficulty controlling attacks. I quit my profession which was stressful—being at home has helped.” “I quit my job as a nurse after being hospitalized in 1996.” “As a very active person, I find that my life is often affected by CPT deficiency. With less activity, I’m sure I would be less affected.” “Shopping and driving is only affected in terms of shorter length of time. My ability to travel long distances, such as overseas, is significantly affected.” “The biggest restriction for me is in travel. It’s hard to leave the country when I don’t know if they’ll have doctors available if I need them. Even within the U.S. it’s difficult because of food issues.” ”MDA said I should use a wheelchair whenever I go out to help conserve energy. Before I used the wheelchair, whenever I would go out with my family I would have to come home soon due to exhaustion. Last weekend my husband and two kids wanted to go to Toys R Us and I was able to go in the wheelchair and let them take their time looking around and having fun.”

17 of the 52 patients report a change of occupation because of CPT II deficiency.

Comments: “Had to quit my present job. Can’t stand on my feet for long periods of time.” “CPT deficiency has caused me to change my university course. I am really only looking at part time non-physical work rather than full time work. Overall, CPT deficiency has had a huge impact on my lifestyle and changed my life completely.” “I was a teacher for 24 years and had to quit.”

Only 1 patient moved to another climate because of CPT II deficiency.

26 of the 52 patients never participate in sports, but 11 participate frequently and 15 participate occasionally.

Comments: “I enjoy hunting, which involves a lot of walking, so I have to be careful not to over do it.” “I won’t go on a long hike for fear I will become achy.”

“Minimal exercise routine, no more than 20 minutes.” “No organized sports, 20-30 minute walk for exercise.” “When my muscles are sore to the point where it hurts to walk, any activity is limited.” “I’ve cut down on running.” “I can’t exercise without pain.” “I used to mountain climb but now I quit. Swimming no more than 15 minutes.” “Sometimes I stop skiing early in the day as my legs start to feel ‘weird.’ I used to bicycle 6,000-7,000 miles a year for 10 years.” “I used to play ball in high school, used to pitch and play second base. Both were very hard on me but I did it because I loved the game of baseball. I used to be the fastest runner on my team, but now I can’t run as fast as I used to. I can’t even stand long enough to play a game of pool at the billiards. I can shoot a couple of times, but then my legs start to hurt and I have to sit down. I found that CPT II is a very difficult disease to handle, but I know that someday I will prevail and I will win against this disease. I know that I will be the winner and not CPT II.” "I am able to do all sports unless I am having an acute attack, which I have only had once." "Was involved in wrestling and martial arts." "Walking the course in golf is a problem. I must ride a cart or I won't make it." "I had to cut back, but refused to cut out. I still enjoy snow skiing and working out, but must monitor myself and be sensitive to what my body tells me and what is enough." "Biannual at best, bowling or softball, very relaxed and with planning. Although I bike, again, with a lot of planning, and not more than 5 miles. I quit track in the 8th grade. I'm now 34 years old."

"Although I do experience significant muscle cramping after physical activities like volleyball, etc., my pain seems to be quite minimal in comparison to that of other people I have read about. Since my diagnosis I have tried to avoid many of the activities that produced the more extreme cramping and discoloration of the urine. I find that drinking lots of water when I go dancing and avoiding alcohol has helped alleviate some of the pain."

Table 1: Kinds of exercise that CPT II deficiency patients participate in
Exercise	Number of patients
walking	5
tennis	2
swimming	2
hockey	3
soccer	2
running	3
baseball	2
golf	3
hunting	1
mountain biking	1
aerobics	2
cross country skiing	1
racquetball	1
basketball	2
dancing	2
paragliding	1
snow skiing	3
bicycling	2
speed walking	1
weight training	1
curling	1

Table 2: Kinds of exercise that CPT II deficiency patients say is restricted
Exercise	Number of patients
hiking	6
basketball	4
tennis	3
hockey	2
soccer	3
running	6
cross country skiing	2
hunting	3
golf	2
mountain climbing	2
football	2
cycling	4
skiing	1
bowling	2
baseball	4
rugby	1
cricket	1
volleyball	2
fishing	2
swimming	3
dancing	2
pool	1
martial arts	2
wrestling	1
water-skiing	1
fast walking	1
cheerleading	1

Thanks to all who participated. To read the original survey questions, visit the survey page.