Survey as a LearningTool

At the Boston meeting we distributed some on-site questionnaires to test what we might be able to learn from each other, and what useful information we might be able to provide to ourselves and our physicians. Our goal is, as ever, to work toward improvements in diagnosis, treatment, and quality of life for all of us. Here are the results of the Boston On-

Site Survey

The goal of this section was to learn what was working best in reaching VHL families. Respondents were meeting attendees, not all of whom have VHL themselves.

How did you first hear about us? 12% heard about us from a doctor, 18% from a friend, 45% from a relative, 9% from a brochure, 9% from newspaper or magazine, 6% from the internet.

How long did you wait before contacting us? 46% waited a few days, 23% waited a few weeks, 23% waited months, 9% waited longer than that.

How did you first reach out to us? 69% reached out by telephone, 27% by letter, 4% by e-mail. We have seen a marked increase in internet contacts over the last year, and will be interested to compare the next round of results.

Then we asked a number of questions specifically to people with VHL. We wanted to compile their experiences of gaining a diagnosis. Of people with VHL, 37 people responded, ranging in age from 19 to 59 (average age 38).

How did you first learn you had VHL? (a) It runs in the family, so I knew I was at risk (37%); (b) Another family member was diagnosed so they checked me too (30%); (c) I was the first person in my family to get a diagnosis of VHL (30%).

How old were you when you had your first symptoms? Ages ranged from 9 to 59 (with a statistical mean of 19.2 years). 14% of those responding had no symptoms.

How old were you when you were diagnosed? Age at diagnosis ranged from 9 to 59 (mean=22). One man was screened until he was 50 years old, was told he could stop screening since he was too old to get VHL, and was subsequently diagnosed at age 59 with kidney cancer. One person still has no clear diagnosis though she has had multiple spinal tumors.

In 68% of the cases, diagnosis was made because of symptoms, while 31% of these people were diagnosed through asymptomatic testing.

What physician did you first go to with your symptoms? primary care physician (33%), neurologist or neurosurgeon (22%), ophthalmologist (27%), urologist (11%).

At first the doctors thought it was... (a) VHL (68%); (b) hypochondria (9%), (c) multiple sclerosis (4%), (d) sporadic brain tumor (18%). Other early misdiagnoses included random migraines, seizure disorder of unknown origin, sporadic pheo, polycystic kidney disease, dual retinal hemangioma (not VHL), and carpal tunnel syndrome.

Testing was ordered by the... primary care physician (43%), pediatrician (3%), ophthalmologist (7%), geneticist (7%), or only on the patient’s own insistence (2%).

These answers tend to indicate that about 68% of the time the system worked reasonably well. It also gives us some clues as to how we might provide some additional information to physicians which would shrink that 32%. The system will not work perfectly until there is a simple test for VHL, but some additional information on differential diagnoses could help physicians move more rapidly from these first impressions to a diagnosis of VHL.

Of the 25 women responding, 24% reported having cysts and 16% some sort of tumor (fibroids or other) in the uterine area. Cysts and tumors are so prevalent among women that it is difficult to draw any conclusions from these replies.

Of the 11 men responding, 78% reported having epididymal cystadenomas (epi cysts). While 11 is too small a sample to be statistically significant, this is a much higher percentage of penetration of epi cysts than reported in any of the literature. 44% of these men found them in their teens, 33% in their 20’s, and one in his 50’s. Half first discovered them himself, and half were first found by the physician (most of these at NIH). None of these men discussed this issue with a relative, all went to a doctor with their concerns. Half were dissatisfied with the advice given them by the doctor. 80% of those with epi cysts reported no blockages or other problems with them, one was infertile due to epi cysts. We are adding some information on epi cysts to the new handbook which we hope will be more helpful.

We hope that you will participate in surveys, and that you will share with us your opinions about the surveys themselves and how we can improve them. We are always interested in your feedback, positive and negative. Your participation is encouraged, but of course is always voluntary. The greater the number of people participating, the more meaningful the results.