10 Questions: What Is VCFS?

Velo-cardio-facial syndrome is the second most common genetic disorder after Down Syndrome, and probably the least known.

USA Today reports that "more than 180 symptoms can be associated with VCFS, including learning disabilities, developmental delays, psychiatric disorders, immune disorders, congenital heart disease and cleft palate."

(USA Today)

I had a heart defect (ventricular septal defect) and had surgery to repair that. I also had surgery for an inguinal hernia, an undescended testicle and tonsillectomy. I had three surgeries for ear infection, and had a compromised immune system which led to constant pneumonia and bronchitis. I had epilepsy (and later had gum surgery twice to repair gum growth due to the medication. I had a speech defect, severe hoarseness and hypernasal speech for which I had had two surgeries (and later two more) I had ringing in my ears (tinnitus), leg pains, minor scoliosis and minor facial asymmetry. I had a partially collapsed lung, a paralyzed vocal cord, severe migraines for which I had to be hospitalized, calcium deficiencies, malformed bones in my feet (for which I had surgery) life threatening allergies to bee and wasp stings, irregular blood flow to the brain , Wenke-Bach syndrome (a heart valve problem) and muscle control problems. I also had severe learning disabilities which included ADD, dyslexia, audio processing problems, short term memory loss, no sense of direction and no concept of time. I had severe mood swings and suicidal depressions. Aren't you glad you asked? Oh, and by the way, I surf, snowboard, play tennis and golf.

2. What was your reaction to all the doctors who didn't seem to understand what was happening to you?

I was frustrated, scared and angry.

3. Was it scarier not knowing what the problem was—or actually being diagnosed with VCFS?

It was scarier not knowing because I had no idea what would be next. I felt very relieved to know because after I knew what I had I could work on it, control it better and the doctors would have a better understanding of what I was suffering from.

4. The National Institutes of Health estimates that VCFS afflicts 130,000 Americans—the second most common genetic syndrome after Down—but couldn't that number actually be much higher because so many aren't diagnosed? And what can be done to put more people in touch with the doctors who will give them the right care?

Dr. Shprintzen thinks that there are probably more like 180,000. The mildest and the most severe cases are the hardest to detect. This syndrome is pretty new so a lot of doctors don't really know about it and they don't have have a lot of experience with genetics. This is what Dr. Shprintzen and his research Center is Syracuse is trying to be a resource for people. Especially after making this documentary, I have more of an understanding of the syndrome than I did before I feel that by speaking out I can help people get the care they need.

5. You've made a movie about VCFS that premiered this week in Washington. What's the message you'd like viewers to leave with?

That it's possible to live with such a difficult syndrome and how everybody should be optimistic about the future.

6. We know that VCFS occurs when certain genetic material is missing from chromosome 22. But what does chromosome 22 do?

Individual chromosomes don't do specific things. They are structures that have genes strung along them. Chromosome 22 may contain up to 4% of all of our genes and there are a number of genetic diseases including VCFS that have been isolated to chromosome 22.

7. What are the most common treatments for VCFS—and what are the treatments you're using? To what extent are they allowing you to live a "normal" life?

There are 180 possible clinical findings associated with VCFS. You can heart surgery for heart defects and throat surgery for those defects. But you have to have different treatments for each person depending what their problems are. like speech therapy, antidepressants or epilepsy medicine.

8. How expensive is it to treat VCFS? Is there help out there for people who can't afford those costs?

It can be really expensive because there are so many things that can go wrong. In most places it can be covered by Medicaid, Social Security or the physically handicapped programs. But if more people knew about it would help because we could raise more money for treatment and research.

9. Is VCFS preventable in any way?

No. But the research is concentrating on to helping prevent the psychiatric, behavioral and educational problems associated with VCFS.

10. What's next for you—now that this movie is done?

I would like to become a well known documentarian. Both my grandfathers were football players and so our family motto in life is "nose down, ass up, push forward."