A special guest blog from Joan and Denise Bonardi–a mother/daughter pair that talk about the struggles of living with VCFS.
The very first symptom of VCFS showed up shortly after birth. Denise had a difficult time with bottle-feeding...she often regurgitated the milk through her nose and mouth. I had to feed her slowly and in an upright position to regulate this problem.
When she began to speak, she was unable to pronounce consonants...thus "daddy" became "nanny". At the same time, when she walked about the house she would constantly walk into the door frames...never seemed to be able to go straight through the doorways.
During this time, the speech difficulties began to cause Denise to stop talking to anyone in the family besides her sisters and me; everyone else would ask her to repeat what she had said, or they would ask me what she said. Our pediatrician thought that this was "baby" talk.
One day we were at the pediatrician's office and Denise and her sisters were standing at the nurse's desk. I insisted that the doctor listen to Denise's speech because I knew that she was talking in complete sentences. After he REALLY listened to her, he agreed...and recommended that I take her to a speech therapist named Mrs. Balaban.
After Mrs. Balaban tested Denise, she told me that she had one other girl who was 6 years old and who had displayed the very same symptoms. She and her mother had visited 27 other doctors and none of them recognized the symptoms except Dr. George Crikelier. He was head of the soft palate clinic at Columbia Presbyterian Hospital's baby clinic; and as it turned out, he was the only doctor in the country who was studying this "problem".
We found out Denise's soft palate was paralyzed and she needed surgery to enable her to speak clearly. In the spring of 1964 he operated and the surgery was 100% successful..."a pharyngeal flap" it was called. After doing other tests, he told me that Denise's I.Q would probably range in the low normal area, and that this problem could have been caused by a fall, or a high fever, maybe by a birth difficulty...the medical profession had not yet discovered genetics in those days.
During her school years, Denise was given many IQ tests and it was discovered that she was unable to think abstractly...she was given special assistance with the math teachers until 9th grade when the teachers told me that they could go no further with her in math. It was also discovered that she had a hearing loss; but because it stemmed from nerve problems a hearing aid has never been recommended.
There were instances of teasing during the school years, but in spite of the other students' unkind comments, she was able to make the honor roll each year until she graduated high school.
She attended lessons in floral arrangement at a nearby florist; however because of the slight recession at that time she was unable to find employment in this field. She did find great success as a cashier in grocery stores; and was employed at the last one for 10 years until it went out of business.
Now I will end my part of her biography...After the grocery store closed, I became very depressed and my family doctor suggested I see a therapist. The way they fired everybody was terrible--they did it two weeks before Christmas. Everyone including me had to go on unemployment, which is depressing in and of itself. After working for so many years makes you feel useless and degrading--at least that's how I felt. My moods were getting worse because of my depression, and my sister and family noticed also. My sister Annmarie had happened to come across a website about VCFSm when she noticed I had a lot of the facial descriptions and a lot of the problems.
In 2012 we went to see a neurologist; Dr.William Johnson of Robert Wood Johnson Hospital in New Jersey. He examined me for a good hour and sent me for Genetic testing. Sure enough, it came back abnormal. The abnormal results made me more depressed because I finally had a name for all the problems I had growing up. VCFS: Velo-Cardio-Facial Syndrome. Also known as DiGeorge Syndrome and 22 deletion. There is no cure. There’s a lot of medication to help you cope with the syndrome and therapy. I also cannot work or drive anymore which is difficult, but my abstract thinking is worse because of my VCFS. I cannot predict what the other person is going to do so would I rather be safe than sorry. A lot of my doctors also did not even hear of VCFS. So, in a way I became their teacher and hopefully a lot of people will get tested early as more and more doctors learn about this syndrome.
I’m still having therapy but am starting to feel a little bit better about myself. There’s still a lot more to cover. Do not get discouraged with this syndrome--as more and more people learn about it the better off we will all be.