Family Experiences:
Austin Arditti, age 11
Greetings. I wanted to share my experiences with you thus far as a parent of a VCFS child. My son, Austin, was diagnosed at age two after experiencing gastrointestinal issues as a baby as well as an umbilical hernia and strabismus in one eye. He was a fussy baby and required a lot of attention. When he started speaking as a toddler, he was almost unintelligible. After subsequent speech evaluations, we decided on genetic testing. Although some parents may have felt relieved to have had a diagnosis, I was devastated. The anxiety about the present and future challenges was overwhelming. However, I could not stay in my shell for long, for there was far too much to accomplish to help my child soar in any area he could.I began working with him as much as time would allow and also enrolled him in speech and developmental therapies. Although mastering a task at hand took longer for Austin, he usually got it with a little extra practice. He began reading at age five well and was the best reader in his beginning first grade class because we worked with him so much. He started piano lessons at age five, and now at age ten is playing above what most ten year olds should be playing, according to his very accomplished music professor. Music has been his love from the beginning and gives him an area where he can excel and receive many accolades. He loves to perform at his recitals and for his class at school. We also enrolled him in sports from age three, and he is a good solid athlete. Although he is not usually the star of the team , he always contributes in meaningful ways and hangs tough. Soccer is his game of choice, and I feel it has contributed greatly to his coordination and gross motor abilities.
Following signs of attention deficit disorder, we put Austin on Concerta in the first grade. The medication has allowed him to pay attention in school, exhibit excellent behavior, and really soar to his abilities. I cannot say enough about how helpful Concerta has been to Austin's success. Although Austin is not the brightest child in his classroom, he probably works harder than most students and is responsible and very diligent. His teachers seem to really admire his great efforts with his work and his respect and kindness for other students. He was just elected as a student council representative for his fifth grade classroom, and he was elated. He is not afraid to try new things and often dives in before his twin brother who is not affected with the syndrome.
To date, Austin has had eight surgeries, including this past week when his palate was operated on for a second time. He is a trooper and takes what he has to do in stride. Although Austin is only ten and we have not experienced the teenage years yet, I have great hope for what he will do with his life. A parent of another VCFS child once told me that the challenges of these children are greater, but the successes are so much sweeter when you know what they have had to overcome to accomplish what they have. I wish I could tell you that I have no anxiety about the future, but that would be dishonest. However, I have hope, I have faith in Austin's determination to succeed, I have a tremendous love and respect for my child, and I have confidence in our teamwork as a family to allow Austin success in a multitude of areas of his life. Our geneticist, Dr. Vandana Shashi, told me early on that Austin's environment would account for 50% of his success. That is quite a large percentage of which I as a parent can contribute and make a significant difference. May we all as parents rise to our challenges and provide as many opportunities for success for our children as possible.
Austin enjoying the beach.
Vaughn Porter, Age 7
Our first-born child, Vaughn, was born in June of 1999. All was assumed well until his first visit to the pediatrician. She asked me if anyone at the hospital had mentioned a heart murmur. No one had. The pediatrician indicated that she could detect a murmur, then gave me the statistics on the number of children born with them and, of those, the number that spontaneously repair, which was encouraging. She recommended that we wait until his one-month check-up to see if further evaluation was necessary. I left the office without an inkling of what was to come, comforted by the statistics.
At the next visit, the murmur was being referred to as a congenital heart defect. I much preferred the more benign sounding heart murmur. We were referred to a pediatric cardiologist. Tests showed he had two holes in his heart (an Atrial Septal Defect and a Ventricular Septal Defect). The cardiologist suggested we wait one month to see how Vaughn fared. Medication was recommended to help his heart pump more efficiently and to minimize the fluid buildup in his lungs. Despite the medication, Vaughn began to have congestive heart failure. At three months and one week old, open-heart surgery was required to repair the holes in his heart. Without the procedure, he would not have lived past his first birthday. The surgery was a complete success. He smiled for the first time the day we got home from the hospital. We joked that the surgeon had implanted a smile while fixing his heart. In reality, prior to the surgery, Vaughn had no extra energy to smile; all effort was focused on keeping his heart pumping.
Vaughn's next 18 months were filled with ear infections, bronchitis, pneumonia and, seemingly, every other childhood illness possible. After a set of tubes were placed in his ears, visits to the doctor finally began to slow. He learned to crawl and walk within the normal time frames. He loved to be read to and his vocabulary was growing everyday. When Vaughn was 23 months old, he was joined by his brother, Quinn.
At the two-year check up, I mentioned to his doctor that his speech had an odd tone to it. I wondered if all the ear infections had damaged his hearing and possibly affecting his speech. She concurred that his voice had a nasal sound to it and referred me to an Ear, Nose and Throat doctor. Upon examining Vaughn, the ENT doctor declared that Vaughn had a velopharyngeal insufficiency (VPI), which means the tissues of the palate and pharynx do not close properly. Little did we know that this would be the first of many big words that would be added to our vocabulary. The ENT sent us off with nary a word about what this condition likely meant. Once home, I searched the internet for more information about VPI. Almost every thing I found linked the VPI and heart problems to a syndrome called Velocardiofacial Syndrome. I called the pediatrician that same day and told her of the ENT findings and what I had found on the internet. I asked if it was likely that Vaughn had the syndrome. After a little of her own research, she felt a visit to a geneticist was definitely in order.
The geneticist confirmed the diagnosis of VCFS. She knew by looking at him that he had the syndrome but confirmed it with a blood test anyway. My husband and I were also tested but, as in most cases of 22q11 deletions, Vaughn had a spontaneous one. Neither my husband nor I had the deletion, which meant the possibility of Quinn also having the deletion was unlikely. It took a while for the reality of the diagnosis to sink in. Reading the list of possible manifestations was terrifying. Taking our two-year old son to specialists to eliminate other possible manifestations seemed never-ending. Trying to identify, understand, and address all the potential problems associated with the syndrome was overwhelming. It seemed as soon as we got one issue under control, another one presented itself.
His immune system did not work quite as it should; a cold would turn into pneumonia frighteningly fast. We think his immune system has finally begun to function properly. Last winter we only had a few colds and one bout of bronchitis. I never imagined I would be thrilled with bronchitis! His pituitary gland is too small to produce enough growth hormone to support normal growth. Vaughn now gets an injection of growth hormone every night. In addition to helping him grow (six inches in 15 months), his gross motor skills and overall stamina have improved with his newfound strength. His VPI was repaired at age four and there is no hypernasality in his speech now. His tonsils were removed at age six to reduce snoring and sleep apnea. His muscle tone and fine motor skills are improving. That being said, he still has some difficulty controlling the saliva in his mouth, causing him to occasionally drool. He also has significant tracking and convergence issues with his eyes. We are starting vision therapy to address these problems. Ultimately, our team of doctors/specialists includes a cardiologist, immunologist, endocrinologist, geneticist, palate repair surgeon, speech therapist, occupational therapist, and pediatrician. Because of our many visits to doctors and hospitals, Vaughn has developed a strong dislike of both. It now takes considerable cajoling to get him to either one.
Our most recent struggle has involved school. Vaughn was diagnosed with Attention Deficit Hyperactivity Disorder (ADHD), which is common in kids with VCFS. He is taking medication and it has helped alleviate some of the frustration Vaughn is experiencing in school. We are confident he can succeed in school once all the tools are in place to support him. As Vaughn gets older, it seems that the multitude of visits to doctors has slowed, only to be replaced by tutors and therapists.
We consider ourselves fortunate that Vaughn was diagnosed at a relatively early age. After the sheer terror we felt initially, the knowledge that came with the diagnosis helped to explain so much. It has allowed us to identify and address issues quickly. When Vaughn began school, we were able to tell his educators where he was likely to have problems, so they could watch for the signs. I can only imagine what our lives would be like had we not known why all these things were happening.
We have learned not to let the diagnosis of VCFS control our lives. Vaughn has friends, plays sports, is learning to ride a bike (a tougher task than for other kids, it seems), is reading at above grade level, and is currently fascinated by sharks. He is a loving, smart, determined, and courageous boy who we are confident will mature into a confident loving, smart, determined and courageous man, which is enough to make any parent proud.
Vaughn at age 7.
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