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Velocardiofacial Syndrome/
DiGeorge Syndrome

Velocardiofacial Syndrome Poster Child
Daniel Avram

Velocardiofacial Syndrome Poster Child
Keri Reigle

Introduction

Velocardiofacial syndrome (VCFS), also known as DiGeorge syndrome, is a disorder characterized by cleft palate, heart abnormalities, learning disabilities, and various other clinical findings. The name velocardiofacial comes from the Latin words "velum" meaning palate, "cardia" meaning heart, and "facies" having to do with the face.

The cause of VCFS is unknown, however it is the result of a deletion of the long arm of chromosome 22 (22q11.2 deletion). It is said to be an autosomal dominant disorder, which means that only one parent needs to have the gene to pass it along to their children. When one of the parents has VCFS, the chances of their children having the syndrome is about 50/50 for each birth. Research has shown, however, that VCFS is inherited in only about 10 to 15 percent of the cases. Therefore, in most cases, neither parent has the syndrome or carries the defective gene and the cause of the deletion is unknown. VCFS is the fourth most common birth defect and occurs in 1 out of every 700 live births. Currently, 1 in every 2,000 people is said to have the disorder. Estimates show that there are over 130,000 individuals with this syndrome in the United States.

The history of VCFS can be rather complicated. The first description of the syndrome was made in 1968 by Dr. William Strong. Since then, it was described by various other doctors and was given several different names including conotruncal anomaly face syndrome (CTAF), DiGeorge syndrome, Opitz G/BBB syndrome, and finally in 1978, it was identified as velocardiofacial syndrome. Since there are several diagnostic names for the disorder, many professionals now refer to patients simply as having a 22q11.2 deletion.

 

Features and Characteristics

VCFS has over 180 characteristics associated with it. Not all these identifying features are found in each child who is born with VCFS, therefore, the following are the more common characteristics:

 

Diagnosis

It is not uncommon for parents to have seen many doctors before a diagnosis is made. The initial diagnosis is typically based on the recognition of the collection or pattern of features commonly seen in those with VCFS. Most cases have been identified through the cleft palate and cranio-facial clinics, and only a few through cardiology, immunology, and genetic services. Only 25% of individuals with VCFS have a visible deletion (by the use of a microscope) of material on chromosome 22. Other cases must be identified by the use of a special molecular test called a FISH (fluorescence in situ hybridization). Fewer than 5% of patients with the clinical symptoms have normal routine cytogenetic studies and negative FISH testing. These cases are presumed to have variant deletions which may be detectable on a research basis only.

 

Treatment

There is no cure for VCFS, therefore, the treatment program involves managing the child’s symptoms. The symptoms of VCFS vary from person to person; some individuals will not even appear to be affected, while others may be severely affected. Since it is common for children with the syndrome to have a cleft palate, which can cause difficulties with speech and swallowing, corrective surgery may be needed. Many children have speech and language difficulties, so speech therapy will be especially helpful. For those with certain heart defects, surgery may be required. Physical therapy and occupational therapy may be helpful as most children tend to have low muscle tone. For those with low calcium levels, a calcium supplement may be given, however, if the problem continues, the child may need to be seen by an endocrinologist. For those with palatal problems, ear infections may be common, and the child may benefit from working with an ear, nose, and throat (ENT) specialist.

 

What to Expect

VCFS is not progressive, meaning that the symptoms do not get progressively worse as the children get older. Developmental delay is commonly found in children with VCFS. Statistics show that the average age for walking is 15 to 16 months of age. The large majority of children tend to go through several spurts of motor development, especially between the ages of 3 and 4 years. By school age, the majority of children will perform close to the normal range in terms of motor skills, although they may always be a bit more hypotonic.

Almost all children with VCFS have some form of learning disability which typically becomes obvious by ages 7 or 8 years. They tend to do the poorest with abstraction and problem solving skills often used with mathematics and reading comprehension. They do well, however, with letter recognition and sounding out words. Since they may require a different learning style, some extra help in school may be necessary. Speech delays are also common, with the average onset of the first word at 19 months. Fortunately, however, the same developmental spurts found in motor development also occur in speech and language. In general, most children with VCFS show significant catch-up before their fourth birthday.

 

Personal Stories

Part I of VCFS and the Avram Family

It has been very difficult for me with my two children who suffer from VCFS. I can remember the nights sitting and wishing I could find out what the children and I were dealing with. It was not until my second child was born with VCFS that a diagnosis was made.

My husband and I were married for nearly 8 years before our first child was conceived. We had tried every avenue to conceive and the day had finally come. I had been admitted to the hospital for blurred vision and headaches. At the time, little did I know I was already 5 months pregnant. The next 5 months were quite difficult for the baby and me but we made it to the delivery. Daniel Allen Avram Jr. was born October 3, 1993 weighing 6 lbs. 9 oz. His birth was difficult, for he had been strangulated by the cord. His apgar scores were 1 and 3. But, thankfully after what seemed like eternity, I heard his first cries. It was music to my ears! After he was thoroughly examined by the NICU team, I was finally introduced to my baby boy. I will never forget the doctor's faces as they handed me my baby. They looked white as ghosts and in a slow voice they began to tell me about my son. His gender was under question due to his genitalia being grossly underdeveloped and he also had an extra finger. Of course, after many hours of testing and observation and 7 days later, I was told my little baby was a boy. By this time his ventricular septal defect (VDS) and patent ductus arteriosus (PDA) were also diagnosed as well as a severe case of low blood sugar. Daniel was released at 2 weeks of age and we were sent home to start enjoying our new son.

The day our world came down was when Daniel was 3 months old. I had taken him to his urology appointment to schedule his surgery for undescended testes and little did I know what the doctors had in store for me. I was standing in the white examining room when a swarm of doctors came in to inform me that my 3 month old son would need a sex re-assignment operation. I was completely blown away. What were these doctors saying to me? My son would live a better life as a girl? They wanted to change his gender from male to female! Needless to say, we decided our son was born a boy and shall remain a boy. Daniel will require many, many more urology appointments and intervention to help him develop his genitalia, however, he will remain a boy.

When Daniel was very small, I can remember thinking he just did not seem normal. He was very preoccupied with objects (shoes and video boxes). He would easily become upset from bright lights and noises. He became visibly upset with any changes in routine. Sadly, these behaviors were only the beginning of a very long difficult road for my baby boy.

With VCFS, psychological problems are among the 180 possible conditions. Sadly, some of Daniel's early behaviors were only the beginning of his psychological problems. He currently suffers from bipolar disorder (rapid mood cycling), ADHD, pervasive developmental disorder-NOS, obsessive compulsive disorder, and an eating disorder. Daniel is currently taking several different medications to aid in controlling his mental disorders. If I were to rate Daniel's mental health, I would have to say, "poor." We are always looking for more information and professionals to help my son deal with his difficult problems. I can only hope that some day my son will no longer be stricken by such horrible conditions.

Developmentally, Daniel currently functions at approximately 3 to 4 years of age. He has just learned how to hold a pencil and can now trace his first name. He attends a special education class. He has an extremely difficult time with social settings and is quite often disruptive in class. He struggles with aggressive, destructive behavior. He has a difficult time making and keeping friends. He prefers to play alone and does not interact with peers well. His speech is quite good but on occasion, he will regress in his speech when under stress (will use repetitive speech). He has difficulty following complicated demands (Get your shoes and put your plate in the sink). You will usually get one of the two commands completed if he is not distracted by something on the way.

He also has sensitivity to movement, lights, and loud sounds. The best way to describe Daniel is that he has a VERY large personal space area and no one must ever enter this area unless they are invited.

Daniel was very delayed for all milestones; he rolled over late and crawled late. He was mute until the age of 3 and he did not coo or babble as a child. He hated to be held tightly. He walked at approximately 20 months, and he is still not potty trained at 6 years of age.

We have been fortunate in regards to Daniel's heart conditions. He currently still has an unrepaired VSD and PDA. His low blood sugar condition has subsided and seems to be resolved. He has now developed an underactive thyroid and is currently being worked up for this condition. One year ago, he developed complex partial seizures. He wears glasses for small optic nerves, he is quite clumsy and has a very obvious tremor in all four extremities. Daniel also suffers from chronic leg pains.

 

Part II of VCFS and the Avram Family

When Daniel was 16 months old, our family was blessed with a second addition to the family. Kayla Marie Avram was born March 24, 1995 weighing 6 lbs. 6oz. Her apgar scores

When Kayla was born, she came out screaming and looking completely "normal." However, only hours after her birth, it was discovered that she was having difficulty maintaining her body temperature and a huge VSD, atrial septal defect (ASD), and PDA were present. Unbelievably, she was sent home at 2 days old, only to return merely weeks later in congestive heart failure. The next 11 months with Daniel’s and Kayla's medical conditions are a complete blur. I still do not know how I made it through. It was not until 3 years ago that I was given a reason for all of the children's medical conditions. VCFS was once again a part of my life with my second child.

At 11 months of age, Kayla was finally strong enough to survive open heart surgery. The surgery was done and we thought things were going up hill from there. However, she was always a poor eater and had to be given a G-tube for eating (which she still has at 5 years of age). She has had so many gut surgeries, I have lost count. She has reflux so bad, that it was like you had turned on a hose when it came flying out her nose.

She has now been diagnosed with SEVERE velopharyngeal insufficiency (VPI) and has been fitted with a palate lift and bulb to aid her speech and eating difficulties. We used sign language for approximately 3 years and will still use it on occasion when Kayla cannot get her point made. She has been a real trooper and is wearing the lift with no problems. Her speech is rated poor due to her hypernasal voice.

Two months ago she was diagnosed with an under-active thyroid and is currently awaiting treatment. She wears glasses for small optic nerves, and has a mild case of curved spine, giving her butt the appearance of being crooked. She suffers from chronic leg pains and often refuses to walk long distances.

Developmentally, she is age appropriate with the exception of her speech. She is quite friendly and makes friends fairly easily. She does not seem to display emotional problems at this point.

With all this said, I must take a few moments to tell you how much I love and would never wish my kids away. Kayla is every mother's dream daughter. She loves to dress up, paint finger nails and comb Mommy's hair. My baby girl has traveled a very difficult road and is really starting to bloom into a lovely little lady. She makes me so proud to know what she has been through and what is still ahead of her. It's just amazing how she has had to suffer so and will still start her day with a smile.

Daniel is a very demanding little boy. However, as his mommy, I can see my little guy trying to make sense of this world. I can see him trying to reach out and become a part of his surroundings. Today, this is not possible for him. But Mommy will never quit trying to help him find his place in society. And, even if he never finds his place in society, that's okay because he will always have a huge place in Mommy's heart who loves him just for being him.

Having children with VCFS is very difficult. However, I'm living proof that a family can live with VCFS. I'm sure we will always have struggles, and of course, doctor appointments, but we are still a family.

I would also like to add that after both children were diagnosed with VCFS, it was found that their father also has VCFS. Unfortunately, after the children were diagnosed with VCFS, my marriage of 13 years came to an end. I would like to say to any other parents dealing with VCFS and they themselves being the carrier, that no matter what the test says, they are still the mommy or daddy and are needed tremendously. - Crystal A. Avram


We have a son, who does not have VCFS, who was born October 13, 1994. Then we had our daughter, born November 20, 1997, with VCFS. I went into labor with her at 32 weeks, and was in the hospital for 10 days avoiding birth, but then I lost all of the amniotic fluid (although I had more fluid than normal) and they took her by emergency C-section. Since I was at 34 weeks then, it was questionable as to if she would need the ventilator or not. They took her straight to the NICU to evaluate her, and came back to tell me they needed to put her on the ventilator. I was devastated because I knew she would not leave the hospital with me, so I asked for drugs so I could just sleep.

The next day, I got the huge surprise call from the cardiologist, and he asked if my husband was with me. That was my first clue that it wasn't good. Karl had gone to eat with my family and was on his way home to put Jonathan, our 3 year old at the time, to bed. It was 9 p.m. and the cardiologist wanted to go home, so he told me the news, without Karl there. Luckily, our preschool minister from the church was there or I don't know how I would have done. I couldn't believe it - Keri needed open heart surgery!! I had never heard of such for a baby. I went down to see her in the NICU and then my parents came back from dinner, and I had to tell them. Karl had not made it home yet, so the cardiologist met with me and my parents, drawing pictures of a normal heart, and then Keri's. He explained the surgery that she would need and said she probably had a genetic disorder that caused this that would also probably lead to speech problems and learning delays. He mentioned the great risk of surgery on a 5 pound baby, but said that heart surgery is about 95% successful. There are two heart surgeons at the children's hospital that is attached to the hospital where Keri was born, but the head heart surgeon was skiing for Thanksgiving. The second surgeon did not feel comfortable doing the surgery without the head surgeon, as it was so complex. So we waited.

Keri was missing the pulmonary valve, had a window between her aorta and pulmonary artery, had no separation between the bottom 2 lobes, and had 3-5 other holes in her heart. The surgery would place a valve, close all but one hole, put a mesh piece in to separate the bottom lobes and give her a semi-normal heart. We waited for the surgeon to get back from skiing, as I prayed for him to not hurt his hands while skiing. I met with different cardiologists, and the surgeon who was in town, and every time I met with one, the chances of Keri surviving the surgery got lower. We went from 95%, to 90, 85, 80, 75, 70 to 65%. I was freaking out. I usually like to think of the glass as 2/3 full, but this time, there was a one in three chance of my baby not living through it. That was tough. The surgeon was the one who brought it down to 65%.

The head surgeon came home in one piece, and I told him I prayed for his hands; not his feet, legs, back or anything, just his hands. He chuckled at that, and we began a long day the next day. I got to hold Keri for a whole hour before the surgery, without any tubes or monitors, and it was so nice. She just slept in my arms, which she had never had the opportunity to do. It was hard because I then had to hand her over to those nurses, thinking it could be the last time I did it. That was at 7 a.m. Dr. Fox said he would not call us, nor would his nurses, until it was all done, about 6 hours later. What a long day that was, not knowing anything. He explained the time that she could be on the heart-lung machine, without causing permanent organ damage, and that if it went too long, it would not be good. Well, after the 6th hour passed, I started to panic quietly. After 7 hours I got pretty scattered, and finally, we got the call. The nurse said her heart was weak and her lungs were weak, but they were wheeling her to the PICU, and we could see her in the hallway before they took her in to get her set up. She looked so bad. They try to prepare you for all the tubes and the bad color, but they can't. I didn't even recognize her, except I knew that it was her hair. They got her set up and said we could see her in about 30 minutes. An hour passed and they came back saying she wasn't doing well, but we could see her in 30 minutes. Another hour passed and we got the same story. The surgeon kept coming in to tell us that she was not doing better, but not doing worse. We got to see her, and then I noticed she was bleeding through the gauze. They had drainage tubes where the blood was to go, but this was not normal bleeding, so they made us leave, and they opened her up again right there in the PICU. The doctor then came over and said she was going down hill, but that we could see her after they got her cleaned up again. What a difficult visit that was. I gave her a little pep talk, and told her that we were proud of her for fighting so hard all day, but that she could stop fighting if she had too, and we told her goodbye.

They had gone back into her chest 4 times to repair some bleeders, and that was just so much stress on her. It got to be about 10 p.m., so they gave us a room in the hospital to sleep, so we could be there and check on things. I was so exhausted, that I actually fell asleep on that plastic bed without much trouble at all. Then at 11 p.m., the phone rang. My heart sunk. I couldn't believe it, but it was the nurse calling to say that they were able to take her off the pacemaker, and that she was doing pretty well on her own (at least her heart was). She was still on the ventilator (and continued to be for about 10 days, I think). Anyway, I started calling my family, and making their hearts sink too, but I had to tell them the good news. I went to see her, and she looked the same to me, but I felt better about things.

She was sedated for a week, because they had not wired her sternum back together due to swelling, so they didn't want her to move. That week was hard in that I just sat by her bed and talked to her, sang Christmas carols, and she did not respond. Then, she opened her eyes and I cried. There was a baby in that body! They began to take out one tube a day for a while, until they were able to get her off the ventilator, and she did well breathing on her own, with a little oxygen. Other heart patients came and went from her ward, but she just slowly gained strength, and amazed everyone. My sister-in-law went to nursing school with one of the nurses in the PICU and she called and asked about Keri in the middle of that night, and the nurse said they never live through what she had been through that day. God had other plans for Keri though. She is such a miracle.

Keri had major reflux and wasn't allowed to suck a bottle much, so she really never caught onto that. She is still totally G-tube fed, although she is making some progress orally. She had the G-tube placed at 8 weeks of age, which allowed us to bring her home at 9 weeks of age, to be in our home, finally.

As far as Keri's progress, God has blessed us again. The doctors said she would need her next heart surgery between her first and 2nd birthdays. Well, she turned 2 in November and she still doesn't need the surgery. She does have speech delays, is not easy to understand, and she did develop quite slowly. She sat up at 9 months, took her first crawling step at 13 months, and took her first walking step at 18 months. But, cognitively, she is doing so well. At 28 months, she knows her colors, recognizes numbers from 0-10, and makes her mama proud!! - Pam Reigle


My daughter, Monica, is nearly 6 years old and she is just so terrific! She has VCFS and as a baby, was developmentally delayed and had failure to thrive. She also has a swallowing dysfunction, that necessitates a feeding tube and tracheostomy, that prevents her from any oral feeding. She has reactive airway and chronic lung disease. She's had terrible GI reflux until her Nissen fundoplication. She's had multiple ear tubes placed for fluid drainage and she had calcium issues with hypoparathyroidism. Last year, she had a seizure episode at which time we found she had hypertension and some renal dysfunction.

Monica is in kindergarten and we know there are so many educational issues with VCFS. It is very difficult to know which issues are normal, situational or VCFS related. Deciding when it's time to bring in the VCFS professionals (where to find them and how to get to them) is also an ongoing challenge.

But, Monica is so much more than an educational dilemma or medical synopsis! Monica is a wonderful kid - not just like every other child, not normal, but unique and special! Monica is an avid reader; after we read together, she reads herself to sleep nearly every night! She loves the computer and regularly asks for new CD-ROMS for presents. Monica is a lovely little ballerina and has just learned to ride her bike with training wheels. Monica is popular among her friends and teachers with a great sense of humor. She brings such enthusiasm to every thing she does! - Lisa Jennings


My son is 13 years old and has VCFS. He was the perfect "Charlie Brown" when he was born. He had a round little head and pug nose. He was really cute. I knew soon after he was born that he had chronic health problems. He was colicky, had reflux, and was born with a hernia. The chronic ear infections and deteriorating baby teeth soon followed. He had several seizures associated with rapid rise in temperature. He had to be bottle fed because he could not suck properly, which later confirmed a sub mucous cleft palate. My son showed every sign of having a nonverbal learning disorder but at that time, little was known about NLVD or VCFS.

Persistence led to a diagnosis. After my son had his tonsils and adenoids removed pre-diagnosis, he was not able to speak clearly. He was six years of age. A pharyngeal flap was done, and he speaks well now, but has had to overcome many surgeries.

My son has learning challenges, especially with math, which became obvious in the 4th grade. He was also more naive and gullible than his age appropriate peers. My son is musically motivated, and can pick up songs and play them on the harmonica by sound. He is intelligent and bright. His sense of humor is one of his best qualities. He brings laughter and smiles to anyone. Two years ago, the best way I could explain VCFS to my son was that he has Velo-Cardio-Facial Syndrome. He is: Valuable-Caring-Friendly-Sensitive.

I know it sounds as if our lives have been like a walk in the park. On the contrary; it has been anything but a bed of roses, but my son is my son and love will always prevail. - Ronda McElroy


We have an 8 year old boy with VCFS. He was diagnosed with the chromosome 22 deletion in March 1996 after a myriad of medical problems and developmental delays. He is now in 2nd grade, fully included in a regular classroom with an IEP. He receives resource help through a pull out program for reading/language/writing. He participates in the Herman Reading Program. He does read below grade level but can read. We have modifications in his curriculum (very limited) and a behavior modification plan in place. Overall, he's doing well in this learning environment and has made great strides. Considering in 1996 we were told he would be anti-social, have mental retardation with a low IQ, not function well in school, will probably have to live with us as an adult, and become bipolar or schizophrenic, he is doing quite well.

A brief history of manifestations are: tetralogy of Fallot heart defect at birth, residual back flow, right heart enlargement, upper respiratory infections, heart tachycardia with fevers, sensorineural hearing loss, occult submucous cleft palate, tonsillectomy, flap surgery to repair cleft, developmental delays in gross and fine motor skills, severe speech and language delays, mild immune deficiencies, foot/leg problems (hypotonia), and learning disabilities.

We feel his success is based on the fact that early intervention was implemented by age 3. He was placed in a communicative handicapped preschool program, had occupational therapy for 2 years, resource help in regular education classes since kindergarten, and we continue to work with him at home in math, reading, and speech/language. He is a happy, social 2nd grader with many friends. His fatigue, due to heart inefficiency and hypotonia throughout the body, makes the school day very long for him. Trying to play team sports (like baseball) is difficult, but he manages. His ability to complete any task is really based on how he's feeling physically at the moment. This contributes to the mood swings that occur daily at home and at school. He doesn't do well with transition. He does well when he knows what's expected of him and what's coming up next.

The best thing about our son is that he's funny! We never know what he's going to say or obsess on. He takes everything said literally! For awhile, he would act like a puppy when he didn't want to deal with something. He'd drop to all fours and then lift his bent leg and act like he was scratching fleas. We ignored it and finally he stopped. Other children with VCFS have done similar animal traits. At one meeting, we had a cat, a puppy and a lion!

Our advice to any family would be to get intervention as soon as possible. Trust your gut instinct when you know something is not quite right with your child. If we hadn't pursued and insisted that his development was not normal (he has two older brothers), we're not sure we'd have his diagnosis today. Be prepared to educate all professionals you come in contact with about VCFS and your child's specific needs. This is under-diagnosed in the medical and educational communities, so it’s our job as their parents/advocates to help get their needs met. Our most important advice is to approach professionals with the philosophy that you will be a team. Working together and offering support will get you more overall and will lessen your level of frustration.

We have been encouraged by parents of children older than ours, who've traveled the path before us, who gave us hope. - Pamela & Kevin Hunter

 

Resources

If you are interested in meeting other parents and individuals who are involved in raising a child with velocardiofacial syndrome, the following listserv is available:

E-mail List - To subscribe, send an e-mail message to: listserv@maelstrom.stjohns.edu. In the body of the message, type: "Subscribe VCFS" (without the quotes), followed by your name. A confirmation with further instructions will be sent to you.

For more information on velocardiofacial syndrome, please see the following references:

 

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