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Apert Syndrome

Apert Syndrome Poster Child
Nicholas Graves

Apert Syndrome Poster Child
Emily Krebs

Introduction

Apert syndrome is a rare genetic disorder that is characterized by specific craniofacial and limb abnormalities. It is caused by a genetic mutation in the FGFR2 gene on chromosome 10. The mutation can be inherited from a parent who has Apert syndrome or it can be a spontaneous (new) mutation. Studies show that Apert syndrome tends to occur more often in children with older fathers. Furthermore, all new mutations (those that have not been inherited by an affected parent) have been shown to occur exclusively in the FGFR2 gene received by the father. Apert syndrome occurs in 1 out of 100,000 to 160,000 live births and affects males and females equally. The first reported case of the syndrome was in 1848 by S.W. Wheaton, and in 1906, a French physician named E. Apert described nine cases and defined the syndrome.

 

Features and Characteristics

The following characteristics have been found in children with Apert syndrome:

Prematurely Fused Cranial Sutures

In typically developing children, the skull is made up of several plates which are loosely connected and eventually grow completely together as the individual reaches adulthood. In children with Apert syndrome, however, the plates have prematurely fused together, which restricts brain growth and causes increased pressure in the brain as it continues to grow. Early surgery can be performed to release the pressure and allow room for brain growth by detaching the plates from one another. Adjustments to the skull can also be made at this time to give the child a more "normal" appearance.

Retruded Mid-face

The mid-face (the portion from the middle of the eye socket to the upper jaw) of a child with Apert syndrome has a concave appearance. As the child grows, the upper and lower portions of the face develop at a normal rate, however, the middle portion tends to grow at a slow rate, resulting in a more concave appearance as the child gets older. There is a surgical procedure, known as The LeFort procedure, that can correct this problem by detaching the facial bones in the mid-face area and spacing them with proper alignment. The LeFort procedure is usually performed after the child has grown substantially.

Fused Fingers and Toes

The fusion of the fingers involves the soft tissues of the index, middle, and ring fingers and, often times, even the bones themselves. In addition, the thumb may be fused into the hand or it may be free. Surgery is often performed to separate the fingers to increase functionality, although depending on the severity of the malformation, it may or may not result in five individual fingers on each hand. The toes are typically fused together the same as the fingers, however, surgery is not usually performed on the toes unless it impedes the individual from being able to walk. The fusion of the hands and feet can also affect the shoulders, elbows, hips, and knees.

 

Diagnosis

The diagnosis can be made by a skull x-ray, which will confirm premature closure of the skull, and by a clinical exam. The combination of the craniofacial problems and the fused fingers and toes is what distinguishes Apert syndrome from other similar syndromes. Since the defect which causes Apert syndrome has been identified, genetic testing can be provided to confirm a diagnosis.

 

Treatment

Treating a child with Apert syndrome is best accomplished with a team approach. This would include a craniofacial surgeon, neurosurgeon, ENT specialist, audiologist, speech pathologist, oral surgeon, psychologist, ophthalmologist, and an orthodontist. The majority of treatment methods is surgical and the individual will likely require many operations. Aside from the surgeries required to correct the craniofacial problems and the fused fingers and toes, there may be other potential surgeries to improve the upper airway, address severe eye problems, or correct dental issues.

 

What to Expect

Varying degrees of intelligence have been reported in individuals with Apert syndrome; some individuals have a mental deficiency while others have average intelligence. One particular study (Patton et al., 1988) showed that out of 29 individuals with Apert syndrome, 14 had normal intelligence, 9 had mild mental retardation, 4 had moderate mental retardation, and 2 had severe mental retardation. Another study regarding cognition in children with Apert syndrome (Sarimski, 1997) revealed that there was a consistent relative deficit in short-term memory and arithmetics amongst the children.

The surgeries that are available to children with Apert syndrome have enabled many of them to reach their full potential by allowing them continued intellectual growth, increasing their physical abilities, and by improving social acceptance. As each child reaches a different developmental stage, however, they encounter new challenges that affect them emotionally and socially. Parents and other family members play a critical role in encouraging and supporting their child during these difficult, and often stressful, periods. Therefore, it is extremely beneficial for everyone if the parents understand the issues of each developmental stage and provide the fostering their child may need to overcome any obstacles and achieve success.

 

Personal Stories

Nicholas was born November 26, 1991 in Birmingham, AL, where he was diagnosed with Apert syndrome within a matter of hours. However, they had no information to give us; one paragraph from a medical journal was all. We took him home at 10 days old, but had to take him back after 3 days due to breathing problems. After doing anything and everything possible, we were faced with the only possible thing left - a tracheostomy. The tracheostomy was one week before Christmas and he stayed in the hospital until the end of January. During that time, we attended classes to learn how to care for him with the tracheostomy. We went home with home nursing care and our nursery turned into what looked like a hospital room.

Nicholas was late reaching most developmental stages such as crawling, sitting up, and walking, and was very delayed in speech due in most part to the tracheostomy. He will be eight years old next month and has had 17 surgeries in all. The tracheostomy tube was removed after a major mid-face advancement at age 4 years. He has had eye surgery, ear tubes, hernia repair, numerous hand surgeries to release the fingers (they did manage to get 5 fingers on each hand), and many various cranial and facial surgeries. He is now in 2nd grade, and is in a mainstream class, but goes to a special education class for Math and Language Arts. He has the most difficulty with reading and writing legibly, but he is progressing.

We are so thankful to have found the Apert listserv online. I only wish it had been there when Nick was born, but it is truly a God-sent blessing. I am so glad that parents now can have this great wonderful support and knowledge system from the beginning.

These kids are truly a gift... as any special needs child. One smile from that little blonde curly- headed boy makes it all worth while. - Carol Graves


Emily Helen Krebs was born July 26, 1997 with Apert syndrome. She has had 9 surgeries so far, including a cranial surgery, eye muscle surgery, cleft palate repair, ear tubes and several hand surgeries.

Although this sounds like a lot, and it is, Emily is the best thing that ever happened to our family. She is like a ray of sunshine every day. At 2 years old now, she is running all over the place, although she started walking late. She is speaking almost up to a 2 year old level. Emily does have limitations in her fine motor skills because of her fingers, but after her next hand surgery, she will have all 10 fingers.

My advice for any new parents of a child with Apert syndrome is to take a deep breath and know that you will get through it. These children are incredible and there is no stopping them. The first 2 years are the hardest, so I have learned, with most of the surgical procedures taking place. Try to enjoy your child as much as you can throughout this time.

Emily has a determination in her that is unbelievable, not to mention an adorable personality and she is beautiful. Even if I could change her, I NEVER would. I wouldn't want her any other way. She is truly the light of my life. - Janine Krebs


I would like to tell you about a very special couple: Steve and Stacy Bell.

Two weeks before Christmas 1997, Stacy went for her last routine sonogram. Something did not appear right, so she was sent to have another with more sophisticated equipment. In a matter of minutes, their lives changed forever. It was confirmed that there were deformities of their unborn child's head, hands and feet, but the doctors couldn't be specific. When it came time for delivery, both families were present to give as much support as possible. Steve, my son, looked as if he were being lead to the firing squad rather than into the delivery room. My heart broke for both of them.

Brooke Leann Bell was born December 22, 1997. As soon as she entered the world, the doctor immediately saw there was a problem and sheltered her parents from seeing her. He had her whisked from the delivery room to the neonatal intensive care unit and requested that none of us see her until she was stabilized. Later that morning, Steve called to say that they had finally been able to see Brooke. Granted, she had problems, but it was not nearly as bad as they had imagined.

When we saw her, we agreed that although she would have quite a struggle, there was hope that she could lead a reasonably normal life, after a multitude of surgeries. The only information doctors could give us was the name of Brooke's disorder, but little more. She has Apert syndrome.

After much research, we found that Apert syndrome, in simple terms, is a condition involving growth of the skull and the face, as well as fused fingers and toes. We were then able to form a battle plan for treatment. We began to realize that there was indeed hope for our special child. Through what we consider to be "divine intervention," we were put in touch with literally "the best neurosurgeon in the world," Dr. Ben Carson at Johns Hopkins Hospital in Baltimore, Maryland.

Brooke remained in the hospital. Two surgeries were performed at that time: a tracheostomy, which enables Brooke to breathe easier (this is temporary until some of her craniofacial surgeries correct her nasal passages) and the installation of a shunt, which allows the cerebral fluid to flow from the body naturally. A tube was installed to aid in her feeding, and a central line was secured to eliminate the countless needles she would need for medications, blood samples, etc.

Stacy wished only one thing for Mother's Day, 1998 - that Brooke would be able to come home. She got her wish. A few days before Mother's Day, Brooke arrived home with an abundance of medical equipment and supplies and round-the-clock nurses, all of which were squeezed into their tiny living room since there was no spare bedroom to accommodate Brooke. In no time, Stacy had the living room turned into what looked like a neonatal intensive care unit and it ran just as smoothly.

When the case worker arrived, she expected utter chaos, but was genuinely surprised that Stacy had everything under control. She had mastered the equipment, supplies were neatly arranged for efficiency, and she was instructing Brooke's nurse as to what needed to be done.

Brooke is now 2 years and 10 months old. She spent most of her first 1 years in the hospital. She has endured more than 30 surgeries and/or procedures. During these hospital stays, her parents have been at her side every day. All the while, they still try to maintain some normalcy about there lives. Stacy tries to also cater to Brooke's sister, Holly, now 5 years old, and keep a part time job. She performs all the normal tasks that mothers do and even manages to plant a flower garden.

Steve, of course, is responsible for most of the financial support and works long hours with his parents in the family business. During their many visits to the hospital, they got to know many of the staff on a first name basis; some there felt that Steve bore a strong resemblance to the famous actor/comedian Jim Carey (I think it was his sense of humor as much as his resemblance that lead them to think this). He is quick with witty responses and can seem to find something funny about anything. After working with Steve for some time on a job site, one of the contractors approached me one day to tell me that he had just found out about Brooke and all of her problems. He remarked that he was shocked because Steve never let on nor acted like he had a care in the world; he was always so jovial and in his words, "happy-go-lucky." I told him that I thought everyone dealt with stress in their own way; Steve's way is humor; I've often told him that if we ever run out of jobs to do, I'm going to put him to work as a stand-up comedian!

It has not been easy; they must try to function normally with Brooke and her nurses - the main attraction in their tiny living room. Birthdays and holidays are usually celebrated with "standing room only" unless, weather permitting, the celebration moves outside. When they go out, their mini van is packed full of Brooke's supplies: a special wheelchair/stroller built to support her body, a feeding machine and suctioning machine, and a bag full of medications for various emergencies. They cannot just have a babysitter; whoever watches Brooke must have had a special course in infant CPR and some knowledge about dealing with a tracheostomy. Normally, a nurse is in attendance until such time that Brooke's tracheostomy can be permanently removed; this will probably be sometime within the next year or two when she will have had probably one of her most important and dramatic surgeries - a mid-face advancement. She will need "growth adjustments" (surgeries) from time to time and therapies are necessary several times a week. When she is 3 years old, she will go to a special school for more intense learning and physical therapy.

Brooke takes all of this in her stride and seems to be a very happy child. She has made dramatic progress developmentally. Though she is not yet walking, she is taking steps with a reverse walker and manages to get into her share of mischief by scooting around on her back. She uses some sign language for communication as well as some squeaks and grunts to make her wishes known. She is tolerating a speaking valve and is working on verbalization. She recently had tubes inserted in her ears to enhance her hearing

Throughout all of this, I have never seen Steve and Stacy wallow in self-pity. Instead, they persistently encourage Brooke to do the things that come so easily to most children as they progress. I know that they will never take for granted a "spoken word" by Brooke. They will never consider her "first step" ordinary. When their child says "momma" or "daddy" for the first time, they will be present at a miracle and know it. They will rise above ignorance, cruelty and prejudice in other people.

Steve, Stacy, Brooke and Holly were asked to participate in a special documentary that deals with craniofacial plastic surgery in children, and how it impacts their lives and families. It aired recently on the discovery channel; it is called: "Restoring Faces." Brooke is very fortunate to have such a wonderful plastic surgeon, Dr. Vanderkolk. Johns Hopkins Hospital got some very positive feedback. Some parents of Apert children saw the show, contacted the hospital and asked to be put in touch with Steve and Stacy in order to exchange information and ask questions. They, of course, agreed and were more than willing to share their experiences and knowledge with other parents.

So, if any of you think that you have been given a mountain you can't climb, don't despair; it’s amazing what the human spirit can endure. There is lots of help out there and lots of wonderful people who are willing to help see you through. - Janet Bell, Brooke's Nana


Hi! My name is Kelly Spadini. I am 18 years old. I have Apert syndrome. I was born October 10, 1981. When I was born, Apert syndrome was a real surprise to my mom, Denise, and my dad, Phil. As I have grown up, we have not let Apert syndrome get in my way. I am very outgoing and have been involved in many things. I played soccer for a season when I was seven or eight and was involved in Girl Scouts for 4 years. I am a senior in high school and anxiously awaiting graduation. I plan to go to a 2-year university, then transfer to a 4-year university, and pursue a career in the medical field. There is a program at my school called the Health Careers Academy. It is a program that puts an emphasis on programs in the medical field. I joined the academy my junior year, and quickly noticed a change in my personality. I seemed much happier and gained more self-confidence. I finally know what I want to do after college too!

I have had over ten surgeries to date, not including a pallet split, gingivectomy, and getting my wisdom teeth plus four other teeth pulled all at the same time. That was one experience I'd like to forget. I don't really remember much of my other surgeries, except my pallet split and gingivectomy. I had all the other surgeries when I was really little. I am also getting ready to have a mid-face advancement, probably next summer. I am anxious to get it over with, but also very nervous. I have had more surgeries than any of my friends.

I have been really lucky when it comes to school and other people and their reactions towards me. I have been going to school with pretty much the same people since kindergarten, and met the rest in junior high. I have an awesome group of friends, who I would be lost without. They are always there for me when I need them. They are always willing to help me, but they always wait for me to come to them. One thing that I have learned from having Apert syndrome is that you definitely know who your friends ARE and who your friends AREN'T. I have spent more time learning who my friends are than learning who they aren't. I am often the entertainer of the group. I tend to do a lot of talking and they tend to do a lot of laughing. I am described as loud, fun, and friendly. I do get occasional stares out in public, but I do not let it bother me. I just kind of stare at them too, then they get the message and look away. When I am out with friends, it seems to bother a couple of them more than it bothers me. It doesn't bother me, so I don't want it to bother them.

My family is as awesome as my friends are. They feel bad for me sometimes, but I don't get any special treatment because I have Apert syndrome. I like it that way. I like to do what everyone else does and don't like to hold back on anything. They have given me a lot of support and I know they will always stand beside me and be proud of me. They don't always say it, but they definitely show it. They push me to do my best, even when I am about ready to give up. I have two sisters and one brother and another sister and brother on the way. My older sister and I are very close. When I was in elementary school, we rode a bus. There were a few people who didn't have tact. My sister was always right there if anyone started any trouble. She was protecting her "baby sister." Last year, she went off to college. That was one of the saddest days of my life. I miss her terribly. It was really tough for the first month or so, but it's getting better. My little sister and little brother look up to me too. Since I don't live with my little brother, I was always worried that he would forget who I am. He obviously hasn't forgotten who I am because he always has a huge smile for me and he seems to recognize my voice over the phone, as I have been told.

I think that having Apert syndrome has made me a better person. I always try to do everything to the best of my ability. I never give up. I am glad that my family and friends wait for me to ask them for help. I sometimes think about what my life would be like if I didn't have Apert syndrome. I sometimes think "Why me," but most of the time I am pretty content with my life. I am not sure I would want to change a thing. - Kelly Spadini

 

Resources

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

Apert email discussion group - To subscribe, send a message to listserv@listserv.aol.com, leave the subject field blank and type the following in the body of the message: "SUBSCRIBE APERT" (without the quotes) followed by your name. Shortly thereafter, you will receive a confirmation.

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

 

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