Our Families’ Experiences With…

Our Families’ Exeriences With…

Note: These are the observations of parents, and is not medical advice. If you have any questions or concerns about any of the conditions mentioned below, please consult with your medical professional.*

Autism

Do some kids with FGS truly have autism? This is a question that has been debated and appears to need more research. In “The FG Syndromes…: Perspective in 2008”, Dr. Opitz states, ”So many children, mostly boys, with diagnostic criteria of FGS come into the clinic with a diagnosis of autism, mostly without fulfilling conventional diagnostic standards of the diagnosis, or having PDD-NOS, Asperger syndrome, or “autistic-like manifestations”. In our clinics, most of these boys, when addressed engagingly by first name, are able to stop a moment from their perseverate activities, look you straight into the eyes, smile, and cooperate with the examination. However, the large population of such children seen in the pediatric genetic clinic may not be representative of the “truly” autistic children seen in the pediatric psychiatry clinics. Nevertheless, some commonalities between these two patient groups deserve further study.”

** Autistic-like tendencies, such as lack of eye contact, perseverance, repetitive movements, and “flapping and jumping” have been reported over the years by parents who have children who are both clinically diagnosed with FGS and those with positive DNA testing for FGS. On the other hand, these same kids might also fit the out-going, social and eager to please personality as is descriptive of FGS. Many kids with FGS also carry a diagnosis within the autism spectrum. Until all is said and done as far as DNA testing and further studies on similarities and differences between FGS and Autism, medical professionals can only speculate whether or not there is a true connection. Many families with children exhibiting autistic-like tendencies have reported that, for appropriate public school educational purposes, the Autism Spectrum diagnosis has served them much better than simply a diagnosis of FG syndrome or developmental disabilities. Others have suggested that classes geared toward children with autism have proven to be limiting to their children. The parent who knows their child best would make the best judgment as to the appropriateness of education geared toward those with Autism.

**“The FG Syndromes (Online Mendelian Inheritance in Man 305450): Perspective in 2008”; John M. Opitz, MD, James F. Smith, MD, Lucia Santoro, MD; Advances in Pediatrics 55 (c2008), Elsevier Mosby, pp.159-160),


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Cardiac Anomalies

As with many of the traits associated with FGS, there is a wide and varied range of congenital heart defects associated with the syndrome as well. ASD (Atrial Septal Defect) or VSD (Ventricular Septal Defect) are the most commonly reported cardiac defects by parents, consisting of a hole in the wall between the atrial or ventricular chambers of the heart. These conditions result in extra blood flow through the heart and lungs, and can eventually cause irreversible damage. Typically, these conditions are monitored by a cardiologist in the early months/years, as often holes will close on their own. Cardiologists prefer to wait for surgery, if possible, until the newborn is a bit older and stronger, but watch for signs of impending irreversible damage to the heart. Monitoring consists of regular ECGs, x-rays, echocardiograms (ultrasound) and, ultimately, cardiac catherization to watch for signs of the need for surgery. The baby might be prescribed a maintenance form of Digitalis during this time, to keep the heart pumping at a normal pace and giving the infant the energy to actively grow and develop. If open-heart surgery proves necessary, it consists of placing a mesh-like patch over the hole, which will eventually close over with minimum scar tissue.

A variety of cardiac defects of more serious and complex nature have been reported over the years. Mitral and/or Aortic valve leakage or defect, might be a factor for long term cardiac issues. Children have been reported to have pulmonary stenosis, a narrowing of the blood vessels into the lungs. Some children have had a combination of several cardiac anomalies. For any child having cardiac surgery, it is important that parents are aware of post-operative precautions as recommended by the American Heart Association. Endocarditis, infection of the sack around the heart, is often caused by bacteria collecting on scar tissue of some surgical procedures. Thus, depending on the type of cardiac surgery (including where the incision was made), antibiotics might be administered for routine infections from illness or injury, and are recommended prior to any dental exam or treatment, as bacteria from the mouth, even with routine cleanings, spread quickly through the heart and can settle on scar tissue.


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Chronic Constipation

Chronic constipation is often a major factor in the daily lives of children with FGS. In a series of articles , a pediatrician in Utah with great interest in the FG Syndrome, shared information with families on causes and treatments for this condition. Many of our families have reported using Miralax (sold over the counter) as the best treatment for their children. Chronic Constipation can be emotionally draining for children and their parents as well. In the Sept, 01 issue, a letter from the Our Kids list entitled “Helping Our Kids Poop” & written by an adult with CP and chronic constipation issues was shared along with an email interview with him. His message eased the minds of many of our parents facing the daily issues of enemas, laxatives and impactions.


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Coping

Quotes from parents:

  • “I don’t really take much time for myself except for a nice bath when the boys go to bed. I always try to get makeup on just because it makes me feel better. It may not always look the best. But it is on! This year I vowed to lose weight (not working so far) and to take more time for myself. I am thinking about going back to school. It’s been 10 years since I graduated college and now, why not go back. I also relax by scrap booking, although I get frustrated when I don’t feel as though I’m being creative. I also just let out frustrations by calling my girlfriend who has children with disabilities. She and I toss ideas back and forth.”
  • “I get this all the time, “How do you deal with it?” Like, what else am I to do. You just do! This is your child whom you love more than anything you could imagine although they drive you nuts like no one you can imagine! LOL! I vowed this year to do more stuff for just ME. I occasionally go out with some of my girlfriends and just get away from even my husband. Oklahoma has a parent mentoring group which is wonderful. I took over the role as the regional coordinator for our area… I also got on board at my son’s school. This is something that is time away.”
  • “You know I think coping and dealing with things with our kids is the hardest thing there is to being an FG Mom. I remember at the first conference back in 98 there was a seminar on coping or something like that. The leader asked us to name off things that we felt were neglected in our lives. Housework, cooking, outside family were all mentioned. I mentioned “myself” and she said that is the most important thing that we neglect.”
  • “First let me say that I LOVE my kids and husband very much, but my two sons’ medical issues add more stresses and demands on my husband and my relationship, even more than a relationship that just deals with regular daily stresses. I just keep putting one foot in front of another, and one doc appointment to another. One of the things that we do is try to use humor when we can. My Mom, my sister, and this listserv are my life lines. I would like my life to be a little easier. It is not what I had pictured for myself. But, it is my life, so I do the best that I can and I try to take as good care of my personal health as I can. I try to get a “Mental Health break” from time to time. The boys just light up my life and it is for them that I do what I do.”
  • “As for coping mechanisms… it is nice to know I’m not the only one who doesn’t have the neatest house and might eat a bit more during those stressful times! My most recent coping strategy, which was a result of feeling quite overwhelmed by all the appointments and weekly therapies, was to take a long, hard look at the schedule and figure out what is truly necessary and what can be put on hold for now. It’s been surprisingly hard to do, because it felt like figuring out which was “more important” – speech, education, fine motor, etc –and they are all, of course, important, but so is sanity!”
  • “I tried to think back over the years with my son and figure out what was my personal way to cope. One of the most important factors was getting a job! At the time it was a financial necessity, but I soon discovered other benefits. Work was my escape! It was my social time with real live adults! It was a time when my mind was not stuck in “disability mode.” I have done lots of volunteer work over the years and it always pertains to disabilities. That too was a way of coping and I am proud of the accomplishments I have made. But, enough is enough! We need other outlets for ourselves that have nothing to do with disabilities – something that is ours alone having nothing to do with our son or daughter.
  • “At least I know that when I die, I will be remembered as a good Mom. I spent my time with my son, providing for and putting my son first. So, I’m not a candidate for a beauty pageant or a model or even have a clean house, but I have a beautiful son – and my dignity…”
    (Postscript from an article in FlaGStone about the “Dad’s Only” session at the 2005 Boston Conference)
  • “I wrote this article to remind myself and all the special needs Dads out there who, from time to time, might fall prey to the demons. Don’t lose sight of the fact that you are very far from being alone. For me, the circle of Dads I shared time with represented the connection of a unique commonality. So whatever condition you and your family are touched by, find a circle from among your peers to take the journey to another rewarding and meaningful level. As Muddy Waters sang, “I got my mojo workin’”. The question remains, is yours? Being in the presence of those who walk in your shoes is a surefire way to stay in touch with one’s mojo.”


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Difficult Eating Habits

(Article taken from the November, 1999 issue of FlaGStone)

Some kids with FG Syndrome exhibit eating habits that are very frustrating to their parents. A percentage of kids born with FG have such severe involvement that they must be fed via G-tubes for a while. One would expect feeding issues with these children. But, what about the others? Four distinct eating issues have emerged from discussions on the Listserv. They include The Picky Eater, The Gandhi Child, The Chipmunk and The Food Bolter. While eating may not be a “trait” in itself, each of these issues relate to traits of the FG Syndrome and cause parents a great deal of stress at mealtime.

The Picky Eater is likely dealing with Sensory Integration Dysfunction. Most foods just do not appeal to their senses. Food might look, taste, smell or even feel funny in their mouth and it makes the Picky Eater very uncomfortable to eat it. Parents of the Severely Picky have learned not to force the issue as these children will literally gag and vomit on the spot on food that doesn’t appeal to their senses. Instead, they prepare what the Picky Eater likes in hopes that his culinary tastes will increase with age. Macaroni & Cheese for breakfast, lunch and dinner five days in a row is not unusual!

Parents of the P.E. become very sneaky. One Mom grinds up veggies like broccoli in a blender to add to hamburgers and her Severely Picky kids are none the wiser. Another Mom whose son only ate chicken or hot dogs became brilliant at the art of deceit. Pork chops were “brown chicken”, bacon was “skinny hot dogs” and Thanksgiving turkey was “big, fat chicken”. “Dipping it” is a common negotiation strategy for the P.E. Love catsup but hate green beans? Dipping them in catsup might make them okay. And, always make sure that the Picky Eater gets a multiple vitamin – if one that appeals to his senses can be found!

For some picky eaters, and for no apparent health reason, food just doesn’t have any appeal at the moment and this child simply refuses (usually politely) to eat. Threats and bribery have no affect on this Child. He will eat when and what his body tells him to eat, not what Mom and Dad say to eat. Fortunately, it seems that these phases usually only last a short time.

The “Chipmunk” stashes food for a midnight snack. A high narrow pallet is great for stashing mushy crackers or that last bite of a sandwich, but cheeks and under the tongue are good storage spaces as well. Hypotonia is most likely involved with the Chipmunk. An uncoordinated tongue and difficulty chewing can result in food stashing. The perils of the Chipmunk are many, the least of which is poor oral hygiene.

The Food Bolter also appears to have issues with hypotonia including little or no gag reflex. One Mom theorizes that by stuffing his mouth, her son gets the food pushed back to where it slides down his throat. Thus he doesn’t have to deal with the difficulties of chewing, swallowing and coordinating his tongue. Food Bolters eat too fast, take huge bites, stuff their mouths and swallow without chewing. Even when these bad eating habits of otherwise well mannered children and adults become self-esteem issues – teasing in the lunchroom, reprimands at the dinner table – the Food Bolter cannot seemingly overcome this habit.

The Chipmunk and Food Bolter are in dangerous territory. At least two persons with the FG Syndrome have died from suffocation when choking on food. Sleeping Chipmunks can aspirate. Parents need to be alert to and monitor these common eating habits and pass this important information to schools and programs where the child might eat. Gentle reminders to the Bolter to slow down, take smaller bites, chew and swallow during mealtime help. Parents might want to cut up and separate food such as meat, pancakes, omelets or casseroles into smaller bites so that at least it is not being swallowed whole if not chewed properly. Parents should always check that the Chipmunk has emptied his mouth. Becoming certified in First Aid and CPR is a wise move for parents of Chipmunks and Bolters as choking and aspirating are serious, life-threatening emergencies. Please contact the Red Cross for local programs in your area. The cost is usually minimal and is a small price to pay to alleviate the feeling of panic and helplessness when faced with a situation of a choking child.

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Fatigue

Parents frequently report that their children with FGS become fatigued quickly when walking long distances. Hypotonic leg muscles and other traits of FGS can limit the child’s ability to participate in long walks, mall adventures, trips to amusement parks, hiking, etc. Parents learn to find that fine line between the need to exercise those little legs in order to strengthen those muscles and the impracticality of making a trip miserable for everyone! Some practical solutions include: Obtaining a parking placard for persons with disabilities for those long walks through parking lots (application includes a letter from a doctor), using available (and generally free) wheelchairs at zoos, amusement parks, etc., purchasing a convenient “push chair” for your child. There are several different types of lighter weight chairs for older kids and adults that collapse for storage & travel. (Medicaid might approve payment with a doctor’s script). Simply leave them at home! Sometimes parents feel guilty about doing this, but in reality, the child might be a lot happier. NOTE: Leg fatigue in combination with other traits might indicate Tethered Cord Syndrome.


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Hearing & Ear Anomalies

(Excerpts from introductory article in FlaGStone, May, 2001)

Simple low-set, off-set ears are a physical trait of the FG syndrome. Like all other traits, they range from barely noticeable (if present at all) to severely malformed. Several children with FG – with or without this trait – experience conditions of the ear that can be troublesome throughout their lives. A large number of kids suffer from Otitis Media (middle ear infection), and many end up with tubes in their ears to drain the fluid and mucus that builds in the middle ear. Many kids outgrow this condition, but for others it becomes chronic. Several parents have reported that their children have very tiny ear canals. This often results in wax build up that can limit hearing. It stands to reason that wax is unable to run out naturally in such tiny canals. Precautions should be taken to have wax removed routinely by an ENT (otolaryngologist) – and never with the standard “water flush” method. Water also gets trapped in those tiny canals and moisture can result in painful and itchy ear fungus. Precautions also might need to be taken when swimming or showering as “swimmers ear” could develop in tiny canals. Another aspect of the FG syndrome that can affect the child’s hearing is auditory language dysfunction. Loud noises, commotion and simple sounds can affect the senses and be quite disturbing to a child with sensory dysfunction. There is a broad range of hearing loss amongst our FG family, as well. The causes range from congenital (auditory nerve and ear structure anomalies such as ear drums that do not vibrate or are flat), to the result of damage to the ear drum or auditory nerves due to chronic infection, or a combination of both. Some loss is mild enough that treatment is not necessary. But, some of our children wear hearing aids.div>

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Hyptonia

For parents, hypotonia is often one of the earliest medical traits we learn of for a child who might eventually be given a clinical diagnosis of FGS. Hypotonia is defined as low or “floppy” muscle tone, and for children more severely affected, it is a major factor in delays in physical development. An infant whose neck muscles cannot even support his own head certainly won’t develop the ability to sit, crawl, or walk at an expected age. But, more than one parent whose child is diagnosed with “mild” FGS because of other related traits, is surprised to learn that their child is also hypotonic, perhaps only in the upper body, as often the child reached those expected physical milestones at a normal rate. The benefits of physical, occupational and other muscle-stimulating therapies become familiar to parents of the hypotonic child. Still most parents are not aware of the many other congenital anomalies exhibited by their child that are also related to hypotonia. The article, “FG Syndrome Update 1988 : Note of 5 New Patients and a Bibliography”, , includes a description of the effects of hypotonia. It includes reduced fetal movement, crowded toes, sloping shoulders and an eye squint as traits of hypotonia. In addition, the following traits, with definitions added, were included in that description.
  • Constipation: Difficulty with bowel movements, although the severe degree seen in FGS patients might also suggest additional CNS (central nervous system) effect.
  • Cryptorchidism: One or both testes fail to descend normally.
  • Deep Plantar Creases: Creases in the soles of the feet.
  • Genua Recurvata: Knees that bow backward.
  • Herniae: Protrusion of organ or part through connective tissue of wall.
  • Hypotonic Mouth Breathing: Breathes regularly through mouth instead of nose. (May result in gum issues later in life).
  • Hypotonic Visceoptosis: Downward displacement of organs in the abdominal area.
  • Joint Contractures: Permanent shortening of muscle or tendon, limiting movement at joints.
  • Joint Hyperextensibility: Muscles, tendons stretch to greater degree. “Double jointed” effect.
  • Lumbar Lordosis: Exaggerated forward curvature of the lumbar region of the spinal cord.
  • Lymphodema: Edema (fluid) due to faulty lymphatic drainage.
  • Malloclusions: Abnormal coming together (crooked) teeth.
  • Mandibular size and angle: Effects on size/angle of the jaw
  • Palate size and angle: Roof of mouth is often deep and narrow.
  • Pes Plantus: Flat feet.
  • Protuberant abdomen: Bulging, prominent stomach area.
  • Ptosis: Drooping of upper eyelid ( “p” is silent)
  • Respiratory Pectus: Chest depression produced by sinking of the sternum.
  • Scoliosis: Lateral curvature of the spine.
  • Simean Crease: Deep crease extending across the palm that results in fusion of the 2 normally occurring creases.
  • Winged Scapulae: Shoulder blades protrude, suggesting a “wing” effect.
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Macro- Or Megalocephaly

Defined as “larger than normal head size”, Macrocephaly (also Megalocephaly) makes it more difficult for the child with hypotonic neck muscles to learn to support his head. But, while some children with FGS have more serious hydrocephalus, generally a large head becomes more of a hassle over the years, than a difficult trait. Parents report getting used to stretched-out shirt collars from pulling them over large heads, and the never-ending problem of finding a hat to fit in winter!! Very large “beanies” have become the hat of choice, stretching far enough to also cover very low-set ears.

Obsessive/Compulsive Disorder

(Excerpt from Nov. 2001 FlaGStone. Introduction to several OCD articles.)

While only a few children and adults with FG in the Alliance have been diagnosed with and receive treatment for Obsessive – Compulsive Disorder, many children with the syndrome have obsessive tendencies. They become fixated on an object, a topic of conversation or a fear, and are not easily redirected to something more appropriate. Obsessive behavior can range in severity from harmless and annoying to a debilitating condition without proper treatment.

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Positive Array CGH Testing

(From FlaGStone, a Mom’s response to positive CGH testing)

Ever wonder how you will feel when the call comes in…”We’ve found it…your child’s blood test has CONFIRMED FG Syndrome”? What about the flip side….”Testing proves your child does NOT have FG Syndrome.”

FG Syndrome has been a part of my life for about 8 years, almost as long as I’ve been a mom. My oldest son was diagnosed with probable FGS when he was 8 months old by a local geneticist. When the doctor gave us the diagnosis, the information he gave us was almost nil. My husband soon found the FGSFA website at work, and because we weren’t connected to the Internet at home back then, started printing off all the posts from the listserv each day to bring home to me.

It only took a little while to become addicted to the daily news from the other FG families. I had finally found a world where people were going through similar situations, and discovered that I wasn’t the only mom in the world who, by virtue of an unsolicited crash course in pediatric medicine, could speak fluent medical jargon! What’s more, FGS was no longer this terrible syndrome listed in a book, but a big family of remarkable people who opened their hearts to me. Needless to say, I finally got the Internet at home so I could share with all my friends who didn’t yet know I existed.

We were able to make the 2005 Conference and learned about the research study being done at Greenwood Genetics Clinic, so we set about to submit blood samples. A new developmental pediatrician my son had been seeing asked if we’d like to have additional testing done since we were going in for blood draws anyway. She informed me that the tests available had come a long way since he was a baby and although it was a long shot, it might be interesting to see if anything turned up. We agreed without hesitation: the more information the better, right?

To say I was startled when I received a call from the doctor a couple of weeks later is putting it mildly. It is never a good feeling to hear a doctor’s voice on the other end of the line when you aren’t expecting it! “Are you sitting down?” I panicked! What could this be?! “They found something on his genetic test. He is missing a small piece on one of his chromosomes.” WHAT? WHAT DOES THIS MEAN?! Sadness hit me like a wave. I replied without thinking, “Can you put it back?”.

Silly thing is, nothing changed about my son. But in that moment I came face to face with the culprit that has created so many challenges for my precious baby. Emotions, long ago put aside because there was no test, came rushing in. After some research, we learned that this means my son has been excluded from the FGS diagnosis.

I have been increasingly involved in the FGSFA over time, and just before receiving this news, I had become a member of the Board of Directors. I had to decide what this meant for my relationship with the organization and how it was going to affect my family. The mission statement of the FGSFA includes individuals and families affected by FG Syndrome, or related disorders, so the choice was mine. I have called this organization family for many years, and so it remains. My son’s life continues to be enhanced by the information that is shared here. My hope is that if you should ever find yourself in a similar situation, you will still feel welcome here too. After all, at the end of the day, we are all in this together.

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Seizure Disorders

(Parent responses taken from the January, 2000 issue of FlaGStone)

“My son had his first seizure at 2 months. He is not conscious of what is happening during a seizure episode. He would not be able to stand and would fall to the ground if we did not hold him, his body would “jerk” and he would vomit. This is what is referred to as a Tonic/Clonic or traditionally know as grand mal seizure.”

“Our son began having absence (petit mal) seizures that looked like staring spells. He would stare into space for about 3-4 seconds then have nystagmoid movement of his eyes (rapid back and forth movement). These spells were happening 20-25 times a day. Since April, he has begun having several tonic/clonic (grand mal) seizures.”

“Our son started getting seizures in July (3 yrs. 2 mo.). What happens with him is that all of a sudden he will come over to you and whisper “it’s OK, it’s OK” with a blank look in his eyes. He wants to be picked up and rocked back and forth while moving his head from one shoulder to the other. He also swallows constantly like he’s going to throw up. This whole episode lasts five minutes or so.”

“ Our son did not start on seizure medication until he was 5 or 6 when the absence spells increased in frequency and duration. They were interrupting his ability to concentrate at school. He is regulated and has not had any major seizures for 2 ½ years.”

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Sibling Support

Parents often express concern about their “typical” children, worrying that the child with FGS diagnosis takes up too much of their time and thus his sibs are neglected: that they face difficulties at school because of their sibs with FGS; that they may ignore or be embarrassed by their sibs with disabilities. Parents generally learn, however, that typical sibs do just fine. There might be rough spots now and then, but not so different than in an otherwise “typical” sibship. And, in fact, they often gain insight and maturity beyond their years, thanks to experiences with their sibs with disabilities. Here are a couple of articles from FlaGstone written by sibs, as examples of that insight.

(This 9-year-old won 2nd place with this essay for a national charitable organization contest on the subject “Children Helping Children”) “Hi! I have a sister who is 8 and a brother who is 5. My sister has arthritis and my brother was born with Opitz FG Syndrome and isn’t as strong as most of us. It feels great to help a brother and sister who have special needs. Being kind, helpful, and sensitive to all children, including those with special needs, is the key to helping them out. I love my brother and sister very much. I like helping to play games and do gymnastics. I also introduce him to my friends and teach other kids that he is no different from any of us. It is sometimes hard for my sister to do sports and activities, like two square, handball, and baseball, so I usually pick her on my team and we usually win. It makes us both feel good.

I think that you should have patience with everyone, but extra patience for kids who seem different or have a hard time doing things that are easy for most of us. You can also help by making people feel good by helping them to get a little better at something. I bet it would make them feel good. You should never tease some kids because of their special needs, because one day it could happen to you. Also, we all have differences about us because none of us are perfect. But, I think my brother and sister are perfect just the way they are.”

(An adult sibling shared this experience with us) “At a disabilities conference attended by my family, we were sitting at dinner when I received praise. In the most sincere way, a mom turned to me and said, “I would like to commend you for advocating and staying a part of your brothers’ life.” And I started to laugh. She said, “No really, I wish that my daughter was still supportive of her sister.” I looked at my brother and we both gave each other a look like “here we go again”. “Trust me,” I said, “it hasn’t always been this way.” Well, due to her statement, a few other parents joined us, all sharing their experiences on how they have children who were once very close, but now the typical sibling was almost pushing away or had moved out after high school and wasn’t involved with their sibs who have disability.

I asked this first Mom a little bit about her situation and she told us that she has two daughters, a fourteen-year-old and a seventeen-year-old who has Down syndrome. The girls go to the same high school and used to be very close. Now the fourteen-year-old is ignoring her sister for some reason. The main concern is that she also ignores her in the hallway and Mom is afraid that little sisters’ friends will start to do the same. Well, I started to feel bad for this older girl. I never had the experience of attending the same school as my brother, so I asked Mom how her older daughter was handling it. She said, “She doesn’t comment on it much. She has her own friends.” So in this situation, it wasn’t really a problem, except in Mom’s mind. I told her to be patient and to not push their relationship. What was happening was completely normal even in a “normal” sib relationship. I asked her and the rest of the folks at the table if they had any siblings, and if so, have they been the best of friends all through growing up and remain so today? They laughed!!

The next situation was a little different. Mom #2 was actually a little more upset because her daughter graduated from high school and moved away from the family. She is now 22 and starting a family of her own. She said it broke her heart because the siblings used to be so close. They still visit at holidays and such, but it seemed with her moving away, that a part of the support system was lost for the child with a disability. I explained a little about how I had distanced myself at different stages of life and that it was normal…and so on and so forth. All I heard from the folks at the table was “yes, but” this and “yes, but” that, and even though they didn’t come out and say it directly, there was a lot of blaming, and feelings of being let down by their “typical” kids. How could I make the parents see it from our point of view? I will let you in on what I said, and will leave you with this.

I turned to this parent and asked, “How old were you when your child with a disability was born?” And, she responded, “Twenty-three.” I continued, “So, for 23 years you had known a life of “normalcy” without disability in your life?” She said, “Yes.” And, I replied, “We were born into a life that is affected by disability. We don’t know what “normal” is like. Can you blame us for wanting to find out?” Needless to say, the table became silent.”

Parents might want to get their kids involved in Sibshops, which are lively, action packed, 3 hour workshops that celebrate the many contributions made by brothers and sisters of kids with special needs. Sibshops acknowledge that being the brother or sister of a person with special needs is for some a good thing, for others a not-so-good thing, and for many, somewhere in between. They reflect a belief that brothers and sisters have much to offer one another- if they are given a chance. The Sibshop model mixes information and discussion activities and games. Learn more about Sibshops by visiting the Sibling Support Project Website at http://www.siblingsupport.org. Click on “Sibshops” to find a Sibshop near you. Also click on “Connect with other Sibs” where adult sibs will find a multitude of resources, or your kids can join SibKids, a monitored listserv for sibs of kids with special health care needs or disabilities, and meet brothers and sisters from around the world!

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Speech Delay and Communication

Speech delay is one of the important “red flags” for an FGS diagnosis. However, over the years parents, as well as medical professionals, have reported that, despite their lack of verbal communication, the’ receptive communication skills of kids with FGS appear to be much higher. Thus it is very important to consider Speech Therapy through Early Childhood Services, as the more receptive language the child absorbs; the easier it will be for him/her to translate that knowledge into verbal language if and when he begins to talk. The following is a list of generalities, based on parent accounts on this topic, reported over the past decade through the FGSFA:

  • There appears to be no standard expected age when a child with FGS might begin to talk. Children with FGS have reportedly started talking as early as 2 to 3, but might not speak until a much later age. Some children clinically diagnosed with FGS never reach this milestone.

  • Parents often relate temper tantrums to the lack of communication skills due to the child’s frustration to not be understood. They also find it extremely frustrating to determine whether negative behavior is due to a behavior issue, or perhaps an expression of sickness or pain that cannot be communicated.
  • Sign language has been a useful tool to help some children communicate, if they are able to physically form signs. Talk with your speech therapists about starting with some basic signs. Some kids develop their own unique signs in the process that families learn to understand.
  • Picture Boards and Picture Books made up of items that the child can point to, expressing his wants and needs, can be very helpful. These can be as simple as demonstrating basic needs (Mom, Dad, juice, drink, potty, eat, etc.), to a whole book of pictures detailing the daily routine and the likes and dislikes of the child. Actual photos of persons in his life as well as pictures cut from magazines can be used for a “home-made” personalized picture board or notebook PECS is a commonly used program of pictures.
  • Augmentative Communication systems are often helpful, especially for the school-aged child. Tools such as the Dynovox or more recent IPad Aps allow kids to address others and initiate answers to yes/no questions or to express their personal needs. Not only do adaptive tools improve communication, but empower a child who has depended on good guesses from others, to express himself more freely. Frequently, these tools can be purchased through Medicaid. Again, check with your Speech Therapist and educational team about the readiness of the child to learn to use augmentative communication equipment.
  • Interesting to note, quite a few kids with speech delay, learning to use an alternative form of communication through augmentative communication tools, sign language, etc., suddenly begin to speak on their own. Coincidence? Were they ready to find their voices anyway? Or, by giving them the power to limited communication through alternative means, were they inspired to use speech? We don’t have a clinical answer to this amazing phenomenon, but for those who have experienced it, hearing their kid’s voice forming words for the first time was nothing short of miraculous.
  • Some parents have reported throughout the years that, once a child begins to talk, there is no stopping him!! Parents are amazed at how quickly some non-verbal children become avid communicators, first using words that quickly develop into short sentences and then on to conversations.
  • Even verbal children might have difficulty with communication skills. There are all sorts of auditory processing difficulties, which can be identified by a specialist, which might interfere with their ability to respond correctly. They might hear an instruction, but not be able to process it well enough to act upon it appropriately. For example:
  • Some children cannot handle more than one or two-part commands. “Go to your room, put on your shoes, and make your bed” might result in going to one’s room and getting involved in play, as the child might not process beyond the first instruction.
  • Literal thinkers might need very specific instructions. Even the child who “gets ready” for school every morning for months, might not be able to translate a phrase “it’s time to get ready to go” as putting on his coat and retrieving his lunch, back pack, etc. He might need the specifics!
  • Speech defects are common amongst kids and adults with FGS. Wise parents become helpful interpreters for folks who are having difficulty understanding the child, but will always encourage the child to give it his best shot before stepping in to help with a conversation.

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Temper Tantrums

(Excerpt from July, 2002 FlaGStone – Introduction article)

Parents on the listserv refer to the temper outbursts of their children with FG Syndrome as “meltdowns”, “rages”, “fits”, “explosions”, “rampages”, “knock-down-drag-out-fights”, etc., which are much more appropriate descriptions than “temper tantrum”, bringing up visions of a small or spoiled child crying and screaming to get his/her own way. The FG tantrum behavior is one of the most physically and emotionally draining traits that families endure. It has the potential to disrupt all normal activity for sibs and parents alike. The behaviors often last into (and sometimes don’t start until) the teen/adult years, and can change over the years from the typical kicking/screaming tantrum to verbally and/or physically abusive behavior. Some children in puberty have even become sexually suggestive during temper tantrums, seemingly not able to separate the emotions of anger and frustration from their new found sexuality. The otherwise pleasant, social, lovable child takes on a very opposite personality during a tantrum. It is fairly conclusive that this trait is of an organic source, and generally not the result of poor parenting skills or the hardship of a difficult childhood. Clinically, there have been numerous reasonable explanations offered. Tantrum behavior might be a reaction to Sensory Integration Dysfunction (SID), Attention Deficit and/or Hyperactivity Disorder (ADD or ADHD), or Obsessive/Compulsive Disorder (OCD). It has been suggested as a reaction to the frustration of communication delays or the reaction to pain of an unknown source — the list of disorders and possible reasons for the FG temper tantrum appears to go on and on. But, for whatever the diagnosis, parents need to find a good behavioral program to offer them support.


Tethered Cord Syndrome

Several children with FG have experienced the symptoms of tethered cord – toe walking, leg pain & fatigue, incontinence (both bowel and urine), inability to maintain a urine stream, etc. For many, Tethered Cord Syndrome is ruled out because it does not show up on the MRI, those reading the MRI are not experienced enough to see it, or criteria for TCS on an MRI differs strongly between those reading it. A few neurosurgeons have gone forward with surgery anyway, even if tethering was not evident on the MRI. The following excerpts are from the March, 2003 issue of FlaGStone. They include reports from parents whose children were amongst the first cases of suspected Tethered Cord reported in our FGSFA family. Since then numerous children and adults with FG syndrome have had successful corrective TCS surgery, but even years later, many still report going through the same difficulties in pursuing this diagnosis.

Pursuing evaluation: Those with questions related to the possibility of a tethered cord are urged to call your Geneticist or other physician who follows your child for the FG Syndrome and state your concerns. Being a mom and wondering if this is an issue or not, I will feel better when I have had him examined by a Neurosurgeon. If you believe that there is a question surrounding the possibility of your child having a tethered cord, I would encourage you to request that your child be given a thorough workup related to a tethered cord. There is no harm with having your child evaluated by someone who is familiar with treating tethered cords. Good luck!

A successful surgery with no evidence on the MRI: The baffling part was that while my son had the clinical features of Tethered Cord, on his MRI his filum not only looked normal, but even a little bit loose. However, his urinary difficulties increased, his vesicouretal reflux worsened to a grade four, and his gait was steeply declining. As a result, our neurosurgeon recommended we do the surgery to release his cord despite the negative MRI. Her reasoning? The surgery is relatively non-invasive and carries low risk. We saw immediate improvement. The next day, he got out of his hospital bed went to the bathroom and laughed hysterically at his thick, strong urine stream. Then, he walked down the hospital hallway with a perfect heel-toe gait. We returned home and he quickly recovered. Best of all, the pain in his legs was gone. He had been complaining about leg pain for the better part of three years before his surgery. About six weeks after the surgery, while driving down the street he out of the blue said: “Mom. The owies in my legs are all gone! No more owies!” Releasing his tethered cord made him pain free, continent, provided him with improved renal health, and improved his balance, gait and performance in school. It has even helped with his constipation. For us, it was nothing short of a miracle. The lessons we learned from all of this were to never stop questioning the mysterious symptoms of the FG Syndrome. “It’s just part of the syndrome” is not an acceptable answer when your child is suffering and in pain. As well, I learned that while MRIs are powerful, they don’t always tell the whole story. When tethered cord is suspected, it is important to have a complete work-up— not simply an MRI. Don’t be afraid to ask about tethered cord, push for further testing, or to seek a second opinion. I can say without hesitation that this surgery changed his life.

After a successful surgery based on clinical evidence only: Our advice is to be aware of the clinical symptoms that are being described and know that sometimes our children can have a true explanation for pain or inactivity or sudden changes in behavior that sometimes are difficult or impossible to see radiographically. I just want to wish you all the best in this process and keep us posted on what happens with your children. Please take care and give the guys and gals hugs for us!

Tethering was apparent on the MRI, but dismissed by several specialists: We sought further opinion on the same set of MRIs that had been read as negative for TCS by several specialists, even though my son had most of the traits. Finally, a Pediatric Neurosurgeon pointed out several signs on these same MRIs that indeed indicated tethering to her. My son has not experienced nearly half of the doctor visits, surgeries and tests that your children have. It makes me ill to think of all of the pain and stress he went through because we didn’t push harder — sooner. To think after 3 years, it was all fixed with a 25 minute non-invasive procedure with the hardest part being to lay in a bed for 24 hrs. and play video games. His only complaint was he hated the catheter! I mean really hated it! He came out of surgery sobbing, not from any pain, just wanting the catheter out! Until he had his tethered filum repaired, there really wasn’t but some struggles that he experienced early on in life that even pointed to FG. When he had the surgery and found that it was in fact tethered, I remember talking to others and I think we were all a little blown away. What does this mean? Is this a bridge between the typical FG and the Mild? If your child is having the symptoms, please, please, please have it checked out! From a parent who was sick of her child suffering for nothing!

MRI findings were debated amongst the professionals before successful surgery: The hardest part about this condition is that it is not an easy diagnosis to come by since manifestations can be interpreted in different ways. It appears that it is currently a condition given consideration only in a few syndromes where it has traditionally been found, and then only by a relatively few doctors. It is only recently being noticed in FG children, however, hopefully as more doctors become aware of this condition and its manifestations, it will be easier to come upon an accurate and definitive diagnosis.

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Upper Respiratory Infections

In our Sept. 2002 issue of FlaGStone, a pediatrician from Utah shared his list of tips to help us avoid Upper Respiratory Infections, defining them as any infection above the voice box, including the common cold, croup, throat infections or pharyngitis, ear infections and sinus infections, the last two being particularly troublesome for children with FGS. He suggests that while the immune defect that makes children with FG prone to infections is unknown, steps can be taken to attempt to prevent infections, especially in the winter months. His lists suggest everything from Flu Shots to washing hands frequently, to using a tissue instead of a handkerchief.

*All information contained herein is for informational purposes only. Readers are encouraged to confirm the information contained herein with other sources. Readers should review the information carefully with their professional health care provider. The information is not intended to replace medical advice offered by physicians. The FG Syndrome Family Alliance, Inc. will not be liable for any direct, indirect, consequential, special, exemplary, or other damages arising herefrom.

Alphabetical List of Common FG Experiences (click for more information):

Autism
Cardiac Anomalies
Chronic Constipation
Coping
Difficult Eating Habits
Fatigue
Hearing and Ear Anomalies
Hypotonia
Macro or Megalocephaly
Positive Array CGH Testing
Seizure Disorders
Sibling Support
Speech Delay and Communication
Temper Tantrums
Tethered Cord Syndrome
Upper Respiratory Infections