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Fragile X Syndrome

Fragile X Syndrome Poster Child
TJ Therrell

Fragile X Syndrome Poster Child
Eric Therrell

Introduction

Fragile X is a genetic disorder that is caused by a break or weakness on the long arm of the X chromosome (females have two X chromosomes and males have one X and one Y). The gene where the break or weakness has occurred has been named FMR1 (Fragile X Mental Retardation-1). Because of this defect, the gene cannot manufacture the protein that it normally makes, which causes the features and characteristics of the syndrome. Fragile X is estimated to occur in 1 in 1,200 males and 1 in 2,500 females. It occurs in all racial, ethnic, and socioeconomic groups. It is said to be one of the most common genetic diseases and is the most common inherited cause of learning disabilities and mental retardation known to exist.

Fragile X is, as mentioned above, inherited. Fathers who are carriers can only pass the affected gene on to their daughters. The reason for this is that for males, the father always gives a Y chromosome and the mother always gives an X chromosome (if the father gives an X chromosome instead of a Y, the child would be female). Therefore, in order for the father to pass the fragile X gene, the recipient would have to be a female. Mothers who are carriers have a 50% chance of passing on the fragile X mutation to their children. Females tend to be more mildly affected by the fragile X gene than males because females have a second X chromosome to compensate for the defective gene on the affected X chromosome. It is estimated that 1 in 259 females, in the general population, can carry the fragile X mutation either as premutation or full mutation. Those with premutations are generally unaffected intellectually and of those who carry the full mutation, approximately 50% will display a learning disability, intellectual deficit, or mental retardation.

The fragile site on the long arm of the X chromosome was first described in 1969 by Dr. Herbert Lubs. By the late 1970's, the disorder was named fragile X by Dr. Grant Sutherland, who was studying the occurrence of fragile sites. Though the disorder was identified 20 years ago, it has only come to the public’s attention within the last ten years. Therefore, many individuals with this syndrome are undiagnosed.

 

Features and Characteristics

There are several physical and behavioral characteristics that are associated with fragile X, however, not every individual has all the characteristics. The following is a list of the most common traits:

 

Diagnosis

Fragile X is diagnosed by a DNA blood test. The newly available test, which was developed in 1992, is very accurate and can detect fully affected individuals as well as carriers. Diagnosis can also be made prenatally as early as 10 weeks gestation (using the CVS method). Because not every symptom is present or is subtle, a diagnosis of fragile X may not be considered. However, genetic testing for fragile X should be considered if:

 

Treatment

There is no cure for fragile X, however, an early intervention program for children less than three years of age and a special education setting (or modified curriculum in a regular education class) for children over three years of age can be very beneficial. Speech, physical, and occupational therapy also may be necessary. Speech therapy is of particular importance since speech and language are almost always affected.

It is recommended that the individual’s overall development be assessed to determine the strengths and weaknesses of the child’s abilities so that an appropriate treatment plan can be implemented. Some children with fragile X can participate in a mainstreamed education. This is the most preferred option since the children often have behavior problems and can learn from the other children around them. The typical classroom situation can be very busy and stimulating, however, it can over-excite the child with fragile X and lead to tantrums, withdrawal, repetitive behaviors, and further disrupted speech patterns. Therefore, it is recommended that:

The curriculum, in most cases, will have to be modified to some extent for the child with fragile X, most often in mathematics and handwriting, and additional classroom support may be necessary. Reading and spelling, however, tend to be the child’s strengths. Children with fragile X learn best with visual methods and whole word, number, and pattern recognition (preferably with pictures). They also have strong imitation skills (which is why mainstreaming is so important) and strong functioning life skills.

Though there is no cure for fragile X at this time, gene therapy may, in the next 10 years, become a treatment option for individuals affected by the fragile X gene. Medical research has been focusing on and studying the gene that causes fragile X and determining whether a healthy gene can be inserted into the DNA, replacing the mutated gene. In addition, the protein that is lacking in the affected gene is also being studied in the hopes that the protein may be supplemented from an external source.

 

What to Expect

Individuals with fragile X are affected differently. Those with a mild diagnosis can be employed, live independently, and function normally. Others may need some educational strategies implemented at a young age which will allow them to function independently as adults. Those who are more severely affected, however, may require long term support.

 

Personal Stories

My two boys, TJ and Eric, are the two beautiful fragile X blessings in our life. They both have delays in development, in all areas. They have obsessive compulsive behaviors, autistic behaviors, and verbal delay. If I had to do it all again, I would not change one single thing. These two children have taught us more than most people will learn in a lifetime. The smallest things are the true gifts that we take for granted. They are so happy and sweet; I can't imagine my life without them. I am truly blessed. - Marilyn Therrell


My son was diagnosed at age 2 years (just this past January). I'll back track from there.

It all started when he was two years old and was at his 2 year well-child check-up. I mentioned to our pediatrician that he still wasn't talking. We were sent to various specialists. The first stop was a hearing test. That came back normal. From there we went on to the neurologist, the speech specialists, and finally, on to the behavioral psychologist. It was this last person that decided to mention fragile X to us, but thought it was a long shot. Well, the results were positive. We finally knew what the problem was, however, I wasn’t sure at that point if it was good or bad. Everything I read about fragile X was so negative and described worse case scenarios. It was terrifying. We were also dealing with a diagnosis of juvenile rheumatoid arthritis along with the fragile X diagnosis. If and how they are related we do not yet know. I guess only time will tell us that.

During this time, my son had been attending a local early intervention program and was doing wonderfully. He had really come out of his shell and was a real little man.

The symptoms that lead to the diagnosis of fragile X in my son were really only his speech problems. He did everything else "on time" or in the "normal" range of things for a child. He could walk at 12 months, but chose to really start walking/running at 14 months. He babbled like any other child - and still does! He understands what we ask of him, just as any child of his age does. He is doing other things that other children do too - he likes to dance (especially in his sister's tap shoes) and he can dress and undress himself within reason. He is now working on toilet training and so far so good. He was always a child that didn't like to be held or touched, but that has changed in the last 6 months too. He is now quite affectionate and loves to give hugs. He loves his baby sister something awful and is the best overprotective big brother she could ask for. He plays well with other children and his older sister. There is one thing that I've been told was due to his fragile X status that I did wonder about: He could not breast-feed as an infant and did have extreme trouble feeding at first. We were told it was from his high palate, but now we've been told that the high palate is related to the fragile X.

Nicholas was a full term baby (C-section delivery) and beautiful at birth. He had some good sized ears, but he looked just like my grandfather who also had quite a set of ears. We just figured it was genetics - and not the fragile X type of genetics!

All in all, he is a sweet, lovable boy who is learning something new every day. He is a very visual learner - when showing him how to do something, we have to show him the correct way the first time because that is the way he will always do it. He likes routine and predictability. He is a clever energetic little boy. He understands far more than I think we give him credit for. And, he is great at trying to get your goat. - Lexi Weber


Matthew is such a wonderful part of our lives that we can almost forget that fragile X is also in our family playing its part. I knew from about the time Matt was 15 months old that something was different. He was my first child, but that in no way made me feel like I was overreacting or doubting my feelings that there was something different about him. He crawled and walked at the average age, but his speech development was severely behind. That was my major concern; at 18 months he had absolutely no speech - not even the normal "mama" or "dada" - just crying and laughing. He was sensitive to sound and did not like to be held or touched more than what it took to have his needs met. As it turned out, we went to Riley's Hospital in Indianapolis and the diagnosis was made - Matt has fragile X syndrome, a full mutation, and he inherited it from me, a carrier of this fragile chromosome.

He is now six years old and doing well in kindergarten, but also still nonverbal. He does make attempts to speak (I think I've heard him say "mama" and "no") and his attempts at the letters in the alphabet are getting really good. I'll be honest when I say that I'm waiting for the day for him to say something complete like "I'm hungry" or "I don't feel good," so that it gives me an idea of what is going on in his mind. The days I feel frustrated with him, I have to remind myself that if I'm frustrated, what is he feeling? With no words to communicate, he must be more frustrated with us than we could ever be with him. I'm sure one day the speech will come and he will be like other fragile X boys and talk nonstop, so I keep my hopes up and a smile on my face as each morning he goes running and laughing down the driveway to meet the school bus, full of happiness and anticipation of what's to come. - Anna Burus


We knew, early on, that there was "something" just not right with Josh. He was born in April of 1992 after a reasonably uneventful pregnancy, and is my only child. Although he had a hard time breast feeding (both of us did, actually), after going on to a bottle, he had no problems feeding and has had no problems growing and thriving physically (he’s in the 50th percentile all the way down the line). He has always been a content and happy baby/kid.

When he started showing significant delays in normal developmental steps (rolled late, sat late, never really crawled, wasn’t potty trained, verbalized late, and walked late), I began questioning his pediatrician. The answer I always got was, "Don't worry, he will catch up." As school time began to approach, it was clear that he was NOT catching up and needed more investigation. I had him evaluated by the local school district for entry into kindergarten at age 5 under a special needs program. He was evaluated, and although we did not know exactly what was going on (they had several theories from Asperger's to autism), they qualified him because of his speech delays.

His special education kindergarten teacher (a wonderful teacher, by the way) observed him and suggested that he be evaluated by a pediatric neurologist. She suggested a couple of things, including something called fragile X syndrome. He was given an MRI (the results were perfectly normal) and a blood test, which came up positive as a fully affected, methylated fragile X kid. He is considered to be moderately affected and moderately retarded. Well, after crying for about a week, I got down to business. I contacted the local Fragile X Association (located in Walnut Creek, CA) and started educating myself. I signed Josh up for the quarterly intensive medical evaluation that is run by the Fragile X Association and Oakland Children's Hospital in CA. We were greeted by a caring, attentive staff that gave my son an intensive 2 day evaluation (medical, psychiatric, OT, speech). The staff then presented a report that included where my son is now and recommendations on what needs to be done to move him forward. The school district (Oak Grove in San Jose, CA) has been terrific. They took the results from the assessment in Oakland, put it into his IEP, and have been serving him with speech therapy, occupational therapy, and adaptive PE services. He is thriving!

To show what can happen with a child when they are given the proper support services, when Josh was first assessed by the school district (December 1997), it was determined that speech delay was his greatest weakness. Upon entering school, he immediately received speech therapy. After 1 year of speech therapy, speech is now considered one of his STRENGTHS instead of his weaknesses. We are hoping that we will get the same kind of gains with his motor skills now that he has begun occupational therapy. Josh's strengths are: He is a bright, happy kid who will always try almost anything; he is self-confident, engaging, verbal and social; he processes information very well auditorally and loves to sing; he is also very gregarious and loves to be at the center of attention (unless he gets too much attention and gets overstimulated); and he respects authority well and generally responds to redirection and "time out" when misbehaving. The areas where Josh needs to improve are: visual processing, fine motor skills, vestibular and proprioceptive skills, and attending skills (when not being directly supervised).

My goals with Josh are (in order of importance): to love all of him; to help him to respect and love others; to help him to make the most of his strengths; to work with him on his areas needing improvement; and to help him find interests and hobbies that he can build upon.

Raising a kid with special needs is not easy, BUT, I can always find a reason to celebrate something about him every day (if I look carefully). I have my days where I just want to give up. But there are more days when he just makes me laugh or weep with pride. I live for those days and try to keep those days in the forefront of my memory to help with the days when I want to give up. He is a sweet, fun and really special kid.

I have to give a lot of credit to other special people in Josh's life that help him grow and thrive: both sides of his family for accepting him for where he is and his teachers and therapists for caring and drawing him forward. - Diane Thompson


My story is a bit different from others which you may receive, first because I am an Australian and secondly because I have fragile X and so do both of my daughters. I am 40 years old and from a very early age, I knew that I was "different" from others and people thought I was "not normal." My parents took me (and my brother who is more severely affected by fragile X) to the Royal Melbourne Children's Hospital, but in those days, they didn't know what was wrong. School was hard for me. Reading and writing were very difficult, but I was better with numbers. One good thing was that I was excellent at sports and this was a salvation because while I wasn't accepted in the classroom, the other kids wanted me on their team on the sports field.

Now I am married, and I am led to understand that this is not too common in men with fragile X. I have three children, two girls (ages 8 and 7 years old) and a 3 year old boy. Both of my daughters have fragile X (Erin, the oldest, being more seriously affected). We found out 2 years ago what was wrong when our local doctor requested genetic testing. I can tell you that at that time, I was not too rapt and felt very, very hurt and angry that no one had been able to tell me "why" and what was wrong for all those years. Now though, I'm glad to know what is wrong because it will help me with my daughters and the knowledge will help them with their children.

Erin is now in Grade 2 at school. She is very much like me and she is struggling with school work. She has also been diagnosed as having ADHD - which I have as well. She is on medication (Ritalin) which helps to settle her down while she is at school and makes it easier for her to learn. Erin has an integration aide for part of her school day who does one-on-one work with her. Like me, she is having problems with reading and writing but she seems to be better with numbers. Lately she has become very clingy and comes to me when other people don't understand her. She knows that I will understand because we are alike. Most of the time she is a happy-go-lucky little girl who loves to help everyone, especially her mum. She has a great sense of humor, just like me, and loves to have a laugh. I feel like I am her Guardian Angel because I can protect her and explain things to her - things that "normal" people don't understand. - This story was submitted by David Fry, father of Erin and Tara Fry, all of whom are affected by fragile X. As David has difficulty with written language, he asked Cath Harwood to write his story in order to help others and to give them hope.

 

Resources

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

Fragile X List - Send an e-mail to LISTSERV@LISTSERV.CC.EMORY.EDU, leave the subject field blank, and in the body of the e-mail type the words "SUBSCRIBEFRAGILEX-L" (without the quotes). You will then receive a confirmation.

For more information on fragile X syndrome, visit these helpful sites:

 

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