Interview with Deborah Heiman

Today we have for you an interview with ms. Deborah Heiman. She has two sons with Fragile X, and we asked her a few questions. Her responses are below.

Q: What is life like taking care of someone with Fragile X Syndrome?

A: In my family, there are 3 adults and 5 children affected by Fragile X Syndrome.  Similar to Autism, there is a spectrum related to Fragile X so individuals can be severely affected or have mild symptoms.    I am 1 of 4 children.  Three of us are carriers of the disorder (my sister, brother and me).  My sister has two children that have the full mutation.  Her boy is more affected than her girl (many times that is the case because girls have XX chromosome and therefore have the second X to counteract against the bad X).  My brother’s daughter is a carrier.  When the gene transfers from father to daughter it does not “expand” and so she is a carrier like her father.  I have two boys that both have the full mutation.  

My boys and my sister’s son will need full time care for the rest of their lives.  They have significant cognitive delay and have varied sensory issues (like sensitivity to light, food textures, clothing, smells, etc)

My sister’s daughter (full mutation) and my brother’sdaughter(carrier) will live “normal” lives but have a 50-50 chance of passing on the bad gene to their children.  They may have to consider alternative options like chromosomal sorting and invitro fertilization.

As carriers, my brother, sister and myself could be affected with FXTAX…….you can read about that on the web.

Q: What kinds of treatments have you used in helping someone with Fragile X?

A: Research is working on many new drugs that look promising for treating Fragile X.  It is very promising that researchers may find a cure since only one gene is affected, unlike other disorders like Down Syndrome that involves many genes and is more complicated.  Helping Fragile X will also help other disorders like RET Syndrome, Alzheimer’s, and Huntington’s Disease.  For now, we rely on speech therapy, occupational therapy and physical therapy.

Q: When did you find out that they had Fragile X?

A: My boys were diagnosed with Fragile X when they were 3 and 1.  We knew they were “behind” other kids but did not know it was a genetic issue.  It was a shock.

Q: What organizations have helped you expand your knowledge about this disorder and/ or helped you when you first became aware of the disorder?

A: Two sites you should check out are FRAXA.org and fragilex.org.  One is the research organization that I do a fundraiser for and the other is the National Fragile X Foundation which is an education based organization.  

Q: Are there any national fundraisers for Fragile X Syndrome?

A: There are many fundraisers happening around the world all the time.  On April 12 I will be hosting a fundraiser with 6 other families in the Columbus area.  It will be held at St. Charles (Walter Commons) in downtown Columbus from 7-11.  We do this fundraiser every two years.  Our last event raised $70,000!  You are welcome to come!  You can see it on the fraxa.org website.

Foundations and Further Research

Like with any other disease or disorder, scientists are always trying to find more information about fragile X syndrome. For more information about research or to donate to the cause, please visit http://www.fragilex.org

Fragile X Syndrome History And Genetics

Fragile X Syndrome was discovered in 1943 by a man named James Purdon Martin (pictured) and a woman named Julia Bell. This is the reason  the disorder is often called Martin-Bell syndrome as well. The disorder was discovered when Martin and Bell investigated and collected data from a family with multiple men in their line who where mentally handicapped. For a more in-depth history of the disorders discovery, look here.

On to genetics, this disorder can be passed from a mother to her son or daughter, but a father can only pass the trait to his daughter. This disorder is caused by a mutation on the X chromosome. And since males have an X and a Y chromosome, a male can only either have the disorder or not have it. However, since females have two X chromosomes, a female can either have the disorder, not have it, or be a carrier of the disease but not have it be expressed.

Physical Appearances and Daily Life

Any person with this genetic disorder will have altered physical appearances. Usually people with this disorder will not have any physical defects but if they do they can have an elongated face, prominent ears, low muscle tone, loose joints, high palate, enlarged testicles (in males after the pubescent stage), and heart murmurs. All of these are possible in people who have the genetic disorder.

This is a child with the disorder and you can clearly see the elongated face and the enlarged ears.

Daily life with Fragile X Syndrome is tough. From early development a child can experience intellectual disabilities, learning disabilities, development delays, speech delays and difficulties, difficulty with coordination, and difficulty with motor skills. A child must be closely watched and helped with extra activities to reverse these effects. Any person with the disorder can be sustainable to Anxiety, shyness, Attention Deficit Hyperactivity Disorder (ADHD), Autistic like behaviors, difficulty with eye contact, defensiveness, repetitive speech, and aggression. A child with Fragile X Syndrome, even though with all these disabilities, are still a gift of nature and are to be loved just as much as the other and to helped to achieve their full potential. 

Causes of Fragile X Syndrome

Fragile X Syndrome is a genetic disorder on the FMR - 1 gene. It produces none or too little of the protein. This is caused when the gene CGG repeats over 200 times. Most people have 6 - 200 repeats and this causes the protein to be made. When the gene is repeated more than 200 times the gene shuts of and does not make protein. To get a better understanding watch this video from Centers from Disease Control and Prevention (CDC) https://www.youtube.com/watch?v=auIwEV1SiBQ

Welcome to Fragile X Syndrome Source

Hi, we are two high school students trying to help you learn about Fragile X Syndrome. Here's some background information on Fragile X Syndrome https://www.genome.gov/19518828. Fragile X Syndrome is a deformity on the X Chromosome where the tips of it are "dangling by a thread"

Thank you for coming to our blog to learn about Fragile X Syndrome and come back to find reliable information about this disorder.