FRAGILE X: 'Our ray of sunshine'

By MARY DeBERNARDIS

IT WAS pure luck that I happened to sit next to a gentleman on the DC Metro train who suggested I contact a geneticist at Bethesda Naval Hospital after listening to me vent about our daughter's challenges in life. A few months later, we had our answer! After 12 long years genetic tests confirmed that our daughter, Amy, had inherited the full mutation of fragile x syndrome from me, her mom, who has the pre-mutation. My oldest brother and his two daughters also tested positive for the premutation.
    What is fragile x syndrome? Simply stated, fragile X is the leading genetic cause of mental impairment in the world, including autism. It takes only one parent to pass this genetic condition to their children. Fathers will pass the pre-mutation to all of their daughters, but none of their sons, while mothers have a 50% chance with each pregnancy of passing either the pre- or full mutation to either their sons or daughters. Luckily for us, Amy's younger sister, Genevieve, did not inherit fragile x syndrome, nor is she even a carrier.
    At birth, Amy's only noticeable abnormalities were crossing of her eyes (strabismus), difficulty nursing due to oral motor sensitivities and larger-than-average head circumference. Her speech and language development was normal up tothe age of about two.. But at age four-and-a-half, her expressive language still tested at the two-and-a-half year age level. It wasas if she were "locked in a closet" for two years.
    It was at that time that she was identified as autistic and placed in a pre-school for the emotionally disturbed. When she started imitating the inappropriate behaviours of her classmates, her parents removed her and placed her in the local university speech/hearing clinic where she received both individual and group therapy for her delayed, dyspraxic and perseverative speech. Whether this occurred because of her constant ear infections with fluid in the middle ear or because of her fragile x will never be known, simply because most doctors /therapists/ educators were not aware of its existence.
    Other behaviours included arm flapping, toe walking, repetitive rocking, sensitivity to touch and lack of eye contact. She was easily distracted and had difficulty with socialisation. Nevertheless, despite her shyness and anxiety, she exuded this beautiful smile, especially when swinging on her favourite swing or dancing to the Muppets music.
    Over the course of my husband's Marine Corps career, Amy attended 10 schools and graduated with her high school diploma at the age of 21. That, in itself, taught us that the right educational programme could make all the difference in the world. Her best year ever was when a Master's level special -education teacher, with experience working with children with autism, became her third-grade regular education teacher. Amy developed better socialisation skills from her classmates while enjoying the benefits of what her teacher had to offer. For the first time in her life, she had real friends. For the first time in her life, she had real friends because she was learning social skills in the classroom!
    She has been living independently for seven years in a duplex we remodelled, has learned to drive her own car, play piano, work in the community, attend college and taught herself sign language so she could communicate with a young boy who was hearing-impaired. Because she has excellent imitative skills, acting and her sign language came easy to her. Her compassion for others has led her to advocate for those with special needs, including becoming a global messenger for Montana special olympics. Our local newspaper often prints her letters to the editor helping our community better understand people in her position. She is often quoted as saying: "Focus on the positive and throw the negative out the door." She is definitely our sunshine!
    Currently, Dr Randi Hagerman, medical director of the M.I.N.D. Institute in Sacramento, California, is making an effort to increase awareness of not only the mental retardation /autism link to fragile x, but also links to anxiety and a variety of psychological, behavioural and learning disorders.
    More recently, two medical conditions - Fragile X Tremor/Ataxia Syndrome (FXTAS) and Primary Ovarian Insufficiency (POF) - were discovered in pre-mutation carriers giving geneticists another portal into understanding how the fragile x gene works. FXTAS, which can show up in 30 per cent of male carriers by the age of 50, is characterised by an early hand tremor, difficulty with walking/balance, short term memory and eventual loss of independence.
    POF may be the reason why it took my husband and me several years to give birth to our second child, Genevieve, when I was 36 years old. Twenty per cent of female premutation carriers are estimated to develop POF under the ageof 40.
    Presently, our "miracle daughter," Genevieve, is enrolled at the University of Nevada's Behaviour Analysis graduate programme working towards her PhD. She found her mission in life after years of real life experience growing up with her older sister, Amy. Her goal is to conduct additional research in behavioural analysis which would be a great benefit to the population affected by autism and fragile X syndrome.
    More exciting recent research has pointed to the role played by the PAK gene (p2-activated kinase), which when inhibited, rescues symptoms of fragile x syndrome in mice. This may lead to the development of an FXS and autism treatment.
    For more information of this and other exciting research studies, visit the National Fragile X Foundation's website (www.fragilex.org) and click on fragile x/autism
fragile x syndrome by funding grants totalling over $7,500,000.
    Fragile x may currently affect over a million men, women, and children in the U.S. alone. Many more are undiagnosed or misdiagnosed.     The U.S. Surgeon General's office is encouraging all American families to become more aware of their family history which may reveal even more cases of fragile x syndrome as well as other health conditions.
    Feel free to share this tool (https://familyhistory.hhs.gov/) with members of your family and ultimately with your family doctor just in case you are not as lucky as I was the day I met that gentlemen on the D.C. metro train.

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FRAGILE X: 'Our ray of sunshine'

Looking Up, 16-page English PDF Edition, Back Issues and Current Issue

HOW TO CONTACT US

Search our autism pages

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