Last Wednesday was National Fragile X Awareness Day. How can you help Fragile X Awareness?
Read these stories gathered by National Fragile X Foundation & Help spread awareness and understanding for Fragile X by making a donation today.
By Keri
Girius (age 4) and Crosby (age 2.5) were diagnosed in May 2014, during which time I learned that I was the premutation carrier of Fragile X. Both boys have smiles that light up any room. Early intervention was started when Girius was 2 months old because he had torticollis. They have been in EI since the very beginning and although they are still non-verbal, they each do a little bit of sign language to communicate some of their basic needs and Crosby is saying some clear and concise words, He may not use them consistently, but he will use them appropriately.
They love pools, the ocean, sprinklers, water tables, play-doh, coloring, listening to music, dancing, Disney Junior, iPads, puzzles, being tickled, chased, run, climb, high five, balls, shapes, colors, anything soft and fleecy, and The Ellen DeGeneres Show. They both thrive to do tasks independently and are eager to learn new things, when their anxiety isn’t debilitating their ability to learn. Girius is learning to potty train (our 3rd attempt) and has been doing excellent in his typical daycare setting and attends a specialized classroom setting each morning. Girius with some assistance is dressing himself. Crosby has finally overcome separation anxiety and actively participates with his peers and loves to attend school!! He runs to his classroom and says, while waiving to me, “bye-bye”. We utilize PECS (pictures), visual and verbal cues and prompts, as well as social stories. With advance notice of what is coming next, our boys will transition smooth. They are healthy, handsome and oh so loved!!!
We have great teams who provide services to them (PT, OT, Speech, Behavior, Special Instructor, PCA) which as their parents, we work diligently to make sure we are all on the same page. This is absolute key to make progress in Girius and Crosby’s education careers. We find hope in hearing other family’s stories and experiences. No journey is easy – everyone has something happen in his or her life, which is unforeseen. We, as a family, have learned to power through and move on with grace. We are stronger than we ever knew we could be and we keep getting stronger by the day. Bringing awareness to FX will only open more doors in finding a treatment to supplement the lack of protein our children are simply born without.
By Brittnee
Tristan is my son; he just turned eight. When he was about nine months old, we noticed that he wasn’t doing what other kids his age were doing. Being in denial we decided to wait it out. At 18 months when he still wasn’t walking, we sought EI and therapy, still without a diagnosis. At 3 when he was entering school, someone mentioned that he looked as though he had Fragile X. I brushed it off, still in denial about the severity of his disability. Being a nurse I should have known better.
He was in special education classes and therapy, without a diagnosis, until a patient I was taking care of explained their situation with a special needs child and the importance of diagnosis and long term planning. I broke down. After almost seven years I knew that I had to stop avoiding the inevitable.
Off to the doctors and the developmental pediatrician I went. After a diagnosis of autism, ADHD, cognitive delay, an EEG MRI and ten vials of blood, the genetic counselor explained that Tristan was indeed affected by Fragile X with 500-700 mutations.
A weight was lifted; after all these years we had a reason. Our happy, fidgety sweet, sweet boy was destined to be who he is. Oh the joy he brings us – the laughs, the amazement when he has something new to say! He is the happiest kid and everyone who meets him is drawn to him.
He is 8 now, very verbal, bright and working hard with his team to progress. Lots of therapy and lots of doctor’s appointments are our life, but we wouldn’t change it for the world! We’re looking to the future now- long term plans for him. It’s hard, but we feel we are lucky to be able to love such an incredible child. We have already been blessed with a little sister for Mr. Tristan and she was developing ahead of schedule, so we decided to let her decide when testing was right for her.
By Jennifer
He’s my uncle and he was born with Fragile X. No one knew what was wrong with Uncle Christopher. He was placed for adoption at 18 months with his brother, my Uncle Gerard, but it was difficult for the agency to find parents. Then it happened, my grandparents came along and fell in love with Uncle Chris. Uncle Gerard wasn’t born yet and their biological mom wanted them to be adopted together. Grandpa and Grandma adopted my uncles in 2001. It took another couple of years before the genetic testing revealed fragile X syndrome. Uncle Christopher has overcome many obstacles with the help and love of family, friends, committed teachers and therapists. He loves being my uncle! And my family is blessed to have Uncle Christopher in our lives.
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