Fragile X Syndrome: One Mother’s Story
July 22nd is Fragile X Awareness Day. Read one mother's story and find out more about fragile X syndrome.Fragile X syndrome is the most common known cause of intellectual disability that can be inherited. People with fragile X syndrome can live full lives.
"We had a miracle last week. My youngest child Joslin grabbed my hand and pulled me to the refrigerator. My husband and I still had to guess what she wanted, but it’s a big deal that she’s pulling us to the refrigerator. Kids with fragile X just can’t communicate what they want because of speech delays or hyperactivity. We have to rejoice in the little things.
"All three of our children have fragile X syndrome with the full mutation, and they all have Attention-Deficit/Hyperactivity Disorder. There’s occupational therapy, physical therapy, and speech therapy at school.
"Brighton, our oldest, has grown out of a lot of his needs, but he still has some speech therapy. Avery, our middle child, has occupational therapy just for her sensory needs. Sometimes we take her down to a hammock we have hanging in our basement and do a lot of swinging, or we have a soft baby brush and we brush her arms and her legs if things are really bad. She needs that sensory input. For her, falling apart can be anything from rocking and bouncing and humming to total mayhem where she hurls herself into the wall or furniture, and throws things. Joslin, our youngest, has her therapies at an early intervention center.
"I wish we had the resources to have specialists come to our house but we don’t. The burden falls on us as parents to fill those gaps, so that’s added pressure. We tell our family what we’re working on with the kids and they’ll help Brighton with his speech, or if Avery starts falling apart they’ll give her a good hug for the sensory input. Having that support system has made a world of difference for us.
"Fragile X is so hard because it’s genetic. We had no idea it was in our family. When Brighton was diagnosed at five, we had Avery tested. She was nine months old. Marc and I didn’t understand the genetic piece and when I learned I was the carrier, I felt like I wanted to die. My dad is a carrier and so are my sisters. So far none of them have children with fragile X, but there’s always that chance. Since I have daughters, I also worry if they’ll have the ovarian insufficiency that can come with fragile X, and if they’ll be able to have children of their own.
"At the beginning when Brighton was diagnosed, I wish fragile X hadn’t been such a foreign concept. I felt so alone when I got the diagnosis. I also wish that in my time of mourning I would have been able to look into the future and see how happy my kids are and how happy our lives are. There are tough times, there really are. But there’s so much joy."
Signs that a child might have fragile X syndrome include:
Fragile X syndrome is diagnosed by a blood test to analyze a person's FMR1 gene. A physician or genetic counselor must order the test. A diagnosis of fragile X syndrome can be beneficial to the family because it can provide an explanation for a child's intellectual disabilities and behavioral problems. This allows the family and other caregivers to learn more about the disorder and manage care so that the child can reach his or her full potential.
There is no cure for fragile X syndrome. However, treatment services can help people learn important skills. Services can include therapy to learn to talk, walk, and interact with others. In addition, medicine can be used to help control some issues, such as behavior problems. To develop the best treatment plan, people with fragile X syndrome, parents, and health care providers should work closely with one another, and with everyone involved in treatment and support—which may include teachers, childcare providers, coaches, therapists, and other family members. For information about diagnosis, treatments, educational strategies, therapies, and intervention contact the National Fragile X Foundation
or the FRAXA Research Foundation.
Fragile X syndrome affects both males and females. However, females often have milder symptoms than males. The exact number of people who have fragile X syndrome is unknown, but it has been estimated that about 1 in 5,000 males are born with the condition. 1
CDC’s work improves the quality of life and encourages full participation at every age for those with fragile X syndrome. We conduct essential research and create unique tools that affect the lives of individuals and families, and assist clinicians and researchers.
Rachael’s Story
"We had a miracle last week. My youngest child Joslin grabbed my hand and pulled me to the refrigerator. My husband and I still had to guess what she wanted, but it’s a big deal that she’s pulling us to the refrigerator. Kids with fragile X just can’t communicate what they want because of speech delays or hyperactivity. We have to rejoice in the little things.
"All three of our children have fragile X syndrome with the full mutation, and they all have Attention-Deficit/Hyperactivity Disorder. There’s occupational therapy, physical therapy, and speech therapy at school.
"Brighton, our oldest, has grown out of a lot of his needs, but he still has some speech therapy. Avery, our middle child, has occupational therapy just for her sensory needs. Sometimes we take her down to a hammock we have hanging in our basement and do a lot of swinging, or we have a soft baby brush and we brush her arms and her legs if things are really bad. She needs that sensory input. For her, falling apart can be anything from rocking and bouncing and humming to total mayhem where she hurls herself into the wall or furniture, and throws things. Joslin, our youngest, has her therapies at an early intervention center."I wish we had the resources to have specialists come to our house but we don’t. The burden falls on us as parents to fill those gaps, so that’s added pressure. We tell our family what we’re working on with the kids and they’ll help Brighton with his speech, or if Avery starts falling apart they’ll give her a good hug for the sensory input. Having that support system has made a world of difference for us.
"Fragile X is so hard because it’s genetic. We had no idea it was in our family. When Brighton was diagnosed at five, we had Avery tested. She was nine months old. Marc and I didn’t understand the genetic piece and when I learned I was the carrier, I felt like I wanted to die. My dad is a carrier and so are my sisters. So far none of them have children with fragile X, but there’s always that chance. Since I have daughters, I also worry if they’ll have the ovarian insufficiency that can come with fragile X, and if they’ll be able to have children of their own.
"At the beginning when Brighton was diagnosed, I wish fragile X hadn’t been such a foreign concept. I felt so alone when I got the diagnosis. I also wish that in my time of mourning I would have been able to look into the future and see how happy my kids are and how happy our lives are. There are tough times, there really are. But there’s so much joy."
CDC would like to thank Rachael for sharing her personal story.
Signs of Fragile X Syndrome
Signs that a child might have fragile X syndrome include:
- Developmental delays (not sitting, walking, or talking as early as other developing children);
- Learning disabilities (poor achievement in school); and
- Social and behavioral problems (such as poor eye contact, increased anxiety, decreased attention, hand flapping, impulsive behaviors, and hyperactivity).
Diagnosis
Fragile X syndrome is diagnosed by a blood test to analyze a person's FMR1 gene. A physician or genetic counselor must order the test. A diagnosis of fragile X syndrome can be beneficial to the family because it can provide an explanation for a child's intellectual disabilities and behavioral problems. This allows the family and other caregivers to learn more about the disorder and manage care so that the child can reach his or her full potential.
Treatments
There is no cure for fragile X syndrome. However, treatment services can help people learn important skills. Services can include therapy to learn to talk, walk, and interact with others. In addition, medicine can be used to help control some issues, such as behavior problems. To develop the best treatment plan, people with fragile X syndrome, parents, and health care providers should work closely with one another, and with everyone involved in treatment and support—which may include teachers, childcare providers, coaches, therapists, and other family members. For information about diagnosis, treatments, educational strategies, therapies, and intervention contact the National Fragile X Foundation
or the FRAXA Research Foundation.How Many People Have Fragile X Syndrome?
Fragile X syndrome affects both males and females. However, females often have milder symptoms than males. The exact number of people who have fragile X syndrome is unknown, but it has been estimated that about 1 in 5,000 males are born with the condition. 1
CDC’s work improves the quality of life and encourages full participation at every age for those with fragile X syndrome. We conduct essential research and create unique tools that affect the lives of individuals and families, and assist clinicians and researchers.
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