Monday, April 23, 2012

Moms of children with autism, have you considered testing for fragile X?

I read a few articles today about fragile X.  Doctors suggested that Jacob get tested for fragile X when he was first diagnosed, but the genetic testing was around $5000 and we just couldn't afford it.  Also the genetic diseases they were testing for are not curable so we decided to wait.  However, after reading more about fragile X from the Autism Speaks site and some other sites today I have decided that I really need to get Jacob tested for it.  Testing for fragile X alone is much cheaper than doing them all at once.  If your child has been diagnosed you should consider testing for it.  Although there is no cure, the treatment is totally different because like down syndrome it affects the child forever.  This is the most common genetic disease that causes autism or autism like symptoms.  I feel like Jacob's delays and macrocephaly really resemble what this article is describing, however, his symptoms really fit autism as well. I would like to know either way because the treatment and goals are different.  My goal is to find a way to get him tested within the next two months.  Please be in prayer for us that we can find a way to get the blood work done.  Thank you in advance for your prayers.  Here is some info on fragile X

Should a child with intellectual disability be tested for fragile X?
Fragile X testing should be considered for any child who has been diagnosed with intellectual disability, developmental delay or autism. This is especially true if there is a family history of fragile X or some other form of intellectual disability from an unknown cause, or if the child has any physical features that would suggest fragile X syndrome.
What is my risk of being a fragile X carrier?
About 1 in 200 women is a fragile X carrier. Your chances of being a fragile X carrier may be much higher depending on your family history. If you have a family history of fragile X syndrome or of intellectual disability from an unknown cause, you are more likely to be a fragile X carrier.
What is fragile X syndrome?
Fragile X syndrome is the most common cause of inherited intellectual disability (historically called mental retardation). Infants and toddlers with fragile X are likely to have delayed development of body movement (called motor skills) and delayed speech abilities. For instance, boys with fragile X walk and say their first words when they are an average age of about 20 months old; unaffected boys walk and talk at an average age of about 12 – 13 months. A child with fragile X may not learn words as quickly as other children of the same age do. The child may also have difficulty understanding instructions. Boys with fragile X have more severe problems compared to girls with the disease.
Children with fragile X syndrome typically have more difficulty with behaviors, such as temper tantrums and hyperactivity. Many children with fragile X show autism-like symptoms, such as poor eye contact with others.
Although children with fragile X usually do not have unusual physical characteristics as infants, such features might appear as they grow older. A school-aged child with fragile X might have a long face with a prominent jaw, prominent forehead or relatively large ears.
Gender plays a role in the symptoms and severity of fragile X. Boys with the syndrome have moderate or severe intellectual disability, while girls with fragile X have milder intellectual disability. Boys are also more likely to have the unusual facial features mentioned above.

I know that its more likely to just be autism, but I am still in search of answers.  To be honest his head shape does resemble some of the more subtle pictures of kids with fragile X and it does become more significant during school age years.  I will obviously post when we get the blood work and the results as soon as we have them.  In the meantime, I am in prayer for the moms out there who have emailed me about just receiving the autism diagnosis.  I know how hard this time is for you.  Its confusing and there is so much information out there, some even conflicting with each other.  Just take it one day at a time and stay in constant prayer.  God can get you through this.  He chose you to be this child's mom for a great reason.  Always remember that you are not alone.  Your child is so blessed to have a mom that cares so much about them. 

“Rejoice in the Lord always; again I will say, Rejoice. Let your reasonableness be known to everyone. The Lord is at hand; do not be anxious about anything, but in everything by prayer and supplication with thanksgiving let your requests be made known to God. And the peace of God, which surpasses all understanding, will guard your hearts and your minds in Christ Jesus.
Finally, brothers, whatever is true, whatever is honorable, whatever is just, whatever is pure, whatever is lovely, whatever is commendable, if there is any excellence, if there is anything worthy of praise, think about these things. What you have learned and received and heard and seen in me – practice these things, and the God of peace will be with you.”

Philippians 4: 4-9

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