Tuesday, July 9, 2013

Is It Autism, or is it Fragile X Syndrome?

http://www.autismtoday.com/articles/Is%20It%20Autism.asp

 
How many children have been diagnosed as Autistic without having the simple blood test to determine whether they have Fragile X Syndrome?

Is It Autism, or is it Fragile X Syndrome?If that is your child, run don't walk to your Doctor's office and request the blood test. Yes, there is a simple test to identify the difference. The correlation is remarkable and overlaps in many cases. For between 2% and 6% of all children diagnosed with autism the cause is the Fragile X gene mutation.1 Even more remarkable is the fact that between 15% and 30% of boys with Fragile X meet the diagnostic criteria for autism.2 Why is there so little public discourse concerning Fragile X when there is a diagnosis of autism? If you don't know much about Fragile X syndrome you are not alone. It is a relatively new area of study.
 
There is an entire spectrum of abilities for Fragile X Syndrome children and adults ranging from the learning-disabled to the very low functioning. Fragile X Syndrome is the second most common cause of retardation, but the range of functioning is broad with many strengths and weaknesses. Fragile X Syndrome is an X-linked hereditary disease affecting cognitive, physical, and sensory development. It involves genetic repeats found near the tip of the X chromosome.
 
There are many overlapping characteristics between Autistic and Fragile X Syndrome children. These include hand flapping, poor eye contact, repetitive, self-stimulating motor behaviors, as well as difficulty with social interactions, and poor play skills. The profile of Fragile X children with autistic features is visually indistinguishable from the children with autism and those without Fragile X Syndrome.
 
For young children these behaviors are easily identified, and cry out for appropriate educational settings and therapy for both autistic and Fragile X syndrome children. Multiple sources of information are critical, and that would include both medical and observational rating scales. It is important for children with Fragile X Syndrome to seek genetic counseling and access to treatments that have proven to be effective for these children. Some of the success stories involve the use of schedules, calming techniques, emphasis on functional language, visual cueing, and focusing on concrete experience based learning.

Sunday, July 7, 2013

Dreaming big...

I saw a post just now that really hit home for me.  I've often wondered, how much happier would we be as a family if we moved somewhere costal where we lived off of the land.  We want our boys to be well adjusted.  I'm not sure they will ever "get" the concepts of our educational system.  They need basic education but more focus on life skills than education.  With my husband driving 50 miles each way to work and gone 12 hours a day, it doesn't feel "right".  I've gotten to where I don't care so much about what we drive, the house we live in, or any other material things in life.  I'm envious of a different lifestyle.  I don't know what that lifestyle is or how we would get there.  But I will keep praying to God to lead us down a path of an easier option.  I don't want to give up entirely on educating my children. I just don't want to live so close to one of the most expensive areas in the US that there is to live.  My husband grew up here.  I love Loudoun County.  It would be a dream to have a few acres and build out there.  But with gas, his commute, and everything being so expensive, am I crazy to dream of another option?  Winters are difficult (unless there is snow) because we don't get outside as much. 

My boys need to be active.  They need to be busy.  They are happiest during days like yesterday when Nana and Papi came to see us and went out on the boat with us.  We had a short day on the water but the joy of watching those boys do something they really liked was priceless.  Jeremy hurt his back getting the heavy battery into the boat and still scrubbed it down so that it would be clean for all of us.  He really enjoyed the day.  So did I.  And to have a mother-in-law who comes out to see us and brings dinner and plays with the boys is priceless.  And in two days we get to have that with Aunt Barb!  (Who spoils us too!)  Love you Nana, Papi, Johm Mimi, Casey, Aunt Barb, Aunt Roberta, Ray, Emily, Edward, Crystal, and the whole Miller family.  We are blessed to have such a wonderful family!