Tuesday, July 20, 2010

Autism Screening

July 19, 2010

I have submitted my essay to two more newsletters. We had our Autism screening and are awaiting the results and of, further genetic testing for Fragile X and other genetic differences. Above is a picture of my son's life in a box. This is what a service life looks like. 6 weeks though 14 years. Every IEP, service plan, evaluation, or assessment he has ever had.The developmental nurse practitioner looked through then all and researched down syndrome and autism.

It will be very interesting to see how wonderfully made my son is. I'm totally going to ask for a copy of the karyotype and frame it or get my daughter to create an art piece from it. I may be a nerd but I've always thought those pictures of chromosomes were pretty.

None of this will change anything that I do with my son but it might change his medical care and it would definitely give future caregivers a better picture of what his needs are. It is especially helpful since he communicates differently.

My daughter may benefit as she gets older too. She might be a carrier of some of the genetic differences (translocation or fragile X) but not affected by them. Not that she will care until she is ready for children.

In the mean time.... I pray for patience... and celebrate my son's 14th Birthday. His Birthday is next Monday and we will be busy doing fun things the weekend before. A cookout and maybe the aquarium. We will celebrate my daughter's birthday late since she is on vacation. It's the first time my twins have been separated on their birthday.

NOTE: imported from My Domestic Experiments. 

UPDATE: Hard to believe it took 14years to get the autism diagnosis.  Usually it takes 3years.  Full Trisomy 21 and no more than the usual number of genetic mutations (we all have them).

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