Let's see...we had a good appointment with J on Monday with a new developmental ped who took our insurance. Her name was Dr. Beth Parrish at St. Chris Hospital in Abington. J scored at a 4 1/2 yr old cognitively (yipee) and about a 3 yr old language wise. So, we definetely have to increase his speech therapy - which has been on my mind to do recently anyway. I made an appt with a speech therapist who was recommended to me - he will have an assessment done in December. I asked Dr. Parrish if she thought J would be MR (mentally retarded) and she said she did not think so at this point. They can't test for this until he can get an IQ test. JL and I were happy with her and with the overall appt.
Then I got some bloodwork back and J is positive for the MTHFR gene mutation. This made me wicked sad. I don't completely understand this but I had the test done b/c I have been reading on message boards that if you have this and go under anesthesia then he could regress b/c of the nitrite oxide. JL read that 60% of the population have this mutation. It still makes me sad that JL and I gave this to J. I don't believe that the MTHFR gene mutation has anything to really do with his autism but it means he is inoxidative stress. Dr. Miller (J's ped) said that we are already doing everything to help him with the oxidative stress: Mb12 shots and glutathione. Also, having this mutation increases his risk for vascular disease later in life.
I do think we should do some more genetic testing so see what else is going on.
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