Tuesday, March 3, 2009
Genetic Appointment
We had Ryan's genetic appointment today and it went very well. Ryan has improved greatly over the last few months and even weeks. A family history was done and then she did a physical exam on Ryan. She asked us "why we were there" We had been told by the neurologist and rehab doctors that we should really get genetic testing done. The geneticist said that Ryan has "out grown" his hypotonia- although feels that he probably did not have this to begin with. Ryan is flexible and the geneticist feels that Ryan actually has some mild connective tissue problem and that is what we are seeing with his walking. She told us that she feels "Ryan had a bad illness" and suffered side effects from that. The physical therapy has helped Ryan "rehab" from it and this is why we have seen such an improvement in him. I have always questioned if something happened after Ryan's 3rd seizure. So we did not do any genetic testing- lab work on Ryan. He will need an ECHO- ultrasound of his heart in the future (will be planning on Aug) to make sure his connective tissue problem has not effected his heart. If it is normal, we will not being having any more appointments. If it is even on the higher side of normal, we will go back to the geneticist to look more at his connective tissue problem. We are very happy with this appointment. Ryan is neurologically on track and a smart kid. She told us that he is a "normal" 3 year old and to start treating him that way. We have found that the doctors and us have been over analyzing everything and anything about Ryan. SO, we are moving on- the past is the past! I am thinking about cancelling his OT eval, wondering if we have noticed sensory things that really aren't a problem as much as we have paid attention too. He will soon get his 6 month eval from PT. I am thinking he will have less or no PT after that. It is a relief for us.
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