Wednesday, December 16, 2009

IEP progress

Jacob had his IEP meeting yesterday. What was a fiercely contested battle has slowed to a simmer. Now that everyone has gotten to know Jacob well there is far more agreement over what he needs. Finally even the autism consultant agrees he hates discrete trials and that Jacob is not "typically" autistic. The school finally agrees that while Jacob needs a lot of time his services do not require a large financial investment and have agreed to invest the small amounts of money necessary to have him remain in his current program. Jacob has gone from being viewed as a tremendous challenge educationally and legally to being seen as the impetus for a positive change. His arrival in this district has helped the school design its first comprehensive program for children with special needs. We still have a long way to go but we're headed in the right direction :)

Sunday, December 13, 2009

Dos Equis

We now have two out of three children with full mutations. Oddly the youngest was diagnosed first three years ago and in revisiting the Fragile X Clinic at Boston Children's we decided to have everyone tested. While its hard to hear the diagnosis I can't say that I am shocked. It answers a lot of questions about this particular child. (Which I have not named here because we are waiting to reveal the results to the children until after the holiday with the genetics counselor because she is so wonderfully sensitive to our children and how they feel about having Fragile X and having a sibling with Fragile X.

My mother who passed the gene to me is taking this quite hard. She described herself as a worm that infected her family. I think that is incredibly harsh, partly because if that is true of her than it would be true of me. She feels that if she could have known she could have prevented passing the gene along. I say you can't see this in hind sight. I went to genetic counseling before having my third child because one of the other children had learning and behavioral issues. I had all the genetic tests. All the ones they do if you DON'T have a mentally handicapped relative. Of course Fragile X was not among these. And in the end, the child with the learning and behavioral my only child who does not carry the gene at all. That child has 26 repeats. I have 92. The other siblings are fully methylated above 200 repeats. The is the child I was safest with, did all the right tests, ate all the right foods, and read all the right books for is the most affected. It's not something anyone goes looking for. Maybe it should be but honestly on my worst day, with everyone's special quirks driving me up the wall, my own included, I wouldn't wish it away. I would wish for life to be easier for my children, and would wish people to view them as the incredible, wonderful and amazing people they are without prejudice, but otherwise, I love every little oddness, every little uniqueness, everything that sets them apart just the way they are. Mothers of Fragile X kids see their children in a way that no one else sees them, not grandparents, not cousins, not friends. Its like Xray vision. We see through the preservative habits, the idiosyncratic speech, the temper tantrums to see angels. There is a light, a pure joy that surrounds these children. I pray for the day that medication is developed that helps my children succeed academically and navigate the world more easily but I also pray that it does not diminish all that is beautiful and special about them. My mother sees me tied closely to home and routine. This Friday she dragged me out to the movies with the kids, three out of four of them, the youngest home asleep. She says I need to get out. She doesnt understand that after a day in "real world' working in an inner city clinic that coming home to watching the same video for the 1oooth time this week, baking our gluten-free bread, giggling and laughing at the same joke that was as funny to one of the kids at 6am morning as it is at 6pm is as much my sanctuary as it is my prison.