Tuesday, August 2, 2011


around 2 weeks we learned that jared is a carrier for cystic fibrosis. after a few minor panic attacks in the dr's office and a few more frantic calls to the sperm bank we came to the realization that he really could only be an asymptomatic carrier because there is no way the donor was a carrier. unfortunately this meant that the genetic mutation had to have come from angela's family which was not something they took too well. it was a bitter pill to swallow but simply put it really doesn't effect jared until he decides to procreate or get some girl knocked up...hopefully the former will precede the latter.

at birth we opted in to a genetic based research study looking into the benefits of including a screening for fragile X in the newborn screen panel. today we received the call that caleb's numbers of the CGG repeat in the FMR1 gene (fragile x mental retardation) fall within "premutation" range putting him at risk for developing Fragile X Tremor/Ataxia Syndrome which is basically adult onset (50+ years old) fragile x and once onset begins life expectancy drops to 5-25 years post diagnosis. wow...talk about hard to stomach. as a behavior analyst working with children with autism i feel hit especially hard with this because this is my profession and i see both the progress and the deficits people with developmental disabilities display. after much research i did locate one article from genome.gov that says"
"Males and females who have a fragile X premutation have normal intellect and appearance. A few individuals with a premutation have subtle intellectual or behavioral symptoms, such as learning difficulties or social anxiety. The difficulties are usually not socially debilitating, and these individuals may still marry and have children."
I think this makes us feel slightly better. angela found something that talks about the higher the number of CGG repeats the more likely he is to have problems down the road. the range is from 55-200 for carriers with a single mutation and his number was 77 which puts him at the lower end of the bracket. this means he could be in the 60% of people who have premutation but no symptoms ever. it will however likely affect his potential children.

this is where i struggle. we now have two children who will have to speak with their respective partners when the time comes about genetic issues that might hinder procreation. we never wanted our children to have any reason to resent us (other than the fact that when they're teens they'll hate our guts regardless)
i fear how they will react to this once they are older
angela now feels guilty as she has now passed genetic "mutations" on to both children.
had we been a straight couple we never would have known this and it is simply something we will address as barriers or hurdles present themselves.
i pray that caleb is fine and that he simply bears the label "asymptomatic carrier"
i sincerely hope that neither caleb nor jared hold us responsible for their genetic "abnormalities"
these things do not make us love them any less - quite the contrary - they are constant reminders that we are so very, very lucky to have two healthy boys.
and these boys are so very lucky to have been born into an incredibly loving home with two mamas who know how to help them in the event that their development strays from typical trajectories.

caleb and jared -
i want you both to know that we are sorry that this is the hand we were all dealt. but it does not change how wanted you are and how loved you are and doesn't mean that we would have done things differently.
you both are the center of my world and what keeps me going throughout my day. i wouldn't change that for the world.
i love you with all my heart and look forward to many years of learning and growing with you.
love always
- mama

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