September 29, 2011
2 days after my birthday, 1 day after my pregnancy test.
It’s about 2PM and I’m getting Bear up from his nap and we’re playing. Around 3 I check my phone to make sure Hubs hasn’t called to say he’s leaving. I have a voicemail and a missed call from an area code where all of Bear’s specialists are.
I listen to my message and it’s the geneticist. She was apologizing for not getting back to us sooner and was just all about rambling. I was getting really annoyed. We had called her about 2 weeks prior because Bear keeps getting fevers about every 2 weeks and she never called us back. When all of sudden, she ends the voicemail that they have the test results and are pretty sure they have a diagnosis.
WHAT?! A DIAGNOSIS? YES, A DIAGNOSIS!
I call Hubs. Yes, I’m crazy. I had to call and tell him about the voicemail BEFORE I called the geneticist to tell him what the geneticist said. Then I had to hang up and call the geneticist and ask her what is going on.
He has a mutation on his X-Chromosome. This is called an X-Linked Intellectual Disability. My son will be mentally retarded, have hypertonia, microcephaly and is at risk for seizures, vision loss and hearing loss. I call Hubs and relay the message, he calls the geneticist too. Now the question is, is it hereditary? We got an order for my blood work and we went right up to a satellite branch and had my blood taken.
I am now looking at my beautiful son with his X-chromosome issues while holding my belly praying that I’m not a carrier and we don’t have the same worry for Baby #2.
This isn’t the end of the story, just wait for the third piece.