Monday, August 12, 2013

Updates - Genetic Testing

I haven't been keeping up on this as much as I would like. It has been a pretty busy summer so far. 

I took Jack for his genetic testing on 7/30. We went to Long Island Jewish. It took me about 3 months to get this appointment. I had to take the day off to go. They made us wait a long time and I always hate that.

When we got in there were two women there. The room was about 5 x 8 and we (Jack and I ) and the stroller were also in there. The woman started telling me what a gene was, what a chromosome was, etc. Pissed me off again. Why do they automatically assume you are an idiot? I explained to her that I was a biology major in college and I had a pretty good genetics background and I really just wanted to get the tests done. (Not a kindergarten level genetics lesson.) I told them we were supposed to have the deafness profile sent to Iowa and then a few more tests due to his cleft palate.

They then informed me that we couldn't do the deafness profile. The deafness profile gets sent to Iowa. The lab there is not a New York State accredited lab. Because they are not NY State accredited there are only so many tests from NY State they can do each year. They told me that the NY State limit had been reached the night before we got there. They told me we can send a few tests locally but we can't get the whole profile done. She said I can come back in January to have that done or I can go to another state to have his blood sent. Great. I waited three months to get in there and they can't send what I wanted sent. I hate LIJ. Immensely.

So we sent a few things and they said they will call me when the results come back. Luckily I do not have to go back there and have them hold my hand while they give me the results. I had to do that when I went for the genetic testing (BRCA) after being diagnosed with breast cancer. It was strange that they can call you up and tell you that you have cancer but they can't tell you the genetic test results unless you come in. They say it is because they wouldn't want to give you upsetting genetic news over the phone. But they can tell you that you have cancer over the phone. Go figure.

We should get the results in a few weeks. Until then we are working hard with physical therapy, enjoying summer and having fun!


  1. I didn't know about so much in DNA testing. Once a father got his son's DNA test in our neighborhood and the consequences was that, father came to know that he is not his own son. He disowned his son thereafter.

    Kunik Goel

  2. That has got to be frustrating. Nee York has some of the strangest medical rules!