Tuesday, February 9, 2010

Chromosomal Significance

What is the importance of a chromosome that has a duplicated segment? What happens if that same chromosome has two segments that have duplicated? These very questions have tormented me for the last 24 hrs. Dr. D. called saying Maddie’s chromosomal micro array results came back. I’d been waiting for the results… I started to get antsy last Thursday when they weren’t in yet. I think she could sense my anticipation because she just cut to the chase… “the results were abnormal” My heart started racing… It was beating so fast and so hard I felt it in my head. I was waiting for the punch…this is indicative of _______ syndrome…., but Dr. D wasn’t able to deliver a punch … she didn’t know what it meant. I was referred to another one of Maddie’s doctors, Dr. K, who’s more versed in the world of genetics. Unfortunately it was 4pm and I wasn’t able to get in touch with Dr K. I spent all night waiting for today, and it was a looooong night! Maddie was in an incredibly happy mood both last night and this morning... I needed her smiles. For anyone who hasn’t met her yet, her smiles make you forget about the world around you…. but still, after I got to work I psycho dialed Dr K to no avail. (She really should put her office hrs on the message machine). I did however receive a phone call from the neurologist (Yes, the one I fired.) For some reason he was copied on the lab results. He didn’t have any answers for me either… he referred me to a geneticist at Stanford. I asked him to fax me a copy of the lab paperwork. I was going to figure this out…

4.18 MB Duplication of 5Q14.3-Q15
13.9 MB Duplication of SQ21.1-Q22.2
The considerable size, number or annotated genes in the intervals and the low percentage of known variant region overlap all strongly suggest that these gains do not represent normal familial variation.
distal segments: RGMB, CHD1, PST, SLC04C1, PAM, HISPPD1, CUDT12, EFNA5, FER, MAN2A1, SLC25A46, TSLP, WER36, CAMK4, STARD4, C5orf13, EPB41L4A

That's a little sample of the 2 page report. Uggh… why can’t they talk in laments terms? Google is overrated too! I googled for hrs and hrs! A friend helped interpret some of the jargon, but we still don’t know what the whole picture means. Dr. K finally called me back this afternoon… she informed me she has an email out to someone at the M.I.N.D institute at UC DAVIS and a phone call into her contact at Stanford. She wasn't as versed as we thought... but she has resources!  Hopefully we’ll have more definitive answers tomorrow.
I had amazing support today. I can’t tell you what kind of emotional state I’d be in without the girls on my BBC board. Maddie, George, and I… we’ll be okay. If it’s big, we’ll get through it, but I have a feeling it isn’t going to tell us anything we don’t already know. Maybe it’ll give it all a name, maybe not… but IT CAN’T CHANGE MADDIE, she’ll still be the smiley little peanut who has me wrapped around her little finger … nothing can change the way my heart feels for her. I’ve learned what true unconditional love is. Hopefully I’ll learn the meaning of two duplicated segments on the 5th chromosome tomorrow.


  1. Wow, that is deep! LOL! I am a total genetics nerd. I have two girls with Down syndrome, one is biological and one is adopted. My bio daughter has the "rarest" form of Down syndrome and I plowed into genetics to figure out how, why, who, what. But this diagnosis has me flustered -- not that I'm an expert. Haha.

    Off to

  2. Hi Stacy...I haven't seen you around much, is everything going ok? Any word yet on getting an explanation of the results?? oxoxo