Thursday, November 15, 2007

My Chromosomally Normal Male

On October 2, my son and I took a two-and-a-half hour drive to Grand Rapids to see a medical geneticist. I had asked my pediatrician for a referral because I was hoping to rule out a syndrome or two. A little over a year ago, we found out my oldest son has only one kidney that is only working at about sixty percent. When one puts that together with a history of growth and developmental delays, one starts to worry that maybe there is something else to be concerned about.

Unfortunately, for my son, he had to submit to a blood test after we spoke to the geneticist and the genetic counselor. He protested some. "You are being brave," I said. "No, I'm not!", he argued. The lab technician and I needed a little help holding him down, so the lady who checked us in came back. "See that wasn't so bad," said the lab technician. "Yes, it was," he told her before we exited her lab and headed for the exit in the waiting room. "That hurted," he told me. "I know, I'm sorry," I said, knowing I'd probably hear more about it on the way home and then some.

The results arrived on Halloween Day. I opened it. Three papers were in the envelope: A letter to our pediatrician (which had a Cc to me), A Fish Analysis Report (he tested negative for a 22q11.2), and a Chromosome Analysis Report. From the letter: "Your patient was seen in the Spectrum Health Pediatric Genetic Clinic on October 2, 2007. As part of his visit , genetic testing was undertaken for chromosome analysis and 22q11.2 deletion syndrome. The results of the completed genetic tests are normal. This information will be shared with the family."

"At this time we have no further recommendations from a genetics standpoints, and do not anticipate a need to see this family back again for follow-up."

The other two papers, the reports, were a mishmash of big medical words and a bunch of numbers. However, there were interpretations anyone could understand on both papers. The interpretation that jumped out at me was on the chromosome analysis report. It read, "Chromosomally Normal Male." '

"That's good to know," I thought, though his medical file in his pediatrician offices indicates that my son is not as 'normal' as most nine-year-old boys.

I was glad that the results provided good news. However, under the interpretation for the chromosome report was an additional sentence. "Triplication of the SNRPN region has been reported in some cases of autism. If you wish to utilize this probe please call the Cytogenetics Lab," it read. The sentence intrigued me, but for now I believe I am done with the genetic inquiries for awhile.

I know that my son has autism. We have been to the appropriate doctors and my son has been screened by an Autism Impairment team through his school system. It could, I suppose, be beneficial to know whether or not my son has the afore-mentioned anomaly. However, my feeling now is that it is unnecessary to probe any further.

1 comment:

one cytogenetics technologist said...

It is possible that the lab thought the doctor ordered chromosomal studies again... Just a blind guess... they wouldn't suggest it and then give you that answer. Sometimes the SNRPN studies are not done by the cytogenetics lab. You can ask for it again and have the doctor or genetic counselor make sure they send the requisition to the right place.
Unfortunately "chromosomally normal" doesn't mean there's nothing genetically wrong. Chromosomal studies are very useful and informative for some cases, but they can't give you a high resolution analysis of all the genes. When the chromosomal analysis is normal and we want to further investigate possible gene deletions/duplications some doctors may request another test called CGH (comparative genomic hybridization). It can detect genetic abnormalities that are too small to be seen by conventional chromosomal studies.