The Diagnosis – Part 1

August 31, 1990 is was certainly a memorable day. It’s the day we finally got an answer. Little did we know, this answer would lead to many more questions. While it is a day I will never forget, the details of the meeting are a little foggy due to the “shock” I felt as the news was delivered.

“Bennet’s chromosomes revealed an abnormal karyotype consisting of 47, which included 46 chromosomes arranged as 23 pairs, as well as an extra derivative chromosome consisting of the centromere and proximal portion of chromosome 21 with a translocated portion of the long arm of chromosome 9 attached to that 21 portion .”

Huh?? In other words there is an extra piece of Ben’s number 9 chromosome attached to the number 21 chromosome. And how did this happen? The test of my chromosomes revealed that I have a balanced translocation between the number 9 and the number 21 chromosome; meaning that I have the right amount of genetic material, only it’s in the wrong place. This has no consequence to my health. However, when my chromosomes are passed to offspring there is about a one in ten chance that the pair I pass along will create an imbalance. Such is the case with Ben. Because of the involvement of the 21 chromosome, the specialists in Texas actually first suggested that it was Down Syndrome. Down Syndrome results from a Trisomy 21, or an extra 21 chromosome. Our doctor asked that they “re-look “ because it was obvious by looking at Ben, he did not have Down Syndrome. That’s when they concentrated on the number 9 chromosome and were able to pinpoint the abnormality.

Ok, now we know what it is; so what does it all mean? The doctor made it clear that there were very few documented cases of Trisomy 9, and only six included the 9:21 switch. There really wasn’t enough data available to give us a good prognosis for Ben. However he did give us a fairly comprehensive list of common traits and symptoms among the few case studies that were available:

1. Narrow Head – a Ben trait
2. Delay in Growth – a Ben trait
3. Delay in Development and Learning Abilities – a Ben trait
4. Deep-Set Appearance to the Eyes – a Ben trait
5. Prominent Beaked Nose – a Ben trait
6. Small Mouth – a Ben trait
7. Small Recessed Chin – a Ben trait
8. Long Fingers and Toes – a Ben trait
9. Low Birth Weight – not a Ben trait
10. Joint Abnormalities – not a Ben trait

Prominent Nose, Small Mouth & Recessed Chin

Ben’s severe hypotonia, lack of muscle tone, did not show up in other cases. Ironically, this was the one factor that seemed to be most hindering his development at this stage

. Once again, I have to wonder how different Ben’s life would have been had we gone through with the c-section and avoided the trauma of the forceps delivery. How much did the lack of oxygen during childbirth contribute to Ben’s cerebral palsy? That’s one question to which we’ll never know the answer.