Day #180

MISDIAGNOSIS!

For about a month now I have been stressing and worried sick about the diagnosis I received over the telephone from an associate of our neurologist. I am going to have some words for them when I process this completely and can speak rationally! I was told that Maeve had Miller-Dieker Syndrome which is related to Fragile X. WRONG! I went with Cathy (thank you I really appreciate your help!) and Maeve to a genetic counselor appointment at Sutter Outpatient Clinics in Sacramento today only to find out that I was given a misdiagnosis over the telephone. What you see illustrated here is chromosome 17 which is what is abnormally affected in Maeve. On the short arm (p) of chromosome 17-13.3 (circled in pen) there is NOT a deletion as is found in Miller-Dieker, there is actually a duplication. Instead of having two as we all do, Maeve has 3. Which can manifest itself as developmental delays and is the most likely cause of her autism. The blood test results for Fragile X:NORMAL, the blood test results for Rhett Syndrome:NORMAL. They found this abnormality when they conducted a blood test called Oligo-SNP Array and found that Maeve has a 284kb gain at 17p13.3. Riddle me this: how can such a fractionally minute amount of extra material on the short arm of a chromosome cause such developmental delays?! I still find it hard to fathom that I was given completely WRONG information by someone from our neurologists office! We were not able to see the geneticist himself today so we will have to go back in November but I am so relieved, I really am! It was suggested that Gerard and I have blood taken for a chromosomal micro-array to determine if one or both of us is a carrier, should be interesting to find out. All in all I have to say it was a smooth trip, a great day, we had a car door opening incident but that was quickly remedied, found out some good news, had great sandwiches from the Sacramento Natural Foods Co-op, and now I am sitting her having coffee and trying to process all the information I have just downloaded :D