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Archive for the ‘Freeman Sheldon Syndrome’ Category

postheadericon Geneticist Visit


 On 9/16/08, we visited the geneticist, Dr. Blackston, in Macon, GA.  I finally received the summary letter on 4/18/09.  It took us over a year to get the appointment, and then when we got there, we had to wait forever.  The Macon Health Dept. is probably one of the most disorganized places I’ve ever seen.  But I was happy to be able to get in to see the doctor there instead of having to drive to Emory University in Atlanta.  Children’s Medical Services always has to scramble a little because we are “private insurance”.  I make too much money to be eligible for medicare/medicaid, but of course, with no child support, I can’t hardly afford her medical bills.  Go figure.

Anyway, back to the letter.  He confirmed the original diagnosis of Freeman Sheldon Syndrome… “pursed lips giving the whistling face appearance, curved fingers, trigger thumb, and vertical talus, deep set eyes, protruding chin”.  In describing her hands, he noted “camptodactyly of the fingers and curving of the fifth fingers”.  Her legs and feet he noted “overlapping toes, and the right leg is smaller with the vertical talus”.  He also confirmed the shoulder tightness as “scapular(?)__smal glenoid”, which had been diagnosed previously with x-rays as glenoid hypoplasia.   He also examined the repaired cleft palate and described as “she has had tight or mask-like facies, small ala nasale, and a high palate”.  He agreed she has the “classic features” of FSS.

Dr. Blackston described her as an “attractive, intelligent young lady”,  “neurologically intact and with good cognition”.  He also emphasized to us that this is a dominantly inherited syndrome (there are no instances of FSS in our family), and there is a 50% risk of transmitting it to her children.  I advised Dr. Blackston during our visit that a new gene had been discovered and gene testing is available by DNA analysis.  The nurse added a handwritten note to the letter that there are currently only 2 labs in  Germany that can conduct the tests.

Dr. Blackston wishes to follow up on a yearly basis, and to do the DNA testing, if possible, recommends she continue with her therapies, and to see the orthopedic specialist.

Nothing really new in the letter.  In fact, I probably knew just as much about it as he did.  He was impressed with my use of the terminology (such as glenoid hypoplasia) and that I was informed on the aspects of the syndrome.  During the exam, he did tell us that he did have several patients with the syndrome.  He referred us to the Parent to Parent of Georgia to find support, but so far, I haven’t had any success with finding anyone in the support group.

We don’t have an appointment with the orthopedic doctor yet.  I’m a little concerned that her right foot is turning in at the toes.

Otherwise, all is well.


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