Andi
02-03-2006, 11:32 AM
Hi, everyone,
Well, my husband and I went to our first genetics counseling appointment Wednesday. It was an extremely interesting experience. After discussing my family history and showing the geneticist and the counselor family photos, my head was measured, my hands and feet examined and photographed, and then the professionals consulted and returned to give us their thoughts.
They agree with the diagnosis I had been given as a child, which at the time was Acrocephalysyndactaly Type III, now (thankfully) known by the shorter name Saethre-Chotzen. They pointed out why they believed this was so, showing articles of their own and how the features descibed in them corroborated with my family photos and my features. Turns out that this geneticist has done some molecular-level work on the implicated gene for SCS (the TWIST gene) and she happened to notice her name cited in one reference article she copied for us. (!)
In order to answer our questions about baby-making and passing the gene on, the first step for us was to run a DNA test on my blood to see if the TWIST gene was mutated or deleted. Apparently the genetics lab at this hospital is one of only a few in the country who have advanced techniques at detecting problems with the TWIST gene, so the geneticist seemed confident that this would show up in my test results. Once the mutation/deletion is found, then we could come back and meet with the OB/GYN within the genetics area who specializes in IVF and genetic conditions, and we could also meet with the plastic surgeons in the hospital to get their take on how severe the syndrome could be, and what kinds of surgical procedures would be available, if we had a child with SCS.
Because this hospital is such a large and well-known research facility, they see a lot of cases of SCS and therefore they are very knowledgeable about the syndrome and its genetics. I was so glad I went to them first to get help sorting out our questions regarding this. I’m feeling reassured that we will be able to make about the most well-informed decision possible in the end, whatever we decide to do. For now, though, we will be waiting 3-4 weeks for the results of the DNA test.
If any of you are interested in checking the genetics clinic out for yourself, I will happily give you the name and #s of the practitioners and the office. (It’s in Pennsylvania.)
Thanks for all your help so far, I will keep updating as we get more information that I think you might find helpful here.
Peace,
Andi
Well, my husband and I went to our first genetics counseling appointment Wednesday. It was an extremely interesting experience. After discussing my family history and showing the geneticist and the counselor family photos, my head was measured, my hands and feet examined and photographed, and then the professionals consulted and returned to give us their thoughts.
They agree with the diagnosis I had been given as a child, which at the time was Acrocephalysyndactaly Type III, now (thankfully) known by the shorter name Saethre-Chotzen. They pointed out why they believed this was so, showing articles of their own and how the features descibed in them corroborated with my family photos and my features. Turns out that this geneticist has done some molecular-level work on the implicated gene for SCS (the TWIST gene) and she happened to notice her name cited in one reference article she copied for us. (!)
In order to answer our questions about baby-making and passing the gene on, the first step for us was to run a DNA test on my blood to see if the TWIST gene was mutated or deleted. Apparently the genetics lab at this hospital is one of only a few in the country who have advanced techniques at detecting problems with the TWIST gene, so the geneticist seemed confident that this would show up in my test results. Once the mutation/deletion is found, then we could come back and meet with the OB/GYN within the genetics area who specializes in IVF and genetic conditions, and we could also meet with the plastic surgeons in the hospital to get their take on how severe the syndrome could be, and what kinds of surgical procedures would be available, if we had a child with SCS.
Because this hospital is such a large and well-known research facility, they see a lot of cases of SCS and therefore they are very knowledgeable about the syndrome and its genetics. I was so glad I went to them first to get help sorting out our questions regarding this. I’m feeling reassured that we will be able to make about the most well-informed decision possible in the end, whatever we decide to do. For now, though, we will be waiting 3-4 weeks for the results of the DNA test.
If any of you are interested in checking the genetics clinic out for yourself, I will happily give you the name and #s of the practitioners and the office. (It’s in Pennsylvania.)
Thanks for all your help so far, I will keep updating as we get more information that I think you might find helpful here.
Peace,
Andi