The reason for this title, if you know me or talk to me it is no secret that Genetics fascinates me to no end and we have advanced way past Genetics 101....
Jeremy was "clinically" diagnosed on March 23, 2005 with FG syndrome by Dr. John Optiz at his clinic in Salt Lake City, Utah. We went to see him because there was no blood test and he was one of the founders, so who better to see Jeremy. The burning issue with genetics, it's a slow turning wheel, nothing happens fast, you need a geneticist who is willing to actually take on a syndrome, study, figure out what chromosome has the mutation and come up with a blood test. There are so many chromosome mutations that there just is no information on because they have not been studied.
Greenwood Genetic clinic decided to research FG syndrome and to my knowledge they have a blood test for FG1, FG2 and working on FG3. Jeremy did not test for FG1 or FG. In fact, Greenwood clinic felt that Jeremy was in fact not Fg syndrome.
FG syndrome is an X-recessive disorder. Females have 46XX chromosomes and males have 46XY chromosomes, so boys get their X from their moms. That would mean that one of my X chromosomes has some issues and Jeremy received that one.
On the long arm of the Xq28 chromosome is the L1cam gene, also known as the brain gene. Jeremy having hydrocephalus, Agensis of the corpus callosum, they wanted to test that one. Jeremy had a significant mutation but the syndromes associated with the L1cam, Jeremy did not fit he had other issues that could not be answered with this finding. They tested mine and I have the same mutation. The thought is this is not significant to Jeremy's findings. Who knows in reality until someone decides to research the L1cam gene.
Jeremy added a new twist to his picture or it's a fluke but the spine MRI we did last year showed that Jeremy had a loose ligament around his vertebrae which is common finding in people with down syndrome. Jeremy has 46XY chromosome.
Dr. Kayser our geneticist in Tulsa, recommended that we do a modern-array CGH test, this will test Jeremy's chromosomes to see if there are any mutations on any of the chromosomes. This test has only been available in the last 5- 6 years so we never did one on Jeremy. Dr. Optiz agrees and wants to see this done on Jeremy before they set in concrete the FG3 criteria. If it comes back normal then Jeremy will more than like be classified as FG3.
Dr. Optiz and Dr. Kayser both say, Jeremy is typical, clinical FG syndrome. We remain FG syndrome until further notice. If the blood test comes with a mutation this could be a whole new chapter in our live in which I will title Genetics 301....
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