This Chicago Sun-Times article tells of how (expensive) scientific techniques are being used to change the quality of life for one man and his children.
Art Kessler carries a mutant copy of the DYT1 gene and, as a result, suffers from a sometimes painful movement disorder called dystonia that makes muscles go haywire. Art and his wife wanted children and chose a technology called preimplantation genetic diagnosis (PGD), also known as embryo screening, to ensure that their children would not inherit the defective DYT1.
| | In PGD, the couple first undergoes in vitro fertilization. Eggs are removed from the woman and fertilized with the man's sperm. The resulting embryos are genetically analyzed, and only those embryos that do not carry the bad gene are transferred to the woman. So far, PGD has been used in 164 genetic diseases, including cystic fibrosis and sickle cell anemia, said Yury Verlinsky of Chicago-based Reproductive Genetics Institute, which pioneered the technology. More than 2,000 PGD babies have been born worldwide. PGD costs about $3,000 to $5,000, in addition to the cost of in vitro fertilization, which costs $10,000 to $15,000. |
The couple now has two healthy children who do not carry the defective DYT1.
To reduce his own dystonia symptoms Art Kessler tried another technique called "deep brain stimulation," or DBS.
| | In DBS, a surgeon drills two holes in the top of the head and implants electrodes in the brain. DBS costs $50,000 to $90,000. The electrodes deliver tiny electric pulses, which appear to short-circuit the wiring problem that causes dystonia, said Janet Hieshetter of the Dystonia Medical Research Foundation. It's very tolerable at this point," he said. "I feel like I've been cured." |
The use of technologies like embryo screening tend to raise questions like "is this ethical?" especially if people use the technology to screen for or against non-medical traits like hair color or eye color (which is not the case in Art's story)
I also wonder if Mr. Kessler's insurance company paid for the embryo screening and deep brain stimulation.
Want to learn more about dystonia? Check out this short video
Excerpts taken from this Chicago Sun-Times story
Image from here.
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Thanks for picking up the story about my family and Dystonia. to answer your question regarding insurance reimbursement, insurance did not pay for PGD. They did pay for most, but not all of the DBS surgery because I choose to see a surgeon that was out of my network. Otherwise, they would have paid for the entire cost of the surgery. It is very hard to get PGD paid for despite the fact that we saved our insurance company more than $100,000 over the life of the child that would have been required had he inherited the gene. It is ironic that they paid for my DBS (which was far more expensive) but not for the PGD. I guess they would rather pay for treating the consequences of Dystonia rather than the prevention.
Dear Art,
Thank you for your comment. I found your story interesting because it is a great example of how science can directly affect someone's life (and those are the kind of stories I enjoy writing about). I hope all is well & take care.
The use of technologies like embryo screening tend to raise questions like "is this ethical?" especially if people use the technology to screen for or against non-medical traits like hair color or eye color (which is not the case in Art's story)
You brought up a very good point with this question. I think we are going to be facing many more, tough questions like this. I read on a neurophysiology blog today that the writer thinks we are close to cloning people or it has already been done. Sometimes the question becomes is it legal as the determining factor as to whether a technology moves forward, rather than ethical, which can be oh so hard to get consensus on.
Dave Briggs :~)