Guest guest Posted June 24, 2005 Report Share Posted June 24, 2005 , Yes yes! You are now officially rare in several ways! Rare courage, rare beauty, rare mutation. I certainly hope this leads to better understanding of your disease pathology, and will in turn lead to more options and help. Isn't it interesting that two families post genetic breakthroughs back to back? What are the odds of this happening, given how few mito families ever get the precise genetic address, the " home " for the disease? Maybe we're on a roll here! One can only hope. Steve got his MERRF diagnosis a while back. Who's next? Step right up! Barbara _____ From: [mailto: ] On Behalf Of LILQT4U1984@... Sent: Friday, June 24, 2005 8:13 AM To: ; Malilibear@...; Moonchild62579@...; allyson.l.sisler@...; alnky@...; Utbrn@...; lisa@...; @...; go.shirl@...; ladybug_chaney@...; Msayed2@...; anne02@...; Cme4christ@...; Adia003509@...; Lpaige17@...; Traci1175@...; heatheres@...; Hollyorn@...; leehorsley@...; hope2222@...; IMJANER2@...; Malnic2185@...; Occsunshine@...; Lillian@...; rosefarm@...; ma2mje@...; davidm0508@...; Mtncntrygal@...; Mmmgn6@...; bethb48@...; kodonnell2@...; digby@...; sweetnana1@...; bpillow@...; daniellecoccinelle@...; roseschussler@...; aaschwenk@...; Staceyje@...; laurice_stevens@...; HiyaChica@...; LEMT13@... Subject: definitive Dx FINALLY! Recieved a call from Dr. Cohen's office yesterday that Dr. Schoffner had phoned their office and spoke directly with Cohen. My Carnitine Gene Defect study is complete after more than a year of waiting. It showed that I do have the gene defect. This has been suspected for years but now it has been proven. The big question now is what to do as I've not responded to the massive IV carnitine supplementation. The nurse didn't know anything either. Many months ago Cohen had said that once the definitive results were in that he could tap into a database and get more info from other specialists in this area. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted June 24, 2005 Report Share Posted June 24, 2005 I hope Dr. Cohen can find some help for you, now that the defect has been found. laurie > FINALLY! > > Recieved a call from Dr. Cohen's office yesterday that Dr. Schoffner had > phoned their office and spoke directly with Cohen. My Carnitine Gene Defect > study is complete after more than a year of waiting. It showed that I do have the > gene defect. This has been suspected for years but now it has been proven. > The big question now is what to do as I've not responded to the massive IV > carnitine supplementation. The nurse didn't know anything either. Many months > ago Cohen had said that once the definitive results were in that he could tap > into a database and get more info from other specialists in this area. > > > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted June 24, 2005 Report Share Posted June 24, 2005 , So glad they can now tap the greater body of knowledge. Hopefully that combined wealth of information will lead to successful recommendations toward treatment and helping you feel significantly better. We are still waiting for the entire mitochondrial genome studies from Atlanta. It has been two (almost 2 1/2 years) already. I some ways it won't change anything, yet it would give us the full physician support at some medical centers that has been lacking. It would also cement the girls decision to adopt their children when they are ready to start their families. Barbara Seaman wheatchild@...> wrote: , Yes yes! You are now officially rare in several ways! Rare courage, rare beauty, rare mutation. I certainly hope this leads to better understanding of your disease pathology, and will in turn lead to more options and help. Joanne Kocourek (mom to , lies, and ) visit us at: http://www.caringbridge.org/il/annakris Quote Link to comment Share on other sites More sharing options...
Guest guest Posted June 24, 2005 Report Share Posted June 24, 2005 Don't rule out your daughters having kids without knowing what the genetics of the situation is. I found my symptoms improve GREATLY when pregnant, and I have three kids now and may have more I have a definite mito disease, a complete lack of activity in Complex I. I think one thing to remember about mitochondrial diseases (which I've posted before) is that we essentially have many different diseases that affect the same system. So one form of mito may be heavily genetic, to the point of if the mother is affected, the children will be severely affected, and another may be " random " , due to acquired mutations from the environment or toxic exposure. The opposite can be true, healthy parents can have children with any of a number of rare genetic diseases... I was told by Dr. Shoffner that my genetic defect is almost certainly nDNA, not mtDNA, so as long as my husband doesn't have a similar defect, we should be okay. I am in the same boat as you guys, have waited 2.5 years for my genetic results and they still are pending. There are many nDNA defects that can lead to mitochondrial disease, with little or no chance of one's children getting it. Only one of my children has any signs of possibly having mito, and he is lightly affected at most. I don't know off-hand if that is the exception or common on this list, but as I mentioned it really depends on the particular genetic defect whether passing on " defective genes " to one's children should be a major or minor concern. Take care, RH > , Yes yes! You are now officially rare in several ways! Rare courage, > rare beauty, rare mutation. I certainly hope this leads to better > understanding of your disease pathology, and will in turn lead to more > options and help. > > > > Joanne Kocourek (mom to , lies, and ) > visit us at: http://www.caringbridge.org/il/annakris > > Quote Link to comment Share on other sites More sharing options...
Recommended Posts
Join the conversation
You are posting as a guest. If you have an account, sign in now to post with your account.
Note: Your post will require moderator approval before it will be visible.