Please login to post a response.

• Iowa Update
• Posted: 2008-01-29 00:58:38 By Stephanie R
• Hello Darran and everyone,
  
  I haven't posted in a little while but wanted to update you on my visit to Dr. Stone a week or so ago. Thank you so much for bringing him to my attention! The whole place, but especially Dr. Stone, was just wonderful.
  
  Anyway, it seems that I am quite the anomaly. I have x-linked cone-rod dystrophy as a manifesting carrier and also the optic neuritis that is associated with multiple sclerosis. I also have MS. He said my optic nerves had been "dinged" by the optic neuritis which causes the episodes of "dimness" like someone has turned out the lights and everything gets blurry after I read for an hour or so. All my other symptoms are associated with the CRD.
  
  I have the distinction of being the only person he has seen with this particular combination of diseases in the same eye! At any rate, I am so grateful to finally have answers and know what is going on after years of stumping every doctor I met.
  
  Thank you so much for letting me know about this man. I think he is probably one of the very few who could have sorted this all out. And I have never seen an eye doctor that said, "I know what is wrong," so that was worth the trip itself. Food in Iowa is good too ....
  
  Steph

• Re: Iowa Update
• Posted: 2008-01-29 15:09:41 By Darran Z
• Hi Steph,
  
  Glad to hear you got some answers. Yes, there are very few people out there like Dr. Stone who could sort this out. But at least you have some answers and know where to go and what to expect from now on.
  
  Now that you have this sorted out, you'd be able to qualify for any other services for the blind/VI in your state if you required.
  
  Darran

• Re: Iowa Update
• Posted: 2008-01-29 21:08:08 By Carol C
• Stephanie, I know the relief of finally knowing WHAT THIS IS.I've mentioned before that my brother has XLCRD as well. Do you by chance know any genealogy back from your grandmother? I say this as my brother's mutation has been identified, and the test is availale to family members. A 4th or 5th cousin has had it, and has the exact mutation ( we were not 100% sure of our genealogy connection, but now are).This would be especially helpful to relatives that are unsure of their status ( your kids, cousins), as some may choose to not have kids due to the risk, and it could relieve their worries.It's possible neither of your kids have it.My grandmother's cousin had 4 sons, only one had it ( one of her nieces has MS, too, by the way. Another has a form of cystic fibrosis, too. Apparently, our gene pool is really a cesspool.).My grandmother and g-grandmother each had one son, neither of them had it. I would love to explore if we may be related! Carol C.
  
  

• Re: Re: Iowa Update
• Posted: 2008-01-31 23:17:43 By Stephanie R
• Carol,
  I don't know any geneology (sp?). All of my relatives including my father, uncle, and grandmother have passed away so it would truly be a research project. I believe there is some French and German in there but that's all I know from her side. I can tell you that my grandmother had two children, both sons, and both were affected.
  
  It would be interesting to find out but will take me quite a while to sort out so it may be after my son gets a little older. We have school projects at the moment! You are right however, it is nice to have an answer. I've been many years without one.
  
  Steph

• Re: Re: Re: Iowa Update
• Posted: 2008-02-01 10:12:30 By Carol C
• Steph, if you can tell me where and when your grandmother was born ( assuming before 1930), and of course, her full maiden name, I can probably find her on the US census. If she is a child with her parents, I can find their names, and birthplaces, and keep going from there. Her marriage license would have her parents' names, including her mother's maiden name. Her death certificate , if filled out by someone who knew, should have parents' names as well.If you don't know her maiden name, your parents' marriage license should have it. I'd love to help you (maybe you kids want to make this a school project! Teach their classmates a little about genetics) If I can help, I'm at ectjcarlson@aol.com. XLCRD is incredibly rare, and I know this ancestor of mine has more descendants I don't know about. Don't forget CNTF- my brother has this implant, and is experiencing much improvement in 3 months. Not everyone is, and it only makes sense since many mutations are involved, different mutations will have different responses. Maybe CRD will respond to this! Carol C.

• Re: Iowa Update
• Posted: 2008-02-05 12:17:07 By Elizabeth M
• I am so happy that you found Dr. Stone. I have been working with him for years. I was dx at 18 and saw a number of different MDs. I started with Dr. Stone 10 years ago. He has the best interactions and common sense. He "gets" it. I live in Iowa and feel very fortunate.