Guest guest Posted October 26, 2010 Report Share Posted October 26, 2010 Hi Everyone, Since you all have supported us along our journey, I wanted to share an update. Most of you were part of this group when I joined several years ago. Conner, at age 9, was diagnosed with CVID, but some of our docs questioned it and I didn't really believe the diagnosis was accurate. We continued to visit immunologists over the next few years until we finally found a doctor who did genetic testing and diagnosed him with NEMO (he had none of the associated physical symptoms). We went to the NIH and were told that he wouldn't likely survive to become an adult. They explained that he was one of the oldest living NEMO patients at that time. Our options were a risky bone marrow transplant or we could just enjoy the remaining time we had left with him. For Conner, it was an easy decision and preparation for transplant began immediately. Before Conner's transplant his lungs were moderately impaired and were continuing to decline, even on IVIG. He would get out of breath just walking upstairs - real physical activity was not a possibility for him. It's been three years since his transplant and he's now running 7 miles a day with his cross country team! I never imagined that would have been possible. Conner is now cured of NEMO, is off all meds, and enjoying high school without any restrictions. His lung function is now considered normal. It wasn't an easy journey, but we are so thankful to be where we are! Of course our NEMO journey is not over. Kelsey is now a teenager and wondering, as a NEMO carrier, what she will do about having children. Our transplant doc has had some pretty serious conversations with her about making sure she doesn't have an unplanned pregnancy. At this point she thinks she will probably adopt. Conner says that is a good idea :-) I hope this message encourages parents to keep looking for answers if you feel like things aren't adding up. Once again, thank you for all of the encouragement over the years, I truly believe your support helped us get Conner diagnosed accurately! (NEMO carrier) Mom to Hayden (16-unknown PID) Evan (16-unknown PID) Conner (16-NEMO; bone marrow transplant 8/17/07) Kelsey (14-unknown PID and NEMO carrier) Wife to (unknown PID) www.caringbridge.org/visit/smithkids Quote Link to comment Share on other sites More sharing options...
Guest guest Posted October 26, 2010 Report Share Posted October 26, 2010 Hard to believe that was so long ago, ! I remember meeting you for the first time while Conner was inpatient. So glad to hear he's running cross country and thriving! Wish we could have gotten together more when we lived in Indiana. Mom of 4 kids, 3 with mito (2 on IVIG due to immune deficiencies due to mito) On Tue, Oct 26, 2010 at 9:00 AM, <kristin-smith@...>wrote: > > > Hi Everyone, > > Since you all have supported us along our journey, I wanted to share an > update. Most of you were part of this group when I joined several years ago. > Conner, at age 9, was diagnosed with CVID, but some of our docs questioned > it and I didn't really believe the diagnosis was accurate. We continued to > visit immunologists over the next few years until we finally found a doctor > who did genetic testing and diagnosed him with NEMO (he had none of the > associated physical symptoms). We went to the NIH and were told that he > wouldn't likely survive to become an adult. They explained that he was one > of the oldest living NEMO patients at that time. Our options were a risky > bone marrow transplant or we could just enjoy the remaining time we had left > with him. For Conner, it was an easy decision and preparation for transplant > began immediately. > > Before Conner's transplant his lungs were moderately impaired and were > continuing to decline, even on IVIG. He would get out of breath just walking > upstairs - real physical activity was not a possibility for him. It's been > three years since his transplant and he's now running 7 miles a day with his > cross country team! I never imagined that would have been possible. Conner > is now cured of NEMO, is off all meds, Hat enjoying high school without any > restrictions. His lung function is now considered normal. It wasn't an easy > journey, but we are so thankful to be where we are! > > Of course our NEMO journey is not over. Kelsey is now a teenager and > wondering, as a NEMO carrier, what she will do about having children. Our > transplant doc has had some pretty serious conversations with her about > making sure she doesn't have an unplanned pregnancy. At this point she > thinks she will probably adopt. Conner says that is a good idea :-) > > I hope this message encourages parents to keep looking for answers if you > feel like things aren't adding up. Once again, thank you for all of the > encouragement over the years, I truly believe your support helped us get > Conner diagnosed accurately! > > (NEMO carrier) > Mom to Hayden (16-unknown PID) > Evan (16-unknown PID) > Conner (16-NEMO; bone marrow transplant 8/17/07) > Kelsey (14-unknown PID and NEMO carrier) > Wife to (unknown PID) > www.caringbridge.org/visit/smithkids > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted October 26, 2010 Report Share Posted October 26, 2010 , Thanks for sharing Connor's story...what a wonderful.....well,not ending....what a wonderful beginning! Much love to your entire family...sue From: <kristin-smith@...> Subject: Conner update kristin-smith@... Date: Tuesday, October 26, 2010, 1:00 PM  Hi Everyone, Since you all have supported us along our journey, I wanted to share an update. Most of you were part of this group when I joined several years ago. Conner, at age 9, was diagnosed with CVID, but some of our docs questioned it and I didn't really believe the diagnosis was accurate. We continued to visit immunologists over the next few years until we finally found a doctor who did genetic testing and diagnosed him with NEMO (he had none of the associated physical symptoms). We went to the NIH and were told that he wouldn't likely survive to become an adult. They explained that he was one of the oldest living NEMO patients at that time. Our options were a risky bone marrow transplant or we could just enjoy the remaining time we had left with him. For Conner, it was an easy decision and preparation for transplant began immediately. Before Conner's transplant his lungs were moderately impaired and were continuing to decline, even on IVIG. He would get out of breath just walking upstairs - real physical activity was not a possibility for him. It's been three years since his transplant and he's now running 7 miles a day with his cross country team! I never imagined that would have been possible. Conner is now cured of NEMO, is off all meds, and enjoying high school without any restrictions. His lung function is now considered normal. It wasn't an easy journey, but we are so thankful to be where we are! Of course our NEMO journey is not over. Kelsey is now a teenager and wondering, as a NEMO carrier, what she will do about having children. Our transplant doc has had some pretty serious conversations with her about making sure she doesn't have an unplanned pregnancy. At this point she thinks she will probably adopt. Conner says that is a good idea :-) I hope this message encourages parents to keep looking for answers if you feel like things aren't adding up. Once again, thank you for all of the encouragement over the years, I truly believe your support helped us get Conner diagnosed accurately! (NEMO carrier) Mom to Hayden (16-unknown PID) Evan (16-unknown PID) Conner (16-NEMO; bone marrow transplant 8/17/07) Kelsey (14-unknown PID and NEMO carrier) Wife to (unknown PID) www.caringbridge.org/visit/smithkids Quote Link to comment Share on other sites More sharing options...
Guest guest Posted October 26, 2010 Report Share Posted October 26, 2010 I'm glad to hear he is doing so awesome! I hope one day they manage to find cures for all our kids:) For Kelsey, adoption is certainly an option but she will also have the option of IVF with PGD since you know where the defect is and can select it out. Its expensive but I'm guessing by the time she's ready for children the tech will be a bit cheaper and she may even be able to get her insurance to cover it knowing she is a carrier. Of course whats the chance her future partner would also be a carrier? Could end up being a moot point:) 10 CVID ________________________________ From: <kristin-smith@...> kristin-smith@... Sent: Tue, October 26, 2010 6:00:01 AM Subject: Conner update Hi Everyone, Since you all have supported us along our journey, I wanted to share an update. Most of you were part of this group when I joined several years ago. Conner, at age 9, was diagnosed with CVID, but some of our docs questioned it and I didn't really believe the diagnosis was accurate. We continued to visit immunologists over the next few years until we finally found a doctor who did genetic testing and diagnosed him with NEMO (he had none of the associated physical symptoms). We went to the NIH and were told that he wouldn't likely survive to become an adult. They explained that he was one of the oldest living NEMO patients at that time. Our options were a risky bone marrow transplant or we could just enjoy the remaining time we had left with him. For Conner, it was an easy decision and preparation for transplant began immediately. Before Conner's transplant his lungs were moderately impaired and were continuing to decline, even on IVIG. He would get out of breath just walking upstairs - real physical activity was not a possibility for him. It's been three years since his transplant and he's now running 7 miles a day with his cross country team! I never imagined that would have been possible. Conner is now cured of NEMO, is off all meds, and enjoying high school without any restrictions. His lung function is now considered normal. It wasn't an easy journey, but we are so thankful to be where we are! Of course our NEMO journey is not over. Kelsey is now a teenager and wondering, as a NEMO carrier, what she will do about having children. Our transplant doc has had some pretty serious conversations with her about making sure she doesn't have an unplanned pregnancy. At this point she thinks she will probably adopt. Conner says that is a good idea :-) I hope this message encourages parents to keep looking for answers if you feel like things aren't adding up. Once again, thank you for all of the encouragement over the years, I truly believe your support helped us get Conner diagnosed accurately! (NEMO carrier) Mom to Hayden (16-unknown PID) Evan (16-unknown PID) Conner (16-NEMO; bone marrow transplant 8/17/07) Kelsey (14-unknown PID and NEMO carrier) Wife to (unknown PID) www.caringbridge.org/visit/smithkids Quote Link to comment Share on other sites More sharing options...
Guest guest Posted October 26, 2010 Report Share Posted October 26, 2010 Thanks, Everyone. , I wish we had gotten together too! I remember when you came to the hospital, we were in there for what felt like forever. , BMT is a cure for many of the immune deficiencies, however the risk just outweighs the benefit in most cases. I'm hoping they find a way to make it safer for other patients, the statistics keep getting better all of the time. We went through transplant with a girl who had CVID, so they do use it for more severe cases. NEMO is x-linked, so unfortunately Kelsey will have a 50/50 chance of passing on the disorder to her children. She initially said she would maybe do reproductive technology, now she says she wants to adopt a little girl from China :-) Who knows? Take care, > > I'm glad to hear he is doing so awesome! I hope one day they manage to find > cures for all our kids:) For Kelsey, adoption is certainly an option but she > will also have the option of IVF with PGD since you know where the defect is and > can select it out. Its expensive but I'm guessing by the time she's ready for > children the tech will be a bit cheaper and she may even be able to get her > insurance to cover it knowing she is a carrier. Of course whats the chance her > future partner would also be a carrier? Could end up being a moot point:) > > > 10 CVID > > > > > > ________________________________ > From: <kristin-smith@...> > kristin-smith@... > Sent: Tue, October 26, 2010 6:00:01 AM > Subject: Conner update > > Hi Everyone, > > Since you all have supported us along our journey, I wanted to share an update. > Most of you were part of this group when I joined several years ago. Conner, at > age 9, was diagnosed with CVID, but some of our docs questioned it and I didn't > really believe the diagnosis was accurate. We continued to visit immunologists > over the next few years until we finally found a doctor who did genetic testing > and diagnosed him with NEMO (he had none of the associated physical symptoms). > We went to the NIH and were told that he wouldn't likely survive to become an > adult. They explained that he was one of the oldest living NEMO patients at that > time. Our options were a risky bone marrow transplant or we could just enjoy the > remaining time we had left with him. For Conner, it was an easy decision and > preparation for transplant began immediately. > > > Before Conner's transplant his lungs were moderately impaired and were > continuing to decline, even on IVIG. He would get out of breath just walking > upstairs - real physical activity was not a possibility for him. It's been three > years since his transplant and he's now running 7 miles a day with his cross > country team! I never imagined that would have been possible. Conner is now > cured of NEMO, is off all meds, and enjoying high school without any > restrictions. His lung function is now considered normal. It wasn't an easy > journey, but we are so thankful to be where we are! > > > Of course our NEMO journey is not over. Kelsey is now a teenager and wondering, > as a NEMO carrier, what she will do about having children. Our transplant doc > has had some pretty serious conversations with her about making sure she doesn't > have an unplanned pregnancy. At this point she thinks she will probably adopt. > Conner says that is a good idea :-) > > > I hope this message encourages parents to keep looking for answers if you feel > like things aren't adding up. Once again, thank you for all of the encouragement > over the years, I truly believe your support helped us get Conner diagnosed > accurately! > > > (NEMO carrier) > Mom to Hayden (16-unknown PID) > Evan (16-unknown PID) > Conner (16-NEMO; bone marrow transplant 8/17/07) > Kelsey (14-unknown PID and NEMO carrier) > Wife to (unknown PID) > www.caringbridge.org/visit/smithkids > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted October 26, 2010 Report Share Posted October 26, 2010 I am happy that Conner is doing so well now and that he had the option of doing a BMT, that is truly a miracle. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted October 27, 2010 Report Share Posted October 27, 2010 There is also another option. We have been working with Duke and there inutero stem cell transplants. They transplant the fetus at about 13 weeks gestation instead of waiting and doing a full bone marrow transplant later. We have a family full of carriers of Hyper IGM so we have looked into everything. Good Luck > > Hi Everyone, > > Since you all have supported us along our journey, I wanted to share an update. Most of you were part of this group when I joined several years ago. Conner, at age 9, was diagnosed with CVID, but some of our docs questioned it and I didn't really believe the diagnosis was accurate. We continued to visit immunologists over the next few years until we finally found a doctor who did genetic testing and diagnosed him with NEMO (he had none of the associated physical symptoms). We went to the NIH and were told that he wouldn't likely survive to become an adult. They explained that he was one of the oldest living NEMO patients at that time. Our options were a risky bone marrow transplant or we could just enjoy the remaining time we had left with him. For Conner, it was an easy decision and preparation for transplant began immediately. > > Before Conner's transplant his lungs were moderately impaired and were continuing to decline, even on IVIG. He would get out of breath just walking upstairs - real physical activity was not a possibility for him. It's been three years since his transplant and he's now running 7 miles a day with his cross country team! I never imagined that would have been possible. Conner is now cured of NEMO, is off all meds, and enjoying high school without any restrictions. His lung function is now considered normal. It wasn't an easy journey, but we are so thankful to be where we are! > > Of course our NEMO journey is not over. Kelsey is now a teenager and wondering, as a NEMO carrier, what she will do about having children. Our transplant doc has had some pretty serious conversations with her about making sure she doesn't have an unplanned pregnancy. At this point she thinks she will probably adopt. Conner says that is a good idea :-) > > I hope this message encourages parents to keep looking for answers if you feel like things aren't adding up. Once again, thank you for all of the encouragement over the years, I truly believe your support helped us get Conner diagnosed accurately! > > (NEMO carrier) > Mom to Hayden (16-unknown PID) > Evan (16-unknown PID) > Conner (16-NEMO; bone marrow transplant 8/17/07) > Kelsey (14-unknown PID and NEMO carrier) > Wife to (unknown PID) > www.caringbridge.org/visit/smithkids > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted October 27, 2010 Report Share Posted October 27, 2010 Beautiful, . I remember when Conner was a little tyke. You showed us pictures of him doing sub-q and made us feel good about trying something different. You've always been on the cutting edge, , trying to navigate this disorder when there was little guidance. I remember you posting to the group and doing research on transplant--and the experts not having concensus. Fortunately, you were able to find the right team of doctors for Conner and got answers. I think that many of us have accepted that we may have to live without " genetic " answers. (I go back and forth, still.). You and your kids are an inspiration. I'm so happy to hear how Conner is doing. Keep us posted! Best, Mom to Dani, cvid Gabe, hypogam Sent from my Sprint® BlackBerry ~~~~~~~~~~~~~~~~~~~~~~ Conner update Hi Everyone, Since you all have supported us along our journey, I wanted to share an update. Most of you were part of this group when I joined several years ago. Conner, at age 9, was diagnosed with CVID, but some of our docs questioned it and I didn't really believe the diagnosis was accurate. We continued to visit immunologists over the next few years until we finally found a doctor who did genetic testing and diagnosed him with NEMO (he had none of the associated physical symptoms). We went to the NIH and were told that he wouldn't likely survive to become an adult. They explained that he was one of the oldest living NEMO patients at that time. Our options were a risky bone marrow transplant or we could just enjoy the remaining time we had left with him. For Conner, it was an easy decision and preparation for transplant began immediately. Before Conner's transplant his lungs were moderately impaired and were continuing to decline, even on IVIG. He would get out of breath just walking upstairs - real physical activity was not a possibility for him. It's been three years since his transplant and he's now running 7 miles a day with his cross country team! I never imagined that would have been possible. Conner is now cured of NEMO, is off all meds, and enjoying high school without any restrictions. His lung function is now considered normal. It wasn't an easy journey, but we are so thankful to be where we are! Of course our NEMO journey is not over. Kelsey is now a teenager and wondering, as a NEMO carrier, what she will do about having children. Our transplant doc has had some pretty serious conversations with her about making sure she doesn't have an unplanned pregnancy. At this point she thinks she will probably adopt. Conner says that is a good idea :-) I hope this message encourages parents to keep looking for answers if you feel like things aren't adding up. Once again, thank you for all of the encouragement over the years, I truly believe your support helped us get Conner diagnosed accurately! (NEMO carrier) Mom to Hayden (16-unknown PID) Evan (16-unknown PID) Conner (16-NEMO; bone marrow transplant 8/17/07) Kelsey (14-unknown PID and NEMO carrier) Wife to (unknown PID) www.caringbridge.org/visit/smithkids Quote Link to comment Share on other sites More sharing options...
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