Guest guest Posted September 16, 2006 Report Share Posted September 16, 2006 I just thought I'd post a quick update to let everyone know that we have a new diagnosis for Conner, although they are currently double checking it. It seems that he has a genetic defect called NEMO, a form of x-linked hyper IgM. This is a combined immunodeficiency (affecting B, T & NK cells) and we were told that if he did have the defective gene for this, he would likely have to undergo a bone marrow transplant. Since this is an x-linked disorder, it comes from me, I must have been the carrrier. However, he also has a seperate immune deficiency affecting the complement system, the genetic defect was located for that, as well. Dad is the one who contributed this one. The poor kid evidentally has bad genes! I'm not sure if they will continue to search for other defects for him... I'm also not sure when we will begin genetic testing on the other kids. God Bless Cincinnati Children's Hospital and Dr. Bleesing! If not for him, I doubt that we would ever have uncovered these genetic issues. The other immunos were more than willing to just assume CVID and stop looking for a dx. I think this will take some time to sink in... Another NEMO parent has stats on his website that says that there are 40-some documented cases of NEMO, only 15-18 are still surviving. It appears to me that Conner would be one of the oldest. Hopefully the NIH will be able to help! Take care, Mom to Conner (12, unknown combined immune deficiency, lymphadenopathy, asthma, Hashimoto's disease and resolved adrenal insufficiency), Hayden (12, unknown immune deficiency, IBS and moderate hearing loss/aided), Evan (12, unknown immune deficiency, asthma and mild hearing loss/unaided), and Kelsey - (10, unknown immune deficiency and asthma) Please visit us at www.caringbridge.org/in/connersmith Quote Link to comment Share on other sites More sharing options...
Guest guest Posted September 16, 2006 Report Share Posted September 16, 2006 - he might be a spontaneous mutation. If so then thankfully your daughter might not also be one. Is the NIH study run through Susie Dill? What doctor seems to lead the country in NEMO work? or do most HIM docs deal with the NEMO variant. I know that BMT in HIM is such a toss up and I'm curious if he has had a problem with crypto or any liver problems? It's a hard decision to make. Many HIM families are on the fence about what to do. Ursula - mom to (13) and Macey (11, CVID) http://www.primaryimmune.org http://www.jmfworld.org http://members.cox.net/maceyh Quote Link to comment Share on other sites More sharing options...
Guest guest Posted September 18, 2006 Report Share Posted September 18, 2006 Ursula, I'm hoping this is a spontaneous mutation! The two leading NEMO docs are Dr. Jain at NIH and Dr. Orange at CHOP. We have been in contact with both of them and they say that Dr. Bleesing is capable of handling this. When we saw Bleesing in July he told us that transplant would likely be in our future if Conner had the NEMO defect. He is not someone to recommend transplant lightly for CID kids (and isn't even sure about a SCID child that I am aware of). When he contacted us about the findings, he told us that he still had to find out what the mutation meant for Conner, so I suspect that he just isn't sure at the moment. What we have learned is that there have been no documented cases of a person with NEMO surviving past age 20. Obviously infections and liver problems are a big component of that. I can't help but think there must be undiagnosed people out there who have, at least that's what I'm hoping. Personally speaking, I am only aware of five NEMO kids - four have been transplanted, the other is searching for a donor. Three of the kids are doing well post-transplant, the fourth has failed and will likely repeat it. As for crypto and liver issues. Conner and Hayden are currently being looked at for this possibilty. They both have elevated liver enzymes and are having lots of intestinal issues. I actually have been on the phone with our infectious disease office for the last half hour, trying to figure out what our next step is going to be. It was a rough weekend around here! Hopefully we'll know something soon. I'm trying to just take this all a day at a time. I feel like we don't really know what direction we will be going and we will do a lot of research before a decision is made. I'm glad we have the support groups to get info from! Take care, Mom to Conner (12, unknown combined immune deficiency, lymphadenopathy, asthma, Hashimoto's disease and resolved adrenal insufficiency), Hayden (12, unknown immune deficiency, IBS and moderate hearing loss/aided), Evan (12, unknown immune deficiency, asthma and mild hearing loss/unaided), and Kelsey - (10, unknown immune deficiency and asthma) Please visit us at www.caringbridge.org/in/connersmith Quote Link to comment Share on other sites More sharing options...
Guest guest Posted September 19, 2006 Report Share Posted September 19, 2006 , That is something that they have considered with as well.... Dr. K and Dr. G....... jacob is having some new issues, so are on our way to see a geneticist as well. He is developing new cafe au lait spots weekly...many are small, but it is becoming worrisome to me. I'm way behind here...Hope to check email tonight. Quoting kristinsmith <kristinsmith@...>: > I just thought I'd post a quick update to let everyone know that we have a > new diagnosis for Conner, although they are currently double checking it. It > seems that he has a genetic defect called NEMO, a form of x-linked hyper IgM. > This is a combined immunodeficiency (affecting B, T & NK cells) and we were > told that if he did have the defective gene for this, he would likely have to > undergo a bone marrow transplant. > > Since this is an x-linked disorder, it comes from me, I must have been the > carrrier. However, he also has a seperate immune deficiency affecting the > complement system, the genetic defect was located for that, as well. Dad is > the one who contributed this one. The poor kid evidentally has bad genes! > I'm not sure if they will continue to search for other defects for him... > I'm also not sure when we will begin genetic testing on the other kids. > > God Bless Cincinnati Children's Hospital and Dr. Bleesing! If not for him, I > doubt that we would ever have uncovered these genetic issues. The other > immunos were more than willing to just assume CVID and stop looking for a dx. > > > I think this will take some time to sink in... > > Another NEMO parent has stats on his website that says that there are 40-some > documented cases of NEMO, only 15-18 are still surviving. It appears to me > that Conner would be one of the oldest. Hopefully the NIH will be able to > help! > > Take care, > > Mom to Conner (12, unknown combined immune deficiency, lymphadenopathy, > asthma, > Hashimoto's disease and resolved adrenal insufficiency), > Hayden (12, unknown immune deficiency, IBS and moderate hearing loss/aided), > > Evan (12, unknown immune deficiency, asthma and mild hearing loss/unaided), > > and Kelsey - (10, unknown immune deficiency and asthma) > Please visit us at www.caringbridge.org/in/connersmith > > > > Quote Link to comment Share on other sites More sharing options...
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