Guest guest Posted November 24, 2000 Report Share Posted November 24, 2000 , Would you please tell me the difference of presumptive and definitive NF 2? << The geneticist at the genetic clinic told us that my son has presumptive NF2. We also saw a geneticist at a NF clinic and were told my son has definitive NF2. >> I am doing a research article for my Advanced Magazine Writing class and I wanted to know if it is alright to use your information that you post? My name is Sally s and I also have NF 2 I am a journalist trying to gain exposure for this very secretive hard disease that is difficult to understand because as you've found there is not much material out there about it. Thanks, Sally Quote Link to comment Share on other sites More sharing options...
Guest guest Posted November 24, 2000 Report Share Posted November 24, 2000 , Are you sure you had the right e-mail address? I know this one works because Dr. MacCollin and I are talking right now about research for my article. Try once more and if you can't get it through then I can try for you. I find sometimes if my e-mails are long it won't go through (sometimes need to send half at a time). But your letter seems like it should make it. maccolli@... (Mia MacCollin) Sally Quote Link to comment Share on other sites More sharing options...
Guest guest Posted November 24, 2000 Report Share Posted November 24, 2000 - This is an excellent letter. I am sorry also you had wait so long to find out what was going on and the tumors removed were caught in time. It does seem amazing he didn't have more sypmtoms from the bigger tumor. Your medical lanuage is much greater than mine - did you notice? I am glad he is being monitored now. I would like your permission to forward your letter to my genectics doctor. I am 48 years old - daughter 28 years old wih two living children of her own. I did have a blood test but it was inconclusive. The second place my samples were sent were not doing this research at this time. You mentioned Massechusetts and I am wondering if my doctor is aware of this. Also, I believe it would be very informative for my doctor to read how many other doctors miss diagnosiing NF2. Perhaps more information can be shared amongst the doctors from our life stories. I will wait to hear from you to see if I have your permission to forward your letter. If not, I will not do it. Thanks so much for your letter to the crew. I believe you and Rosemary and Lori P. and some others should head up a commitee on NF2 research. Write it up and give it to the doctors!!!! God bless. Jane Fw: NF2 in Kids unable to send dr maccollion could anybody forward this letter thank you Fw: NF2 in Kids Dr. MacCollin, I am writing to you after reading your article about NF2 in Kids in the Late Fall, 1999 Issue of the NF2 Review. We just found out two months ago that our six year old son has NF2 and our local Texas NF Foundation gave us a copy of your article along with some other information about NF2. It's probably too late for our response, but I wanted to respond in hopes that more information will become available about NF2 in children. There is little to no information about NF2 in the medical books we have found. I have found most information regarding NF2 via the internet, but there is very little said about NF2 in regards to children. When our son was six months old his pediatrician noticed exotropia of his left eye. Our son saw a pediatric opthamologist who said he saw something in my sons eye that could be a hamartoma or colaboma he wasn't sure what but that he was referring us to a retinal specialist. The retina specialist gave my son an eye exam under anesthesia and took retinal photographs. Since the retina specialist wasn't sure what was in my sons eye he took the photographs to a meeting of retina specialists and showed them to noted opthalmic experts Dr. Jerry and Carol Shields. On the basis of just looking at the retinal photographs they decided that my son had a subretinal hemorrhage and that the lesion was not hamartomatous. We moved from Dallas, Texas to Wichita, Kansas and now to Houston, Texas. My son has had three retina specialists and three pediatric opthamologists. All of the retina specialists went along with the original diagnosis of subretinal hemorrhage. All of the pediatric opthamologists have questioned whether my son has a hamartoma but deferred to the retina specialists opinion. Thankfully, our sons pediatric opthamologist here in Houston said he thought it was a hamartoma and referred my son for an MRI to evaluate for phacomatosis. On review of the MRI it was found that my son had a nerve sheath tumor in his neck that was compressing and displacing his spinal cord. My son had a cervical laminectomy in October to remove the schwannoma in his neck. His neurosurgeon said it was golf ball size and he was also able to get a pea size tumor that they hadn't seen on MRI. The neurosurgeon said he was surprised my son hadn't had more problems caused by the tumor. We do not have a family history of NF2 that we are aware of and are told our son probably has a spontaneous mutation. We took our son to a genetic clinic where he saw a retina specialist and were told that he has a combined hamartoma of the retinal pigment epithelium and retina. He also has white spots or hypopigmented macules on his skin. The geneticist at the genetic clinic told us that my son has presumptive NF2. We also saw a geneticist at a NF clinic and were told my son has definitive NF2. The experience has been difficult in that it is hard to hear your child has a genetic disorder and waiting for doctors appointments and having so many questions. We are so thankful that our sons pediatric opthamolgist referred him for an MRI and we found about the schwannoma in his neck. We wish it hadn't taken six years to get the correct diagnosis on my sons eye. We wonder how badly my son would have been affected before a doctor would have referred my son for an MRI and found out about his tumor. We are not a wait until it's broke and then fix it family. We like to know what is wrong with our son. We are thankful that our son can now be monitored. If he has any more tumors or has vestibular schwannomas occur he will now be followed and we can try to get him the best treatment for him at the right time instead of waiting till the tumors are bad and the outcome is worse. Our geneticists have told us there is a blood test available only at Massachusetts General Hospital that they think he should have. We are looking into that and trying to work with our insurance company to get it done. I am sorry if this letter is too long. I am hoping that more information will become available about NF2 in children and that the outcome for our son will be a good one. Sincerely, Norwood Quote Link to comment Share on other sites More sharing options...
Guest guest Posted November 26, 2000 Report Share Posted November 26, 2000 Sally, As I told Marie my husband goofed and forwarded my e-mail to Mia here. Thanks for everybody's help, though. I'm not sure why it didn't work for me. All I know about the difference between presumptive and definitive NF2 is what I have read on the NF.org website and other websites that show the NIH guidelines. If you go by the guidelines I have read I don't know how the doctor can say my son has definitive NF2. Presumptive or probable is even unclear. Retinal hamartomas aren't even listed as criteria even though I have been told and have read they are common in NF2. Some articles even say they are seen a lot in severe NF2. The retina specialist at the genetic clinic says there is no proof of that. My son doesn't have any VSs that we are aware of yet either. Maybe because he is young and is showing symptoms already is why they are saying he is definitive. I don't know. I need to ask the geneticist at the NF clinic who said it was definitive. We are hoping the doctors are wrong. Only time will tell. You can use the information I post. Just know that I am definitely not a doctor, although it feels like you need to become one just to understand all of this. I could be wrong. Re: Fw: NF2 in Kids > , > > Would you please tell me the difference of presumptive and definitive NF 2? > > << The geneticist at the genetic clinic told us that my son has presumptive > NF2. We also saw a geneticist at a NF clinic and were told my son has > definitive NF2. >> > > I am doing a research article for my Advanced Magazine Writing class and I > wanted to know if it is alright to use your information that you post? > > My name is Sally s and I also have NF 2 I am a journalist trying to > gain exposure for this very secretive hard disease that is difficult to > understand because as you've found there is not much material out there about > it. > > Thanks, Sally > > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted November 27, 2000 Report Share Posted November 27, 2000 Jane, Which lab did you molecular testing? Did they eventually get a result? rosemary. on 27/11/00 4:13 PM, Jane at jdewnf2s@... wrote: - Thank you. Yes, that is what I was told. They look for the mutant gene in chromosome #22. I was told it is a huge chromosome - hard to find. I was a spontaneous mutation. Everything you said is exactly right. If they find the mutant gene in your son then the rest of you can be tested to see if they find it in you. Likewise when he marries and has children. When they drew my blood samples I was told 9 months to a year or longer for the results. Hate to disappoint you there on the time but that is what they told me. It was at least a year if not longer. Good luck. I hope they find his mutant gene. Jane Re: Fw: NF2 in Kids Jane, You may forward my letter if you wish. Re: the blood test, we think my son is a spontaneous mutation, from all that I have read there isn't even a blood test that can tell you if he has NF2 since he doesn't have any relatives with NF2. My sons geneticist are the ones who recommended the blood test. Maybe it is a new one. We have been told that the blood test may come back negative even though he has NF2. If the test comes back positive, though, me, my husband, and other sons could all be tested. It would help too if my son ever decided to get married and have children and they wanted to test his children. Massachusettes General Hospital is the only place that does this particular test. We are told once they got the blood sample it would take six months to complete the test. Wish I knew more. I guess we just have to keep researching. Thanks for the support. Fw: NF2 in Kids Dr. MacCollin, I am writing to you after reading your article about NF2 in Kids in the Late Fall, 1999 Issue of the NF2 Review. We just found out two months ago that our six year old son has NF2 and our local Texas NF Foundation gave us a copy of your article along with some other information about NF2. It's probably too late for our response, but I wanted to respond in hopes that more information will become available about NF2 in children. There is little to no information about NF2 in the medical books we have found. I have found most information regarding NF2 via the internet, but there is very little said about NF2 in regards to children. When our son was six months old his pediatrician noticed exotropia of his left eye. Our son saw a pediatric opthamologist who said he saw something in my sons eye that could be a hamartoma or colaboma he wasn't sure what but that he was referring us to a retinal specialist. The retina specialist gave my son an eye exam under anesthesia and took retinal photographs. Since the retina specialist wasn't sure what was in my sons eye he took the photographs to a meeting of retina specialists and showed them to noted opthalmic experts Dr. Jerry and Carol Shields. On the basis of just looking at the retinal photographs they decided that my son had a subretinal hemorrhage and that the lesion was not hamartomatous. We moved from Dallas, Texas to Wichita, Kansas and now to Houston, Texas. My son has had three retina specialists and three pediatric opthamologists. All of the retina specialists went along with the original diagnosis of subretinal hemorrhage. All of the pediatric opthamologists have questioned whether my son has a hamartoma but deferred to the retina specialists opinion. Thankfully, our sons pediatric opthamologist here in Houston said he thought it was a hamartoma and referred my son for an MRI to evaluate for phacomatosis. On review of the MRI it was found that my son had a nerve sheath tumor in his neck that was compressing and displacing his spinal cord. My son had a cervical laminectomy in October to remove the schwannoma in his neck. His neurosurgeon said it was golf ball size and he was also able to get a pea size tumor that they hadn't seen on MRI. The neurosurgeon said he was surprised my son hadn't had more problems caused by the tumor. We do not have a family history of NF2 that we are aware of and are told our son probably has a spontaneous mutation. We took our son to a genetic clinic where he saw a retina specialist and were told that he has a combined hamartoma of the retinal pigment epithelium and retina. He also has white spots or hypopigmented macules on his skin. The geneticist at the genetic clinic told us that my son has presumptive NF2. We also saw a geneticist at a NF clinic and were told my son has definitive NF2. The experience has been difficult in that it is hard to hear your child has a genetic disorder and waiting for doctors appointments and having so many questions. We are so thankful that our sons pediatric opthamolgist referred him for an MRI and we found about the schwannoma in his neck. We wish it hadn't taken six years to get the correct diagnosis on my sons eye. We wonder how badly my son would have been affected before a doctor would have referred my son for an MRI and found out about his tumor. We are not a wait until it's broke and then fix it family. We like to know what is wrong with our son. We are thankful that our son can now be monitored. If he has any more tumors or has vestibular schwannomas occur he will now be followed and we can try to get him the best treatment for him at the right time instead of waiting till the tumors are bad and the outcome is worse. Our geneticists have told us there is a blood test available only at Massachusetts General Hospital that they think he should have. We are looking into that and trying to work with our insurance company to get it done. I am sorry if this letter is too long. I am hoping that more information will become available about NF2 in children and that the outcome for our son will be a good one. Sincerely, Norwood Quote Link to comment Share on other sites More sharing options...
Guest guest Posted November 27, 2000 Report Share Posted November 27, 2000 Rosemary - The initial blood sample which I believe was the one sent to Massachusetts General it was only the blood sample. A year later I had to go back and give more blood and sign a release to send in some tumor tissue also. But the place it was sent to (I don't know where) stopped doing that kind of research. This is how I understand it. I had not heard of the theory of a mild case. Although I consider myself mild compared to most Crewbies. I don't seem to have as many difficulties. I was just told that #22 is such a big chromosome it is hard to find the mutant gene. I think your survey you sent out is an excellent idea. Jane Re: Fw: NF2 in KidsJane,You may forward my letter if you wish. Re: the blood test, we think my son is a spontaneous mutation, from all that I have read there isn't even a blood test that can tell you if he has NF2 since he doesn't have any relatives with NF2. My sons geneticist are the ones who recommended the blood test. Maybe it is a new one. We have been told that the blood test may come back negative even though he has NF2. If the test comes back positive, though, me, my husband, and other sons could all be tested. It would help too if my son ever decided to get married and have children and they wanted to test his children. Massachusettes General Hospital is the only place that does this particular test. We are told once they got the blood sample it would take six months to complete the test. Wish I knew more. I guess we just have to keep researching. Thanks for the support. Fw: NF2 in KidsDr. MacCollin,I am writing to you after reading your article about NF2 in Kids in the Late Fall, 1999 Issue of the NF2 Review. We just found out two months ago that our six year old son has NF2 and our local Texas NF Foundation gave us a copy of your article along with some other information about NF2. It's probably too late for our response, but I wanted to respond in hopes that more information will become available about NF2 in children. There is little to no information about NF2 in the medical books we have found. I have found most information regarding NF2 via the internet, but there is very little said about NF2 in regards to children. When our son was six months old his pediatrician noticed exotropia of his left eye. Our son saw a pediatric opthamologist who said he saw something in my sons eye that could be a hamartoma or colaboma he wasn't sure what but that he was referring us to a retinal specialist. The retina specialist gave my son an eye exam under anesthesia and took retinal photographs. Since the retina specialist wasn't sure what was in my sons eye he took the photographs to a meeting of retina specialists and showed them to noted opthalmic experts Dr. Jerry and Carol Shields. On the basis of just looking at the retinal photographs they decided that my son had a subretinal hemorrhage and that the lesion was not hamartomatous. We moved from Dallas, Texas to Wichita, Kansas and now to Houston, Texas. My son has had three retina specialists and three pediatric opthamologists. All of the retina specialists went along with the original diagnosis of subretinal hemorrhage. All of the pediatric opthamologists have questioned whether my son has a hamartoma but deferred to the retina specialists opinion. Thankfully, our sons pediatric opthamologist here in Houston said he thought it was a hamartoma and referred my son for an MRI to evaluate for phacomatosis. On review of the MRI it was found that my son had a nerve sheath tumor in his neck that was compressing and displacing his spinal cord. My son had a cervical laminectomy in October to remove the schwannoma in his neck. His neurosurgeon said it was golf ball size and he was also able to get a pea size tumor that they hadn't seen on MRI. The neurosurgeon said he was surpris! ! ed my son hadn't had more problems caused by the tumor. We do not have a family history of NF2 that we are aware of and are told our son probably has a spontaneous mutation. We took our son to a genetic clinic where he saw a retina specialist and were told that he has a combined hamartoma of the retinal pigment epithelium and retina. He also has white spots or hypopigmented macules on his skin. The geneticist at the genetic clinic told us that my son has presumptive NF2. We also saw a geneticist at a NF clinic and were told my son has definitive NF2.The experience has been difficult in that it is hard to hear your child has a genetic disorder and waiting for doctors appointments and having so many questions. We are so thankful that our sons pediatric opthamolgist referred him for an MRI and we found about the schwannoma in his neck. We wish it hadn't taken six years to get the correct diagnosis on my sons eye. We wonder how badly my son would have been affected before a doctor would have referred my son for an MRI and found out about his tumor. We are not a wait until it's broke and then fix it family. We like to know what is wrong with our son. We are thankful that our son can now be monitored. If he has any more tumors or has vestibular schwannomas occur he will now be followed and we can try to get him the best treatment for him at the right time instead of waiting till the tumors are bad and the outcome is worse. Our geneticists have told us there is a blood test available only at Massachusetts General Hospital that they think he should have. We are looking into that and trying to work with our insurance company to get it done. I am sorry if this letter is too long. I am hoping that more information will become available about NF2 in children and that the outcome for our son will be a good one.Sincerely, Norwood Quote Link to comment Share on other sites More sharing options...
Guest guest Posted November 27, 2000 Report Share Posted November 27, 2000 Rosemary - The initial blood sample which I believe was the one sent to Massachusetts General it was only the blood sample. A year later I had to go back and give more blood and sign a release to send in some tumor tissue also. But the place it was sent to (I don't know where) stopped doing that kind of research. This is how I understand it. I had not heard of the theory of a mild case. Although I consider myself mild compared to most Crewbies. I don't seem to have as many difficulties. I was just told that #22 is such a big chromosome it is hard to find the mutant gene. I think your survey you sent out is an excellent idea. Jane Re: Fw: NF2 in KidsJane,You may forward my letter if you wish. Re: the blood test, we think my son is a spontaneous mutation, from all that I have read there isn't even a blood test that can tell you if he has NF2 since he doesn't have any relatives with NF2. My sons geneticist are the ones who recommended the blood test. Maybe it is a new one. We have been told that the blood test may come back negative even though he has NF2. If the test comes back positive, though, me, my husband, and other sons could all be tested. It would help too if my son ever decided to get married and have children and they wanted to test his children. Massachusettes General Hospital is the only place that does this particular test. We are told once they got the blood sample it would take six months to complete the test. Wish I knew more. I guess we just have to keep researching. Thanks for the support. Fw: NF2 in KidsDr. MacCollin,I am writing to you after reading your article about NF2 in Kids in the Late Fall, 1999 Issue of the NF2 Review. We just found out two months ago that our six year old son has NF2 and our local Texas NF Foundation gave us a copy of your article along with some other information about NF2. It's probably too late for our response, but I wanted to respond in hopes that more information will become available about NF2 in children. There is little to no information about NF2 in the medical books we have found. I have found most information regarding NF2 via the internet, but there is very little said about NF2 in regards to children. When our son was six months old his pediatrician noticed exotropia of his left eye. Our son saw a pediatric opthamologist who said he saw something in my sons eye that could be a hamartoma or colaboma he wasn't sure what but that he was referring us to a retinal specialist. The retina specialist gave my son an eye exam under anesthesia and took retinal photographs. Since the retina specialist wasn't sure what was in my sons eye he took the photographs to a meeting of retina specialists and showed them to noted opthalmic experts Dr. Jerry and Carol Shields. On the basis of just looking at the retinal photographs they decided that my son had a subretinal hemorrhage and that the lesion was not hamartomatous. We moved from Dallas, Texas to Wichita, Kansas and now to Houston, Texas. My son has had three retina specialists and three pediatric opthamologists. All of the retina specialists went along with the original diagnosis of subretinal hemorrhage. All of the pediatric opthamologists have questioned whether my son has a hamartoma but deferred to the retina specialists opinion. Thankfully, our sons pediatric opthamologist here in Houston said he thought it was a hamartoma and referred my son for an MRI to evaluate for phacomatosis. On review of the MRI it was found that my son had a nerve sheath tumor in his neck that was compressing and displacing his spinal cord. My son had a cervical laminectomy in October to remove the schwannoma in his neck. His neurosurgeon said it was golf ball size and he was also able to get a pea size tumor that they hadn't seen on MRI. The neurosurgeon said he was surpris! ! ed my son hadn't had more problems caused by the tumor. We do not have a family history of NF2 that we are aware of and are told our son probably has a spontaneous mutation. We took our son to a genetic clinic where he saw a retina specialist and were told that he has a combined hamartoma of the retinal pigment epithelium and retina. He also has white spots or hypopigmented macules on his skin. The geneticist at the genetic clinic told us that my son has presumptive NF2. We also saw a geneticist at a NF clinic and were told my son has definitive NF2.The experience has been difficult in that it is hard to hear your child has a genetic disorder and waiting for doctors appointments and having so many questions. We are so thankful that our sons pediatric opthamolgist referred him for an MRI and we found about the schwannoma in his neck. We wish it hadn't taken six years to get the correct diagnosis on my sons eye. We wonder how badly my son would have been affected before a doctor would have referred my son for an MRI and found out about his tumor. We are not a wait until it's broke and then fix it family. We like to know what is wrong with our son. We are thankful that our son can now be monitored. If he has any more tumors or has vestibular schwannomas occur he will now be followed and we can try to get him the best treatment for him at the right time instead of waiting till the tumors are bad and the outcome is worse. Our geneticists have told us there is a blood test available only at Massachusetts General Hospital that they think he should have. We are looking into that and trying to work with our insurance company to get it done. I am sorry if this letter is too long. I am hoping that more information will become available about NF2 in children and that the outcome for our son will be a good one.Sincerely, Norwood Quote Link to comment Share on other sites More sharing options...
Guest guest Posted November 27, 2000 Report Share Posted November 27, 2000 Rosemary - The initial blood sample which I believe was the one sent to Massachusetts General it was only the blood sample. A year later I had to go back and give more blood and sign a release to send in some tumor tissue also. But the place it was sent to (I don't know where) stopped doing that kind of research. This is how I understand it. I had not heard of the theory of a mild case. Although I consider myself mild compared to most Crewbies. I don't seem to have as many difficulties. I was just told that #22 is such a big chromosome it is hard to find the mutant gene. I think your survey you sent out is an excellent idea. Jane Re: Fw: NF2 in KidsJane,You may forward my letter if you wish. Re: the blood test, we think my son is a spontaneous mutation, from all that I have read there isn't even a blood test that can tell you if he has NF2 since he doesn't have any relatives with NF2. My sons geneticist are the ones who recommended the blood test. Maybe it is a new one. We have been told that the blood test may come back negative even though he has NF2. If the test comes back positive, though, me, my husband, and other sons could all be tested. It would help too if my son ever decided to get married and have children and they wanted to test his children. Massachusettes General Hospital is the only place that does this particular test. We are told once they got the blood sample it would take six months to complete the test. Wish I knew more. I guess we just have to keep researching. Thanks for the support. Fw: NF2 in KidsDr. MacCollin,I am writing to you after reading your article about NF2 in Kids in the Late Fall, 1999 Issue of the NF2 Review. We just found out two months ago that our six year old son has NF2 and our local Texas NF Foundation gave us a copy of your article along with some other information about NF2. It's probably too late for our response, but I wanted to respond in hopes that more information will become available about NF2 in children. There is little to no information about NF2 in the medical books we have found. I have found most information regarding NF2 via the internet, but there is very little said about NF2 in regards to children. When our son was six months old his pediatrician noticed exotropia of his left eye. Our son saw a pediatric opthamologist who said he saw something in my sons eye that could be a hamartoma or colaboma he wasn't sure what but that he was referring us to a retinal specialist. The retina specialist gave my son an eye exam under anesthesia and took retinal photographs. Since the retina specialist wasn't sure what was in my sons eye he took the photographs to a meeting of retina specialists and showed them to noted opthalmic experts Dr. Jerry and Carol Shields. On the basis of just looking at the retinal photographs they decided that my son had a subretinal hemorrhage and that the lesion was not hamartomatous. We moved from Dallas, Texas to Wichita, Kansas and now to Houston, Texas. My son has had three retina specialists and three pediatric opthamologists. All of the retina specialists went along with the original diagnosis of subretinal hemorrhage. All of the pediatric opthamologists have questioned whether my son has a hamartoma but deferred to the retina specialists opinion. Thankfully, our sons pediatric opthamologist here in Houston said he thought it was a hamartoma and referred my son for an MRI to evaluate for phacomatosis. On review of the MRI it was found that my son had a nerve sheath tumor in his neck that was compressing and displacing his spinal cord. My son had a cervical laminectomy in October to remove the schwannoma in his neck. His neurosurgeon said it was golf ball size and he was also able to get a pea size tumor that they hadn't seen on MRI. The neurosurgeon said he was surpris! ! ed my son hadn't had more problems caused by the tumor. We do not have a family history of NF2 that we are aware of and are told our son probably has a spontaneous mutation. We took our son to a genetic clinic where he saw a retina specialist and were told that he has a combined hamartoma of the retinal pigment epithelium and retina. He also has white spots or hypopigmented macules on his skin. The geneticist at the genetic clinic told us that my son has presumptive NF2. We also saw a geneticist at a NF clinic and were told my son has definitive NF2.The experience has been difficult in that it is hard to hear your child has a genetic disorder and waiting for doctors appointments and having so many questions. We are so thankful that our sons pediatric opthamolgist referred him for an MRI and we found about the schwannoma in his neck. We wish it hadn't taken six years to get the correct diagnosis on my sons eye. We wonder how badly my son would have been affected before a doctor would have referred my son for an MRI and found out about his tumor. We are not a wait until it's broke and then fix it family. We like to know what is wrong with our son. We are thankful that our son can now be monitored. If he has any more tumors or has vestibular schwannomas occur he will now be followed and we can try to get him the best treatment for him at the right time instead of waiting till the tumors are bad and the outcome is worse. Our geneticists have told us there is a blood test available only at Massachusetts General Hospital that they think he should have. We are looking into that and trying to work with our insurance company to get it done. I am sorry if this letter is too long. I am hoping that more information will become available about NF2 in children and that the outcome for our son will be a good one.Sincerely, Norwood Quote Link to comment Share on other sites More sharing options...
Guest guest Posted November 27, 2000 Report Share Posted November 27, 2000 Jane, At first we were told we were going to have to send the blood sample to a lab (Athena maybe, I can't remember the name). It was going to cost $2,700 and all they were going to do is send it right to MGH. We were told it would cost $1,800 to do it directly with MGH, but they want the money upfront. That is we are supposed to pay for it and then get reimbursed by our health insurance company. The genetics clinic and health insurance are still trying to work it out two months later. They said maybe we wouldn't have to pay first since they are contracted with our health insurance. I'm not surprised it took you a year to get results. It's a pain dealing with doctor's offices and health insurance companies. They aren't very good about returning calls either. Fw: NF2 in KidsDr. MacCollin,I am writing to you after reading your article about NF2 in Kids in the Late Fall, 1999 Issue of the NF2 Review. We just found out two months ago that our six year old son has NF2 and our local Texas NF Foundation gave us a copy of your article along with some other information about NF2. It's probably too late for our response, but I wanted to respond in hopes that more information will become available about NF2 in children. There is little to no information about NF2 in the medical books we have found. I have found most information regarding NF2 via the internet, but there is very little said about NF2 in regards to children. When our son was six months old his pediatrician noticed exotropia of his left eye. Our son saw a pediatric opthamologist who said he saw something in my sons eye that could be a hamartoma or colaboma he wasn't sure what but that he was referring us to a retinal specialist. The retina specialist gave my son an eye exam under anesthesia and took retinal photographs. Since the retina specialist wasn't sure what was in my sons eye he took the photographs to a meeting of retina specialists and showed them to noted opthalmic experts Dr. Jerry and Carol Shields. On the basis of just looking at the retinal photographs they decided that my son had a subretinal hemorrhage and that the lesion was not hamartomatous. We moved from Dallas, Texas to Wichita, Kansas and now to Houston, Texas. My son has had three retina specialists and three pediatric opthamologists. All of the retina specialists went along with the original diagnosis of subretinal hemorrhage. All of the pediatric opthamologists have questioned whether my son has a hamartoma but deferred to the retina specialists opinion. Thankfully, our sons pediatric opthamologist here in Houston said he thought it was a hamartoma and referred my son for an MRI to evaluate for phacomatosis. On review of the MRI it was found that my son had a nerve sheath tumor in his neck that was compressing and displacing his spinal cord. My son had a cervical laminectomy in October to remove the schwannoma in his neck. His neurosurgeon said it was golf ball size and he was also able to get a pea size tumor that they hadn't seen on MRI. The neurosurgeon said he was surpris! ed my son hadn't had more problems caused by the tumor. We do not have a family history of NF2 that we are aware of and are told our son probably has a spontaneous mutation. We took our son to a genetic clinic where he saw a retina specialist and were told that he has a combined hamartoma of the retinal pigment epithelium and retina. He also has white spots or hypopigmented macules on his skin. The geneticist at the genetic clinic told us that my son has presumptive NF2. We also saw a geneticist at a NF clinic and were told my son has definitive NF2.The experience has been difficult in that it is hard to hear your child has a genetic disorder and waiting for doctors appointments and having so many questions. We are so thankful that our sons pediatric opthamolgist referred him for an MRI and we found about the schwannoma in his neck. We wish it hadn't taken six years to get the correct diagnosis on my sons eye. We wonder how badly my son would have been affected before a doctor would have referred my son for an MRI and found out about his tumor. We are not a wait until it's broke and then fix it family. We like to know what is wrong with our son. We are thankful that our son can now be monitored. If he has any more tumors or has vestibular schwannomas occur he will now be followed and we can try to get him the best treatment for him at the right time instead of waiting till the tumors are bad and the outcome is worse. Our geneticists have told us there is a blood test available only at Massachusetts General Hospital that they think he should have. We are looking into that and trying to work with our insurance company to get it done. I am sorry if this letter is too long. I am hoping that more information will become available about NF2 in children and that the outcome for our son will be a good one.Sincerely, Norwood Quote Link to comment Share on other sites More sharing options...
Guest guest Posted November 27, 2000 Report Share Posted November 27, 2000 Jane, At first we were told we were going to have to send the blood sample to a lab (Athena maybe, I can't remember the name). It was going to cost $2,700 and all they were going to do is send it right to MGH. We were told it would cost $1,800 to do it directly with MGH, but they want the money upfront. That is we are supposed to pay for it and then get reimbursed by our health insurance company. The genetics clinic and health insurance are still trying to work it out two months later. They said maybe we wouldn't have to pay first since they are contracted with our health insurance. I'm not surprised it took you a year to get results. It's a pain dealing with doctor's offices and health insurance companies. They aren't very good about returning calls either. Fw: NF2 in KidsDr. MacCollin,I am writing to you after reading your article about NF2 in Kids in the Late Fall, 1999 Issue of the NF2 Review. We just found out two months ago that our six year old son has NF2 and our local Texas NF Foundation gave us a copy of your article along with some other information about NF2. It's probably too late for our response, but I wanted to respond in hopes that more information will become available about NF2 in children. There is little to no information about NF2 in the medical books we have found. I have found most information regarding NF2 via the internet, but there is very little said about NF2 in regards to children. When our son was six months old his pediatrician noticed exotropia of his left eye. Our son saw a pediatric opthamologist who said he saw something in my sons eye that could be a hamartoma or colaboma he wasn't sure what but that he was referring us to a retinal specialist. The retina specialist gave my son an eye exam under anesthesia and took retinal photographs. Since the retina specialist wasn't sure what was in my sons eye he took the photographs to a meeting of retina specialists and showed them to noted opthalmic experts Dr. Jerry and Carol Shields. On the basis of just looking at the retinal photographs they decided that my son had a subretinal hemorrhage and that the lesion was not hamartomatous. We moved from Dallas, Texas to Wichita, Kansas and now to Houston, Texas. My son has had three retina specialists and three pediatric opthamologists. All of the retina specialists went along with the original diagnosis of subretinal hemorrhage. All of the pediatric opthamologists have questioned whether my son has a hamartoma but deferred to the retina specialists opinion. Thankfully, our sons pediatric opthamologist here in Houston said he thought it was a hamartoma and referred my son for an MRI to evaluate for phacomatosis. On review of the MRI it was found that my son had a nerve sheath tumor in his neck that was compressing and displacing his spinal cord. My son had a cervical laminectomy in October to remove the schwannoma in his neck. His neurosurgeon said it was golf ball size and he was also able to get a pea size tumor that they hadn't seen on MRI. The neurosurgeon said he was surpris! ed my son hadn't had more problems caused by the tumor. We do not have a family history of NF2 that we are aware of and are told our son probably has a spontaneous mutation. We took our son to a genetic clinic where he saw a retina specialist and were told that he has a combined hamartoma of the retinal pigment epithelium and retina. He also has white spots or hypopigmented macules on his skin. The geneticist at the genetic clinic told us that my son has presumptive NF2. We also saw a geneticist at a NF clinic and were told my son has definitive NF2.The experience has been difficult in that it is hard to hear your child has a genetic disorder and waiting for doctors appointments and having so many questions. We are so thankful that our sons pediatric opthamolgist referred him for an MRI and we found about the schwannoma in his neck. We wish it hadn't taken six years to get the correct diagnosis on my sons eye. We wonder how badly my son would have been affected before a doctor would have referred my son for an MRI and found out about his tumor. We are not a wait until it's broke and then fix it family. We like to know what is wrong with our son. We are thankful that our son can now be monitored. If he has any more tumors or has vestibular schwannomas occur he will now be followed and we can try to get him the best treatment for him at the right time instead of waiting till the tumors are bad and the outcome is worse. Our geneticists have told us there is a blood test available only at Massachusetts General Hospital that they think he should have. We are looking into that and trying to work with our insurance company to get it done. I am sorry if this letter is too long. I am hoping that more information will become available about NF2 in children and that the outcome for our son will be a good one.Sincerely, Norwood Quote Link to comment Share on other sites More sharing options...
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