Guest guest Posted January 10, 2006 Report Share Posted January 10, 2006 I hope everyone is having a happy new year. I wanted to let everyone know that I applied (my son) for the NIH study on , which I learned about through this website. I mailed off the information and application the day after Thanksgiving. Can you believe, they already called me! I got a message from Nicki P. on January 9 and we spoke today. She gave me three dates to pick from, one next week, one in Feb. and one in March. I have to see what fits best with our work schedules, plane reservations, etc. Any advice on what we can expect when we get there would be great. Even on where to stay when we go there. I am not at all familiar with the area. (We are in Florida). Thanks. , mom to Jonah with and almost 5 years old. > > > MY DAUGHTER JOSCE HAS BEEN ILL SINCE OCTOBER OF 2005 > > WITH NO DIAGNOSIS > > UNTIL SUNDAY!!! SHE WAS FINALLY DIAGNOSED WITH > > MARSHALL'S SYNDROME > > (). WE WERE GIVEN DIAGNOSIS OF...DIABETES, > > COLITIS, POSS WEST > > NILE VIRUS, PERITONITIS, CANCER, AND THE LIST GOES > > ON AND ON.....AN > > INFECTIOUS DISEASE DR AT LOMA LINDA CHILDRENS > > HOSPITAL FINALLY EXPLORED > > THE DIFF POSSIBILITES AND CAME TO US WITH AN ANSWER. > > IT IS GOOD TO > > FINALLY KNOW WHAT IS WRONG. SO I AM VERY OPEN TO > > ANY INFORMATION > > ANYONE MIGHT HAVE TO HELP US WITH THIS NEW > > DIAGNOSIS!! > > > > > > > > > > > > > > > > > > > __________________________________________ > DSL – Something to write home about. > Just $16.99/mo. or less. > dsl. > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 10, 2006 Report Share Posted January 10, 2006 Amazing. WE have been wiating since JULY and no response. RAmzi father of tamara nchad1967 <nancy.chad@...> wrote: I hope everyone is having a happy new year. I wanted to let everyone know that I applied (my son) for the NIH study on , which I learned about through this website. I mailed off the information and application the day after Thanksgiving. Can you believe, they already called me! I got a message from Nicki P. on January 9 and we spoke today. She gave me three dates to pick from, one next week, one in Feb. and one in March. I have to see what fits best with our work schedules, plane reservations, etc. Any advice on what we can expect when we get there would be great. Even on where to stay when we go there. I am not at all familiar with the area. (We are in Florida). Thanks. , mom to Jonah with and almost 5 years old. > > > MY DAUGHTER JOSCE HAS BEEN ILL SINCE OCTOBER OF 2005 > > WITH NO DIAGNOSIS > > UNTIL SUNDAY!!! SHE WAS FINALLY DIAGNOSED WITH > > MARSHALL'S SYNDROME > > (). WE WERE GIVEN DIAGNOSIS OF...DIABETES, > > COLITIS, POSS WEST > > NILE VIRUS, PERITONITIS, CANCER, AND THE LIST GOES > > ON AND ON.....AN > > INFECTIOUS DISEASE DR AT LOMA LINDA CHILDRENS > > HOSPITAL FINALLY EXPLORED > > THE DIFF POSSIBILITES AND CAME TO US WITH AN ANSWER. > > IT IS GOOD TO > > FINALLY KNOW WHAT IS WRONG. SO I AM VERY OPEN TO > > ANY INFORMATION > > ANYONE MIGHT HAVE TO HELP US WITH THIS NEW > > DIAGNOSIS!! > > > > > > > > > > > > > > > > > > > __________________________________________ > DSL – Something to write home about. > Just $16.99/mo. or less. > dsl. > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 10, 2006 Report Share Posted January 10, 2006 yes amazing.. ramzi.. i would call there .. Re: An Appt. with NIH Amazing. WE have been wiating since JULY and no response. RAmzi father of tamara nchad1967 <nancy.chad@...> wrote: I hope everyone is having a happy new year. I wanted to let everyone know that I applied (my son) for the NIH study on , which I learned about through this website. I mailed off the information and application the day after Thanksgiving. Can you believe, they already called me! I got a message from Nicki P. on January 9 and we spoke today. She gave me three dates to pick from, one next week, one in Feb. and one in March. I have to see what fits best with our work schedules, plane reservations, etc. Any advice on what we can expect when we get there would be great. Even on where to stay when we go there. I am not at all familiar with the area. (We are in Florida). Thanks. , mom to Jonah with and almost 5 years old. > > > MY DAUGHTER JOSCE HAS BEEN ILL SINCE OCTOBER OF 2005 > > WITH NO DIAGNOSIS > > UNTIL SUNDAY!!! SHE WAS FINALLY DIAGNOSED WITH > > MARSHALL'S SYNDROME > > (). WE WERE GIVEN DIAGNOSIS OF...DIABETES, > > COLITIS, POSS WEST > > NILE VIRUS, PERITONITIS, CANCER, AND THE LIST GOES > > ON AND ON.....AN > > INFECTIOUS DISEASE DR AT LOMA LINDA CHILDRENS > > HOSPITAL FINALLY EXPLORED > > THE DIFF POSSIBILITES AND CAME TO US WITH AN ANSWER. > > IT IS GOOD TO > > FINALLY KNOW WHAT IS WRONG. SO I AM VERY OPEN TO > > ANY INFORMATION > > ANYONE MIGHT HAVE TO HELP US WITH THIS NEW > > DIAGNOSIS!! > > > > > > > > > > > > > > > > > > > __________________________________________ > DSL - Something to write home about. > Just $16.99/mo. or less. > dsl. > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 10, 2006 Report Share Posted January 10, 2006 That is really great! I keep thinking about sending in the paperwork, as I have it setting here and just haven't mailed it. My son's doctor already told me he'd send whatever he needs to too ... but I'm sitting on this stuff out of fear of what they may find. Our son has been doing well as of late, as his episodes have been milder ... but the intestinal issues are always more worrisome during the episodes now. It seems some of his symptoms change over time. My husband is also not thrilled about putting Mason through more bloodwork and tests, even if it helps him in the long run. He is really worn out by the last few years and all our son has been through ... so I sit on these papers wondering what I should do. And then I worry that if I do submit them, that I will sit here and wonder whether I did it all for nothing cuz maybe they'll never call ... So I feel very good for you that you got your son in and I wish you the best in finding more answers. Heidi Mommy of Mason, 5 years old, post sigmoid volvulus, 4 intestinal surgeries, , GERD, asthma, chronic constipation and difficulty in gaining weight , 12 years old Amber, 9 years old, asthma, anaphylaxis, and hearing loss and happily married to of 12 years burg, Pennsylvania > > > > > MY DAUGHTER JOSCE HAS BEEN ILL SINCE OCTOBER OF 2005 > > > WITH NO DIAGNOSIS > > > UNTIL SUNDAY!!! SHE WAS FINALLY DIAGNOSED WITH > > > MARSHALL'S SYNDROME > > > (). WE WERE GIVEN DIAGNOSIS OF...DIABETES, > > > COLITIS, POSS WEST > > > NILE VIRUS, PERITONITIS, CANCER, AND THE LIST GOES > > > ON AND ON.....AN > > > INFECTIOUS DISEASE DR AT LOMA LINDA CHILDRENS > > > HOSPITAL FINALLY EXPLORED > > > THE DIFF POSSIBILITES AND CAME TO US WITH AN ANSWER. > > > IT IS GOOD TO > > > FINALLY KNOW WHAT IS WRONG. SO I AM VERY OPEN TO > > > ANY INFORMATION > > > ANYONE MIGHT HAVE TO HELP US WITH THIS NEW > > > DIAGNOSIS!! > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > __________________________________________ > > DSL – Something to write home about. > > Just $16.99/mo. or less. > > dsl. > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 10, 2006 Report Share Posted January 10, 2006 I too have been sitting on my application. I also hesitate putting through more testing. I think has had more blood work in the past two years than I have in my life (and I've even had my fair share) But, I agree, if it helps him in the end, it's all worth it. I also like to think that somewhere down the line it will help other kids - so that they don't have to go through what many of our kids have had to endure. Ellyn Mom of possibly (4), Alyssa(8), and Kate(3) Philadelphia, PA " americangirl_usa1 " <heidikopp@...> Sent by: 01/10/2006 03:42 PM Please respond to cc: Subject: Re: An Appt. with NIH That is really great! I keep thinking about sending in the paperwork, as I have it setting here and just haven't mailed it. My son's doctor already told me he'd send whatever he needs to too ... but I'm sitting on this stuff out of fear of what they may find. Our son has been doing well as of late, as his episodes have been milder ... but the intestinal issues are always more worrisome during the episodes now. It seems some of his symptoms change over time. My husband is also not thrilled about putting Mason through more bloodwork and tests, even if it helps him in the long run. He is really worn out by the last few years and all our son has been through ... so I sit on these papers wondering what I should do. And then I worry that if I do submit them, that I will sit here and wonder whether I did it all for nothing cuz maybe they'll never call ... So I feel very good for you that you got your son in and I wish you the best in finding more answers. Heidi Mommy of Mason, 5 years old, post sigmoid volvulus, 4 intestinal surgeries, , GERD, asthma, chronic constipation and difficulty in gaining weight , 12 years old Amber, 9 years old, asthma, anaphylaxis, and hearing loss and happily married to of 12 years burg, Pennsylvania > > > > > MY DAUGHTER JOSCE HAS BEEN ILL SINCE OCTOBER OF 2005 > > > WITH NO DIAGNOSIS > > > UNTIL SUNDAY!!! SHE WAS FINALLY DIAGNOSED WITH > > > MARSHALL'S SYNDROME > > > (). WE WERE GIVEN DIAGNOSIS OF...DIABETES, > > > COLITIS, POSS WEST > > > NILE VIRUS, PERITONITIS, CANCER, AND THE LIST GOES > > > ON AND ON.....AN > > > INFECTIOUS DISEASE DR AT LOMA LINDA CHILDRENS > > > HOSPITAL FINALLY EXPLORED > > > THE DIFF POSSIBILITES AND CAME TO US WITH AN ANSWER. > > > IT IS GOOD TO > > > FINALLY KNOW WHAT IS WRONG. SO I AM VERY OPEN TO > > > ANY INFORMATION > > > ANYONE MIGHT HAVE TO HELP US WITH THIS NEW > > > DIAGNOSIS!! > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > __________________________________________ > > DSL ? Something to write home about. > > Just $16.99/mo. or less. > > dsl. > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 10, 2006 Report Share Posted January 10, 2006 It is amazing that I heard so quickly. The nurse (Nicki) said I was very lucky to get in - I think she said some people had canceled so they are calling some people who were accepted into the study. I went ahead and took the first available appt. which is on January 24. I figured if I waited to go until February or March, I may loose my nerve to take him. As several people said, I am somewhat afraid to hear what they have to say or what I may find out. But my husband wants to do it and my mom thinks I would be crazy not to participate and have the best doctors see Jonah. Although, he has been doing great and has not had a fever since August 31 (knock on wood). We are flying up on January 23 and coming back in the evening on January 24th. Nicki (nurse) said that the appt. is 2 to 3 hours, so we can fly home that day. I will post a very detailed message when we return and give everyone the low down on our visit. I still can't believe it! , mom to Jonah, almost 5 () Tampa > > > > > > > MY DAUGHTER JOSCE HAS BEEN ILL SINCE OCTOBER OF 2005 > > > > WITH NO DIAGNOSIS > > > > UNTIL SUNDAY!!! SHE WAS FINALLY DIAGNOSED WITH > > > > MARSHALL'S SYNDROME > > > > (). WE WERE GIVEN DIAGNOSIS OF...DIABETES, > > > > COLITIS, POSS WEST > > > > NILE VIRUS, PERITONITIS, CANCER, AND THE LIST GOES > > > > ON AND ON.....AN > > > > INFECTIOUS DISEASE DR AT LOMA LINDA CHILDRENS > > > > HOSPITAL FINALLY EXPLORED > > > > THE DIFF POSSIBILITES AND CAME TO US WITH AN ANSWER. > > > > IT IS GOOD TO > > > > FINALLY KNOW WHAT IS WRONG. SO I AM VERY OPEN TO > > > > ANY INFORMATION > > > > ANYONE MIGHT HAVE TO HELP US WITH THIS NEW > > > > DIAGNOSIS!! > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > __________________________________________ > > > DSL ? Something to write home about. > > > Just $16.99/mo. or less. > > > dsl. > > > > > > > > > > > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 10, 2006 Report Share Posted January 10, 2006 , We have been out to NIh several times and will be returning very 6 months for life. Our next appt is Feb 7th. We live just outside of Boston, MA. Here is what we do: Stay at the Children's INN. It is free It's right on campus at NIH...Almost across street from clinical building! Niki can refer you over to them BUT since your appt is so soon I would email her requesting that she make the " referral " then call the INN yourself and talk to them! THEY ARE VERY NICE!!! On the day of your appt : BE prepared to occupy Jonah and speak to first one doc then SEVERAL!!! at the same time! I was very overwhelmed my first visit. I did not expect to have 8 doc's in the room with us! Bring all charts and paperwork with you! I have Breana's records in a 3 ring binder...sorted by test type: LABS, x-rays/mri's , physicals, sick visit notes, specialist that she has been to ETC! This was a tremendous help because at the time we went to NIH BReana was only 3 and it was just me and her and she was fevering! So it allowed me to just FLIP thru her records to answer some of the many ?'s they asked. There is a shuttle service from NIH to all the local airports....you should check the service before booking your flight if you can and try to coordinate your arrival to within 30-45 minutes of the shuttle arrival. Also we never check a bag since it is only an overnight I bring a back pack! makes it so much easier! The Inn has TONS Of toys and stuff plus a HUGE playroom so toys are not necessary to bring. Breana packs a " plane bag' for herself! There is kitchen at the INN so you can prepare your own food if you want or you can eat at the cafe in the clinical building. I already now in Feb I am just going to toss in some easy Mac for BReana and something for me for supper the night we are there breakfast will be either at the inn(toast) or at the cafe. The Inn does have some food on hand for cooking but it varies greatly!!! Usually stuff like pasta and canned goods. Last time we went we went for a ride to the local grocery store! Here is a link to the Inn's website http://www.childrensinn.org/ Be prepared you will see some amazing families and children whom are dealing with extreme illness! But the overwhelming feeling of help and home and love is amazing!!!!!! Re: An Appt. with NIH It is amazing that I heard so quickly. The nurse (Nicki) said I was very lucky to get in - I think she said some people had canceled so they are calling some people who were accepted into the study. I went ahead and took the first available appt. which is on January 24. I figured if I waited to go until February or March, I may loose my nerve to take him. As several people said, I am somewhat afraid to hear what they have to say or what I may find out. But my husband wants to do it and my mom thinks I would be crazy not to participate and have the best doctors see Jonah. Although, he has been doing great and has not had a fever since August 31 (knock on wood). We are flying up on January 23 and coming back in the evening on January 24th. Nicki (nurse) said that the appt. is 2 to 3 hours, so we can fly home that day. I will post a very detailed message when we return and give everyone the low down on our visit. I still can't believe it! , mom to Jonah, almost 5 () Tampa > > > > > > > MY DAUGHTER JOSCE HAS BEEN ILL SINCE OCTOBER OF 2005 > > > > WITH NO DIAGNOSIS > > > > UNTIL SUNDAY!!! SHE WAS FINALLY DIAGNOSED WITH > > > > MARSHALL'S SYNDROME > > > > (). WE WERE GIVEN DIAGNOSIS OF...DIABETES, > > > > COLITIS, POSS WEST > > > > NILE VIRUS, PERITONITIS, CANCER, AND THE LIST GOES > > > > ON AND ON.....AN > > > > INFECTIOUS DISEASE DR AT LOMA LINDA CHILDRENS > > > > HOSPITAL FINALLY EXPLORED > > > > THE DIFF POSSIBILITES AND CAME TO US WITH AN ANSWER. > > > > IT IS GOOD TO > > > > FINALLY KNOW WHAT IS WRONG. SO I AM VERY OPEN TO > > > > ANY INFORMATION > > > > ANYONE MIGHT HAVE TO HELP US WITH THIS NEW > > > > DIAGNOSIS!! > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > __________________________________________ > > > DSL ? Something to write home about. > > > Just $16.99/mo. or less. > > > dsl. > > > > > > > > > > > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 10, 2006 Report Share Posted January 10, 2006 Americangirl_usa1- Hi my name is Sacora, I don't blame your husband because know wants to find out if there is something wrong especially if it is your child. But let me say I am now 33 years old I have went through a few intestinal sugeries, esophagus sugeries, and have multiple other health issue's. I have been sick all my life and no doctor knew what the problem was some said it was mental, other would say viruses all the time, and the list goes on. I have been through so much. I went back to the NIH and had studies done on FMF,Traps, and hids in 2002 the doctors told me I wouldn't of had to go through all of these sugeries if they would of check into more things. They think I have FMF but it isnt for sure. I take colchine that has helped my fever episodes but I still go through it once in a while. I would take your son, I know it is very scary but believe me you want to know sooner then later, My youngest son has been a very ill child since birth and the doctor have no idea what is going gone with him. We were told it is so we just got his tonsils removed to see if it will help but he has kidney scarring and he builds stones, he has epilepsy, alleries and asthma, he has chronic constipation like how I did growing up, there are so many symtoms that he has that reminds me so much of me growing up. The doctors keep telling me they don't know what is wrong but they won't do certain test that i have asked to see if he has those issue's. I would love to take him to the NIH to be test just cause what i have gone through I would rather know if there something wrong now then if it was to late. I lost a baby cause of all my health issues at 8 months, I have gone through so much and you never want nothing wrong with your kids. Any ways really think about it and do what would be best for your son. Men have a hard time dealing with things no matter what and they see things differently but think of your son and his interest. I wish you all well. Sacora mother of Nicolas 12, chris 15, 16 americangirl_usa1 <heidikopp@...> wrote: That is really great! I keep thinking about sending in the paperwork, as I have it setting here and just haven't mailed it. My son's doctor already told me he'd send whatever he needs to too ... but I'm sitting on this stuff out of fear of what they may find. Our son has been doing well as of late, as his episodes have been milder ... but the intestinal issues are always more worrisome during the episodes now. It seems some of his symptoms change over time. My husband is also not thrilled about putting Mason through more bloodwork and tests, even if it helps him in the long run. He is really worn out by the last few years and all our son has been through ... so I sit on these papers wondering what I should do. And then I worry that if I do submit them, that I will sit here and wonder whether I did it all for nothing cuz maybe they'll never call ... So I feel very good for you that you got your son in and I wish you the best in finding more answers. Heidi Mommy of Mason, 5 years old, post sigmoid volvulus, 4 intestinal surgeries, , GERD, asthma, chronic constipation and difficulty in gaining weight , 12 years old Amber, 9 years old, asthma, anaphylaxis, and hearing loss and happily married to of 12 years burg, Pennsylvania > > > > > MY DAUGHTER JOSCE HAS BEEN ILL SINCE OCTOBER OF 2005 > > > WITH NO DIAGNOSIS > > > UNTIL SUNDAY!!! SHE WAS FINALLY DIAGNOSED WITH > > > MARSHALL'S SYNDROME > > > (). WE WERE GIVEN DIAGNOSIS OF...DIABETES, > > > COLITIS, POSS WEST > > > NILE VIRUS, PERITONITIS, CANCER, AND THE LIST GOES > > > ON AND ON.....AN > > > INFECTIOUS DISEASE DR AT LOMA LINDA CHILDRENS > > > HOSPITAL FINALLY EXPLORED > > > THE DIFF POSSIBILITES AND CAME TO US WITH AN ANSWER. > > > IT IS GOOD TO > > > FINALLY KNOW WHAT IS WRONG. SO I AM VERY OPEN TO > > > ANY INFORMATION > > > ANYONE MIGHT HAVE TO HELP US WITH THIS NEW > > > DIAGNOSIS!! > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > __________________________________________ > > DSL – Something to write home about. > > Just $16.99/mo. or less. > > dsl. > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 10, 2006 Report Share Posted January 10, 2006 : My husband and I just read the information in your post. Thank you so much. You have no idea how much it means to us that you have taken your time to give us this information. I will write about our visit the day after we return and fill everyone in on what we find out. Thanks to everyone who responded and is so supportive. in Tampa. > > > > > > > > > MY DAUGHTER JOSCE HAS BEEN ILL SINCE OCTOBER OF 2005 > > > > > WITH NO DIAGNOSIS > > > > > UNTIL SUNDAY!!! SHE WAS FINALLY DIAGNOSED WITH > > > > > MARSHALL'S SYNDROME > > > > > (). WE WERE GIVEN DIAGNOSIS OF...DIABETES, > > > > > COLITIS, POSS WEST > > > > > NILE VIRUS, PERITONITIS, CANCER, AND THE LIST GOES > > > > > ON AND ON.....AN > > > > > INFECTIOUS DISEASE DR AT LOMA LINDA CHILDRENS > > > > > HOSPITAL FINALLY EXPLORED > > > > > THE DIFF POSSIBILITES AND CAME TO US WITH AN ANSWER. > > > > > IT IS GOOD TO > > > > > FINALLY KNOW WHAT IS WRONG. SO I AM VERY OPEN TO > > > > > ANY INFORMATION > > > > > ANYONE MIGHT HAVE TO HELP US WITH THIS NEW > > > > > DIAGNOSIS!! > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > __________________________________________ > > > > DSL ? Something to write home about. > > > > Just $16.99/mo. or less. > > > > dsl. > > > > > > > > > > > > > > > > > > > > > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 10, 2006 Report Share Posted January 10, 2006 Hi - I just want to second everything said. We were just there in November for our first visit. The Children's Inn is definitely the best place to stay - right across the street from the clinical center, lots of things for the kids to do, very helpful staff. There is a kitchen there to make food or you can have food delivered from various pizza places, etc. You will get a packet of information in the mail from NIH which will give more details regarding the trip - like the schedule for the shuttle from the airport, where to go and what time to be there, etc. For us, my daughter couldn't eat past midnight the night before for the blood work they wanted to do (not an easy task with a 2 year old, but we managed). This information was all in the packet we received after we set up the appointment. About the appointment itself, is right - definitely bring a binder with all the information you can get together, including lab work and a calendar detailing all the fevers, how often, how high, other symptoms, etc. This was very helpful in answering their questions. First you meet with the fellow, who asks lots of questions, then you meet with the whole team, which includes Dr. Kastner, who will then ask more questions. You will also have the opportunity to ask questions - So write them down!!! By this point my daughter was pretty fed up - wanted out of the tiny room and was starving, plus we had woken her up really early and we had a 3 hour time difference. One thing to keep in mind is that you may not get a diagnosis. We went in with all the information we had (which included the genetic test results which were already done through GeneDx) and all we came away with was that we have to wait and see - which is the same thing our doctors here said. But my daughter's symptoms are very non- specific as everyone says - she only has fevers, no other symptoms. And they have been continually improving so everyone (including Dr. Kastner) says it may be something that is working its way through her body - we are hoping they are right. But all that being said, the trip was definitely still worth it. He did give us more information regarding the one gene mutation for FMF that they found and also said that if her symptoms continue or worsen, to contact them and we will see where to go from there. So I would highly recommend it to everyone in this situation. We were scared too about what they would find and we were frustrated that we still didn't have an answer, but somehow I feel more at peace and in control knowing that I have tried everything and taken her to the most knowledgable doctor (about periodic fever syndromes) in the country. Hope that is helpful. Good luck and definitely keep us updated. am (mom to Layla, 2.5 years old, undiagnosed periodic fever syndrome and Dariush, 4 months, healthy so far > > > > > > > > > MY DAUGHTER JOSCE HAS BEEN ILL SINCE OCTOBER OF 2005 > > > > > WITH NO DIAGNOSIS > > > > > UNTIL SUNDAY!!! SHE WAS FINALLY DIAGNOSED WITH > > > > > MARSHALL'S SYNDROME > > > > > (). WE WERE GIVEN DIAGNOSIS OF...DIABETES, > > > > > COLITIS, POSS WEST > > > > > NILE VIRUS, PERITONITIS, CANCER, AND THE LIST GOES > > > > > ON AND ON.....AN > > > > > INFECTIOUS DISEASE DR AT LOMA LINDA CHILDRENS > > > > > HOSPITAL FINALLY EXPLORED > > > > > THE DIFF POSSIBILITES AND CAME TO US WITH AN ANSWER. > > > > > IT IS GOOD TO > > > > > FINALLY KNOW WHAT IS WRONG. SO I AM VERY OPEN TO > > > > > ANY INFORMATION > > > > > ANYONE MIGHT HAVE TO HELP US WITH THIS NEW > > > > > DIAGNOSIS!! > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > __________________________________________ > > > > DSL ? Something to write home about. > > > > Just $16.99/mo. or less. > > > > dsl. > > > > > > > > > > > > > > > > > > > > > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 11, 2006 Report Share Posted January 11, 2006 , That is great that you already got called back. We submitted the application in October and haven't heard a word. What type of information did you submit?? I've asked our Ped as well as our ID doc to send some of Jarrod's records (as the e-mail requests), but I am not sure they have done this. I guess I will have to follow up. Just wondering if you had your son's docs submit stuff as well. Jarrod has finally been approved by our insurance company for 2 out of 3 genetic tests our ID doc wants. It was a battle, but finally the ball is rolling. Jarrod has started exhibiting some other symptoms that don't necessarily correlate with our initial diagnosis. His fevers also (the last 2 months) have come every two weeks and he has added some either muscle or joint pain. It is just a frustrating little condition...everytime we get our finger on it, it changes it's presentation. Oh, we live in Florida as well. Do you go to All Children's?? Blessings, (SWFL) Mother of Jarrod (3) On Wed, 11 Jan 2006 03:43:38 -0000 " nchad1967 " <nancy.chad@...> writes: : My husband and I just read the information in your post. Thank you so much. You have no idea how much it means to us that you have taken your time to give us this information. I will write about our visit the day after we return and fill everyone in on what we find out. Thanks to everyone who responded and is so supportive. in Tampa. > > > > > > > > > MY DAUGHTER JOSCE HAS BEEN ILL SINCE OCTOBER OF 2005 > > > > > WITH NO DIAGNOSIS > > > > > UNTIL SUNDAY!!! SHE WAS FINALLY DIAGNOSED WITH > > > > > MARSHALL'S SYNDROME > > > > > (). WE WERE GIVEN DIAGNOSIS OF...DIABETES, > > > > > COLITIS, POSS WEST > > > > > NILE VIRUS, PERITONITIS, CANCER, AND THE LIST GOES > > > > > ON AND ON.....AN > > > > > INFECTIOUS DISEASE DR AT LOMA LINDA CHILDRENS > > > > > HOSPITAL FINALLY EXPLORED > > > > > THE DIFF POSSIBILITES AND CAME TO US WITH AN ANSWER. > > > > > IT IS GOOD TO > > > > > FINALLY KNOW WHAT IS WRONG. SO I AM VERY OPEN TO > > > > > ANY INFORMATION > > > > > ANYONE MIGHT HAVE TO HELP US WITH THIS NEW > > > > > DIAGNOSIS!! > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > __________________________________________ > > > > DSL ? Something to write home about. > > > > Just $16.99/mo. or less. > > > > dsl. > > > > > > > > > > > > > > > > > > > > > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 11, 2006 Report Share Posted January 11, 2006 >>>What type of information did you submit?? I've asked our Ped as well as our ID doc to send some of Jarrod's records (as the e-mail requests), but I am not sure they have done this. I guess I will have to follow up.>>> Absolutely... You need to follow up on the status of medical information from your primary docs. They also should submit a letter summarizing the child's fevers etc... and any pertinent lab data. We got in within 4 months of calling. Not so bad. The info was sent initially to Janet and then Bev took over... and even with the change of the guards... once the info was received by Bev... she offered us a visit within a month. If all you have done is call and you have not checked to see if the medical info was sent you really are not waiting... Many doctors offices are negligent on getting the info and letter out. I had all of ph's medical records. I ALWAYS made sure I received copies of pertinent lab work and kept a huge binder. I also kept copies of all consultation letters the pediatrician and Immunologist sent to each other. As a courtesy the docs always forwarded a copy to me. I gathered these letters and just a sample of abnormal studies for NIH and submitted them myself. The letters between the docs were so detailed NIH did not wait for a specific letter referral because the documentation from doc to doc specified he definitely had one of the periodic fever syndromes. Without that type of info... be it from you or from the doc... the NIH has no real documentation that the child suffers from some sort of fever disorder. Hope that helps. Fran Fran A Bulone Mom to ph 6 yrs old Waxhaw, NC Owner & Moderator Group Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 11, 2006 Report Share Posted January 11, 2006 : Thank you for responding (and to everyone else who has responded and I did not specifically respond back to). I did not let my doctor send things directly to the NIH. I requested that they send me the information and I sent everything in together. As it was, my doctor (regular pedi) took about 6 or so weeks to get me the information. (I had to call several times to ask them the status). I did go to Dumois at All Children's Hospital (office in Tampa and in downtown St. Pete) a few times, but he didn't perform any tests - my pedi had done all the testing, so I did not include any records from Dr. Dumois. I hope this answers your questions. in Tampa > > > > > > > > > > > MY DAUGHTER JOSCE HAS BEEN ILL SINCE OCTOBER OF 2005 > > > > > > WITH NO DIAGNOSIS > > > > > > UNTIL SUNDAY!!! SHE WAS FINALLY DIAGNOSED WITH > > > > > > MARSHALL'S SYNDROME > > > > > > (). WE WERE GIVEN DIAGNOSIS OF...DIABETES, > > > > > > COLITIS, POSS WEST > > > > > > NILE VIRUS, PERITONITIS, CANCER, AND THE LIST GOES > > > > > > ON AND ON.....AN > > > > > > INFECTIOUS DISEASE DR AT LOMA LINDA CHILDRENS > > > > > > HOSPITAL FINALLY EXPLORED > > > > > > THE DIFF POSSIBILITES AND CAME TO US WITH AN ANSWER. > > > > > > IT IS GOOD TO > > > > > > FINALLY KNOW WHAT IS WRONG. SO I AM VERY OPEN TO > > > > > > ANY INFORMATION > > > > > > ANYONE MIGHT HAVE TO HELP US WITH THIS NEW > > > > > > DIAGNOSIS!! > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > __________________________________________ > > > > > DSL ? Something to write home about. > > > > > Just $16.99/mo. or less. > > > > > dsl. > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 11, 2006 Report Share Posted January 11, 2006 Fran, So I can submit the copies of the medical records I have?? We got copies of all Jarrod's labs and some of his files when we went to the ID doc. I didn't realize I could submit those...I thought it had to be directly from the docs office. Any input would help!! Thanks! (mother of Jarrod) On Wed, 11 Jan 2006 14:33:50 -0500 " Fran Bulone " <fbulone@...> writes: >>>What type of information did you submit?? I've asked our Ped as well as our ID doc to send some of Jarrod's records (as the e-mail requests), but I am not sure they have done this. I guess I will have to follow up.>>> Absolutely... You need to follow up on the status of medical information from your primary docs. They also should submit a letter summarizing the child's fevers etc... and any pertinent lab data. We got in within 4 months of calling. Not so bad. The info was sent initially to Janet and then Bev took over... and even with the change of the guards... once the info was received by Bev... she offered us a visit within a month. If all you have done is call and you have not checked to see if the medical info was sent you really are not waiting... Many doctors offices are negligent on getting the info and letter out. I had all of ph's medical records. I ALWAYS made sure I received copies of pertinent lab work and kept a huge binder. I also kept copies of all consultation letters the pediatrician and Immunologist sent to each other. As a courtesy the docs always forwarded a copy to me. I gathered these letters and just a sample of abnormal studies for NIH and submitted them myself. The letters between the docs were so detailed NIH did not wait for a specific letter referral because the documentation from doc to doc specified he definitely had one of the periodic fever syndromes. Without that type of info... be it from you or from the doc... the NIH has no real documentation that the child suffers from some sort of fever disorder. Hope that helps. Fran Fran A Bulone Mom to ph 6 yrs old Waxhaw, NC Owner & Moderator Group Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 11, 2006 Report Share Posted January 11, 2006 , Thanks for your reply. Jarrod sees an associate of Dr. Dumois, Dr. Berman. I have asked his office to send records because we have had to go back to him due to odd symptoms developing. He also is the one who ordered the genetic testing for my son (which we finally got approved). I asked Jarrod's ped office to fax/send info that I submitted in writing on Oct 31, but I have a feeling they never sent it. As I posted to Fran, I have some of Jarrod's early records that I can fax, so I will do that ASAP. Thank you for all the help!! On Thu, 12 Jan 2006 01:01:22 -0000 " nchad1967 " <nancy.chad@...> writes: : Thank you for responding (and to everyone else who has responded and I did not specifically respond back to). I did not let my doctor send things directly to the NIH. I requested that they send me the information and I sent everything in together. As it was, my doctor (regular pedi) took about 6 or so weeks to get me the information. (I had to call several times to ask them the status). I did go to Dumois at All Children's Hospital (office in Tampa and in downtown St. Pete) a few times, but he didn't perform any tests - my pedi had done all the testing, so I did not include any records from Dr. Dumois. I hope this answers your questions. in Tampa > > > > > > > > > > > MY DAUGHTER JOSCE HAS BEEN ILL SINCE OCTOBER OF 2005 > > > > > > WITH NO DIAGNOSIS > > > > > > UNTIL SUNDAY!!! SHE WAS FINALLY DIAGNOSED WITH > > > > > > MARSHALL'S SYNDROME > > > > > > (). WE WERE GIVEN DIAGNOSIS OF...DIABETES, > > > > > > COLITIS, POSS WEST > > > > > > NILE VIRUS, PERITONITIS, CANCER, AND THE LIST GOES > > > > > > ON AND ON.....AN > > > > > > INFECTIOUS DISEASE DR AT LOMA LINDA CHILDRENS > > > > > > HOSPITAL FINALLY EXPLORED > > > > > > THE DIFF POSSIBILITES AND CAME TO US WITH AN ANSWER. > > > > > > IT IS GOOD TO > > > > > > FINALLY KNOW WHAT IS WRONG. SO I AM VERY OPEN TO > > > > > > ANY INFORMATION > > > > > > ANYONE MIGHT HAVE TO HELP US WITH THIS NEW > > > > > > DIAGNOSIS!! > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > __________________________________________ > > > > > DSL ? Something to write home about. > > > > > Just $16.99/mo. or less. > > > > > dsl. > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 11, 2006 Report Share Posted January 11, 2006 If the records are pertinent yes send them. I faxed the one's I determined important... Also if you have any letters... send too. Hope that helps. Fran PS.... try and keep copies of all medical records. It helps along the road to a diagnosis. Fran, So I can submit the copies of the medical records I have?? We got copies of all Jarrod's labs and some of his files when we went to the ID doc. I didn't realize I could submit those...I thought it had to be directly from the docs office. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 11, 2006 Report Share Posted January 11, 2006 : I find it interesting that Dr. Berman, who apparently works with Dr. Dumois wanted (and helped you get approved) genetic testing. I say that is intersting because Dr. Dumois felt that my son (Jonah) did not need any testing - he was so sure it is based upon symptoms, which have been consistent over the past 4 years - fever, swollen lymphnodes in neck, pharangitis (red throat) and the occasional canker sore while fevering - no other symptoms at all. He said he fits perfectly - text book. Also my son's fever disappears within 1 hour of a dose (less than a tsp) of Orapred. So he felt this was it - hands down. I would have preferred to have testing to rule out other things definitely. But as time has passed the fevers did not get as high and got further apart and now it has been 18 weeks since we have had a fever (knock on wood, I am so afraid to jinx it). So with all of this, Dr. Dumois never felt it was unnecessary. You are lucky Dr. Berman helped you get that approved. But I can't say I fought for it. I am hoping to get genetic testing done at NIH, but I know this will not happen on the first visit. Who knows, they may hear Jonah hasn't had a fever in four and a half months and send me packing! Thanks again. in Tampa (mom to Jonah, five very very soon) > > > > > > > > > > > > > MY DAUGHTER JOSCE HAS BEEN ILL SINCE OCTOBER OF 2005 > > > > > > > WITH NO DIAGNOSIS > > > > > > > UNTIL SUNDAY!!! SHE WAS FINALLY DIAGNOSED WITH > > > > > > > MARSHALL'S SYNDROME > > > > > > > (). WE WERE GIVEN DIAGNOSIS OF...DIABETES, > > > > > > > COLITIS, POSS WEST > > > > > > > NILE VIRUS, PERITONITIS, CANCER, AND THE LIST GOES > > > > > > > ON AND ON.....AN > > > > > > > INFECTIOUS DISEASE DR AT LOMA LINDA CHILDRENS > > > > > > > HOSPITAL FINALLY EXPLORED > > > > > > > THE DIFF POSSIBILITES AND CAME TO US WITH AN ANSWER. > > > > > > > IT IS GOOD TO > > > > > > > FINALLY KNOW WHAT IS WRONG. SO I AM VERY OPEN TO > > > > > > > ANY INFORMATION > > > > > > > ANYONE MIGHT HAVE TO HELP US WITH THIS NEW > > > > > > > DIAGNOSIS!! > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > __________________________________________ > > > > > > DSL ? Something to write home about. > > > > > > Just $16.99/mo. or less. > > > > > > dsl. > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 12, 2006 Report Share Posted January 12, 2006 , The reason Dr. Berman mentioned the study to us is we think the diagnosis may not apply to Jarrod. His fevers are getting closer together and more severe. He also is developing more symptoms - joint/muscle pain and such. The Prednisone used to work for us, but several months ago (1) dose was no longer enough. The last 2 months the fevers returned in a very short period of time. That is why I am pursuing the NIH route. I was perfectly fine with the diagnosis until this other stuff started happening. The new symptoms are also the reason why our insurance has finally agreed to the 2 genetic tests that they will cover. Again, I wish you luck up there and please post with the end result!! (Mother of Jarrod) On Thu, 12 Jan 2006 02:21:51 -0000 " nchad1967 " <nancy.chad@...> writes: : I find it interesting that Dr. Berman, who apparently works with Dr. Dumois wanted (and helped you get approved) genetic testing. I say that is intersting because Dr. Dumois felt that my son (Jonah) did not need any testing - he was so sure it is based upon symptoms, which have been consistent over the past 4 years - fever, swollen lymphnodes in neck, pharangitis (red throat) and the occasional canker sore while fevering - no other symptoms at all. He said he fits perfectly - text book. Also my son's fever disappears within 1 hour of a dose (less than a tsp) of Orapred. So he felt this was it - hands down. I would have preferred to have testing to rule out other things definitely. But as time has passed the fevers did not get as high and got further apart and now it has been 18 weeks since we have had a fever (knock on wood, I am so afraid to jinx it). So with all of this, Dr. Dumois never felt it was unnecessary. You are lucky Dr. Berman helped you get that approved. But I can't say I fought for it. I am hoping to get genetic testing done at NIH, but I know this will not happen on the first visit. Who knows, they may hear Jonah hasn't had a fever in four and a half months and send me packing! Thanks again. in Tampa (mom to Jonah, five very very soon) > > > > > > > > > > > > > MY DAUGHTER JOSCE HAS BEEN ILL SINCE OCTOBER OF 2005 > > > > > > > WITH NO DIAGNOSIS > > > > > > > UNTIL SUNDAY!!! SHE WAS FINALLY DIAGNOSED WITH > > > > > > > MARSHALL'S SYNDROME > > > > > > > (). WE WERE GIVEN DIAGNOSIS OF...DIABETES, > > > > > > > COLITIS, POSS WEST > > > > > > > NILE VIRUS, PERITONITIS, CANCER, AND THE LIST GOES > > > > > > > ON AND ON.....AN > > > > > > > INFECTIOUS DISEASE DR AT LOMA LINDA CHILDRENS > > > > > > > HOSPITAL FINALLY EXPLORED > > > > > > > THE DIFF POSSIBILITES AND CAME TO US WITH AN ANSWER. > > > > > > > IT IS GOOD TO > > > > > > > FINALLY KNOW WHAT IS WRONG. SO I AM VERY OPEN TO > > > > > > > ANY INFORMATION > > > > > > > ANYONE MIGHT HAVE TO HELP US WITH THIS NEW > > > > > > > DIAGNOSIS!! > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > __________________________________________ > > > > > > DSL ? Something to write home about. > > > > > > Just $16.99/mo. or less. > > > > > > dsl. > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 12, 2006 Report Share Posted January 12, 2006 Fran, Thanks, any information on how to speed up the process is helpful. The ID office called me this morning to let me know they are faxing Jarrod's records that they have today. I will fax the rest of the info from our local ped today as well!! In the meantime, we are going to take Jarrod up to All Children's to have their lab do the genetic testing. We only have one shot at the free testing, so I want to make sure it is done right. Thanks again! (Mother of Jarrod) On Wed, 11 Jan 2006 20:58:43 -0500 " Fran Bulone " <fbulone@...> writes: If the records are pertinent yes send them. I faxed the one's I determined important... Also if you have any letters... send too. Hope that helps. Fran PS.... try and keep copies of all medical records. It helps along the road to a diagnosis. Fran, So I can submit the copies of the medical records I have?? We got copies of all Jarrod's labs and some of his files when we went to the ID doc. I didn't realize I could submit those...I thought it had to be directly from the docs office. Quote Link to comment Share on other sites More sharing options...
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