1. Have you been given a diagnosis?
2. Look at the palms of your hands, do they have little holes in them - kind of like little pin prick holes?
3. Is the frontal lobe of your head enlarged - did your mother ever mention doctors being worried about your head?
4. Did you ever have a jaw cyst in your teenage years?
5. Have you had basal cell skin cancer?
6. Do you or your parents come from a mining or a chemical plant area?
7. Do you sometimes suffer from protusions in your spine?
8. Has anyone in your immediate family had Kidney, Liver, Ovarian cancer?
9. Do you have grooves in your teeth - if you are female do you ever have to rub off the lipstick off your teeth?
I just thought of something else! When you were younger, did you have problems walking long distances - like VERY sore feet or cracking bones? Did you have other bone ailments?
They are waiting for provincial funding to send me out of country for a VERY specialized test! That - from what I understand - will be either in Australia, Norway, England, Nigeria, OR perhaps Florida - where they have just started doing this test! I am NOT allowed to have ANY radiation whatsover! And my sons are also being investigated for this! As my eldest has a fusion - Pretty sure it is C3-4, and my youngest was born with club feet, enlarged frontal lobe, and lots of other problems that they couldn't put their finger on! They actually think that we might have are own syndrome - as they have punched in our symptoms and no where in the genetic data bank does it show similar conditions! That is why I was asking if you have been seen by a genetesist? IF you haven't I would DEFINITELY advise this, as they would know more than anyone and can punch in your problems and hopefully come up with something!
All that was said to me is now a bit of a blur, so bare with me on this! I seem to remember that my Gene 9 - or 99, is defective! BUT they need this specialized test to see if it's this actual gene OR the genes around it that are causing this problem! Once they have me figured out then they can assume my children have it too! The weird thing about my family is that we are ALL different symptoms! Which in a family is NEVER heard of! We have even been studied by a panel of doctors that flew in to meet myself and my 2 boys!! They are astounded about us! Because NOTHING fits! We show 2 syndromes and they aren't even in the same ball park with each other - which is supposed to be impossible! I felt like the Elephant Man with all of these doctors from ALL over asking us questions! It is interesting BUT yet upsetting, thinking they do not know what is going on with me! I have NOT had surgery! As I have been told that this could paralyze me, so I have left it!
Does anyone else in your family suffer from bone ailments!? Have they talked about decapitation surgery? I know that sounds TERRIBLE! But a lady I know and another I don't - just through the news - had this surgery, and then they place your head back in the correct position and realign your body, and fix the problem! They both live a normal healthy life now! It DEIFNITELY sounds like you are need of the surgery! And I think this is why it took you so long to get someone - as some don't believe in operating! Think back, do you think you were better before surgery or after? That is what a lot of doctors and specialists are now looking at! And your spinal column is the MAIN guy with ALL of your nerves in it's hands!
Have you ever done a family tree of your families health ailments? That is what a genetisist does and then starts connecting the dots! And how about your children, anything "wonky" with them
Due to the various ailments, and dislocations, they have talked about freezing my spine! BUT they have stated that this is "IFFY" And because they don't know what is going on yet, can't really get a handle on dealing with my condition!
I know that with ALL you have been through and going through - a HUGE hug! - then you are less likely to seek out other opinions! BUT I think it would be a great idea to see a genetisist!
I have been researching for myself and others for a long time, but I found something I want you to look at
1. Pott's Disease
Do your children have ANYTHING going on!
What in the hell does freezing your spine mean? I have never heard of this. Is this a neurosurgeon or an orthopedic doctor wanting to do this? Please let me know. All the articles I looked at last night were very informative. Bambi, they have a new way to treat the fusion on the base of your skull now. It is a clamp of some sort invented by a doctor at the University of Utah, I think I told you I am living in rural Utah right now. It was made by Morton-Thyakol- they make jet and rocket parts, but the doc took his plans to them and they built this clamp. It is what they use now instead of the drilling of holes and wires like they used on me. I hope if you ever get to the point that I was at, where surgery was not elective but necessary to keep me walking that you will consider that option. I'm not pushing surgery but you have gotten a lot of years out of your disability. Are you able to work? If so, what do you do? If you ever consider SSD I can recommend a great book that will walk you through the whole process. I was lucky enough that the school district had LTD insurance and they provided me with a lawyer and payments until I was qualified for SSD. So now I get a payment from SSD and the LTD insurance from the district, which makes up 2/3rds of my ending salary as a teacher. I would be happy to help you if you ever need to apply for SSD. There are some very specific things they look for and I know what they are. I will be happy to help you as much as I can. If you ever consider a trip to Utah for help, I am here. STay in touch. kjbe
You know what I find amazing about science? There is yourself who is in a desperate situation, your one of 100's of millions of Americans, and thousands of doctors, and the 1 that has created a device to help you lives in the same state and is more accessible to you than any other person! Strange isn't it? Like it is meant to be! Just like when I met a different surgeon last year, I was supposed to have surgery with my regular guy and he couldn't fit me in! so I was put with a stranger, a stranger that ended up connecting ALL the dots for me! Sometimes it's a great hing to have a different set of eyes on your case!
2 of the symptoms of my syndrome - Gorlins - is Brain Cancer, and Heart Failure!! BUT when you have a "syndrome" it means several things together!
I KNOW I have heard of your symptoms before, and I was really going with AS, but when I saw the other 2 I started leaning that way!
just in case we get disconnected here for some reason. I have been given 3 outcomes from my surgeries, 1. you will die, 2. you will wake up and be paralyzed from the neck down, or 3. you will be just fine. Those are not great odds, but all surgeries were necessary. I sense that my pain must be even worse than yours because I made the decision with my family that I would have the surgeries because it was my only shot at relieving some of the pain. The freezing technique sounds like something I have never heard of. No doctor has never said anything about that procedure to me, ever. Talk about karma or coincidences about doctors, you will not believe my story from Denver all the way to Utah. At every junction I had someone who knew someone that I had been to. For starters, my doctor in Denver ( Dr. B. Goldberg)was 1 of 2 doctors that had seen this according to him. If I didn't do the surgery in Denver then I had to go to New York City. Obviously, that was not an option for my husband and me. Anyway, he did the first fusion. then I movedto Utah. After years of suffering I went to the local orthopedic doctor as a place to start, as my doc in Denver had died. The doctor here ( Dr. T. Hawkes) that I went to looked at my x-rays and saw the tying of the wire. He said, "Bertram Goldberg of Denver did this didn't he." Knocked me over. I asked how he knew-he had done his orthopedic internship with my doctor in Denver, in the late 70's. Wow!! Then the new doctor (Dr. M. Reichman) I finally decided on in SLC (Salt LakeCity) turned out to be my husbands(engineer) partner at work who was a roommate of my new neurosurgeon that has done the last 2 surgeries. They were roomies for 4 yrs. at BYU and were great friends. We did not discuss any of this with my husband's partner and we knew nothing of their connection until my husband explained why he would miss work. He told us to tell Mark, his fishing buddy, that he said hello. He knew immediately who we were talking about. He kind of came down off his throne when he knew we were good friends with his former rooommate. Then when I woke up from 1 surgery in SLC, the doctor they had tending me in the recovery room was my doctor here, the orthopedic doctor( Dr. T. Hawkes) that told me I must have surgery, well, it was his son, taking care of me post operative. Now does that blow your mind. I am agnostic, but this situation has made some kind of believer out of me. It was all just too coincidental that these people were all intertwined and connected in some way. Do your doctors reccomend that you keep your activity level low and not take any chances of falling? This is still amazing to me that I found someone. We have lived in Utah for 26 yrs. and are not Mormon. It is like a country of its own. I can't wait to move, but I fear trying to find a doctor to take mines place. Have you had any TMJ problems? How about yor eyes-does your vision change much? I have tried acupuncture, massage, rolfing, yoga, stretching, you name it I've tried it in an effort to relieve pain. It cost me my career, etc. Glad to hear you are on SSD. You deserve it. What was your career prior? Are you married? I am so lucky to have a husband that has stuck with me through thick and thin. He has been wonderfu and taken great care of me all these years. It is hard on him, I know, but he never complains or gets tired of me being so tired and unable to be the person he married 36 yrs. ago. Again I've suffered with this for 31 yrs. I know I am writing alot but I am just so stunned to finally find someone to compare notes with and who does understand. Don't know you, but I love you for reaching out to me. Stay in touch. I see my doc. Aug. 16th for either okay news or bad news. We live 3 1/2 hrs. from the city so everything we do is a big deal. WE have to stay in hotels, my husband loses work when he goes with me, and he does everytime I have an appt. in SLC. My son understands to. I have removed myself from so many activities that if I went would just hold them back. Do you find yourself doing the same thing? Bedtime, but I have so loved writing to you and hearing back. Thank you.
My 2 boys have strange problems! My eldest has a bony spur on his neck and a fusion too and has been told he can NOT get into a fight or play football etc - he has an enlarged aeorta and IF he ever gets hit in the chest it's game over!!! So he doesn't do any sports unfortunately! My youngest was born with club feet, an enlarged head, and MANY other problems! When he was 4 he was diagnosed with Ehlers Danlos Syndrome! Which at the time made some sense, but the genetisist also stated that there was something else, that they haven't seen before! So the 3 of us were diagnosed with EDS and life continued forward! They were baffled by my boney growths and fusion as this isn't charecteristic of EDS! So about 6 years ago i started getting Skin Cancer - basal cell! then in the last 2 years just one after another after another! Then - as I stated - I couldnt' go to my old surgeon! Went to a new man, from England, who was the professor at our local university! I sat down and he started looking at my hands, my teeth, asking questions about my jaw, my vision etc. And I'm answering yes to all these strange questions! All of a sudden he turned to me and said "You have Gorlins Syndrome" I was like this o.O So within in a week of some major surgery on my face, they had doctors from ALL over phoning and emailing about us! And as I stated they don't have any other reference about ALL our weird bone things! So this is why I wanted you to see a genetisist! Because wouldn't THAT be something IF you and us have the same UNIDENTIFIED Syndrome!!? Now THAT would be one for the books and ALL the "non believers" As I am a Christian - don't have any religious affiliation! I believe in ALL religions as they are just rules of nature and man basically! BUT I do believe in FATE and bumping into someone on one of the MANY health websites! We will have to toss a coin to see if the syndrome is named after us or yourself! ;-) XD XD XD My sons pediatrician said to my eldest "Hey you might have your own syndrome, good look at getting a wife after that!!" o.O She was just kidding around, BUT my eldest - the walking girl magnet - said "MOM! DONT EVER NAME IT AFTER US!" XD
I will tell you a funny - but perhaps interesting - fact about me! And the surgeon's reaction! Throughout my life I have had STRANGE interactions with animals! I have been "Attacked" - licked, or snuggled - by the following animals - SWEAR TO GOD!
1. A bull, a horses, a lion cub, 2 girraffes, 2 raccoons,more dogs and cats then I can count, I have been pood on my head at LEAST 20 times! A Bat, a Beaver - fell in his den, so I don't think that really counts!
When I was a little girl, my dad took me to a farm and lost me! He heard screaming and ran and there I was inside a fenced area sitting with a Bull! And he was licking me! Giraffes - at the zoo, on 2 seperate occaisions - lick me, a lion cub - at a circus - licked me (hurt!!!!!) and put it's claws in my dress and it took 3 men to get the cub off of me (I will ALWAYS remember it purring!), Horses, Donkeys, Lambs etc etc etc have ALL licked me! One horse tried to stomp me to death too!
So I was telling the surgeon this and his back was towards me! All of a sudden he stiffened up and said "Well actually!..." I shouted out "IF YOU TELL ME THIS IS PART OF THIS SYNDROME I AM WALKING OUT!" o.O XD He replied "There is more and more proof that animals can sense cancer WAY before the cancer shows on the person, and since you have had this syndrome since birth, that could explain ALL the strange encounters with these wild animals who just lick you!"!!!!!!!!! o.O XD XD
See what you find when you go onto a healthcare website!!!!? And it's ALL true!
The animal story is quite something. Yes, I do believe that animals pick up on certain people and their medical problems. That is amazing. I have always believed that animals are there to comfort us. If we lose touch, hope not, I am in Vernal Utah and under the white pages as Kathy Estes. Please, let's stay in touch so we can see this through. Feel free to discuss me with any of your doctors. the more they know the more they can help us. This forum will not give personal emails out.
The remark about your boys never getting into a fight-well that is so true. I was almost assaulted in the street in front of my house. We went to court. My doctor told me that if the man had hit me it could have easily killed me. What happens is if you take a blow to the chin and it throws your head backwards, it can severe all the arteries and veins on the back of your head and around your spinal cord and you will bleed out right there. Such a scary thought for all 4 of us. What kindof symptoms did your mother have and did she ever have any surgeries? I may never stop asking questions, bear with me, please. I will look up EDS. The more I know the better prepared I am to take any news I am not prepared for. I, too, was wonder woman w/OCD. My house was spotless, things were organized, I had a wonderful memory and could recall names and addresses and phone numbers. But not now. I'm lucky if I can remember the 4 things I went to get at the grocery store.
Regarding your cancer, where are you health wise with that? Did they have any trouble intubating you for those surgeries? I have told you my intubation story. I wear a medic alert bracelet, as recommended by my doctors, for that so nobody at an accident scene will stop my lungs right before they intubate me, that is standard procedure, to paralyze the lungs as they intubate. If this is done and they can't intubate you fast enough, someone will have to breath for you or do a trach. Dawn, please be careful of this. I keep sterile trach kits in my vehicle and in my home. I have choked on food and vitamins more times than I care to remember. One time I thought it was over. My husband did the Heimlich on me 3 times before he could get the pill out. By then I had passed out and saw my life go right before my eyes. In Denver when I received my diagnosis that night at the hsopital, I had an out of body experience. It has all been very surreal. Iam just so thankful for my wonderful hysband and son. After having 1 child I realized that I could not do it again and could barely take care of him. It was very difficult trying to hold him all the while he was moving and bending backwards. It about killed me. If you continue to think of things, please share with me. Also, please feel free to share any info aboutmewith your doctors. I am seriously considering seeing a genetist. I have to check with my insurance and see if they will cover it-doubtful. Stay strong. You are lucky compared to me-no surgeries. Stay in touch, I see my neuro on Aug. 16 w/either good or bad news. I love hearing all about you and your sons. They are going to have to be uber careful as I have read, this occurs mostly in women and Down's Syndrome patients. Ihave no intellectual disabilities.
I also take "Happy Cookies" - hope this doesn't offend you? I was on SO many drugs that I was in a constant state of withdrawls, so a good friend of mine said he could make me some healthy cookies that could help my pain and depression! He stated - seriously - that it contained, Flax Seed, Bran, Omega oils etc etc etc, and I looked at him and said "DO THEY CONTAIN CHOCOLATE!?" As soon as he said "yes" we had a deal!!! ;-) XD The doctors I saw gave me a tHC spray - $600 a month! THIS is legal! Eating a cookie - that actually helps - is not! BUT I have permission from the government for health grounds! BUT with 2 teenagers I don't want to be growing it at home! I'm sure we would have a LOT more friends of theirs coming over though! ;-) XD XD JK!
Talking about memory, I can be talking to my children, husband friends, and just say "Oh Forget IT!" I have just TOTALLY forgotten what I was talking about!! It's horrible1 Then my brain gets stuck and I can't move forward! So I just sit there and stare at the person who is waiting for my next word!!! 8-| ;-) XD XD XD
I just found some more things for you to look at!
1. Klippel-Feil Syndrome
2. Brown Sequard Syndrome
3. Marfan Syndrome
What is REALLY bugging me is this! I have heard of your symptoms before! NOW I'm trying to remember "WHY?" was it from research? Was it from the genetisist? Orthopeadic surgeons? etc. It is bugging the heck out of me! Of HOW I know these and it wasn't shocking to me! A girl I know of and another woman had Decapitation surgery and I just googled it but I found what it is called when you put back the peices - occipital-cervical fusion - The lady i know of, was like yourself, but had her chin on her chest and different parts of her C was fused! They operated on her - in England - basically externally decapitated her, and then put her neck back to where it was supposed to be and alligned everything and then fused it with metal plates! She is TOTALLY fine now and virtually pain free! And this was about 10 years ago!!!
Due to the doctors not knowing ALL about me, and what might pop up with the genetic testing, they are hesitant to operate on me! I'm not allowed to have an XRAY! Or ANY radiation! - Good thing I have my laptop! 8-| XD
so Anyways, pain meds kicked in, so off to bed! I will talk to you anytime you want to OK? that's why I'm on here! I started just over a year ago asking quesitons about diabetes for my dad nad WHAM! I'm still on! Also with your knowledge, you can help others on here! Just watch how many people read our posts - they are desperate for information! So you could DEFINITELY help others - and possibly find MORe people with this condition!
I too take cymbalta. I took zoloft for years and it made me gain so much weight, and didn't really help. I have lost the 50 lbs. I gained on it and am now back to myself. I too take narcotics that don't help my memory at all, also honey, if nobody tells you this, I will. I went through menopause and it will make you have memory problems. Menopause was very, very hard on me. I have all my female parts and just thought meno would be easy-NOT. Just passing on my own experience with that one. I take 100mg. of oxycontin-how does that compare with your pain meds? Also 20 mg. of valium, and percocet for break through pain.
I have already looked up Klippel-Feil and Marfan because everytime I would type in my disability these were the ones that would come up. But I found ours-Atlanto-Axial Syndrome. Exactly word for word-C-1 fused to C-2 from birth. If you haven't looked that up-do so now. I never knew there was a name for this, but I found it finally. I have also heard of and looked up Decapitaton Surgery. It is too late for all this for me. I am 57, soon to be 58. I am so totally fused with crumbling vertebras and disks and plated that there is nothing left to work with. I would give anything to be pain free but I fear that is never going to happen for me. I have accepted that after 31 yrs. of pain.
Why no x-rays or radiation-is this because of the cancer? Again, where do you stand with the cancer? How do our symptoms compare with your late mother's? I'm sorry for your loss. She must have been fairly young. Losing parents is devastating.
Dawn, I have had to have help with our house cleaning for over 25 yrs. If I do try to vacuum or put in a days work of cleaning , then I am down for 2-4 days. Everytime I attempt to do something I know is going to end up hurting me, it surely does. I hate that. I can't put my arms above my head, strain, twist, or bend alot. However, because I do yoga and stretching it helps a lot. I have to stay limber and agile to keep from falling.
From what you write you have found people with similiar problems in your country. I was told in the USA this occurs only 1 in 1 milllion. Do those statistics sound right to you? Ask your doctors if you would, if this seems more prevelant over there than in the states. You said you were from a mining town-in England? Were there others from your town with many illnesses?
You are such a sweetheart to open up to me and make yourself available for questions. I have been looking for someone, you, for years to compare lives with. Ours are somewhat parallel. I have had no cancers-just precancerous thyroid, they took it out. I suffer fatigue alot. I am/was a very creative person and loved to create- but all this stoppped years ago. Everything I do, I have to plan around this disability. When we travel I have to make sure we won't be in the car for hours, what kind of bed I will sleep in, how much walking we are going to do. I have basically taken myself out of so many things to keep others from feeling badly when I can't keep up. I was a runner-5-7 miles(in my 20's) a day for yrs. Gone. We rafted the river here for years, gone. The older I get, the worse it gets. I'm sorry to tell you this, but it is my experience. About the only thing left for me to do is read. Well, I would normally read about 80 novels a year and then last year I developed a cataract on my left eye and now need a lens transplant. My eye doctor says they will do both eyes, at different times. So now the reading has stopped because the cataract causes everything to look even blurrier than ever, even with my glasses. This just down right sucks, doesn't it? My husband bought me an iPad where I can make the letters as big as I need them. He is a sweetheart.
I also had to have bladder surgery years(30) ago because of reoccuring bladder infections. Looking back, I believe it was nerves being impinged, because years later, I had symptoms for 1 yr. of having a bladder infection. But when I would go to the doctor I had no infection in my urine. Again, I think it was an impinged nerve because one day it just stopped and has never come back.
I'm glad yo have found the drugs to help with the pain. I don't know what I would do without my meds that keep the pain down. I know when the fentanyl patch wasn't working and made me feel so bad I became suicidal and that was when I cut my wrist. My husband and I were sitting outside and I had kept my pain level from him, not wanting him to worry so over me. He got up to go get us a ahamburger and while he was gone I got up and said to myself I can't take this anymore. I walked into my bathroom and took a knife and broke a disposable razor apart and looked up at the ceiling and slit both my wrist and laid down and went to sleep. He woke me up about 30 minutes later, and he was hysterical. I had bled everywhere. I should have gone to the hospital but this is a small town and I was a very popular teacher, so I did not want to go because it would have been all over town. I remained in bed for 3 days afterwards. My 2 best gal pals came over and sat with me. I was trying to make sense of it all. I felt that if I saw the blood then the pain would drain out as well. I know that sounds sick, but I was sick, sick of the pain and couldn't take another day of it. At what age did your pain start?
Going to do a few things around the house today. Our son is here for a visit. I have to do a lot more cooking when he is here. Sometimes I think it is good for me to be forced into doing a few things because otherwise I would not do much at all. Stay in touch my new friend. Isn'tit a wonderful feeling when the pain meds work and you have no pain for a few hours? It is almost like a dream that you never want to end. What would it be like to be normal? I got to know for 26 yrs. then it stopped.
You are so articulate and write so well, I'm curious, I know you are on disability, but what did you do before? Some people I have blogged with make it down right impossible to understand what they are trying to say. I feel I found a bright, articulate, capable woman to communicate with. Thank you again.