Birth Defect in neck-C-1 fused to skull from birth. My post is under disorders because it is so rare

Well like I dunno like what da saying 2 me!!!! ;-) XD XD XD God help the future of the world!!!! LOL

I was a data entry specialist, and trainer for FedEx International! I could type about 120 wpm and about 20,000 strokes per hour for data entry - I was called "Smoking Fingers"! Then With my injuries, I can type but in small amounts!

I find it VERY interesting tha tyou have this one type of problem YET it is VERY similar to mine! With Gorlins, you can get cataract and vision problems - I have a scar on my retina! Also heart problems and also bladder, kidney, ovarian problems! My mom had kidney cancer, then it went to her lung, bone and then brain - this was over 25 years! So I worry a LOT about the "IFS"! I had a hysterectomy at 36 - now 46! And I am SO thankful I did! I can't ever take Percocet, so I'm on Tramacet, Hydromorphcontin, anti nausea, anti depression, anti spasm, anti shakes etc. They feel that with the Xrays it would bring on a LOT of cancer for me - which right now I have about 12 lessions on my forehead and about the same on my chest! GROSS!!!! My girlfriend cleans my house for me every 2 weeks, I LOVE to vaccuum - OCD really and I will vacuum a little, sit down and then do some more! I don't know what I would do IF I couldn't vaccuum - I know that sounds silly! It makes me feel like i'm doing something for the family! What bothers me is dinners, I can barely stand long enough, so I sit down and cut stuff etc, but it's SO hard! I have written to our local newspaper back in England to see if there is anything around there! As it took me 45 years to be diagnosed, [erhaps someone there is just waiting to find out too! I am like you "You're sick and tired of being sick and tired!" Right?!

I understand your despair! Just know that there a MANY of us out there, we just have to find them all and then get some information with each other and hopefully get the appropriate help!

I've always had "aches and pains" in my back, neck, and feet, but wasn't till I was 21 before they saw the 4 extra bones! And each year after something strange would pop up! And we are like "Yeah I know, it's weird and not seen before etc etc" It was ALWAYS like that! You should see how many people are on the bottom of ALL the documents? Because eveyone wants to be involved with this rare case of ours!

Hi Honey! I can't answer my posts - or even look at them! So I found you the old fashioned way! I was just wondering how you are! I have some FREAKY news for you! But I will wait to see if this works and you receive the email! BIG HUGS Dawn

Dawn, I too have not been able to even access the whole shabang!!! I as so afraid we would lose each other that's why I gave you my town and state. I will have more news for you after next Monday. Yesterday I had my MRI for my visit to the neurosurgeon and he ordered one with no contrast. Well I went down to our local hospital and took my valium to go into the machine, was there for 45 min. they pulled me out and said your neck is so bad we can't make heads nor tails so we have to do contrast. The tech missed the vein the stuff went all over my right arm and hurt like a mother so they did it again. I got to look at a little of it. One of the vertebra is going way in and that is why I am chocking all the time. I fear that I am going to have to make a hard decision, again next week, which means I will be down for awhile, again. Please, please, send me your news. I have missed communicating w/you. Hope your boys are doing well, as well as you. Again I am in Vernal, Utah under Estes.
Let your soul and spirit fly into the mystic
kathy

Dawn-I made a mistake in an earlier post to you. I found the name of my anomoly-Atlanto-Axial-described as when C-1 is fused to the skull. I couldn't believe it when I found it. I am going to look into the decapitation surgical procedure and study up on it. Not that I want to do anything like that just will find it interesting reading.
Let your soul and spirit fly into the mystic.

Kathy

Hi Kathy! Well the province finally paid for the special blood test and this will be sent off to Yale! So we will see! NOW the news!

I lived and was born in a northern England town - mining town - and we moved to Canada when I was almost 11. I had a friend there and about 20+ years ago, my grandmother told me she was killed in a train accident! So the other day I get a friend request from this girl!!! I was quite shocked, and wrote to her saying "Well the girl I know was killed..." And she replied that "There was 2 of us with the same name!!!" In a town of about 750 people!!! so after the shock wore off - that my supposed dead friend contacted me! BUT get this - we started talking etc, and she told me that she has been on disability for .......... Go on guess?!!!! You got it A FUSED NECK!! And other bone problems in her spine and feet, etc. AND her Grandaughter was born with club feet - like my youngest! So we started talking and she was in TOTAL SHOCK! I had to pick my jaw off of the ground! She was diagnosed with Hamburgers disease, but I looked that up and it didn't jive! So she is going for an MRI next week! I told her about myself and finding you on here! I am STILL in shock with this all to tell you the truth!

Like I said to my friend "What are the odds of ALL of this?" So anyways she still lives in the town, and will be talking to a bunch of people in the village! And also she will be bringing it up to her doctor! I think if her doctor goes on a different path then they might be able to help her more!

Isn't that WILD!!!?

Hello Ladies! I was so excited and intrigued to read your posts. I too was born with my C1 fused to my skull. C2 and C3 were fused together and there was/is a big gap that left my spinal chord vulnerable. I am 32 and I am from Utah as well!

When I was 14 I started having huge migraines all of the time. After a year of that, I finally went to see a neurologist to find out what could be causing them. The immediate thought for them was "brain tumor" and so I went in for xrays and a ct scan. My neurologist noticed something wrong with the vertebrate and sent me to a neurosurgeon who had me go in for an mri. At my appointment, the neurosurgeon explained the position of my vertebrate and also explained that my brain stem was kinked. He discussed the fact that whiplash, fall, or other blow to the head would result in immediate death. I needed to have surgery to fuse my neck and stablize it so that my spinal chord was protected. My mother was so freaked out about the fact that anything could end my life and so I was scheduled for sugery the very next day. My neck was fused and I was put in a halo brace for almost six months and then a collar brace for a while after that. I lost 80 percent of the movement in my neck at that time.

Interesting note.... My doctor was/is Robert G Peterson and at the time, one of the partners in his office was one Mark Reichman. I am pretty sure Dr. Reichman assisted on my first surgery as well.

Four years later I started having symptoms of double vision and went in for several tests. It was determined that bone was starting to grow into my brain stem. I needed to have surgery to shave off the bone that was putting pressure on my brain stem. Mark Reichman performed the surgery at that time with assistance from Dr. Peterson. This was in 1998.

Fast forward 11 years, a husband, and three kids later to 2009. I started having symptoms with numbness in my arms and hyperactive reflexes. I went back to see Dr. Peterson and did the whole MRI thing again. It was found that I had a herniated disc putting pressure on my spinal chord and I ended up having surgery to correct it. Needless to say, from the two fusion type surgeries.... I have a lot of hardware in my neck.

Fast forward to today and I am starting to have all of the same symptoms I did with the first herniated disc. I googled "intubation" and "neck fusion" together to do some research and came across your postings. I am certain I am going to have to have surgery again and I wanted to know the experience others have had with needing to be intubated during surgery. I know when I had my surgery done last year, it took almost two hours for them to intubate me and that was finally using a fiber optic camera. My biggest pain post op was my throat and I believe that is most likely the reason. Being intubated is the biggest part of the operation that scares me the most.

The thought of wearing a medical id bracelet has never occured to me. I need to look into getting one.

I don't suffer any chronic pain like you do yet. Have you had chronic pain since the discovery of your birth defect? I can't imagine it and hope that there can be something done to get you through the days. I still suffer from constant migraines... but the doctors tell me they are not a side effect from my neck problems. They are a constant reminder of how lucky I am to be alive as they are the reason that my fluke birth defect was found. My doctor couldn't believe I had lived as long without any problems.

I have never talked to anyone in my life who has a similar birth defect.... or even a fused neck! I hope you guys will let me into your circle. :-) I take effexor/welbutrin for clinical depression. I couldn't live without it.

Hi! This is getting weirder and weirder! It is something out of Ripleys believe it or not! But at the same time comforting! I haven't heard from your Kathy! I hope you are OK? And Audra, isn't the internet an amazing thing? My friends are BLOWN AWAY! With my old old friend finding me on facebook - who I thought was dead! And has the same defect!

I was wondering Audra! do you have anything else going on or has gone on with you - I know this is enough already? Do you or your parents come from a mining town or a chemical plant? Have you had any jaw cysts, or skin/ovarian/kidney cancer, pits in your hands and feet (like little pin prick holes), groves in your teeth (My lipstick ALWAYS gets on my teeth), and has your children been born with any bone problems or large head?

My youngest son was born with club feet, 2 toes fused together, a large head etc! He was originally diagnosed with Ehlers Danlos Syndrome - which he also matches, but now I have been diagnosed with Gorlins Syndrome, And as of last week, they also think that my youngest son has DiGeorges Syndrome!!!! For over a year now doctors have told us they think we might have our own syndrome! BUT Perhaps we ALL have a undefined syndrome! IF it turns out one day that we ALL have this, then it should be called the Steady Health Syndrome! As my boys have told me in NO uncertain terms, our names can NOT be mentioned for the syndrome!!! o.O XD XD XD ;-) As my childrens pediatrician said to my eldest "Good luck getting married then!!!!" o.O

As one doctor stated to me "Sometimes ALL it takes is one bit of information - that you might think is nothing - to finalize what the diagnosis is" Which is true! It took me 45 years before anyone asked me the question to connect ALL the strange dots together!

My lengthy reply did not post on Wed. Before I write it all again, I want to make sure this gets posted then I will write to my 2 new friends. I have much to say to Audra.
Kathy

I think the glitvhes are fixed now!

Audra, did you get my last post that started addressing both you and Dawn. We would love for you to take part in our conversations about this really rare condition. I am especially excited that I might get a chance to meet the only other person w/this anomoly, available to me. You have no idea how important this is to me. I am 57 yrs. old and have lived with this since I was 26 yrs. old making me a victim for 31 yrs. I know what I am talking about when it comes to this and all that this involves. Dawn, you are a sweetheart. I will write more when I have time. Supper time in Utah, right Audra. Just so you know, I am not LDS, but have no grievances w/those who are. Also, I saw Dr. Reichman this last Mon. and was shocked with his attitude and his behavior as a specialist. I am going for a second opinion regarding this situation. I have to find someone that is covered by one of the hospitals that my insurance covers, and a doctor they cover as well. They cover Dr.Reichman but not Intermountain Health Care. Will write more tomorrow morning. My son will be here so he and his das will play golf and I will have time to write all my experiences.
kjbea60

Hi Dawn & Audra. I will try again to write a short summary or what went on at the doctors last Mon. We go into the exam room, he walks in w/MRI out of package-he had it given to him about 10 min. before he came in. So, he spent an entire 5 or 6 min. looking it over. He acted as though he had me mixed up w/someone else. He looked at my breast the whole time and had really no solutions for this condition. He then went on to tell me that if I got in a car accident I would be charged w/drunk driving because I take 100 mg. of oxycontin every day and if I don't, I can't get out of bed and move. He has no experience to base his decision about this drug and how it affects me. I told him I had a different belief about the drug. It has given me my life back, to some degree. He did not like me challenging him. Now this is a man that has done surgery on me twice and always been somewhat easy to get along with. But, Mon. was a real shock for me. He said he might be able to reduce my pain by 30 to 50%. For me this is huge, for him it isn't worth the risk of putting more plates in or possibly losing my voice for the rest of my life or for a few months of being very hoarse, but eventually my voice would go back to normal. He told me T-1 and T-2 are very hard to get to and risky. Well, as you can imagine we both left very confused and somewhat angry. He is going to write a report to my FP and I will be able to see it. Last time it was sort of the same way. When the sc**w backed out, he would not commit to saying yes, definately need to get this out, or no, leave it-I had already been told by my FP and him that leaving the sc**w the way it was, well it would back out enough to puncture my esophagus and I would die before they could life flight me back to SLC. Then he writes my FP and says she and her husband have agreed to surgery and will be calling in to schedule. None of that conversation ever took place. Audra, is Reichman in with Peterson? I need and want to get a second opinion.

Dawn, anything new inyour saga? I call it a saga because you and your family have been to hell and back. I so hope you find some of the answers to your questions from this group of doctors. I'd give anything to have a group of doctors working with me. Instead, I have a family practioner, a neurosurgeon, and a choice of the most common kind of doctors in our little town. I wish I could find a team that would be willing to work with me and comeup with a solution for all the feelings I have in my body, and get to the root of my pain and help me. Many days I feel like just dying. I am so tired of this lengthy pain and living with something w/no cure and having to trust doctors that don't really get it.
I would love to go to the Mayo Clinic.
Audra, I too, have to use a fiber optic tube for intubation and I do heavily suggest that you get a medic alert bracelet that says on the back of the ID plate, "Very Difficult Intubation." When they read that they won't paralyze your lungs like they are suppose to. They will probably to a trach,which is better than smothering to death. Please do it for peace of mind and for your family.

Okay Ladies gotta go. Please, oh please, stay in touch. Audra, I look forward to some day meeting you for lunch or something while I am in SLC just so we can meet. I had a nice letter waiting for me when I got home from SLC Fri. It was the DMV wanting new measurements on my mobiity which means I get to go do another driving test, and hopefully get to keep my lisence.

Let your soul and spirit fly into the mystic.

With gratitude and joy,
kathy

Dawn and Audra- amen, at last. I have not been able to get on line here for months. Finally, someone straightened it out. How are you both doing?? Audra, I went to see Dr. Gaufin in Provo and he told me Mark Reichman telling me he could reduce my pain by 30 to 50% was BS. It can't happen. Also, told me the only way to get to T-1 and T-2 is to crack my chest open and have a cardiologist ready and waiting. I said no thanks. He said he wouldn't do it anyway. I continue to have alot of pain in my arms, back, neck, hands and just all over. Have any of you had new developments? Please stay in touch. Dawn, any new things with you and your family? So glad to find youboth again.
kjbe

I guys! IF I hadn't have checked my inbox on my main computer I wouldn't have known about this!!! It didn't show up on my posts! But anyways Glad to reconnect with all of you! We have some upsets right now! 1st the test results did come back and I DO have Gorlins Syndrome! And now Connor - my youngest has 5 massive cysts eating away at his jaw! And our government wont cover the part of them having to remove his wisdom teeth! So I'm fighting that right now! Been in AGONY last couple of weeks, don't know what's going on with that! I would just LOVE to crack my neck from it's present position - I know you guys know what I'm talking about! And also when doctors say ALL the terrible things that might not or might happen, it means that they don't have a clue what to do! When you find someone that does, they will lay it straight and THEN tell you the "perhaps" Sometimes I'm a great believer in NOT doing anything! BUT once the process has started it's hard to turn back - because things have already changed!

I HATE having to deal with doctors that say one thing one day and another thing the next! I was told that one of my growths on my spine was ready to come through my skin - this was by a specialized doctor - then I told my GP! And he was freaking out - as was I - and then the Doctor said that it was find for now!!!!! So it made me look like a liar! It hink when it comes push to shove they back out or try to act as professional as possible - as they need referals to stay afloat! Is there anyone else you guys can write too asking their opinion?

KJBE,

My name is Kelli and I am 28.  I found out a little over one year ago about my neck.  I have the exact same thing you have.  I was born with my C-1 fused to my skull and the pain is getting worse each year.  I started noticing pain in my late teens.  I too, have not been able to find anyone with the same disorder.  All I know is that its really rare and can be dangerous.  Even my family doctor acts like she doesn't know what to tell me.  The only advice I have gotten is to do neck exercises.  Sometimes I feel like my family thinks I over react for attention.  THey just don't understand the pain.  I would really like to chat with you. No one else could possibly understand.  I know you wrote your posts a couple of years ago so I'm hoping you will receive this.

Thank you,

Kelli

My C1 is fused to my spine as  well.  I had always displayed narcoleptic symptoms but my cataplexy got worst over the past 4 years.  I am 33 found out about the c1 to spine fusion on my first chiropractic visit.  After he saw my x-rays he sent me for an MRI on my brain and spinal cord for a Chiari's diagnosis.    Sure enough all my worsening cataplexy was due to my brain slipping out and slowing spinal fluid from leaving my brain.  It would also cut off my breathing at night when certain parts of my head were touched.

My tingling extremities and lack of breathing were due to this, as well as my IBS.