Camurati Engelmann's Disease's topics - tribe.net

Its good to talk!!!!

Christina — Sat, 24 Oct 2009 13:43:34 GMT

A big Hello to members old and new! :o)

There seems to be a distinct lack of activity on this group lately and I wanted to get you all back in the habit of keeping in touch again!!
You dont just have to chat about how good or bad you are feeling, or what meds you are on.. Find out a little about each other and I am sure that you will discover that we have a lot in common!! :o)

I am trying to get a head-count of exactly how many members we have between the 3 groups that we have set up... This one, the Google group and the Facebook group... to know exactly how many sufferers have found us. ALSO I am really keen to find out which of you have relatives with CED??
A recent article I read about CED on the Gene Reviews website says that there are approximately 200 people in the world with CED. How they got this number I do not know? But I would really like to find out for sure how many people we have made contact with so far whether its online or in your own family circle. So I would really appreciate your help! :o)

Looking forward to hearing from you!

Chris. xx

posted in Camurati Engelmann's Disease - 1 reply

RE: need some more information about the camurati disease

Jasmin — Wed, 22 Apr 2009 02:48:56 GMT

hello!
i have a dughter 7 years old and 10 months, a specialist for the bone diagnos that she has a camurati engelmann's disease, i want to know at this early age there is anything or treatment in these disease, thank you

jasmin

posted in Camurati Engelmann's Disease - 1 reply

Chris needs some love!!

Lauren — Mon, 23 Jun 2008 08:37:05 GMT

Hey Everyone,

Just letting you know that our faithful leader isn't very well at the moment. Chris has been there for us at some time or another over the last few years - Forever positive, compassionate and caring, she lends us her sense of humour when we are feeling blue, or a shoulder to cry on whenever necessary. An angel to many of us with CED and a friend to all.

Chris is going to have to endure another lumbar puncture soon (something i am sure none of us would want to experience, let alone if this was for the 5th time!!)
So i was hoping we could all just send our love, support and thoughts via tribe or email, to let Chris know that we are thinking of her always, here for her if she needs a friend and hope that she is feeling better soon.
Get well soon Chris from all your CED friends on tribe and google!

Lots of love and hugs from your friend,
Loz xoxo

posted in Camurati Engelmann's Disease - 2 replies

CONGRATULATIONS!!

Christina — Wed, 17 Sep 2008 14:09:02 GMT

I am sure that you guys would love to join me in saying a huge Congratulations to Dairne and her partner Rob (New Zealand), on the safe arrival of their beautiful baby girl Aoife Davidson Madsen, who was born on wednesday September 10th 2008.

With lots of love to you all,

Christina. xxx

posted in Camurati Engelmann's Disease - 0 replies

Looking for a friend

Lil — Fri, 20 Jun 2008 18:57:39 GMT

Hello my name Lillian from Phoenix, Arizona. I am 37 years old and would love to be able to talk to some of you via email. I do not have access to the internet full time, but when I do email would be much easier for me to check.

I have noticed that everyone here experiences the same pain or close to the same as I do, but I was curious if anyone else here has been experiencing a growth in bones? My left arm has grown significantly as well as my legs. The bones seem to be growing in width rather then length and are becoming very noticeable.

I am not sure if the growth is because of the steroids, but I am noticing that as my disease progresses and my bones get bigger I am being turned down by more and more doctors here in Arizona.

I would love to hear from some of you guys and your experiences with doctors. Is there a specialist you guys recommend? At this point I would love to speak or meet any doctor who can give me some type of answers, Instead of just being turned away.

Please email me with your response at lil.boop@hotmail.com again I understand you have your own lives. But I would really appreciate a response from someone who can understand my pain and where am coming from.

posted in Camurati Engelmann's Disease - 0 replies

We've moved!

Mary — Wed, 06 Feb 2008 07:30:36 GMT

Hi guys, I want to make sure that everyone knows we had to move our group. There were problems on Tribe so we moved to the Google groups!
http://groups.google.com/group/Engelmanns?hl=en

Engelmanns@googlegroups.com

You can sign up and then we can all keep in touch!

Hope all is well with everyone!
~Mary

posted in Camurati Engelmann's Disease - 5 replies

New Member

Loll — Mon, 28 Apr 2008 09:01:39 GMT

Hi Guys

I found you when I joined the Google Group! It may take me some time to figure out how to use Tribe!!!!

Best wishes

Loll

posted in Camurati Engelmann's Disease - 0 replies

Thank You!

Niki — Sun, 24 Feb 2008 01:04:02 GMT

I wanted to take a quick minute before I head out to my Social
Security appointment to THANK YOU all for your gracious support! As
you all know this disease is difficult on us not just physically but
mentally, and I have to say this whole 'job' issue has really taken a
toll on me. I seem to be in great pain and exteremly tired more so
now with all this stress. Soooo I am going to take a well deserved
day at the spa, and have a full body mild massage and renew my
positive attitude and get back to my happy self :) The weather here
also is not helping since it is cold and rainy (sleet) and maybe 17
degrees today! But I will hang on and I will get through this. Since
I am not currently on any medication other than my asthma meds, I will
be suffering through this pain. If it sticks around or gets worse then
my doctor will put me on a round of Prednizone, but I do not like
taking that at all! The side effects I have are yucky... weight gain,
nightmares, swelling, moodswings, just feel yucky, but lol it really
takes the pain away, crazy what we do to get through this, lol. Thanks
to you all for everything. I am truely thankful for all of you and
everything you have done to help me out in my 'messy' situation. YOU
ALL ROCK :) THANK YOU THANK YOU THANK YOU and I will keep you posted
as to any results.

Luv to you all,
Niki

posted in Camurati Engelmann's Disease - 0 replies

The beginning

Eugene — Tue, 19 Feb 2008 16:22:27 GMT

Hello.I am the person from which all modern understanding of Englemanns Disease (as it was spelt back then) began. WHEN I was a small child my mother noticed I cried when I walked... so... took me to doctor after doctor to find out why. IT was not till I was 18 the condition was finally correctly diagnosed. This was 1959. I was attending the Orthopedic Clinic at the University of Washington Medical Center in Seattle... and coincidentally, there appeared another young man with the same symptoms... extreme pain when young... and he was also experiencing considerable distortion of the leg bones, and he was thin too... and it was discovered that we had a common ancestor... back in Montana. It was guessed that the condition must be Engelmanns Disease. At the time, there were only 21 known cases of the condition in the world. .. making it then one of the rarest diseases in existence.The genetics department at the University of Washington Medical Center gained a substantial research grant... and sought out my family tree... on my father's side. AT THE time... the condition was diagnosable only by x-ray... and was the only condition that was. SO my living family tree were all x-rayed... to the extent that it could be. FORTUNATELY, I had a great aunt, Mildred Bressie... who knew a great deal about the family.. which stemmed from the back woods country of Montana... in Whitefish,.where the Tiffany Family dwelt. AND so fellows from the University of Washington's genetic department would ferry (an hour ride) from Seattle to Bremerton where Mildred lived... and they interviewed her... extensively. The result of their investigation was that more than 20 more cases of Engelmanns Disease was identified... in my distant family tree. All of which had priorly been misdiagnosed... usually as Polio. I underwent experimental surgery to correct my very distorted legs. I walked in a crouch... and could not fully stand up. My feet aimed half outward... while my knees half pointed toward each other. So... walking was considerably difficult... and tiresome. I had weak muscles... and little fat .. so was quite skinny. Thin. Hard to keep warm in the cold and rainy weather of the Puget Sound area. At the age of 18. I was given powerful drugs to stop my growth...as at the time I was growing taller fast... and it was believed I could grow to seven feet tall. Understand, in those days there was next to nothing much understood about Engelmanns Disease. It took longer a year to affect a change to my legs alignment. I underwent surgery twice... both legs each time. First beliow the knee... then above... where the bones were cut through many times and sectioned back together so that my feet would be more properly relocated. The upshot was miraculous... after a months of painful therapy... I could walk... nearly normal..,.. and I reentered school. I had been removed from scholl at the age of 11... as my doctors at the Childrens Orthopedic Hospital (now know as the Childrens' Hospital) in Seattle, had decided that attending school was to difficult from me. So I then stayed home. I had no home-schooling... as the school district had no funding for it. So... I mainly engaged in my crafts projects. The Librarians at the public library in Bremerton some how learned of my situation... and sent the Bookmobile to my house. The Bookmobile librarians quickly learned what books I liked and would seach the main library for hand-picked out stuff for me. I didn't read fiction... but books on science, philosophy, religion... anything I could learn something from., Some years later an I.Q. test disclosed that mine was 147, which is at the 2% level of humanity... and in spite of the fact that in the feild of mathematics, I am an absolute idiot. I can't think when I try to work mathematical problems out. IF my math ability were only "normal" then my I.Q. would be... astronomical, eh? But of course, these days... I am in no way limited in math. I use a calculator... and my computer. No problem! I was so so hungry for knowledge as a child. After a year at home I gained a home tutor... who would bring records from the public library and a portable record player from the school... and we would often just sit there in my room listening to classical music. He would also bring me his college text books to study. I was about 14 at the time. This was thime of best education by any instructor save for when I was in first two years at school. Mr. Hanson was the man's name.Will skip that part of my story about my first years of scooling... and I skipped the 1st grade... for now.

AFTER the corrective surgery on my legs.... I went back to school... two years behid the class that I had originally been in... I entered aty my Junior year... so the children I had known were gone. IT wasa major new learning experience beingback in school. I had never learned to study... as students need to do. BUT I did okay. I was the artist for the Year Book, in final two years there... with the last winning a major state award. My theme was, Water! I had to talk the staff into my chosen theme. That was quite a feat... for an introvert like me. I did seascapes... and rain images... and waves for the yearbook. It turned out really good.. The cover was a graphic symbol of a wave design. Looking back with an educated eye, it is amazing how well I did then with no formal education... though I had won many ribbons for my art at the Kitsap County Fair... and was interviewed (complete with big picture) by a reporter from the Bremerton Sun Newspaper., as a child.. in relationship to what all i could do in relation to what all i was up against. AFTER High School I could have gone to the University of Washington on a scholarship (I was 12th in my class out of over 200 students) but had been convinced by others that I was a good artist... and should go to Art School.. so... did. I went to the Burnley School of Professional Art, in Seattle... which is now known as the Art Institute of Seattle... and is now a vastly superior school. Though, Burnley, in its day... was the best. I was aZ competitive scholarship winner there. AFTER art school.. I worked at the Boeing Airplane Company in the Motion Picture Unit as a storyboard artist, and film editor... making movies... such as one called, Numerical Control. This was about the computers that Boeing used... back in the days before there was anything called an IBM PC. Unfortunately... I suddenly began to feel real bad at times during my art school days. And in the 3rd year at Boeing I began to lose my hearing. Fast. The doctors at the U of W....sent me to California... where I underwent surgery to restore my hearing, by the real Dr. House... who later developed the Cochlear Implant hearing device... for which I became a candidate twice. BUT the necessary tests showed that it would not work for me... to restore my hearing... unfortunately. BUT... very fortunate was that House had discovered that there was developing a huge pressure on my brain (which certainly explained the severe depression I had fallen into... and, otherwise, inexplicably, at the height of my shrived-for career I underwent immediate surgery that expanded the right side of my head... and two weeks later, the left side. My hat size grew from SMALL to EXTRA-LARGE. Man... once again... I could THINK! Oh, them were the days... the weirdest days any one can possibly imagine... and a long story by itself, alone. It was like being on LSD 24 hours a day... for weeks non-stop... oh, for moths... even for over a year. I kid you not. BUT.. what a great education concerning alternate states of consciousness... all those years were... from five years beginning priorly before the head surgery... and then for years more. I had many many full blown Out of the Body Experiences... and could sometimes do it intentionally. Man... I really miss doing that. I have not experienced the phenomena for years, now... but I learned a great deal about the subject matter at the time, and plan to publish books about the true nature of Reality... and the Universe... in due time. These days, most religions are way off base.. Most religions are founded by peeps without a clue. Fools. And they mislead people... and throw their followers way off the True Path. Damn their hides. But that's enough about that. These days I am using a wheel chair to scoot around my house in... just started using it. BESIDES... and having crooked legs once again.... and no sense of balance... I have severe arthritis of the knees... so is difficult and painful to walk around... not to mention dangerous. I want to make what use I have of my legs last... so the wheelchair usage is a good thing. It will help. I need knee-joint replacement surgery... but it was deemed not possible... as the changes of angulations of the leg bones make it impossible to line up the replacement joint szproperly. SO MUST preserve what locomotion I have... by staying off my legs as much as I can.

OH.... I typed all the above with just two fingers... as I also have no twist to my wrist... so cannot make my palms face a keyboard. This is a consequence of the Engelmanns Disease affecting my arms.

One more thing. I also have no smile. I should play Poker... as I have an absolutely expressionless face. This occured along with the hearing lossss... when the nerves running through the Mastoid bone just behind the ear got crushed.

One more important story here. A younger distant relative of mine... became a doctor... named, now, Dr. Stephanie Wallace.. She decided on doing Englemanns Disease research as her thesis. She was instrumental in the development of a blood test to identify the "bad gene"... and showed up at a 4th of July family picnic one year, flying up from California and drew blood from everyone (but a cousin who had been a Marine... but was too scared of needles to allow the doctor to have a sample of his blood... the fool). As a result of Stephanie's research, the defective gene was identified... and it was learned who in the family has the disease... and who does not. My father does, as a "CARRIER"... but my brother does not... so his children and their children... and the further linage on... are now known to be safe.

With me... the buck stops here. I don't have any children... and won't. It would pain me all again to see a child of mine suffering as I once did. Physical pain of my own I can deal with... but... not emotional pain. That I know i can't handle.

I plan to write an autobiography, in due time... where my story about Engelmanns Disease will just be a small part of it. I used to like to say that I am the most incredible, amazing, person I ever met... which is an amazing thing for a Card Carying Introvert to say. This was always meant half as a joke... while being 100% the case. I have the most incredible story to tell. I really should get at it, eh? But I've been busy. Just made a new dinning table... that seats four to eight... with extension leaves. It is designed to look like an antique from a Maharaja's Palace back in ancient India. It has jewels... and gold... and lots of dark wood... and round black legs like elephant legs. It turned out well. It's not just a table... but also a skulpture... a work of art... and will eventually be worth a king's fortune. Maybe. BUT... there's also my books I should finish and publish.The world won't be the same once they get out. I gurantee it.

posted in Camurati Engelmann's Disease - 0 replies

Quick Question on Meds

Adam — Tue, 02 Oct 2007 15:05:57 GMT

Hi Everyone,

I am new to this site and this is my first post. I have had this disease my whole life and like many of you I have been switching between meds my whole life in an attempt to find one that can help with the pain. I am 25 now and feel like I am at the point where the meds just aren't working anymore. I was wondering if anyone has any good tips for helping to manage pain without the use of medication. Any info would be greatly appreciated as it is starting to get cold and damp again.

Thanks for the help,
Adam

posted in Camurati Engelmann's Disease - 3 replies

Getting to know you...

Christina — Sat, 10 Mar 2007 12:48:21 GMT

I figured that because all my post of late have been about medical stuff or me having a whinge, I thought it may be nice to find out when you all get your birthdays so that I can send you emails/ecards?? :o) xx

posted in Camurati Engelmann's Disease - 12 replies

Another new member

Vera — Fri, 16 Feb 2007 11:26:21 GMT

Hello, our names are Vera and Kurt. We live in South Tyrol in Italy - so please excuse our English. Our daughter Hannah now is 10 years old; she was diagnosed with CED at the age of two years. Thanks God her brother who is 8 years old is healthy.
The doctors told us that Hannah is severely affected by CED. Her whole skeleton is severely affected and she has a muscle weakness in her legs as well. Therefore she has difficulties with stairs and she cannot run or jump, but the biggest problem is the pain in her lower legs. She is on prednisone since the age of 3 years which improved her quality of life a lot, but in the last years she developed severe growth problems. Prednisone can reduce the growth velocity if it’s taken in too high dosages. During the last year we minimized the dosage of the prednisone and she takes it only every other day. At the moment she takes 8.75 mg every other day; her weight is 18.5 kg and her height 119 cm. We are very glad that the growth velocity improved since then, but she is still too small for her age and we hope that she will reach a normal height when she’s grown up. Due to the reduction of the prednisone the pain and her ability to walk longer distances worsened. Therefore she takes two additional pain killers (Tramadol and Naprosene) which help a little bit, but if she has to walk a longer distance she needs a wheel chair.
Despite all these problems she is a brave and sweet little girl who loves going to school, is very intelligent, has many friends and likes playing the keyboard. We are now going to buy an electric bicycle for her to help her to more independence.
We have been reading your messages with high interest and whish you all the best.

posted in Camurati Engelmann's Disease - 7 replies

Orbital Canal Decompression

Tracey — Sat, 26 May 2007 02:00:53 GMT

Hi Everyone,

I have been busy with medical tests, which have been a 4 hour drive away just one way. My eye doctor sent me to a Neurologist, who ordered an MRI and an EEG. I finally received the results yesterday, and this is what the letter said:

-"I have reviewed the recent cranial MRI and orbital MRI, which demonstrate features consistant with a diagnosis of diaphysial dysplasia. The MRI demonstrated severe thickening of the entire skull and skull base, causing secondary deformity of the brain itself. The internal auditory canals were completely obliterated by bone and there was marked overgrowth of the optic canals posterior to the orbital foramina. There was no MRI evidence of intracranial hypertension.

I had considered obtaining a CSF sample following completion of the MRI; however, I think this is unnecessary. She has bilateral optic atrophy, which is almost certainly a consequence of obliteration of the optic canals. I will discuss this patient further with Neurosurgery. It may be possible to perform orbital canal decompression. I have written to Dr. Hentschel in this regard."-

So that is what I have been dealing with lately. Today I received 2 more letters, one for an app't for a CT scan, and another to have a consult with the Dr. Hentschel mentioned above. I have already had decompression surgery on my skull in 1994 and that one was bad enough. This other surgery they are talking about is much more dangerous. I am nervous and scared and am tired of going through all of this stuff already.

Does anybody have any info or experience with what I wrote above?? I would love to hear what you have to say, because other than my husband, you guys are the only other people that know what I'm really going through. Hope to hear from you soon.

Tracey

posted in Camurati Engelmann's Disease - 7 replies

Hi, i'm new and i have CED

Tad — Mon, 03 Sep 2007 19:13:05 GMT

i'm a 17 year old teenager, in the midwest. I have had CED since i was born and i googled it one day and found this. I have been taking cozar and steriods for about six months now with physical therapy. My quality of walking has improved alot, i am still unable to walk long distances, so i resort to a wheelchair when i go to a big mall or a fair. I have bouts of pain here and there, as of right now i am in one of them. I blame it on the growth spurts i have been going through. I hope to get to know you all and learn more about this disease and how you guys cope with it.

=) Tad

posted in Camurati Engelmann's Disease - 2 replies

CED Questionaire

Sat, 17 Mar 2007 01:25:36 GMT

Hello Everyone,

I hope you are all well.

A few years ago Christina sent an email to some of us, requesting each person fill out a Camurati Engelmanns Disease questionaire she had compiled. The results were very interesting. Perhaps it is time that we do this again, except as a blog with members adding their answers. We can include questions such as:

1. The age of your CED diagnosis?
2. Has CED occured in your family previously?
3. Where is the pain in your body?
4. What are your symptoms?
5. What triggers a flareup, or causes you more pain?
6. What treatments help you?
7. What medications haven't helped you?
8. Have you had your CED gene tested? Etc.

I still have a copy of the original email. Perhaps we could show the completed questionaire to our doctors. It would also be very helpful for if you wanted to quickly find out if anyone has had a problem with a new medication, trial a different treatment (such as heat therapy), or check if others have a similar symptom. What do you think?

Take care everyone, talk to you soon.

posted in Camurati Engelmann's Disease - 6 replies

Keeping Warm

Mon, 27 Aug 2007 02:22:33 GMT

Because we are all fairly little (in both height and weight alike) it can be very difficult to keep warm, especially in the colder months of the year.
I recently received an email from Vera explaining that Hannah gets very cold when swimming during the summer months and experiences additional pain afterwards.
The following ideas are just some of the methods I use to stay warm and subsequently keep the pain to a minimum...

As this message is intended to help the younger members of our tribe (Hannah, Nathan, etc.), please add as many ideas as you can. Thanks.
Take care,

Loz

_______________________________________________________________________

* My parents bought me a child sized surfing wetsuit when I was young.
I used to wear it in the pool and at the beach. It provided great sun protection and I didn't have to work as hard at staying afloat. I could suddenly join my friends and family in the pool or ocean without enduring extra pain as it kept my core temperature lovely and warm (even in cold water). This may be a good idea for Hannah.

* I have recently bought some thermal underwear from a snow-ski shop.
These can be worn under my jeans in winter to keep my legs extra warm. I also purchased the thermal top, and wear it to bed during winter for extra warmth. If you go to the ski shops at the end of the winter season you can purchase the thermal underwear for a special price and not have to pay as much (as they can be rather expensive).

* I have also started to wear 'leg warmers'.
You can buy these from ballet or dance shops and they go all the way up to your knee. I wear these under my jeans when my lower legs are hurting. You can also get knee-high wool socks. Some dance shops also sell 'arm warmers' that go from your wrist to your elbows (great for when your arms are cold & sore).

posted in Camurati Engelmann's Disease - 0 replies

cozaar

blaise — Fri, 24 Aug 2007 02:12:36 GMT

Hello Patrick;
It's Blaise. I am experiencing some good results from cozaar 50 mg's per day. Most notibly in all bones and muscles troughout my extremities. No real benefit with my spine at this point. Did you get my other e-mail? I told my doctor about you and your trial with cozaar, He would like to have a direct line with your doctor. My e-mail is blaiseroche@yahoo.com home phone 860-261-4338. Bristol CT. Boy I thought I was the only one with severe spinal problems until I saw the x-ray that you posted! Get in touch with me.

sincerely , Blaise Roche

posted in Camurati Engelmann's Disease - 0 replies

Are you using PREDNIZONE

Serena — Wed, 21 Mar 2007 13:39:14 GMT

i have used prednizone sence i was two till i was 13 it made me gian so much wieght. Right before i stopped it i weighed 126 pounds right now i wiegh 89. I also got steriod induce astoprosis (sorry i can't spell) dont get me wrong it helped me but it also gave me some more problems. I just wanted to say be aware of the symptimes

LOVE
Serena

posted in Camurati Engelmann's Disease - 5 replies

Losartan (Cozaar)

packyman — Tue, 01 May 2007 18:30:38 GMT

hi all,

sorry i've been a bit 'out of it' with my postings, but my health hasn't been the greatest. which brings me to the topic of 'new' meds to try.

have any of you heard of/are taking a drug called Losartan or Cozaar? dr. jacqui hecht, the dr. in houston who isolated the CED gene emailed me last week and said that Losartan seems to be working well with connective-tissue disorders such as CED. i'm going to talk to my dr. about being put on this as a trial to see if it works for me. talk to your doctors, too! and if you're on this already or have tried it or ANYTHING, PLEASE share your experience with us! it sounds pretty promising. let's hope so!

more later,

patrick

posted in Camurati Engelmann's Disease - 2 replies

What is Camurati -Engelmann's Disease?

Wed, 11 Apr 2007 03:14:14 GMT

Hey guys,
I hope you are all well. Below I have included links to several websites that have information about CED for all of the CED Tribe members. I found these on Google and Yahoo by typing in 'camurati engelmanns disease'. I felt that these were the best researched websites, providing clear, concise, detailed and relevant information about the disease. Please feel free to add more as you find them.
Take care,

Lauren

* Engelmann Disease infomation on Healthline - http://www.healthline.com/galecontent/engelmann-disease

* GeneReviews of CED - http://www.genetests.org/query?dz=ced

* OMIM CED 131300 - http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131300

* Office of Rare Diseases - http://rarediseases.info.nih.gov/asp/diseases/diseaseinfo.asp?ID=1072

* The Journal of Medical Genetics, CED: Review of the clinical, radiological and molecular data of 24 families and implications for diagnosis and treatment (Dr Wim Van Hul)- http://jmg.bmj.com/cgi/content/full/43/1/1#T2

The abovementioned journals and websites are in no way connected to this Tribe or support its views, opinions or recommendations. They have been included purely as readily accessible information about CED for people with the CED disease.

posted in Camurati Engelmann's Disease - 1 reply

A very warm welcome

Allison — Sat, 03 Mar 2007 18:13:43 GMT

Hi!
I want to give all the new folks a very warm welcome!! I know I am very, very late with this but life has been crazy here lately. I am Allison and am 37, married and we have two children, Betsy age 8 and Brian age 5 and we live in Northern New Jersey. I am a disabled nurse. I have Engellman's as does my twin sister and my dad. My twin sister and dad were diagnosed as young children and they both have it in their legs and arms. I was not diagnosed until I was adult. My Engelmanns is primarily in my skull though i do have it in my left leg as well. I was initially misdiagnosed and because of that I was given treatments that actually ended up making me worse. I ended up suffering a brain stem herniation and found the neurosurgeon that I see now just in time. Two days after my initial visit with him I slipped into a coma and was not expected to survive. I thankfully did and the Neurosurgeon had me see a Pediatric Neurosurgeon that specializes in Craniofacial disorders knowing I would need another surgery to thin down my skull. When I had that surgery done they took a sample of my skull (which was over five times thicker then normal) and sent it to Washington DC to some researchers. I also had a Research doctor order a bunch of tests which finally confirmed my Engelmann's diagnosis. All in all I have had five brain/skull surgeries, over 40 spinal taps and several other related surgeries and procedures. Thankfully my last skull surgery alleviated the daily pressure headaches that I suffered from for years. All the spinal taps though have left me with severe nerve pain throughout my back. I have a great pain management doctor and he helps keep my pain down to a mangable level. Just in the last year the Engelmann's in my left leg has started causing pain that comes and goes.
My dad and my twin sister both had pain as children. I remember my sister having pain and limpling as a child. The kids would tease her because of her limp and I remember wishing I could have it instead of my sister. As my sister grew up her pain became less and less as did my dad's and other then a slight limp they both have no other symptoms and haven't for many years. My sister and I are fraternal twins. As far as our children having the disorder, we will be having Betsy tested in the next few weeks. She has begun complaining of leg pain after running a lot. She is also the slowest in her class. When she was 3 we took her to an orthopedic surgeon because she was falling a lot when she would run and her feet turned inwards and he said it was a fairly common problem and she would most lilely grow out of it by her teens. It doesn't stop her from doing anything and she only complaines once in a while. Our son runs like the wind and never complains of any leg or arm pain.
Now that I have bored everyone (LOL) I will sign off. Again a very warm welcome to all the new people. I would love to hear from anyone that wants to chat. My email address is ABUSHRN@optonline.net.
Have a wonderful weekend,
Allison

posted in Camurati Engelmann's Disease - 2 replies

Research - Is there any going on?

Christina — Wed, 24 Jan 2007 12:02:59 GMT

Hi all,
I know that some of you are far more clued-up and aware of the ins-and-outs of Engelmann's and any research that is being/has been done into it and I was wondering if there is currently anyone continuing to study the condition, or is it dead in the water?
I know that the gene responsible for Engelmann's has been identified and thats great,but is anyone actually using this information to try to find ways of helping us out?
I am going through a really bad patch again at the moment and I feel useless that I cannot do anything to help myself, or any of you! Its so bloody frustrating and unfair!!
I have seem my GP and a Rheumatologist in the past week, both of whom seem to think that "Its just your engelmann's flaring up again" is an adequate response! I am also limited as to what I can take for pain-control now due to bad reactions in the past and so I am struggling to manage with just paracetamol and ibuprofen!
If I could afford to fund research myself then I would!

Apologetically yours (for moaning),

Chris. xxx

welshangel1980@btinternet.com

posted in Camurati Engelmann's Disease - 4 replies

New to tribe

Guillermo — Sun, 17 Sep 2006 16:53:26 GMT

Hello all,

I am so glad to find this blog!
I am Guillermo, and currently leave in Kitchener, Canada. One hour away from Toronto. I suffer from Engelmann;s as well since I was 3 years old. The disease has affected my entire body, and sometimes the anxiety caused by pain and tiredness just takes me out of control. I developed intracranial Hypertension 3 years ago after a treatment with Aredia (Pamidronate) that was supposed to combat the bone density. Doctors say that it wasn’t a consequence of the treatment but related to my skull’s growth! I don’t know. I think it could be, but sometimes I wonder!!!

The same as some of you mentioned, when ever I visit a specialist, they have no clue about what I am talking about, and believe me I have visited several doctors, neurologists, endocrinologists, bone specialists, geneticists, etc….

Some have suggested treatment with steroids, but I am really afraid of the consequences, and side effects. I need to find a specialist with some experience about CED.

Can you guys give me some hints??

Thanks and I hope to hear from you all!

Guillermo

posted in Camurati Engelmann's Disease - 3 replies

Another new member

Fri, 03 Nov 2006 09:51:19 GMT

Hello Everyone,
I hope everyone is well. Thanks to Christina for setting this up (i have been emailing her for around 3 years now), but its great to finally see some of the faces to the names. Take care, Lauren xoxo

posted in Camurati Engelmann's Disease - 0 replies

Another new member

Nannette — Mon, 16 Oct 2006 05:18:21 GMT

I couldn't believe it when I found this website. This I am hoping will answer some of my questions I have had for a long time.
My 5 year old son was diagnosed with CED when he was 3. It is so hard for me to imagine what he goes through everyday. In reading some of your blogs I actually wish that I could trade places with him just to know. He explains the pain like an Alligator or a Shark is biting his legs.
I could use all of your help in knowing what the best thing a mom with a child with CED could even do to help. Leg rubs? Hot pads? baths? I am not sure if this helps at all.
Nathan is on Prednisolone and has been since January of 2006. It was like a miracle drug. He was a new little boy. Doing things he was never able to do or had any interest in doing at all. He is tappering off it now. You can definitely tell the difference too.He has reverted back to almost the same stage.There is not a lot of studies of CED children this young being on it for prolonged periods of time. Any of you?
I am so interested to know your own childhood histories of this disease. I think I may learn here more than at his hospital. (I am still trying to be optimistic about that whole thing)

posted in Camurati Engelmann's Disease - 0 replies

Prozac and bone mass

packyman — Sun, 15 Oct 2006 02:55:31 GMT

http://news.yahoo.com/s/hsn/20061014/hl_hsn/prozacmayprotectagainstosteoporosis

here's an interesting article. i've been on prozac (fluoxetine) since '99, and now it may actually BUILD bone mass?

FRIDAY, Oct. 13 (HealthDay News) -- Could a widely used treatment for depression be a remedy for osteoporosis?

Researchers have discovered that the drug Prozac also increases bone mass, at least in adult mice.

"Treating animals for six weeks with Prozac resulted in an increase in trabecular bone mass," said study lead author Ricardo Battaglino, assistant member of the staff in the department of cytokine biology at the Forsyth Institute in Boston. "It was a pretty significant 60 percent increase."

Trabecular bone is one of two main types of bone and makes up most of the spongy interior of the majority of bones.

Although it's way too early to advocate popping Prozac to reverse or stop bone loss, experts say it's a tantalizing lead for future research.

"For several reasons, people need to be cautious because fluoxetine [the generic name for Prozac] has central nervous system effects," said Dr. Grant Mitchell, chief of psychiatry at Northern Westchester Hospital Center in Mount Kisco, N.Y. "But it is interesting that current treatments for bone loss in osteoporosis do not take this approach, so the idea that we could at some point have another approach to reducing bone loss or even rebuilding new bone is actually exciting. Having more options would be great."

The study, which was funded by the U.S. National Institute of Dental and Craniofacial Research, is expected to be published in an upcoming issue of the Journal of Cellular Biochemistry.

Previous research, some of it by the same team, had found that serotonin receptors were commonly expressed on the surface of bone cells. Serotonin receptors govern the entry of serotonin -- a molecule that helps transmit signals between neurons and is implicated in anxiety and depression -- into cells.

Prozac is a member of a group of antidepressants called "selective serotonin reuptake inhibitors" (SSRIs) that act on this receptor.

The fact that these receptors populated bone cells "was surprising for us," Battaglino said, "because we were taking bone cells and serotonin, two molecules that apparently didn't have much to do with each other."

The next question was whether Prozac, which has an effect on serotonin, also exerted an influence on bone cells and, ultimately, bone mass.

For this study, laboratory mice were treated with Prozac for six weeks. The investigators were specifically interested in seeing if the drug stimulated new bone formation under normal conditions and if it blocked bone loss caused by inflammation or by loss of estrogen after taking out the ovaries.

Prozac both spurred the formation of new bone under normal conditions and reversed overall bone loss triggered by inflammation.

The drug was administered both systemically (like taking a pill) and locally (directly to the bone), and the effects were observed with both delivery methods, the researchers reported.

"They developed a way to deliver locally to the bone, which makes more sense," Mitchell pointed out. "The idea there would be to avoid the [potential] brain effects."

Oddly, a prior study using Prozac found that the drug actually hindered bone growth. The discrepancy may have been due to the way bone mass or density was measured and also to the fact that it involved children, not adults, Battaglino said.

In the new study, Prozac was not effective in female mice without circulating estrogen (i.e. after their ovaries had been removed). In those cases, Prozac "did not prevent bone loss associated with estrogen deficiency," Mitchell said. "It looks like, to be effective in relation to bone loss, Prozac needs to be in the presence of estrogen." This has implications for women moving into menopause who lose estrogen and have an increased risk of osteoporosis, he said.

The findings need to be replicated and, of course, tried in humans, but, given the number of people taking Prozac, the implications could be enormous.

"Fluoxetine is one of the most widely prescribed psychoactive drugs in this country and most likely the world, and it's been like that for at least 15 or 20 years," Battaglino said. "From the public health point of view, this would be pretty relevant."

The jury is still out on whether other SSRIs -- such as Celexa, Paxil and Zoloft -- might have the same effect on bone, Battaglino added, since similar tests on those drugs haven't yet been performed.

"This could be a class effect for SSRIs," he said. "However, it is known that in addition to blocking the serotonin transporter, Prozac can target other molecules -- for instance, some nicotinic acetylcholine receptors and even some serotonin receptors. So, this effect could be specific for Prozac. The experiments will have to be done to answer the question."

posted in Camurati Engelmann's Disease - 0 replies