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McCune Albright Syndrome/Fibrous Dysplasia
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On Jul 30 2008, anonymous Wrote:
We had a great time in Chicago too. Much love to all families - can't wait to see everyone again!
Calhoun Family (St. Francisville, Louisiana)
On Jul 28 2008, anonymous Wrote:
MAS Family,
It was wonderful to see everyone again at the conference in Chicago. For those who were unable to attend this year... we missed you!
I just wanted to thank you all for your continued support. You're an amazing group of families and we feel blessed to call you our friends!
Let's work hard to get plans in order so our group can meet somewhere next year! I think we all look forward to it and need the support.
Take good care and God Bless-
The Lachance Family
Steve, Tanya, Trey and Lauren
(Kentucky)
On Jul 10 2008, anonymous Wrote:
Hi Jacqui,
there is so far one contact in the UK which is: Prof. I A Hughes,
Paediaric Endocrinologist, University of Cambridge, Dept. of Paediatrics Addenbrookeīs Hospital, Cambridge, UK.
Let me know if an Endocrinologist is enough to cover the questions you have or if youīd need more support on the bone-issues?!
best regards,
rita j.
On Jul 10 2008, anonymous Wrote:
Hello Russ,
I would like to get in touch with Jacqui, her message is the most recent. I am based in the UK and my daughter has MAS. I would love to get in contact with her and talk about MAS and our experiences. My email address is lindaspina@hotmail.com.
Thank you so much.
Linda
On Jun 26 2008, Jacqui Wrote:
Hello, my son has been diagnosed with MAS in the last 12 months, we have had one femur nailed so far, but no breaks, we are struggling to find doctors in the UK experienced in this disorder, can anyone help?
On Jun 12 2008, anonymous Wrote:
Hi Leigh,
will you attend with your family at the annual MAGIC-convention in Chicago, end of July? It would be a good possibility to meet concerned children and adults, their families and M.D.īs at once.
Still: MAS-research is comparable to an unborn, to give birth to.
It would be great seeing you!
rita j.
On Jun 03 2008, anonymous Wrote:
http://www.ojrd.com/content/pdf/1750-1172-3-12.pdf
http://www.ojrd.com/content/3/1/12
Updated article on MAS by Dr. Collins of NIH.
On May 27 2008, Leigh Huggler (mom) Wrote:
My son has seen an endocrine dr. for the last year. He was initially diagnosed w/ precosious puberty. I have done ALOT of research durning this process. I have a question...Having taken the urine test for cushings...(which are symptom related to MAS)..what would be the next step if it came back negative. He does also have a large coffee spot on his back & was tested (IGF-1) for MAS, that came back negative. I DO NOT feel confident if the results. Do you have ANY recommendations, as far as the next step of how we could accumulate a diagnosis. Could he possibly have a tumor in his head? How would I persuade the endocrine dr. to go to the next step with TWO negative lab results?
On Mar 15 2008, rita j. Wrote:
Hi Nancy,
thanks for posting your message! As you might know, "we" are working on getting attention for research-funds to get deeper into this genetic default and find interested and reliable students and/or M.D.īs who will do this for the "little group" of us. We are just a "handful" of concerned so it shouldnīt be too difficult to get going. Positive: a small group offers best overview and is easily comparable. I was offered for a Zometa treatment by end of last year but my endocrinologist denied since I donīt need it. I told him to not "add" something to my body/bones which makes the bones so strong that they tend to break more easily than now. Bones need some kind of elasticity to not break. Still, M.D.īs arenīt able to give a competent clue since research is still on the level of "zero".
Hang on and maybe share the info of the new "Zometa research". I did not hear of it. Thank you in advance.
Best,
rita j.
On Mar 13 2008, Nancy P Wrote:
HI I am 42, at the age of 5 I was diagnosed with MAS/FD. As a youth I had bone pain with no broken bones due to limited atcivty. (FD in most of right side, head to toe, and some on left) Age 18 bone graphing on rgt femur due to pain...no symptons again until at age 39, since then pain daily, one broken fight femur, minor eye surgery. I had used every drug incluing Zometa infusions for pain and seem to only have limited relief. Any suggestions? I would high recommend everyone have a Endocrinologist and a good Orthopedic Surgeon that work together. I like both of mine but they are unsure what to do because of the new research on Zometa.
On Feb 16 2008, submitted by Jamie Harvey on behalf of family Wrote:
Dear Friend,
We might communcated earlier. Here is short details about my daughter.
She was diagonised at the age of 18 months and started Letrozole at age 3. She is 4 and half now.
She does not have any vaginal bleeding after starting Letrozole. But 10 days ago she had few drops for 2 days
So far She does not have any fracturs but she has FD in many places including skull.
Her bone age seems to be at 5-7 years now, which was the same just before starting Letrozole one and half years ago.
Doctor suggesting Letrozole is not working for her since her growth is not stopped and suggesting Tamoxifen
Please let me know your suggestion...
1. Can she use the Letrozole for some more time & see the result say after 6 months
2. Is it better to change the medicine now, if so what will be my next best bet...Tamoxifen or any other medication ?
3. Please share with me if you have the experience with hyperthyroidism treatment for MAS... propylhiouracil (PTU) or
methimazole? ....Which one is better with what quantity...
Thanks a lot & have a wonderful weekend ! When you get a chance please do reply.
With regards
B
On Dec 09 2007, rita, Germany Wrote:
hi Russ,
just read your mail from August, 1st. Let me tell you my experience as a concerned:
I was told of bad feet- and back problems. I wore those "grandma-shoes as well and hated them. I wanted to walk in nice shoes if not barefoot, of course! Young girls want it. Teasing was bad enough with such a body so I did not want to double it with those shoes. Sorry folks who work on the orthopadic front: ugly products!! Still? Hope not. If so: there is a chance for change on a certain market!
Anyway, my right leg was/is 1 inch shorter, hib out of balance, back a bit formed like scoliousis. Nothing bad happened! I limped until I was twenty because I did not care about how I was walking. A young guy told me to change it. So, from then on I let cut a half inch of my left heel at any shoe, or put a half inch under the right heel if it felt better when walking. I canīt walk in every shoe but I have my style. Important is to walk straight: head-up, nose tip a bit above the horizon (which is exactly the spot where the sun comes up!) and sholders firm. Honestly, Russ? I was watching on TV back then, how models walk! I watched everyone around me, how they walk. I saw those "books balancing on their heads when going down some stairs", I simply had to learn to walk!
Right now, only Bruce Darnell shows women how to walk. A good thing!
MAGIC should invite him once a year, if necessary!
Enjoy your daughter and donīt worry too much. Everyone behaves as it is best for oneself. Thatīs the best medicine!
regards,
rita
On Nov 25 2007, rita, Germany Wrote:
Hello all,
the days get shorter and lately I start reading again, especially a book my boss was recommending to me. Itīs written by Sten Nadolny, with the title: "the discovery of slowness."
I can only recommend it to all MAS-parents of smaller kids, to read them the story in the eve., or to MAS-adults who want to polish their worthyness. If you like to: get and ENJOY reading! I had the feeling I was involved into the story, especially in the beginning.
best wishes,
rita
On Nov 23 2007, rita, Germany Wrote:
Hello MAS-families,
I notice that the chat-board gets a little rest. I often think of you and your kids and I hope all is well!
Christmas is approaching, which is the time of a hot chocolate with wipped cream on top and story-telling evenings, maybe you read your kids some stories in the late afternoon!?
Iīll go and have my first Zometa-treatment in mid. December, just to make sure my bones wonīt break in the future (as I was told) since my bone-structure and thickness is pretty good for my age, compared to regular ones!
My hint: make sure that your kids train their leg- and backmuscles always here and there. Movement does it: crawling on the floor, pushing their feet against cushions or the sofa while sitting, moving their feet up and down to strenghthen muscles, shifting books on the floor or unpacking the X-mas-stuff boxes on the floor, for decorating. Involve them into the house-hold work and ask them for their interests and hobbies! Keep their brains busy for looking forward to the next year, their struggle will end - sooner or later.
Good luck and never forget: fighting, fighting, fighting!!!
rita
On Oct 16 2007, anonymous Wrote:
See J Pediatr Surg. 2007 Sep;42(9):1578-83.
Oophorectomy in McCune-Albright syndrome: a case of mistaken identity.
Nabhan ZM, West KW, Eugster EA.
Section of Pediatric Endocrinology/Diabetology, Department of Pediatrics, James Whitcomb Riley Hospital for Children, Indiana University School of Medicine, Indianapolis, IN 46202, USA. znabhan@iupui.edu
OBJECTIVE: The objective of the study was to determine the incidence of oophorectomy in girls presenting with precocious puberty and vaginal bleeding who are subsequently diagnosed with McCune-Albright syndrome (MAS). STUDY DESIGN: Medical records of girls diagnosed with MAS between 1988 and 2005 were reviewed. Variables analyzed included presenting features, presence of café au lait macules, presence of fibrous dysplasia, radiographic studies, estradiol levels, tumor markers, surgery, and pathology reports. RESULTS: Nine girls with MAS were identified. Average age at initial presentation was 3.2 +/- 2.1 years (range, 0.6-7 years). All patients presented with sudden onset of vaginal bleeding. Eight (88%) also had breast development and 2 (22%) had associated pubic hair. Four (44%) girls underwent salpingo-oophorectomy before the diagnosis of MAS was made. Of these, 3 had café au lait macules on initial presentation, and 3 were later diagnosed with fibrous dysplasia. Surgical pathology revealed benign ovarian cysts in all 4 patients. CONCLUSION: Unnecessary oophorectomy is common in girls with MAS who are taken to the operating room for a presumed ovarian tumor. This highlights the need for increased awareness of MAS among pediatricians, pediatric surgeons, and emergency room physicians. Distinguishing features, which can be helpful in differentiating these 2 conditions, are often present.
On Oct 11 2007, rita jaskolla Wrote:
MAS-kids: socializing
"Hi" to all moms and dads of MAS-kids!
I would like to point-out that it is very important to manage for your kids to let them take every possible opportunity to be with others in the afternoon after kindergarden, after school or whatever they are involved in, also Saturdays. Make sure they donīt lose touch with the social life! They have to have friends with whom they can share a hobby and regular conversations about their stage in life.
All in one: life goes on! Make sure, that they get a chance to attend. It pays off in the long run.
Good luck!
rita
On Oct 06 2007, anonymous Wrote:
http://web.uct.ac.za/depts/ich/presentations/powerpoints/mccune%20albright%20syndrome.ppt
This is a link to a presentation on MAS by Dr. Alan Davidson.
On Sep 30 2007, anonymous Wrote:
RE: Thomas from Germany, mail of June 12th
hi Thomas,
I did contact you already direct but now I remember something else to tell you:
when I was in the bone-hospital "Annastift Hanover" between 1972 -
1977 in Northern Germany, I shared the room with a girl who was no MAS-concerned but she had a 10 cm shorter leg than the other. What the doctors did back then, was removing 5 cm of the bone of the longer leg (saving it externally), putting the bone together to shorten it and then stey installed a scaffold on the other leg, after cutting apart the shorter leg bone. With that scaffold, which sticked out of her skin and which carried a screw in the middle of the rod to widen the distance of the seperated bone, they turned the screw daily of about 1 mm. After weeks they implanted the 5 cm bone-piece and got her back on her feet in one length. Maybe thatīs a suggestion?
Unfortunaltely, Dr. Groß is now in retirement since the year 2000, he would remember this case.
Good luck!
rita
On Sep 30 2007, anonymous Wrote:
RE to: Jennifer Whiteley (June-mail)
Hi Jennifer,
I had trouble with the arguement of breast-cancer as well, when being 34y. which is now 10y. ago but after an irrelevant/moot amputation I was being told that the doctor had to consider cancer but unfortunately: is wasnīt. The cells around the tumor (no carcinoma!) looked like pure cancer but were in a very young "baby"-stage of becoming cancer one day. I was told I am "a possible" cancer-candidate (when being 25y.) but since our body is "producing" tumors by a defaulty "natural" programm, it is playing tricks on some bodies. In general: hard to tell for a M.D. in any case.
As long as you believe in your "left health" and stay with "how you feel", --> go for your guts feeling!
Still: a "body-owner" can tell more about him-/herself than someone who is viewing down on us from a distance!
rita
On Sep 30 2007, anonymous Wrote:
RE: to Jessica Meyer
Hi Jess,
I understand that CPP is a short-cut of another module of MAS. In the beginning check her (bone) growth. The urine test was done on me when I was 4y. old but it possibly could be done ealier, since one needs only some drops for testing. Ask for it! (your M.D.)
The other thing is that - if you get to know real early what the concern of your daughter is about, you can not do a thing about it, since the defect is already (if so!) printed in her DNA. And one can not say how "high" the percentage of MAS was calculated during her embryo-genesis. But facts will point out, if so, how many defects will become visible, but not how low or high they will show-up.
Does it help?
best wishes, rita
On Sep 28 2007, anonymous Wrote:
Re: Rita
Hi its Jessica Meyer. CPP stands for central precocious puberty.
On Sep 27 2007, anonymous Wrote:
TOPIC to all MAS-concerned:
Please let us know if you are:
- male
- female
and:
- if your right side of the body, or
- the left side of your body
is concerned mostly. A "one line" answer is fine! Thanks to all.
rita
On Sep 27 2007, rita Wrote:
RE: to Jessica Meyer
Hi Jess,
let me know what CPP means, please! If you think about MAS, the easiest thing to check would be saving her urine but that might my difficult since using daipers. Fact: the urine carries all infos for checking her hormone-level. A hormone-level shows certain differences and gives a clear statement. In terms of MAS it would mean: the urine shows a double index compared to regular index of hormone-level. MAS actually starts with girls when showing an action of her uterus: she would be bleeding (1., 2. or 3d. year first). Also, the cafe-au-lait spot is another fact. Additionally: check how fast sheīs growing and compare it with the regulars (ask a child M.D.).
What you can do on our own is checking the internet (Wikipedia) for all illnesses she was showing already and try to find a source which appears on all illnesses: if there is nothing connecting to one another, it could be happening independent. If not, let us know by mentioning the same source or connecting point. That would be a start to look for anything else. So far, donīt worry too much.
rita
On Sep 06 2007, Jessica Meyer Wrote:
Yes , Hi I have a 10 month old premmiee who was just diagonsed with CPP. I was wondering if i should be worried that she could have NF1 or MAS ? She has a cafe-spot on her back and many little freckle looking spots. She has been very sick since she was born , shes had RSV , broncalitits , 2 kidney infections , laryngitist. Does anyone have any suggestions into what i should be lookin at , if she could have something else.She has progressed very fast with her CPP. They have done a MRI and ultrasounds. They came back negative. She sleeps almost all day , and she fusses to lay on her back. Just a very worried mom lookin for answers. ANything will help !! Thankyou
Jess
On Sep 06 2007, meredith Wrote:
ok, i'll try this again...i am looking for a doctor (not in colorado) who is experienced with FD/MAS. my 5 year old desperately needs a second opinion. The doctors we have seen here, include a geneticist, endocrinologist and orthopedic surgeon do not seem concerned for our child and his condition. i would very much appreciate talking to parents with this diagnosis! my son also has kidney issues.
meredith
On Aug 29 2007, anonymous Wrote:
Re: Testing Recommendations for MAS
Re: Marisa's Question
This is what I got from Dr. Collins at NIH for testing recommendations.
Recommendations for Follow-Up of Patients with FD/MAS Bone
1. Craniofacial: very common, especially skull base, vision loss is uncommon, hearing loss even more uncommon, sarcomatous degeneration is rare, while axial and appendicular FD quiets with age, CF probably continues to slowly progress
a. find a craniofacial and neurosurgical team experienced in treating CF FD!
b. avoid surgery in the absence of visual or hearing impairment
(nerves may be surrounded by and unaffected by FD bone for years)
c. severe pain or sever disfigurement may be an indication for surgery as well
d. we do annual vision testing by a neuro-ophthalmologist and annual hearing testing
e. we do annual CT of skull and mandible
f. screen for and treat all endocrinopathies which adversely affect bone
g. little evidence that bisphosphonates are effective in CF FD
a. I would do a bone scan at least at baseline and at some interval (as part of research studies we do them annually) less often is probably ok as part of routine clinical care
2. Axial and Appendicular skeleton: very common, fractures frequent (esp. before 15 y.o.), shepherd's crook deformity common, pain common, sarcomatous degeneration (cancer) rare
a. find an orthopedic surgeon experienced with FD!
b. In general, less is better in the surgical treatment of FD
c. bracing may be helpful
d. screen for and treat all endocrinopathies which adversely affect bone
e. I would do a bone scan at least at baseline and at some interval (as part of research studies we do them annually), less often is probably ok as part of routine clinical care
f. bisphosphonates can decrease pain and markers of bone turnover, effect on course of disease and fracture rate is unknown
g. maintaining strength is important, swimming is an excellent exercise, cycling is good also
********************************************************************************
Recommendations for Endocrine Follow-Up of Patients with FD/MAS
1. Pituitary: GH and PRL excess are common and the signs and symptoms can be very subtle. GH excess can worsen craniofacial (CF) bone disease.
a. all patients should have an OGTT testing for non-suppressible GH at least once (> 1.0 ng/ml at 60 min on standart OGTT).
b. non-suppressible GH with elevated IGF-1 should be treated
c. what to do with non-suppressible GH and normal IGF-1 is not clear
(these patients will have an abnormal overnight GH secretion pattern)
2. Thyroid: hyperthyroidism is common
a. check TSH, FT4, T3, T4 (T3 dominant is most common)
b. treat with an oral anti-thyroidal (methimazole, PTU)
c. if definitive treatment is needed, we recommend surgery not radioiodine (we have found 2 cases of cancer and radioiodine may be an additional risk factor beyond the Gs mutation)
d. we perform annual ultrasounds to follow lesions and biopsy clearly dominant, large or changing lesions
3. Parathyroid: primary hyperparathyroidism is rare, secondary (to vitamin D deficiency) is common
a. check iCa and PTH annually
4. Adrenal: Cushings in the neonatal period occurs, but has not been reported past the first year. Some cases of neonatal Cushings resolve spontaneously
a. check adrenal reserve in resolved cases of neonatal Cushings
5. Renal: phosphate wasting with or without hypophosphatemia, and/or rickets/osteomalacia is common
a. check serum phosphate and renal phosphate handling (second AM void or 24 hour urine for TMP/GFR)
b. treat frankly low or low-normal serum phosphate with low TMP/GFR
c. see separate treatment algorithm
6. Gonads: precocious puberty (PP) in girls is common, PP in boys is less common, small testicular masses of leydig cell hyperplasia are common
a. treat PP in girls with an aromatase inhibitor (the only experience is with testolactone which is sometimes effective)
b. treat PP in boys with an aromatase inhibitor and an anti-androgen
c. check for and treat secondary central PP in children with PP with a long-acting GnRH agonist
d. check for Leydig cell masses in men with screening testicular ultrasounds
masses should undergo excisional biopsy to R/O CA
********************************************************************************
On Aug 28 2007, anonymous Wrote:
She has seen an eye doctor and he said everything is fine. She had a cat scan a few weeks ago at the ER because she cut her head open on the coffee table. They said everything looked good on that too. Is a cat scan the same as a CT craniofacial?
On Aug 21 2007, anonymous Wrote:
Re: Marisa
Has she seen a good eye doctor? What about a 3D CT scan of craniofacial? I'd start there if I were you.
Good luck.
On Aug 19 2007, Marisa Wrote:
Hello Everyone! When I took my 4 year old to her annual check up last year, the Dr. told me that the "birthmark" on her back was actually a cafe-au lait spot. She noticed about 10-15 smaller ones over the rest of her body also. She refered me to a Geneticist and an Endocronologist who both think it is MAS. Over the last year my daughter has had 2 bone scans and TONS of blood work. All of this testing has come back normal. The Dr's say now we just have to "wait and see what happens". My question is that is it possible for her to have MAS with just cafe au lait spots and no other symptoms? She complains about headaches and eye pain all the time but nothing showed up on the bone scans. Is there other testing I should ask for? I would appreciate any info.
On Aug 14 2007, Catherine C. Wrote:
Re: MAS and Stomach/GI Pain and Trouble
My son has been having some pretty serious stomach pain and GI trouble. I spoke with Marilyn Kelly at NIH about it. She said that sometimes the boys with MAS end up with pretty bad GI troubles and take medication like Prilosec for it. They can't say for sure that it's related to MAS but has been observed.
My guess is that it could be connected to the G protein systems impacted by MAS with a possible histamine excess contributing to extra GI/acid problems -- just a guess though.
P.S. I thought the conference in Chicago was terrific and had a great time meeting other MAS families. I'm planning to attend the FD Conference in Indianapolis in October. And MAGIC again next year! Hope everyone is doing great!
On Aug 06 2007, MAGIC foudnation offfice Wrote:
A TV Company based in the UK has approached the foundation to help them find two families with young adults with Primordial Dwarfism that would be willing to particpate in a documentary about the life of a 25 year old with PD. They are particulary interested in people between the ages of 18 and 25. If you are interested please contact the MAGIC office at 1800 3 MAGIC 3 or email sue@magicfoundation.org
On Aug 01 2007, Russ Wrote:
Hello Folks:
I have an almost 14 year old daughter with MAS/FD. I am looking for suggestions. My daughter has several areas involved with FD but most recently our concerns are around her spine and the scoliosis. She has had her running shoes modified with orthotics and a lift put in the sole of one shoe. During the summer months she doesn't wear the shoes much chosing to go barefoot or wear sandals. The shoes were designed to help level out her hips with hopes of not allowing the progerssion of the scoliosis. Our Dr. suggests to watch things for now, no surgery or brace. I am afraid her scoliosis is going to progress over these summer months while she isn't wearing her shoes. I want to know if any of you have gone through this personally, or have a child with the same concerns. Any suggestions will be much appreciated. Thanks
On Jul 18 2007, Russ, MAS moderator Wrote:
Tanya:
As far as how often to have the CT scan?
Our daughter is part of Dr. Collins' study at the NIH. I believe he has had her CT scans done annually, but that is in conjunction with the protocol for his study.
You should make the decision on what you and your daughter think is right. I've been told it is best to get an early base line, (you have that now). You can make a decision after that as to one or two year intervals. Once your daughter has two or three you will know if there is much change and then you will be better equipped to determine how often you should have the CT scans.
Good Luck,
Russ, MAS moderator
On Jul 18 2007, Tanya Wrote:
Hi, Russ!
Thanks for your input regarding my daughter's nose bleeds. We did, in fact, visit her Oto doc and she said that she didn't feel it was related to the FD in her sinus/sphenoid areas... Thank goodness!
Yes, she had a CT Scan done in January, which brings me to yet another question... How often is it recommended to have CT Scans done when there's FD involvement of the head? I believe I've heard annually, but our doc is comfortable waiting longer, as long as no symptoms arise. Perhaps having one done every 1 1/2-2 years? Is this typical? Thank you so much!
Take good care-
Tanya
On Jul 17 2007, anonymous Wrote:
Hi Tanya.
My daughter is a MAS patient, almost 14 years old now. I can recall a few times over the years with her having nose bleeds. They were usually during the winter months like what you have experienced with your daughter, when it was very dry. My daughter has FD involvement through her skull particularly in the sphenoid/sinus area. I think you should really discuss this with your Dr. at your earliest chance. Has she had a CT scan or an MRI of her head?
Good luck.
Russ, MAS moderator
On Jul 03 2007, Tanya Wrote:
Hello, everyone!
My 7 year old daughter has craniofacial involvement of FD, including her sinuses. In years past she has sufferd nose bleeds only two or three times each winter (probably due to dry heat). However, during the past 7 months they've continued, and have increased in frequency and amount. She now has nose bleeds at least three times a week. I am wondering if anyone has had this same problem? Could the FD be spreading and causing this to happen? We visit her Otolaryngology doc in a week or so and I'd like to be better informed. Any help would be greatly appreciated.
All My Best,
Tanya
On Jun 29 2007, Meredith in Colorado Wrote:
Response to Rob S. in Alabama:
My son is IGF-1 deficient with Perthes in both hips. He makes way too much GH. His orthopedic surgeons won't say he has Perthes, just "avascular necrosis of both femoral heads". He has also been diagnosed with Renal Tubular Acidosis. However, his renal specialist has never seen Perthes in any of her RTA patients. We are also dealing with three femur fractures (always his left leg) in the last 2 and a half years. My son is 5 1/2 years old now. No one can figure out why he keeps fracturing his femur. I would like to stay in touch to see if anyone else has had similar Perthes/GHD/IGFD combinations.
On Jun 28 2007, anonymous Wrote:
Re: FD DVDs
:: Just in case everyone hasn't seen these.
:: 4 DVDs available covering about 6 hours of medical presentations during the FD Conference (Aug. 2006)
:: Suggested donation of $10.
:: DVDs feature:
Dr. Michael Collins of NIH (Endocrinologist)
Dr. Lynn Lindaman (Orthopedic Surgeon)
Dr. Janice Lee (Craniofacial Surgeon)
Dr. Robert Stanton (Orthopedic Surgeon)
Dr. Frederick Singer (Endocrinologist)
Marilyn Kelly (Research Nurse of NIH)
:: Mail donations (with your contact information) to:
Fibrous Dysplasia Foundation, Inc.
15 Browns Ct SE
Washington, DC 20003
USA
On Jun 27 2007, Catherine C. Wrote:
Re: Melissa
Do what you have to do and ignore that pediatrician. EVERYONE thought I was a complete freak when I worried about my son (thought he had NF1, etc.) and just rolled their eyes at me until he fractured his femoral neck. Now everyone acts like they knew all along that there was a problem. Getting a complete endocrine screen and/or skeletal survey is not so hard that it should be discouraged for your son. It isn't like you're asking for a bone biopsy or something invasive like that. All I know is that the earlier you intervene the better his care will be. Would pediatrician prefer to wait until your son fractures a couple of bones/snaps a femoral neck/gets a shepard's crook to determine whether or not MAS may be concern?
This article here -- http://www.fibrousdysplasia.org/info_about_FD/library/1uk-McCune-Albright-Syndrome-Collins.pdf -- is a great place to start (you may have it already, but maybe pediatrician could give it a look).
Do what you, as mom, thinks needs to be done. I wish that I had pushed harder earlier myself.
Take care,
Catherine C.
On Jun 27 2007, anonymous Wrote:
So I took my 2 year old son for his yearly physical, required by our pediatrician before she would send referrals for the specialists to rule out MAS...she said that it was a waste of time and Stupid! STUPID!!! that I would be testing our son for this-that she had never even heard of this syndrome and therefore there was no way he could be suffering with it! I was livid-has anyone else experienced doubt and ignorance when first being diagnosed with MAS? I'm starting to question why I am having my son tested now! She hadn't done an ounce of research to help us, and I knew alot more then she did. She couldn't even pronounce it! Am I going crazy-should I not be angry at the pediatrician? Melissa
On Jun 26 2007, anonymous Wrote:
RE: Bone Pain
I am now an adult and I was diagnosed with polyostotic fibrous dysplasia in my right arm at the age of 5. I know bone pain and so do most people with this problem. It is a horrible ache that no amount of pressure, no ice (sometimes heat) can take away. When I was younger the doctors said try warm baths- that did help a little bit but only for about 5 minutes, then the pain level jumped up. We tried tylenol...no relief. Today, I take Aleve when the pain is bad. And one other thing. My mom figured out that my bones are at their most fragile about 10 days after my pain stops. If I wasn't careful (which was all the time because the pain finally went away) I would break my arm. So I started looking at it like an early warning system that a new cyst was forming (don't know if it was or not, that is just how I looked at it). So I learned to be extra careful for a few months until the bones were more stable again.
On Jun 26 2007, Terra Wrote:
Hello again, not a problem. I was reading that there aren't any known cases of genetic FD. Well I was diagnosed with FD when I was 9 years old. I have had two major surgeries on my had and a plate put into the top of my skull area.My 5 year old daughter is a little small for her age she doesn't seem to be growing normally and everyone always says she is really small.In January I found a lump on her forehead and took her to a nuerosurgeon whom kinda looked at me as over paranoid. he scheduled her surgery for April. Long story short after her biopsy her Dr. told me he was very shocked that she also has FD. Now she has been complaining of her legs hurting on the inside and her pediatrician has run all kinds of tests on her to say that he doesn't know what it is. We are now Orthopedic Dr. does anyone know anything about limb pain associated with FD?
On Jun 26 2007, Jamie Wrote:
RE: Terra and Questions
Sorry for the mix up- sometime the spam filter cause problems. You do not have to sign up or anything- Feel free to post your questions and I am sure everyone will try to answer as best we can!
On Jun 22 2007, Terra Terrell Wrote:
Hi I wrote in a couple of weeks ago But I haven't seen my message on the message board and was wondering if you have to register or something to get your questions up here? I have FD and so does my 5 year old daughter so I am really full of questions that I would like to ask other parents about FD Thank you Terra Terrell
On Jun 22 2007, Jamie Wrote:
FYI- MAGIC is working on establishing a new message board for everyone (all disorders) which is about Insurance issues. It should be up next week. If you have questions, personal experiences which you can share to help others-please look out for this Board and post so that families can finally get some real help from those who have been there! If you have a problem, feel free to post it...I am sure you will not be alone!
On Jun 15 2007, Tanya Wrote:
Sue,
I don't think your question was "selfish" at all. We're all dealing with expensive medical care and need guidance when seeking help.
We applied for disability for our daughter in January and we're still waiting to hear back. I understand many are denied initially, and it's suggested to hire an attorney to help you through. In fact, a friend's son who suffers from Diabetes (no physical limitations) qualified (with the help of an attorney) and has recieved disability for some time now. I understand that it's a very long process and could take a year or more. Upon further research, we found that due to their extremely strict financial limitations, we are, re-thinking even following this through. Check with your local office, but just know that you and your children must be extremely poor to qualify. For Example: You and your husband are allowed to keep and max out your IRAs (if any);however, each of your children can only have accounts that total $2000.00 each (and that does include their Education IRAs, Bank Accts., etc.). For us it seems to wipe out any future dreams we have for our children (Despite one child having MAS/PFD wouldn't you think they both deserve a college education and to keep their Education IRAs?...Not so, according to Social Security...Ugh!). Check with your local office and read all the fine print. It might be worth it for you, but we question it long term. Best of luck-
Tanya
On Jun 15 2007, Jeannie Buckley Wrote:
Hi All,
Nice to see this website up and running. What a wonderful tool.
I just wanted to quickly respond to Clay's concerns re: his cardiac issues. I too have read of some extremely rare cases of MAS individuals with cardiac arrythmias. I know with Kevin, whenever something goes wrong, I tend to initially "blame" MAS/FD. I believe it is important to realize that people with MAS/FD can have other ailments unrelated to this syndrome. Just as, say a diabetic could get cancer, we wouldn't necessarily blame the person's diabetic condition for the cancer. But, the cancer would still be treated, while tending to the diabetic condition, as well. Short of doing a biopsy of the heart (not a pleasant thought and I doubt advisable), I don't know if there would be a way to tell if the mutation is in the heart. I would think it important for you to find a good cardiologist (or maybe two) to consult with as to the best course of treatment. I would agree with the cardiologist who stated this was "presumptive". And, what matters is that the condition is treated, no matter what the cause, right?
I wish you the best.
Jeannie
On Jun 14 2007, Sue Wrote:
Hi, I know this is a very selfish question.. however, I am not sure who to ask... I do not qualify for any financial assistance whatsoever... with the costs of two MRI's each year, bone scan, and Lupron injections monthly... after my insurance, well, I am sure everyone is going thru the same thing. Does anyone know if you can get social security disability for kids with MAS? My daughter does not have any physical limitations, so I doubt it... but wanted some suggestions.
On Jun 14 2007, Delores Wrote:
My 10 year old daughter has been through numerous tests over the last year. MAS was suspected due to her having a very suspicious birthmark. It starts at her right ankle and goes all the way up her leg to her rear. At that point there is a large hairy nevus. The portion on her leg goes about half way around her leg. The nevus was present at birth, the other appeared at about age 2-3. She has only had one broken bone, her left arm, after a fall off her bike at age 4.
I was in contact with Jeannie at The Magic Foundation last year, who instructed me on which doctors to see. In May 2006, we saw a dermatologist who did a cancer biopsy on the nevus, it was negative. We have also seen an endocrinologist twice (July & Nov.), tests came back normal. She's had an ultrasound to check for ovarian cysts, negative. The first geneticist did a skeletal survey, it was normal. She sent us to another geneticist in that group, who specializes in neurocutaneous disorders. She was concerned with a hump on her back bone, x-ray came back okay. She sent blood work to St. Francis Genetics lab in Tulsa, it came back negative. She wants to see us back in a year, Feb. 2008.
For the most part my daughter is healthy. She will be 11 this month and is currently 5 feet tall. She developed breast tissue at about age 8. She has a severe overbite and has been wearing braces for almost 2 years. She's had bouts of headaches and blurred vision, so I took her to an eye doctor who prescribed glasses for astigmatism and nearsightedness.
I have a few questions.....Are there children with birthmarks this severe that do not have MAS? Is the skeletal survey they did July 2006 sufficient or is a bone scan necessary to find anything bone related? Is this a wait and watch case or do you think we can we rule out MAS?
On Jun 14 2007, Catherine C. Wrote:
Re: New! Fibrous Dysplasia Clinic at Johns Hopkins.
Frank Frassica, MD :: Adult Orthopedic Surgery
Arabella Leet, MD :: Pediatric Orthopedic Surgery
Oliver Simmons, MD :: Craniofacial Surgery
Suzanne Jan de Beur, MD :: Endocrinology
See http://www.hopkinsmedicine.org/orthopedicsurgery/FD/physicians.html
On Jun 13 2007, Catherine C. Wrote:
Re: Melissa's Question
Fracture rates differ with everyone notwithstanding the "severity" of MAS. Dr. Collins and some others have compiled the data on fracture rates -- The occurrence of extremity fractures in FD peaks between 6 and 10 years of age and declines thereafter. Fractures occur earlier and more frequently in the presence of phosphaturia. See http://www.jbmronline.org/doi/abs/10.1359/JBMR.0301262 for the full article on fracture rates.
My best to you (and your son) too.
On Jun 12 2007, Tanya Lachance Wrote:
Catherine W., We were in the same place when our daugheter was first suspected of having FD. Coming from a small town myself, my advice for you at this point is to make certain you child's PCP is on board with the potential seriousness of this disorder and ready to give you whatever referrals you might need. Next, make sure the facility that is doing the bone scan is familiar with FD...call and ask if you must. Is there a larger Children's Hospital in a bigger city near you? We have to travel 1 1/2 hours to Nashville, TN for our daughter's care. Look into it and be ready to be your child's best advocate! Hang in there and try to enjoy each day until you know more.
All My Best, Tanya L.
On Jun 12 2007, Tanya Lachance Wrote:
Melissa, my 7 year old daughter was diagnosed MAS/PFD last September, due to limping while playing baseball. No fractures, luckily we had docs that recognized the signs. In answer to your question about fractures possibly coming later... well, Lauren might be a girl, but she has ALWAYS been a rough and tumble TOMBOY, taking MANY hard falls, yet she never has broken a bone. Currently the FD has gotten worse and her docs want to use rods to help her. Hers is just one story and she is only 7, but no fractures yet and she does have severe FD/MAS. Hang in there...
All My Best, Tanya L.
On Jun 12 2007, Catherine C. Wrote:
Re: Thomas's Question on Doctors
I'd start with Dr. Michael Collins of NIH (Endocrinologist) and Dr. Lynn Lindaman (Orthopedic Surgeon) and Marilyn Kelly (Research Nurse of NIH). You can probably get their contact information thru Google search.
On Jun 12 2007, Melissa Wrote:
Catherine, Thank you for responding to me. As of yet we are awaiting our pediatrician to get the referrals needed for the tests to determine if our son has MAS. He seems to think that it would be impossible. The ony thing I am questioning is the fracture issue. Our son is a real bruiser and I am figuring he would have already hurt himself if he had MAS with the amount of falls he's taken. Have you heard of children not fracturing until they are alittle older? Is this something I should start to watch for? In the last week since I last wrote he has developed one more spot on his back. (small) I wish you the best of luck with your child.
On Jun 12 2007, Thomas Wrote:
Hi Iīm 27 years old german, diagnosed MAS/FD in the age of 6.
After >12 operations within 8 years and a final skoliose operation in ī94 I was stabilised to go on sticks since.
Actually im "relatively" pain free, some cysts all over the right side. Right femur is 10cm shorter than the left one (wearing orthopeadic "plateau"-shoes) and I had some rip breaks in the last time.
Main problem is still the shorter femur and the beginning back problems. Tried a treatment with DOSS which didnt change the process. Massage works only for a short time.
Iīm searching for an experienced orthpaedic/endocrin. (worldwide) for reconstructional operation of the right femur to stabilise and lenghten it with the aim of not walking on sticks /and or/ better the progress of back problems.
pantervoyage@gmx.de
On Jun 11 2007, Catherine C. Wrote:
Re: Education Documents and MAS/PFD
I've pulled together several education related documents. Let me know if you want me to email them to you. (1) Model Vision Statement, (2) Model Agenda for School Meeting, (3) Accessibility Survey, (4) IEP vs. 504 Plan Information, and (5) OI Foundation Education Document. My son's school will do an in-service in August so hopefully I can share a copy of that too (for anyone who may be interested). :: Catherine C.
On Jun 09 2007, jennifer whiteley Wrote:
hi . i am 46 years old and diagnosed with MAS when i was seven. spent my teeanage years in and out of hospital with various spine fusions. as of now i am relatively pain free, although i still fracture pretty frequently. is there any long term treatment for fibrous dysplasia? also is there any link between MAS and breast cancer? i was diagnosed with breast cancer 4 years ago.
On Jun 08 2007, Catherine W. Wrote:
Our 10 year old son fell on his arm, so we had it x-rayed. No break, but the radiologist report says, "probably fibrous dysplasia" and a bone scan is recommended. Our son is very active and healthy, normal weight and height. Any advice as we wait for a definite diagnosis and deal with local (small town) doctors? Any questions that would be important at this stage??
On Jun 08 2007, Kathryn Wrote:
My 2 yr old daughter has a large, irregular edged cafe au lait on one side of her abdomen which appeared at 4 weeks old. The dermotologist mentioned MAS to us and referred us to an endocrinologist. In the meantime we noticed some breast development. Tests have showed slightly elevated oestrogen and an LHRH test showed a low/normal LH response and slightly increased FSH. Ultrasound showed enlarged uterus and active ovaries. Drs diagnosed thelarche variant and say the cafe au lait is not related and MAS is unlikley. I'm not convinced. She is also large for her age, but xrays of hands showed no bone problems. Any help, comments, advice much appreciated.
On Jun 08 2007, Jenny Wrote:
Hello everyone,
My daughter is three and her endocrinologist is testing her twice a year for elevated hormone production and bone age. Every test comes back slightly elevated but not out of the normal range so my husband wants to stop testing her because he feels it is causing to much stress when she has no real signs. She has one breats that has slightly developed prematurely and a vewry small cafe-aulait spot on her arm. What to do?
On Jun 08 2007, Catherine Wrote:
Melissa, I would definitely get your son checked out. We worried about NF1 at first b/c Billy (my son, age 5) has 4 CALs (2 big ones, nape of neck, etc.) and went to see a ped. neurologist. She said not NF1 -- spots wrong shape (like Maine not California), eye exam was good . . . Thought for almost a year that we had dodged any trouble, then Billy fractured his femoral neck (was limping, took xrays, found a world of bone trouble). Wish the ped. neurologist had considered MAS. Billy's thyroid is overactive, and it would have been nice to have gotten it more under control earlier than later. Anyway, I think more than one or two CALs is unusual (esp. if odd-shaped, growing) and should always be reason to do further checking (esp. if there is some pain there too). Just some thoughts. Take care, Catherine
On Jun 08 2007, Jamie Wrote:
Hi Laura:
Sometimes it is really tough to actually get a diagnosis when you daughter(s) have problems like this. My daughter had the elevated gh and estrogen levels, but no cafe-o-lait. But unfortunately at the age of 5 the bone issues started showing up. Thank God she is a full blown diabetic too. No I'm not crazy- somehow...they don't know how or why...but the diabetes actually fought off the McCune bone issues to a major extent! I guess when you have 2 problems that both involve the immune system...they can offset one another and we got lucky...sort of.
Regarding both of your daughters...to the best of my laymen's info...there are no recorded siblings with MAS anywhere! As I have been on the "does she have it or not" rollercoaster for years now...I can only say-take each day with a smile and a prayer of thanks that nothing happened! It's hard to learn to do, but saves your sanity! Oh- never stop investigating and reading everything you can. Stuff like the convention will keep you up to speed too!
On Jun 08 2007, Laura Wrote:
Hi all. I have two daughters, one just turned 4 and one is 22 months. They both have very high female hormone levels and ovarian cysts. The older girl has a small tumor on her pituitary and cafe au lait spots. We are on our second endocrinologist, see a pediatric gynecologist and a geneticist. No one will say for sure whether there is MAS involved or something else. So far, they are relatively healthy which is a blessing. No accelerated bone growth or FD at this time. Any ideas?
On Jun 07 2007, Bridget Wrote:
Hi Deborah -
Are you listed on the contact list through Magic for MAS/FD? My daughter hasn't had any surgeries yet - it's a wait and see how it goes kind of thing, but I would love to chat!
On Jun 06 2007, Shannon Wrote:
I was diagnosed with FD in my tibia at 6 months old. They performed surgery removing the cysts and filled in with bone marrow from my hip. I wore a brace to the hip until I was three and then from the knee down until I was about 8 to keep the bone from breaking (although it broke twice). After that I only had one break between 8-10 w/ a cast, no rods. My leg however has bowed. I am 37 now and have not had any pain or problems until recently. My ankle turns in so the ankle and knee have been hurting lately while walking. Recently I started getting bone pain in the same leg, so have started to look into it again. The first surgeon suggested breaking the bone and a rod, but I am still uncertain. I am more concerned about walking when I get alot older. I have led a relatively normal life, less my self awareness of my leg. Though the older you get the less self conscience you are.
On Jun 06 2007, Jeff Wrote:
Hello:
I am a 57 year old man with PFD/MAS with endocrine and cardioac problems. I have multiple tumor sites and they are getting worse not better. I understand that there is a connection, albeit rare, between PFD/MAS and Sudden Cardiac Death. I am afraid of this.
I am in a constant state of cardiac arrythemia. At a recent visit to a local Cardiologist I was told that this conection was "prsumptive only". I have even seen death certificates of death attributed to PFD/MAS and Sudden Death, SCD, due to atrial Arrythemias. I asked for a cardioverter/defib implant to protect me from SCD. I am also worried about the risk of a stroke from the atrial fibullation.
Do any of you have experience in this area or have had implants done for your protection. Have any of you lost someone due to SCD related to PFD/MAS. Thank you for any help/information you may have to offer.
Best Regards,
Jeff
coho100@juno.com
On Jun 06 2007, melissa Wrote:
hello everyone. the dermatologists recently told us to start having our 2 year old son tested for MAS/NF. he had a very rapid growth cafe-au-lait with shadowing on his shoulder and complained of pain beneath the spot-and in the last week has developed a small spot on his forehead. I am wondering if this is typical of MAS. The speed of growth is concerning-although our pediatrician seems to think we're crazy about wanting to persue testing. What is your opinion on the matter?
On Jun 06 2007, Deborah Cagney Wrote:
Hi bridget...I just read your post. I too have a daughter that was diagnosed with fd in her skull and facial bones. She is 3 and was diagnosed at 2. She's already had 2 surgeries. I would love to chat with you. This disease is so rare and unknown hard to find people that are going through the same things. Deborah Cagney`
On Jun 06 2007, Bridget Wrote:
My youngest daughter is 3 and was diagnosed with MAS/FD when she was 18mo's. I like that we have a discussion board - this will help with questions! How many of you are planning on attending the convention this year. We would love to go, but finances won't allow it this year! Hopefully next year though!
On Jun 06 2007, Gloria Wrote:
Thank you so much Russ. My son is 11 and was diagnosed when he was 3. Currently he has had two ostiotmy surguries on his right femur. He is really starting to have problems on his tibula and fibula. It looks like his shin bone is curving inward. Is it true that it is best to wait until after puberty before doing any serious reconstruction? I have been keeping him in a wheel chair for the time being. Thank you again, this is so wonderful. I don't feel so alone.
On Jun 05 2007, Kim Zuber Wrote:
Hi, my name is Kim and I am 42 I don't remember when I was diagnosed with MAS/FD however from the age of 3 to 15 I was hospitalized every other year and sometimes every year either with broken bones or bone graphs or removing FD tumors. My right side is affected mostly my leg and arm however there are "spots" here and there. Since breaking my arm in my college I have been rather fortunate to have very few problems and no ongoing pain.
On Jun 05 2007, anonymous Wrote:
Hi, I have FD in my head and my clavicle. I would like to know if anyone has experienced a fracture in a bone w/FD that could not be fixed? I have a fracture in my clavicle and it is quite painful. I saw a orhtopedic surgeon and he sais that it was a bone that can't be repaired. Does anyone have a fracture in a bone w/FD that has healed? Any help would be extremly appreciated.
Thank-you,Cathy
On Jun 05 2007, Marie Wrote:
Hi and thank you for doing this. It's a great idea. I have a 10 year old daughter who has MAS. She was diagnosed at the age of 4. We were in a study at the NIH and it worked for her. We recently took her off the medication and she is having some problems with hemorragic cycts. Is there anyone out there with that problem? Also, she does not have any signs of FD. I was wondering if anyone out there developed it years after the precocious puberty.
On Jun 05 2007, Nancy Wrote:
My daughter who is 16 now was diagnosed with MAS when she was 12. She has the unfortunate problem of being only 4'10" due to her bone age being so far advanced when we finally figured out what it was. My eight year old son has also been diagnosed with rapid bone age and is small for his age. Can MAS strike twice in one family??
On Jun 05 2007, Pamela Wrote:
Hi there! I just wanted to say a quick thank you for putting this together! Also...Oprah is going to be doing a show on early puberty...and I thought maybe everyone who has been through this or has a child who is going through or has been through early puberty write in and try to get on the show so FD/MAS can be discussed to a large audience!! Just go to Oprah.com and write in please!! I have FD in my craniofacial bones which was diagnosed in 2001 at the age of 25...I have had two surgeries and am currently seeing physicians about a surgery on my eye muscles/eyelid/and deviated septum! I wish everyone the best of luck!
On Jun 05 2007, Michelle Rogers Wrote:
My 12 year old son was diagnosed with MAS last year and had surgery on his fractured hip in May 2006. It is my understanding that this syndrome can cause pain. Currently he does not complain about pain but I am curious to hear about an adult who has been living with this since adolescence and what their pain experience has been. Thank you so much for listening.
On Jun 05 2007, Russ Wrote:
In answer to, JAMELIA'S question:
WHAT KIND OF DOCTORS CAN TREAT THIS?
My Response is:
All of the MAS patients that I know are seeing more than one Dr. Most are with at least an Endocrinologist and a good Orthopedic Surgeon. It depends on how severe your case is and what special concerns you have. I think to start off with, whoever diagnosed you might be able to give you some direction locally.
On Jun 05 2007, Catherine Wrote:
Very nice, thanks for putting this together!
On Jun 05 2007, JAMELIA Wrote:
I'M 29 YRS OLD. I HAVE MAS AND I WAS WONDERING WHAT KIND OF DOCTORS CAN TREAT THIS?
On Jun 05 2007, margie Wrote:
thank you russ God Bless
On Jun 05 2007, Chris & Teri Breininger Wrote:
Russ - thanks from all of us - this will be a neat way for all of us to keep in touch!
On Jun 04 2007, Jamie Wrote:
Hi Russ this is great! Thanks for volunteering to do this for us all!
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