วีดีโอ

My disease is also Fibrodysplasia ossificans progressiva😢😢. My age is 33 Is there a cure for this disease sir?

My 20 yr old son has been bedridden since he was 8 yrs old. He has had many many surgeries due to McCune Albright Synd. & PFD....he makes me so sad when he says he doesnt want to live any longer....he is 24/7 care and he is my world. I wish there were something to help him.

Thankyu

Thankyu

Beware if you're a hypophosphatasia patient seeking help from Dr. Dahir. She tells her patients they can't have HPP if they don't have a known pathogenic genetic variant, which is false. You could probably figure that out just from the information in this video. I have personally interacted with several of her patients and her office staff. The fact is that the science is still developing and not all genetic variants are known. Dr. Dahir knows this very well since she co-authored a paper stating, "The presence of a pathogenic variant in the ALPL gene is not seen in all patients with HPP and is not required to make the diagnosis" (Google "Hypophosphatasia diagnosis: current state of the art and proposed diagnostic criteria for children and adults" for the source). It seems that she has a research focus and wants to develop a pool of "perfect" patients with known genetic variants that she can experiment on and to that end spreads false information to patients. It's totally unethical and wrong. I have spoken with one person who said they felt like a lab rat, had all kinds of tests run and after several long-distance trips to Nashville were ultimately told she couldn't help them. Other patients in search of help have had very difficult-to-obtain appointments that they had scheduled months out canceled shortly beforehand when Dr. Dahir found out they didn't have known genetic variants. I'm gonna be straightforward: she seems like a ruthless backstabber who wants to gain renown through her research accomplishments and doesn't give a rip about helping patients. I can only call it like I see it. I believe she knows a lot about HPP but the way she practices very likely constitutes medical malpractice.

Hi mam are you so good explain I am a nursing student from Pakistan

My sonhas osteogensis im perfecta.he is 6 year old.but ihave no idea which type he has.some one help me plz.

Thank you that was a great talk

What's taking so long to deliver this therapy to the clinic for patients? How long are we talking about in years?😮

We love hearing O.I. stories! Thanks, Jessica and Ken for sharing!

I’m not a doctor. I have been referred to a renal tubular disorder team because I have hypophosphatemia, I also have hypokalemia. Is there anyway that these two could be related? Also would hypophosphatemia, been responsible for my testicular development problems? Would appreciate any advice. Thank you

Sheildo lbl

Is it Multiple Herediatary Exostosis?

I’m 41- just saw my ALP was low on my blood panel (23) and noticed it was the same last year, too. My doctor said my blood tests were all normal range. So … now i’m just confused. I work out here and there, i’m stronger than maybe i should be, I have some pain in my back from a past car accident (disc issue) but no bone breaks or fractures in my life ever. My teeth have been chipping though recently… so i’m wondering if that’s why? Is there a certain kind of doctor to go see?

i am sick with this disease any treatment options

what about teriparatide in adult oi patients is it adviceable

Does the patient have to have homozygous finding with genetic labs? I have likely pathogenic heterozygous, and I am incredibly sick (bed bound in 30s) with low ALP, stiffness, electrolyte problems, blood volume/perfusion issues, neuropathy and much more.

I had to have a bk amputation last yr i ended up having 9 surgeries on it i had to have it checked at my one year mark and there's a new bone growing in now one crazy disease extremely painful the older you get the worse it gets! It is also a extremely debilitating disease all i can say pray a Lot, have a wonderful spouse that will stand by you through anything and find yourself one heck of a orthopedic doc.you are going to need them and be cautious a lot of drs have no idea what they are dealing with here but for some reason they don't like to admit it . A quick heads up if they can't pronounce it they have no idea how to treat it Goodluck everyone and God bless you

This disease absolutely sucks i have Always had it is so excruciating i went to unc ch hll and the dr told me he would get with the other geniuses there and come up with a treatment plan about a week later i received all my xrays back in the mail no explanation or anything

Dr Boyce reviewed my medical records to determine If I had fibrous dysplasia or not.

Thank you Julie. When you said, "other things beside bone density", it made me think of the safety studies performed in other clinical uses of GnRHa. Is there a defintiive bone histology study ongoing or planned in GnRHa-treated young DFAB persons? Both Prof Juliet Compston's* and Dr Jonathan Reeve's** groups published detailed histology findings in young women with endometriosis receiving GnRHa. The 21 pre-menopausal women (youngest 25 yrs, mean 33, 18 Caucasian, 2 Asian and 1 South American) had bone biopsy pre-GnRHa and another 6-months into GnRHa treatment for their symptomatic endometriosis. The researchers observed rapid adverse effects of GnRHa on trabecular microstructure and particularly cortical osteonal porosity (osteonal area increasing). One positive finding was that these physiologically-expected detrimental changes could be prevented by co-administered tibolone. *www.sciencedirect.com/science/article/pii/8756328294000382 **academic.oup.com/jbmr/article/12/8/1231/7514082?login=false Bone biopsy was scheduled to coincide with laparoscopy in those women.

Promo'SM

Im living in Iraq with 3.5 years daughter having OI 4 degree ,i need to know if this will help my daughter to walk,and where is the best place to do it ?

I have a 20 year old with this disease. He has a wide tongue it this documented with OI?

MEASURE THE FLUORIDE IN THE BONES ... ITS THERE.... PO1SONED BY CHINA.... (THE FLUORIDE IS ARTIFICIAL HYDROFLUORSILISIC ACID FROM CHINA IT COMES FROM THE SMOKE STACKS OF FERTILIZER AND ALUMINUM SMELTING INDUSTRY VERY TOXIC WASTE NEUROTOXIN AND IT ACCUMULATED IN BONES MAKING THEM BRITTLE PUT IN WATER BY THE GOV FOR YOUR TEETH... YET HAS 0 BENEFITS OF BEING SWALLOWED... YOU WONT FILTER IT OUT OF YOUR SHOWER.... YOU NEE CONTACT GOV AND SHOW THEM PROOF OF STUDIES ITS DANGEROUS ..THE MINDLESSS ADDING OF THIS NEUROTOXIN HAS REAL WORLD BRITTLE BONE EFFFECTS

Very beautifully summarised ! Thank you

Great to hear updates from around the world!

Is this only for children?

I think the problem is they call it "mild" OI, and people think that it isn't that big of a deal. That you should still be able to do everything that everyone else can do. THAT is the issue I am facing with my daughter's father. He seems to think that there's nothing wrong with me, and I'm just "lazy" but the fact of the matter is, I am in CONSTANT PAIN, and can barely move.

As a 48 year old with type 1 OI And a 7 year old daughter who has it, The part about pain management really struck home with me. MANY times I have had doctors assume I'm some kind of pill head, just because I dare to ask for something to manage the pain I am in. Some years ago, I broke my back after a domestic violence incident where my (no ex) hit me with his truck. It made my spine shift to the right, then a couple years ago, I was shoveling snow and it gave out on me entirely, shifting forward and slipping my disk. Because of my OI the surgeon was hesitant to do the corrective surgery to fix it because it entails putting pins in the bones and the risk of the bones crumbling was pretty high. I suffer constantly with rather high levels of pain, but no doctors will really give me anything for the pain. I have had to resort to smoking weed just to dull the pain, which makes me feel like a druggie, and I hate it. I hate the stereotype that goes along with it, the way people look at me... it just sucks all the way around.

We are so thankful to Dr. Carroll and the team at Nemours for all they have done and continue to do for our son. ❤

I have a pt melorheostosis 😢my wife 24 yrs old

Would anyone be willing to look at my ultrasound and give me some guidance on the next steps

I have this i am from the UK i spent 9 YEARS trying to get a answer there is nothing worse when your told over and over we cant see whats wrong test after test i felt i was running out of hope. I was refured to one DR who told me on that first day of seeing him within about 10mins this is what he thought i had when i finally got my diagnosis i was happy as i would get some answers. i have been living with Melorhestosis (since it presented itself after a accedent) for 16 years. i consider my doctor who diagnosed me and his team my Heros. there are hard days and there are hellish days. Just a back story i had 26 Years of relatively good heath doing all manner of things as a child not the safest looking back im greatful that i went through my childhood with no problems and carrying my three children way before any of this started. As it is Rare i have never personally met another person with it. i wouldnt wish it on my worst enemy.

You are an incredible inspiration!❤🏰

I have hpp

I’m 60 years old with osteogenesis imperfecta

I have mild osteogenesis imperfecta and over the last year or two have been getting ringing in my ears on a daily basis I’m on Prolia for my bones I lost my teeth because I was born with mostly baby teeth with a couple of adult teeth that eventually got bad and all pulled by 2014 I’m 31 years old in palliative care now I didn’t break hardly any bones until adulthood I would say 2017 I noticed something was wrong now from being born in June of 1992 I was seen by a genetic doctor in that year but he said he wouldn’t know if I had OI until I got older so at the age of 4-5 mom noticed I was having problems with my walking and I would fall a lot well come to find out I was born with flat feet where eventually resulted in 10 surgeries between 2009 and 2015 then I have my first compression fracture in March of 2017 I don’t get seen by an endocrinologist until my pcp finally ordered a Dexa scan and found that my Z score was -3.8 in august of 2022 I had my second Dexa scan which showed some improvement to a T score of -2.6 because before this second Dexa scan I was placed on forteo now I was supposed to be on it for a full two years but because I had doubts of the medication I took it for about six months so after following up for my results of the second Dexa scan I was placed on Prolia in November 28 2022 a series of genetic tests were ordered which gave me the answers I knew since my mom had OI as a child and her mom and aunts and cousins and mother as far as I know I’m the first in the family to get genetic testing it showed a mutation of CO1A1 gene and stated that I had osteogenesis imperfecta, Ehlers Danlos syndrome and Caffey disease I am in excruciating pain on a daily basis from having multiple compression fractures and placed in palliative care but my pcp managing my meds I never had this much pain growing up I am signed with the OI foundation I reside in upstate NY Rochester I was most recently diagnosed with mild spinal stenosis it’s a living nightmare for me as to why I created a GoFundMe gofund.me/c46b0664

✌️ *PromoSM*

HERBALIST DOCTOR KINGSLEY got the cure for Herpes Virus. I thought this was impossible just like my medical doctors told me not until I took a life-changing step by purchasing the effective herbal medicine from Herbalist Doctor Kingsley which got me cured.

Daughter (was born with OI) had magec rod implant early 2022 and left her with flatback-syndrome and post operative permanent neurological deficit. Post surgery, surgeon explained the intra operative that the neuromonitoring signal disappeared during lumbar screw implant, daughter's leg stopped moving, but they continued with the surgery until the end of the surgery. After the surgery, her legs started moving. We're wondering why they didn't perform the wake up test during the lost of the signal. Daughter woke up from surgery with leg numbness and swallow legs, leg jerking and shaking, hypersensitivity to touch. 2 months post op, loss of bowel and bladder control and it then recovered after 4 months. Since she woke up from the surgery, both legs were with electric shocks pain from lower back down to both feet, daily. She described as tingling, stabbing, needles pinched pain 24/7. It's been 16 months post op now, she's still suffering nerve pain daily. Permanent disability as a result of this outcome. Permanently in wheelchair now. She's still going back to the original surgeon fevery 8 weeks for magec lengthening procedures. The surgeon claimed it was a successful surgery and she needed to have more PT to get back to walking. The question now is how to resolve the Neurological deficit and flatback syndrome issues. She losses her natural lordosis curvature since the op and not able to bear weight to stand or walk upright. With the 24/7 tingling and electric shocks on both legs, it is extremely impossible for her to be able to stand straight to walk. Appreciate any input or advice to help her to get back her life.

I think i am getting what was said with the first speaker? Most cases of Type 1 Oi are structurally normal. But it is a quantiative disoder of collagen. Half the amount of Alpha1 chains.

I don’t really understand. Please help: if someone with very low PTH ( due to thyroidectomy) keeps taking high dosis of calcium and Vit D then the PTH test will keep showing low levels? my daughter 9 years old, had thyroidectomy 6 months ago, PTH TEST from today showed <2 ( normal should be 11-81), she takes 2000mg calcium daily. My question is, the high intake of calcium might be bringing the Pth to these levels ?

Do the infant with this condition need genetic screening to diagnose?

My daughter with OI/DI was told her back teeth will never touch and shes on year 2.5 of traditional braces. Its so frustrating 🥺

Thank you for posting this!

My daughter has HME. She is 24 It is chronic. While I appreciate this source of info and the professional input. I'm coming from a daughter who suffers in chronic pain EVERYDAY. water therapy. Regular therapy, drugs and not. She has a very low tolerance for pain and is in pain always. Also both her wrists never fused together correctly so she has 2 short fingers on one hand and has hand weakness and pain. You have also not addressed the vast other symptoms that are directly related to this disease. All of which have been diagnosed to be related to this disease. Migraines, fatigue, Asthma, sleep apnea, vertigo, and depression.

AMAZING! Love it!! Look into using "Promosm".

I just got a case. Any treatment updates?